tag:theconversation.com,2011:/us/topics/down-syndrome-1267/articlesDown syndrome – The Conversation2024-02-20T19:57:06Ztag:theconversation.com,2011:article/2169982024-02-20T19:57:06Z2024-02-20T19:57:06ZAncient DNA reveals children with Down syndrome in past societies. What can their burials tell us about their lives?<figure><img src="https://images.theconversation.com/files/575544/original/file-20240214-26-4oegvh.jpeg?ixlib=rb-1.1.0&rect=0%2C4%2C3264%2C1827&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://commons.wikimedia.org/wiki/File:Las_Eretas_aztarnategiko_etxearen_oinarriak.jpg">Suna no onna / Wikimedia</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>After analysing DNA from almost 10,000 people from ancient and pre-modern societies, our international team of researchers have discovered six cases of Down syndrome in past human populations.</p>
<p>Our results, published today in <a href="https://www.nature.com/articles/s41467-024-45438-1">Nature Communications</a>, show people with Down syndrome lived in ancient populations. Although these individuals were very young when they died, they were all buried with care, indicating they were appreciated as members of their communities.</p>
<h2>Down syndrome in humans</h2>
<p>The DNA in our cells (our genome) is separated into 23 chromosomes, much like a book is separated into chapters. Most people carry two “versions” of the first 22 chromosomes, one from each of their parents. In some cases, people can have a third, extra copy of chromosome 21 (this condition is called trisomy 21). </p>
<p>This extra copy of chromosome 21 changes how the body and brain develop. People with trisomy 21 will have some level of intellectual disability and some characteristic physical features (such as almond-shaped eyes or a shorter height). The physical features that can result from trisomy 21 are called <a href="https://www.downsyndrome.org.au/about-down-syndrome/what-is-down-syndrome/">Down syndrome</a>.</p>
<p>However, not every person with Down syndrome has the same physical features, and many of these features are not visible in the skeleton. This has made diagnosing Down syndrome from archaeological remains, which are often damaged and incomplete skeletons, very difficult. </p>
<p>However, we <em>can</em> detect trisomy 21 from even very small amounts of ancient DNA. This is because an additional chromosome 21 will lead to noticeably more DNA from chromosome 21 being present among the DNA that can be extracted from old bones and teeth.</p>
<h2>Discovered across different times and places</h2>
<p>After screening nearly 10,000 DNA samples, we identified six individuals with Down syndrome. </p>
<p>In our research, we screened nearly 10,000 DNA samples from across the world, dating as far back as when humans were hunter-gatherers. The six individuals we identified with Down syndrome were all from Europe, likely because this is where most of our ancient DNA samples were from. </p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/in-a-stone-age-cemetery-dna-reveals-a-treasured-founding-father-and-a-legacy-of-prosperity-for-his-sons-206940">In a Stone Age cemetery, DNA reveals a treasured 'founding father' and a legacy of prosperity for his sons</a>
</strong>
</em>
</p>
<hr>
<p>One individual was buried in the 17th or 18th century in a church graveyard in Helsinki, Finland, under what is now a popular tourist attraction, the <a href="https://www.myhelsinki.fi/en/see-and-do/sights/senate-square">Helsinki Senate Square</a>. </p>
<p>Another individual was discovered on the Greek island of <a href="https://www.aeginagreece.com/aegina/pages/history/index.html">Aegina</a>, the closest Mediterranean island to Athens. This individual lived approximately 3,300 years ago, and was buried next to a house, with a rare and intricate bead necklace. </p>
<p>A third individual was discovered at the Bronze Age Bulgarian tell site (a settlement on a man-made hill) of <a href="https://doi.org/10.1038/s41586-023-06334-8">Yunatsite</a>, dating to around 4,800 years ago. This infant was buried under the floor of the home in a so-called “urn burial”.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/559452/original/file-20231114-15-iv5hk5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="A photo of the remains of a small human skeleton." src="https://images.theconversation.com/files/559452/original/file-20231114-15-iv5hk5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/559452/original/file-20231114-15-iv5hk5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=411&fit=crop&dpr=1 600w, https://images.theconversation.com/files/559452/original/file-20231114-15-iv5hk5.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=411&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/559452/original/file-20231114-15-iv5hk5.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=411&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/559452/original/file-20231114-15-iv5hk5.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=517&fit=crop&dpr=1 754w, https://images.theconversation.com/files/559452/original/file-20231114-15-iv5hk5.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=517&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/559452/original/file-20231114-15-iv5hk5.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=517&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">The inhumation of the perinatal infant with Down syndrome from the Iron Age site of Las Eretas. This individual was buried within one of the houses in the settlement.</span>
<span class="attribution"><span class="source">Photographs from the Government of Navarre and J.L. Larrion.</span>, <a class="license" href="http://creativecommons.org/licenses/by-nc/4.0/">CC BY-NC</a></span>
</figcaption>
</figure>
<p>The remaining three individuals were found in two Iron Age sites in Spain, <a href="https://doi.org/10.11588/propylaeum.1280">Alto de la Cruz and Las Eretas</a>, dating to approximately 2,500 years ago. According to the estimates of their age at death, these babies likely did not survive to birth. </p>
<p>However, they were buried with care within homes or within special buildings reserved for rituals. These burials were remarkable, as most people of the region during these times were cremated instead of buried.</p>
<p>We also compared the skeletons of the individuals with Down syndrome to identify common skeletal differences, such as irregular bone growth, or porosity of the skull bones. </p>
<p>“Learning from this work may help to identify future cases of Down syndrome from skeletons when ancient DNA can’t be recovered,” says our co-author Patxuka de-Miguel-Ibáñez of the University of Alicante, the lead osteologist for the Spanish sites in the study.</p>
<h2>An unexpected discovery</h2>
<p>At one of the same Iron Age Spanish sites, we also identified an infant that carried an extra copy of chromosome 18. This condition, called <a href="https://raisingchildren.net.au/guides/a-z-health-reference/trisomy-18">Edwards syndrome</a>, causes much more severe physical differences, which could be observed in the skeletal remains. This baby likely only survived to 40 weeks’ gestation, but was also given a special burial.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/563237/original/file-20231204-22-9dw6do.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="An illustration of a settlement." src="https://images.theconversation.com/files/563237/original/file-20231204-22-9dw6do.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/563237/original/file-20231204-22-9dw6do.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=429&fit=crop&dpr=1 600w, https://images.theconversation.com/files/563237/original/file-20231204-22-9dw6do.jpeg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=429&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/563237/original/file-20231204-22-9dw6do.jpeg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=429&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/563237/original/file-20231204-22-9dw6do.jpeg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=538&fit=crop&dpr=1 754w, https://images.theconversation.com/files/563237/original/file-20231204-22-9dw6do.jpeg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=538&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/563237/original/file-20231204-22-9dw6do.jpeg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=538&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">A reconstruction of the Early Iron Age settlement of Las Eretas, Navarra.</span>
<span class="attribution"><span class="source">Iñaki Diéguez / Javier Armendáriz, Museo Las Eretas, Navarra</span>, <a class="license" href="http://creativecommons.org/licenses/by-nc/4.0/">CC BY-NC</a></span>
</figcaption>
</figure>
<p>The fact that three cases of Down syndrome and the one case of Edwards syndrome were found in just two contemporaneous and nearby settlements was a surprise to us. </p>
<p>“We don’t know why this happened,” says our co-author Roberto Risch, an archaeologist from The Autonomous University of Barcelona. “But it appears as if these people were purposefully choosing these infants for special burials.”</p>
<h2>A view of our past</h2>
<p>Today, individuals with Down syndrome live full and happy lives as valued members of our communities. Notably, our research found no adult individuals with Down syndrome. However, this study shows the perinates and infants that were found were clearly buried with care. In the case where a newborn survived, they were cared for until death. </p>
<p>As we discover and analyse more of these sorts of cases, we will be able to investigate the questions of how our near and distant ancestors viewed rare and uncommon genetic syndromes and how they cared for one another in these cases.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/we-thought-the-first-hunter-gatherers-in-europe-went-missing-during-the-last-ice-age-now-ancient-dna-analysis-says-otherwise-200899">We thought the first hunter-gatherers in Europe went missing during the last ice age. Now, ancient DNA analysis says otherwise</a>
</strong>
</em>
</p>
<hr>
<img src="https://counter.theconversation.com/content/216998/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The authors do not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.</span></em></p>After sifting through DNA from almost 10,000 people from ancient and pre-modern societies, we have discovered six cases of Down syndrome in past human populations.Adam "Ben" Rohrlach, Mathematics Lecturer and Ancient DNA Researcher, University of AdelaideKay Prüfer, Group leader, Department of Archaeogenetics, Max Planck Institute for Evolutionary AnthropologyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/2069242023-06-05T15:01:08Z2023-06-05T15:01:08ZSeveral Down syndrome features may be linked to a hyperactive antiviral immune response – new research<figure><img src="https://images.theconversation.com/files/529898/original/file-20230603-15-so1fli.jpg?ixlib=rb-1.1.0&rect=0%2C0%2C3679%2C2647&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Addressing the increased risks of certain diseases among those with Down syndrome could help improve their quality of life.</span> <span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/boy-with-down-syndrome-playing-outdoors-in-garden-royalty-free-image/1271658791">Halfpoint Images/Moment via Getty Images</a></span></figcaption></figure><p>People with <a href="https://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/">Down syndrome</a>, or trisomy 21, a genetic condition caused by an extra copy of human chromosome 21, experienced a remarkable increase in life expectancy during the 20th century. In the early 1900s, less than 20% of newborns with Down syndrome <a href="https://doi.org/10.1038/gim.2016.127">survived past age 5</a>. In the U.S. today, more than 90% of babies with this condition <a href="https://doi.org/10.1038/gim.2016.127">live past age 10</a> and have a life expectancy of <a href="https://doi.org/10.1001/jamanetworkopen.2022.12910">nearly 60 years</a>. These increases were <a href="https://doi.org/10.1016%2FS0074-7750(10)39004-5">likely fueled</a> by greater inclusion in general society, the discontinuation of institutionalization in psychiatric facilities and better medical care.</p>
<p>Despite these advances, people with trisomy 21 experience an increased risk of many <a href="https://doi.org/10.1038/s41572-019-0143-7">co-occurring conditions</a>, such as congenital heart defects, autoimmune conditions, autism spectrum disorders and Alzheimer’s disease. On the other hand, people with Down syndrome tend to have <a href="https://doi.org/10.17294/2330-0698.1824">lower levels of hypertension</a> and <a href="https://doi.org/10.1038/gim.2016.23">certain types of cancers</a>.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/529897/original/file-20230603-25-nrpa24.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Karyotype of Down syndrome, with a circle around three copies of chromosome 21" src="https://images.theconversation.com/files/529897/original/file-20230603-25-nrpa24.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/529897/original/file-20230603-25-nrpa24.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=480&fit=crop&dpr=1 600w, https://images.theconversation.com/files/529897/original/file-20230603-25-nrpa24.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=480&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/529897/original/file-20230603-25-nrpa24.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=480&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/529897/original/file-20230603-25-nrpa24.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=603&fit=crop&dpr=1 754w, https://images.theconversation.com/files/529897/original/file-20230603-25-nrpa24.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=603&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/529897/original/file-20230603-25-nrpa24.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=603&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Down syndrome is also called trisomy 21 because those with the condition have three copies of chromosome 21.</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/illustration/downs-syndrome-karyotype-illustration-royalty-free-illustration/685025123">Kateryna Kon/Science Photo Library via Getty Images</a></span>
</figcaption>
</figure>
<p>Understanding how an extra chromosome 21 causes these risks and resiliencies could advance collective understanding of major medical conditions that also affect the general population. For example, the <a href="https://doi.org/10.1038/s41582-018-0132-6">increased risk of Alzheimer’s disease</a> among adults with Down syndrome can be explained in part by the presence of a gene on chromosome 21 that leads to excess production of the beta-amyloid proteins and plaques characteristic of Alzheimer’s.</p>
<p>In our newly published research, my research team <a href="https://scholar.google.com/citations?user=6gRbVeAAAAAJ&hl=en">and I</a> found that <a href="https://www.nature.com/articles/s41588-023-01399-7">genes involved in controlling the immune system</a> are critical to the development of multiple hallmarks of Down syndrome. Our findings contribute to a growing body of research on the immune system’s important role in the appearance and severity of some of the negative health effects of trisomy 21, supporting the idea that restoring immune balance could help improve the quality of life of people with the condition.</p>
<h2>When too much of a good thing is bad</h2>
<p>The genes we identified, which encode what are called <a href="https://doi.org/10.1038%2Ficb.2012.9">interferon receptors</a>, are an important part of the immune system’s antiviral defense. These genes enable our cells to recognize a set of proteins called interferons, which virus-infected cells produce to alert the yet uninfected cells around them about the presence of a virus during an infection.</p>
<p>While interferons do trigger a beneficial immune response against viral infections, chronic interferon hyperactivity could have detrimental effects. Too much interferon signaling is known to be harmful in medical conditions such as <a href="http://dx.doi.org/10.1136/lupus-2018-000270">systemic lupus erythematosus</a>, a group of genetic disorders known as <a href="https://doi.org/10.1038/s41577-021-00633-9">interferonopathies</a> and <a href="https://doi.org/10.1038/s41577-020-00429-3">severe COVID-19</a>.</p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/529899/original/file-20230603-17-pq5zrq.png?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="3D model of human interferon-beta structure" src="https://images.theconversation.com/files/529899/original/file-20230603-17-pq5zrq.png?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/529899/original/file-20230603-17-pq5zrq.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=418&fit=crop&dpr=1 600w, https://images.theconversation.com/files/529899/original/file-20230603-17-pq5zrq.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=418&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/529899/original/file-20230603-17-pq5zrq.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=418&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/529899/original/file-20230603-17-pq5zrq.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=526&fit=crop&dpr=1 754w, https://images.theconversation.com/files/529899/original/file-20230603-17-pq5zrq.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=526&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/529899/original/file-20230603-17-pq5zrq.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=526&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Interferons are involved in antiviral immune responses.</span>
<span class="attribution"><a class="source" href="https://commons.wikimedia.org/wiki/File:1AU1_Human_Interferon-Beta05.png">Nevit Dilmen/Wikimedia Commons</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span>
</figcaption>
</figure>
<p>Notably, four of the six human interferon receptor genes are <a href="https://doi.org/10.1038%2Ficb.2012.9">located on chromosome 21</a>. Most people have only two copies of each chromosome and so would have only two copies of these genes. Because people with Down syndrome have three copies of chromosome 21, they also have three copies of the interferon receptor genes on it. This contributes to the <a href="https://doi.org/10.7554/eLife.16220">overproduction of interferon receptors</a> seen in those with Down syndrome.</p>
<p>Our team wanted to know whether this <a href="https://www.nature.com/articles/s41588-023-01399-7">extra copy of interferon receptor genes</a>, compared with the roughly 200 other genes located on chromosome 21, contribute to features of Down syndrome. To do this, we used a mouse model of Down syndrome. In this mouse model, a large region of its genome that is equivalent to a large portion of human chromosome 21 is triplicated to reproduce many features of Down syndrome.</p>
<p>Using <a href="https://theconversation.com/human-genome-editing-offers-tantalizing-possibilities-but-without-clear-guidelines-many-ethical-questions-still-remain-200983">CRISPR gene editing</a> technology, we reduced the number of interferon receptor genes from three to the typical two, leaving all other triplicated genes intact. We found that <a href="https://www.nature.com/articles/s41588-023-01399-7">correcting the number of interferon receptor genes</a> significantly reduced abnormal gene expression patterns across multiple tissue types, both during embryonic development and in adult mice. These mice also had more regulated immune responses, normal heart development, reduced developmental delays, improved performance on memory and learning tasks and even a more typical skull and facial morphology.</p>
<p>Overall, our findings suggest that the tripling of interferon receptor genes may cause a number of key traits of Down syndrome.</p>
<h2>Therapeutic implications and future directions</h2>
<p>Our research indicates that many, though not all, aspects of Down syndrome may be associated with hyperactivity of the immune system’s interferon response. It also supports the possibility of using drugs that attenuate this response to treat some of the negative health effects of trisomy 21.</p>
<p>Our team is currently leading two clinical trials to test the safety and efficacy of one such drug, <a href="https://www.uptodate.com/contents/tofacitinib-drug-information">tofacitinib (Xeljanz)</a>. This drug belongs to a class of drugs known as JAK inhibitors used to treat autoinflammatory conditions. One trial <a href="https://clinicaltrials.gov/ct2/show/NCT04246372">focuses on autoimmune skin conditions</a> more common in Down syndrome. The second trial <a href="https://clinicaltrials.gov/ct2/show/NCT05662228">focuses on Down syndrome regression disorder</a>, or DSRD, a rare but devastating <a href="https://doi.org/10.3389%2Ffneur.2022.940175">neurological condition</a> that can result in loss of speech, sleep disruptions, difficulty moving and hallucinations. There is evidence that suggests that a subset of DSRD cases may be caused by <a href="https://doi.org/10.1186/s11689-022-09446-w">immune dysregulation affecting the brain</a>.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/529900/original/file-20230603-27-v9th5q.png?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="Person with Down syndrome holding a potted plant in a nursery" src="https://images.theconversation.com/files/529900/original/file-20230603-27-v9th5q.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/529900/original/file-20230603-27-v9th5q.png?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/529900/original/file-20230603-27-v9th5q.png?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/529900/original/file-20230603-27-v9th5q.png?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/529900/original/file-20230603-27-v9th5q.png?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/529900/original/file-20230603-27-v9th5q.png?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/529900/original/file-20230603-27-v9th5q.png?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Treating the common health risks that occur with Down syndrome could help improve quality of life.</span>
<span class="attribution"><a class="source" href="https://www.gettyimages.com/detail/photo/portrait-of-happy-confident-florist-in-flower-shop-royalty-free-image/1327764759">Flashpop/DigitalVision via Getty Images</a></span>
</figcaption>
</figure>
<p>Our study findings also support further investigation into the effects of interferon hyperactivity on fetal development more generally. Two of the key traits of Down syndrome that we found were affected by the tripling of interferon receptors – congenital heart disease and skull and facial shape – develop in utero.</p>
<p>Though our research shows promise on the potential of JAK inhibitors and other drugs that modulate the immune system to improve health outcomes in Down syndrome, more research in people is needed to determine their safety and efficacy.</p><img src="https://counter.theconversation.com/content/206924/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Joaquin Espinosa receives funding from the National Institutes of Health, the Global Down Syndrome Foundation, and the Anna and John J. Sie Foundation. Dr. Espinosa has provided consulting services to Elli Lily and Co. and Gilead Sciences Inc. and currently serves in the advisory board of Perha Pharmaceuticals.</span></em></p>People with Down syndrome have an extra chromosome 21. Understanding the effects of those triplicated genes could help improve the health of those with Down syndrome and other medical conditions.Joaquin Espinosa, Professor of Pharmacology, University of Colorado Anschutz Medical CampusLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1965992023-01-10T11:51:54Z2023-01-10T11:51:54ZWhy being bilingual can open doors for children with developmental disabilities, not close them<figure><img src="https://images.theconversation.com/files/501612/original/file-20221216-14-xribej.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">Antoni Shkraba / Pexels</span></span></figcaption></figure><p>When parents learn their child has a developmental disability, they often have questions about what their child may or may not be able to do. </p>
<p>Children with developmental disabilities, such as Down syndrome, often have challenges and delays in language development. And for some families, one of these questions may be: “Will speaking two languages be detrimental to their development?” </p>
<p>However, studies consistently demonstrate exposure to an additional language, including a minority language, <a href="https://www.cambridge.org/core/journals/studies-in-second-language-acquisition/article/abs/predicting-language-proficiency-in-bilingual-children/40E27364CCAEB48D4F878EE64C377CF2">does not impact language outcomes negatively</a>. This highlights the importance of giving children the opportunity to become bilingual.</p>
<p>Many parents feel speaking one language would be easier than two. Some may feel <a href="https://pubs.asha.org/doi/abs/10.1044/2016_JSLHR-L-15-0348">bilingualism would be too confusing</a> for a child with a developmental disability. This is a belief which is also sometimes held by teachers and clinicians who may be consulted on their view towards bilingual exposure. </p>
<p>With good intentions, paediatricians, speech–language therapists, teachers or social workers <a href="https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1460-6984.2011.00071.x?casa_token=3-Vp9tBfaUYAAAAA:1yG64kISIh9vPRWEnD1VSyE8P9lVl9skv8ZSn8o6AQbL1_A2mEd1mErgXaPm7oxdfz5AoQRcpI7SwB4">may advise parents</a> to avoid using a heritage or minority language in the home, as children will also be exposed to the majority community language.</p>
<p>Research also shows children with disabilities may have <a href="https://www.sciencedirect.com/science/article/pii/S0021992416300272?casa_token=b33PrWslSUoAAAAA:BPWMufWoUG8p0W7CB-KqpJKiBCTadDMU_K6tpzjgolramxAtSXjvKj4UrzUvpSsuWD_AAj6XIA">fewer opportunities to access services</a> in a second language.</p>
<p>However, bilingualism is possible for children with developmental disabilities, as our research on children learning both Welsh and English shows. Children who are able to access bilingual provisions may also benefit. In fact, research shows bilingualism may have a <a href="https://www.sciencedirect.com/science/article/pii/S0891422219300149?casa_token=Qk0mgmkJTCEAAAAA:kdSYpyVLrCx84jDJbtaU1LRP4MFyUFhc4GSWiWSi_JJCOcj2idcZEjut9jhrgb1BmKk-Nx_vSKM">positive impact on these children’s social interactions and the formation of their identity</a>.</p>
<h2>Bilingualism in Wales</h2>
<p>The most recent census data for England and Wales suggests <a href="https://www.ons.gov.uk/peoplepopulationandcommunity/culturalidentity/language/bulletins/welshlanguagewales/census2021#:%7E:text=In%202021%2C%20an%20estimated%20538%2C000,2011%20(562%2C000%2C%2019.0%25)">the number of children able to speak Welsh in Wales has declined by 1.2 percentage points</a> from 19% in 2011 to 17.8% in 2021. The largest decline was in those aged between 5 and 15 years old. </p>
<p><div data-react-class="Tweet" data-react-props="{"tweetId":"1600061790410493952"}"></div></p>
<p>While these latest figures are unexpected and <a href="https://www.gov.wales/written-statement-response-census-2021-results-welsh-language">disappointing according to the Welsh government</a>, the age group with the highest percentage of Welsh speakers was also children between the ages of 5 and 15. This gives a promising outlook for the future of the Welsh language. </p>
<p>Crucially, converging evidence shows bilingualism does not cause <a href="https://www.child-encyclopedia.com/second-language/according-experts/second-languagebilingualism-early-age-emphasis-its-impact-early">additional difficulties or lead to confusion for children learning more than one language</a>.</p>
<p>Parents may have reservations about Welsh-medium education if they do not speak Welsh themselves, for example. Parents of autistic children or children with developmental disabilities may have further reservations still. </p>
<p>Once again though, studies show <a href="https://onlinelibrary.wiley.com/doi/abs/10.1002/aur.2023?casa_token=1Iib1mcuGscAAAAA%3Akc31b2-oE-T2BP9EEu9meC6mzjiPqAuIxptAVJDAoRoo38-pRgtWMhqzp3E-sCUZ8uW4wA2j3RCazdc">bilingualism does not cause additional difficulties</a> for these groups either. This includes children with more <a href="https://www.tandfonline.com/doi/abs/10.1080/02699206.2020.1818288">complex and co-occuring conditions.</a></p>
<h2>Why parents should embrace bilingualism</h2>
<p>Regarding children with Down syndrome, <a href="https://pubmed.ncbi.nlm.nih.gov/34126402/">we found parents need not have these concerns</a>. Indeed, our research suggests families should embrace bilingualism. We recruited children with Down syndrome alongside typically developing children who were either acquiring only English, or were exposed to both English and Welsh. These children completed a range of specialist tasks to assess their cognitive and language skills.</p>
<p>We found Welsh-English bilingual children with Down syndrome had comparable English skills in important language areas to children with Down syndrome who had only been exposed to English. </p>
<p>Meanwhile, the bilingual children were also developing skills in their additional language. Those also acquiring Welsh had similar abilities in that language as younger children without Down syndrome, who were at the same level of development. </p>
<figure class="align-center ">
<img alt="Girl with Down syndrome smiling with painted fingers" src="https://images.theconversation.com/files/503289/original/file-20230105-14-ydlxj6.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/503289/original/file-20230105-14-ydlxj6.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/503289/original/file-20230105-14-ydlxj6.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/503289/original/file-20230105-14-ydlxj6.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/503289/original/file-20230105-14-ydlxj6.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/503289/original/file-20230105-14-ydlxj6.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/503289/original/file-20230105-14-ydlxj6.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption"></span>
<span class="attribution"><span class="source">Denis Kuvaev, Shutterstock</span></span>
</figcaption>
</figure>
<p>Children with Down syndrome should therefore be supported in accessing similar educational provisions as more typically developing children. In the context of Wales, this could mean accessing Welsh-medium schools or being included in second language classes.</p>
<p>In Wales, parents can opt for their children to receive Welsh-medium education, regardless of their home language. Children who receive Welsh education can flourish if they have access to bilingual education.</p>
<p>Research on typically developing bilingual children and adults suggests there may be other <a href="https://theconversation.com/how-does-being-bilingual-affect-your-brain-it-depends-on-how-you-use-language-146264">benefits to being bilingual</a>. These include better mental skills, creativity and even the possibility of being <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6868000/#:%7E:text=Bilingualism%20is%20one%20form%20of,monolingual%20patients%20through%20cognitive%20reserve.">protected against cognitive decline</a>, such as Alzheimer’s disease. </p>
<p>Being bilingual opens up a range of opportunities such as <a href="https://ojs.deakin.edu.au/index.php/jtlge/article/view/1077">better prospects of gaining employment</a>, and <a href="https://www.tandfonline.com/doi/full/10.1080/13670050.2020.1799323?casa_token=5tlcOYoZ1C4AAAAA%3AisI1jclMPKZlLwklTkl2z1rNI2LnQg1tmBpLIsgbv--ItUGNFoBtlpuV5VyQSWWEgb8itiX2WKDE">helping to develop social skills</a>.</p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/MMmOLN5zBLY?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
</figure>
<p>Research shows some of these benefits, such as enhanced thinking skills, <a href="https://pubmed.ncbi.nlm.nih.gov/32157943/">may also extend to autistic children</a>. </p>
<p>Giving children the opportunity to develop abilities in two languages also enables them to be able to choose what language they want to communicate in. It may also make them feel connected to their community. </p>
<p>These findings challenge the view that bilingualism is detrimental to children’s development. In contrast, including children with developmental disabilities in bilingual provisions gives them the chance to blossom alongside their typically developing peers.</p>
<p>As a result, families should feel empowered to reach informed decisions for themselves by considering the potential opportunities being bilingual may provide.</p><img src="https://counter.theconversation.com/content/196599/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Rebecca Ward has received funding from the Economic and Social Research Council's Doctoral Training Partnership Programme and The Coleg Cymraeg.</span></em></p><p class="fine-print"><em><span>Eirini Sanoudaki collaborates with the Down’s Syndrome Association, schools and groups involved in supporting individuals with developmental conditions. She receives funding from the ESRC for research on bilingualism in neurodiverse populations.</span></em></p>There are many benefits to being bilingual.Rebecca Ward, Lecturer in Psychology, Swansea UniversityEirini Sanoudaki, Senior Lecturer in Linguistics (Bilingualism), Bangor UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1315312020-02-26T19:49:39Z2020-02-26T19:49:39ZRecognizing the Canadian contributions to research on Down syndrome<figure><img src="https://images.theconversation.com/files/317459/original/file-20200226-24651-asscfp.jpg?ixlib=rb-1.1.0&rect=0%2C12%2C4288%2C2830&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">World Down Syndrome Day recognizes people living with Down syndrome and those who support them.</span> <span class="attribution"><span class="source">(Shutterstock)</span></span></figcaption></figure><p>March 21 is <a href="https://www.worlddownsyndromeday2.org/">World Down Syndrome Day</a>. In 2011, the United Nations adopted a <a href="https://www.un.org/en/ga/search/view_doc.asp?symbol=A/RES/66/149">resolution to celebrate the lives of those with this once socially debilitating condition and the efforts of families and communities to increase the quality of life of those affected</a>. </p>
<p>With the exception of sperm, egg and red blood cells, each cell in our body has two copies of each of 23 chromosomes. In Down syndrome, a third copy of chromosome 21 — known as trisomy 21 — is found in each cell. Hence, the Down Syndrome Day is marked on the 21st day of the third month of each year. </p>
<p>Although <a href="https://www.canada.ca/en/public-health/services/publications/healthy-living/down-syndrome-surveillance-2005-2013.html">Down syndrome</a> remains prevalent today in Canada, quality of life has become the key to management of the syndrome. <a href="https://cdss.ca/resources/facts-questions/">Counselling programs for families with Down syndrome</a> are in place across Canada. </p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/ze_6VWwLtOE?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">An overview of the causes, symptoms, diagnosis and pathology of Down syndrome (trisomy 21).</span></figcaption>
</figure>
<p>International efforts to <a href="https://www.downs-syndrome.org.uk/about/history-of-downs-syndrome-2/">humanize this syndrome</a> began in the 1960s, and written requests were made to the medical journal <em>The Lancet</em> by physicians as well as the grandson of the first person to describe the syndrome, <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5130304/">British physician John Langdon Down</a>. In 1965, <a href="https://www.downs-syndrome.org.uk/about/history-of-downs-syndrome-2/">a name change to Down syndrome was accepted by the World Health Organization</a>. </p>
<p>At the time, there was widespread prejudice towards those afflicted and existing institutional practices were often barbaric. Journalist Catherine McKercher’s 2019 book, <a href="https://gooselane.com/products/shut-away"><em>Shut Away: When Down Syndrome Was a Life Sentence</em></a>, investigated what happened to her brother when he was institutionalized in 1961 with disastrous consequences. </p>
<h2>A leading researcher</h2>
<figure class="align-left zoomable">
<a href="https://images.theconversation.com/files/314571/original/file-20200210-109935-1hjjvn4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/314571/original/file-20200210-109935-1hjjvn4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/314571/original/file-20200210-109935-1hjjvn4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=854&fit=crop&dpr=1 600w, https://images.theconversation.com/files/314571/original/file-20200210-109935-1hjjvn4.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=854&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/314571/original/file-20200210-109935-1hjjvn4.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=854&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/314571/original/file-20200210-109935-1hjjvn4.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1073&fit=crop&dpr=1 754w, https://images.theconversation.com/files/314571/original/file-20200210-109935-1hjjvn4.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1073&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/314571/original/file-20200210-109935-1hjjvn4.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1073&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Irene Ayako Uchida was a leading figure in genetics research in Canada.</span>
<span class="attribution"><a class="source" href="https://fhs.mcmaster.ca/networkfall2014/irene_uchida.html">(McMaster University)</a>, <span class="license">Author provided</span></span>
</figcaption>
</figure>
<p>Although Down syndrome is the <a href="http://www.intellectualdisability.info/diagnosis/articles/downs-syndrome">leading genetic cause of cognitive disability</a>, little is known of the initial handful of Canadian researchers whose work contributed to the understanding of Down syndrome. </p>
<p>Through mentors that included the <a href="https://www.thecanadianencyclopedia.ca/en/article/norma-ford-walker">geneticist Norma Ford Walker</a> and <a href="https://www.cdnmedhall.org/inductees/brucechown">pathologist Bruce Chown</a>, <a href="http://jccabulletin-geppo.ca/irene-uchida-seeing-the-truly-wonderful-part-one/">Canada’s Irene Ayako Uchida</a> became a <a href="http://www.science.ca/scientists/scientistprofile.php?pID=21.">pioneer and health research leader in the field of genetics</a> in her own right. </p>
<p>After training at the University of Wisconsin with <a href="https://www.nipd.com/articles/blog/trisomy-13-patau-syndrome/">geneticist Klaus Patau and cytogeneticist Eeva Therman</a>, she returned to Canada to found <a href="http://dx.doi.org/10.1016/j.ajhg.2013.09.005">the country’s first cytogenetics laboratory at the Children’s Hospital in Winnipeg</a> to detect chromosomal abnormalities. Uchida was the first to identify the <a href="https://doi.org/10.1016/S0140-6736(68)91525-0">link between Down syndrome and exposure to X-ray radiation</a>, with <a href="https://doi.org/10.1007/BF00273450">the chromosomal imbalance originating from either parent</a>.</p>
<h2>Memory connections</h2>
<p>Down syndrome is accompanied by memory difficulties, and enormous progress has been made in learning more about memory through the work of Canadian researchers.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/a-memory-pill-cognitive-neurosciences-contributions-to-the-study-of-memory-109707">A memory pill? Cognitive neuroscience's contributions to the study of memory</a>
</strong>
</em>
</p>
<hr>
<p>McGill University psychologist Donald Hebb showed that the <a href="https://thebrain.mcgill.ca/flash/i/i_07/i_07_cl/i_07_cl_tra/i_07_cl_tra.html">enhancement of synaptic connections in the brain led to long-term memory</a>. His trainee Brenda Milner, who went on to found the field of neuropsychology, discovered that the <a href="https://www.brainfacts.org/in-the-lab/tools-and-techniques/2018/the-curious-case-of-patient-hm-082818">hippocampus of the brain was the site for memory acquisition</a>. </p>
<p><a href="https://doi.org/10.1038/nature03897">The mechanism for how memory acquisition happens</a> was uncovered by McGill molecular biologist Nahum Sonenberg. With his trainee, Mauro Costa-Mattioli, they discovered <a href="https://www.the-scientist.com/scientist-to-watch/mauro-costa-mattioli-memorys-puppeteer-36009">that memory acquisition in mice occurs through signals that trigger the synthesis of new proteins</a>. Sonenberg and Costa-Mattioli observed the consequences of the addition or removal of phosphate to one initiation factor needed to make proteins in the hippocampus. </p>
<p>This discovery was seized upon by molecular biologist and biochemist Peter Walter at the University of California San Francisco, an expert on the initiation factor that Sonenberg had discovered as the key to memory. Together, they discovered a <a href="https://www.ucsf.edu/news/2018/03/410111/memory-enhancing-drug-acts-molecular-staple">potential memory drug</a>, which <a href="https://doi.org/10.7554/eLife.00498.001">Sonenberg showed enhanced memory in mice</a>.</p>
<p>Recently, the <a href="https://doi.org/10.1126/science.aaw5185">discovery circle</a> has been completed. Sonenberg’s former trainee Costa-Mattioli collaborated with Walter. They discovered that the memory drug <a href="https://www.ucsf.edu/news/2019/11/415946/down-syndrome-mouse-model-scientists-reverse-intellectual-deficits-drugs">ISRIB would reverse the memory defect in mouse models of Down syndrome</a>.</p>
<p>The trajectory of discovery from basic science to the patient is <a href="https://www.facebook.com/peirsoncenter/videos/804982193306765/">a credible hope for Down syndrome</a>. All of the <a href="https://www.longevity.technology/calico-licenses-memory-enhancing-drug-isrib/">basic science discoveries have stood the test of time</a> and clinical trials are expected for drugs under development.</p>
<h2>Research paths</h2>
<p>For the memory breakthrough, open discovery research — where scientists follow their curiosity rather than a search for an answer or cure — led to the collaboration between Sonenberg and Walter. This research guided Sonenberg’s former trainee, Costa-Mattioli to uncover with Walter the mechanism that leads to the memory difficulties in Down syndrome. Coincidentally, they found that the same drug discovered by Sonenberg and Walter previously would also reverse the memory difficulty in the mouse model of Down syndrome. </p>
<p>It is the Sonenberg discovery that is unexpected. He is a molecular biologist who specializes in the machineries cells use to make proteins. He pioneered the field of “translational control.” This field explains the regulation of when, where and how proteins are made in each of our cells. Sonenberg discovered that this regulation was through protein synthesis initiation factors. He uncovered their importance not only in cancer, but also in autism spectrum disorder; studying memory was a logical next step. Sonenberg discovered the <a href="https://www.sciencedirect.com/science/article/pii/S0092867409000907">key “initiation factor” for new protein synthesis required for memory</a>. </p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/ZAIb8sC9dAo?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">Nahum Sonenberg on cancer, autism and memory.</span></figcaption>
</figure>
<h2>Supporting discovery</h2>
<p>In the U.S., <a href="https://www.hhmi.org/news/brain-enhancing-drug-reverses-down-syndrome-memory-deficits-mice">Walter and Costa-Mattioli have received exceptional funding from the National Institutes of Health and the Howard Hughes Foundation to support their research</a>.</p>
<p>The same is not true in Canada. Sonenberg was selected as a health research leader for a Foundation Grant from the Canadian Institutes for Health Research. The program was <a href="https://cihr-irsc.gc.ca/e/51418.html">terminated in 2019 with no alternative in place</a> today for internationally competitive funding to our most talented. </p>
<p>For Down syndrome, open discovery research produced findings that have improved the quality of life of those affected by the condition. </p>
<p><em>John Bergeron gratefully acknowledges Kathleen Dickson as co-author.</em></p><img src="https://counter.theconversation.com/content/131531/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>John Bergeron does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>World Down Syndrome Day is marked on March 21 annually. Canadian scientists have helped improve the quality of life of those affected.John Bergeron, Emeritus Robert Reford Professor and Professor of Medicine, McGill UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1077332018-11-29T10:42:12Z2018-11-29T10:42:12ZAlzheimer’s: drug trials for preventing the disease in people with Down syndrome may soon be possible – here’s why<figure><img src="https://images.theconversation.com/files/247767/original/file-20181128-32230-1u7sp5b.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Alzheimer's disease is the most common form of dementia.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/663397216?src=y4ZJ1YVKeJpghbJkLwlwBw-1-41&size=medium_jpg">Orawan Pattarawimonchai/Shutterstock</a></span></figcaption></figure><p>People with Down syndrome have a very high risk of getting Alzheimer’s disease compared with the general population. Despite the increased risk, we don’t know enough about how the disease develops in this group to be able to conduct trials for new treatments. Our <a href="https://www.alzheimersanddementia.com/article/S1552-5260(18)33518-0/fulltext">latest study</a> has identified important information that could help to plan future trials.</p>
<p>Around one in every 1,000 people born in the UK have Down syndrome. Down syndrome is a genetic condition, and people with this condition have extra copies of some genes.</p>
<p>One gene where people with Down syndrome have an extra copy is called the amyloid precursor protein gene, or APP gene. This gene produces amyloid proteins. Clumps of these amyloid proteins have been implicated in the development of Alzheimer’s disease – the most common form of dementia – as they are found in great numbers in the brains of people with Alzheimer’s.</p>
<p>Most people with Down syndrome also have these clumps of amyloid protein in their brains from their mid-30s. This is thought to be due to their extra APP gene. The presence of these amyloid clumps in people with Down syndrome is thought to be linked to the greatly increased risk of developing Alzheimer’s disease in this population.</p>
<p>Alzheimer’s diagnosis also occurs at a much younger age in people with Down syndrome compared with the general population. Recent studies have estimated that the risk of being diagnosed with dementia is <a href="https://onlinelibrary.wiley.com/doi/abs/10.1111/jir.12390">80% by the age of 65</a> for people with Down syndrome, and the average age of dementia diagnosis is <a href="https://content.iospress.com/articles/journal-of-alzheimers-disease/jad170624">55 years</a>.</p>
<p>We have shown that Alzheimer’s disease is the underlying cause of death in <a href="https://jamanetwork.com/journals/jamaneurology/fullarticle/2714719">70% of people with Down syndrome</a> who die after the age of 35. Also, mortality rates are five times higher for people with dementia compared with those who do not have dementia. These figures show the importance of finding new treatments for Alzheimer’s disease in people with Down syndrome.</p>
<p>To develop drug trials for Alzheimer’s disease in Down syndrome it is necessary to understand the earliest symptoms that occur as the disease develops. Previously, it was not clear whether the memory changes typical of Alzheimer’s disease in the general population are also the first changes in people with Down syndrome and, if so, when these changes begin.</p>
<p>Our study, carried out at King’s College London and University College London, answered these questions. We tested different abilities of over 300 people with Down syndrome with a wide age range (16-71 years), including people with different stages of dementia.</p>
<p>We found that the <a href="https://www.alzheimersanddementia.com/article/S1552-5260(18)33518-0/fulltext">earliest cognitive changes</a> using our tests were in memory and attention, and these changes started in the early 40s.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/247790/original/file-20181128-32214-1vyyr2b.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/247790/original/file-20181128-32214-1vyyr2b.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/247790/original/file-20181128-32214-1vyyr2b.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/247790/original/file-20181128-32214-1vyyr2b.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/247790/original/file-20181128-32214-1vyyr2b.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/247790/original/file-20181128-32214-1vyyr2b.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/247790/original/file-20181128-32214-1vyyr2b.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">People with Down syndrome can get dementia at a very young age.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/203256391?src=7hoxss1WrkZk44lGe85aGw-1-46&size=medium_jpg">karelnoppe/Shutterstock</a></span>
</figcaption>
</figure>
<h2>Enough information to get started</h2>
<p>Previous drug trials for Alzheimer’s disease have had <a href="https://www.thelancet.com/journals/lancet/article/PIIS0140-6736(17)32399-1/fulltext">limited success</a>. Researchers think this is because treatments are given when the disease has progressed too far. Because Alzheimer’s disease is so common in people with Down syndrome, understanding the early changes will allow treatment to be started before symptoms have developed.</p>
<p>As a result of our findings, we now know which cognitive tests will be most sensitive at detecting the earliest brain changes. We also know at what age trials should be started for this, and the number of people needed for such a drug trial.</p>
<p>Successful trials to treat Alzheimer’s disease in people with Down syndrome may help to identify new drugs that could treat Alzheimer’s disease in the general population. Over <a href="https://www.dementiastatistics.org/statistics/global-prevalence/">50m people</a> are estimated to have dementia across the world, and this number is expected to triple by 2050. Finding treatments for Alzheimer’s is essential to tackle this burden.</p><img src="https://counter.theconversation.com/content/107733/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Carla Startin has received research funding from the Baily Thomas Charitable Fund, the Jerome Lejeune Fondation, and the UCL Alzheimer's Research UK Network.</span></em></p>People with Down syndrome are at much higher risk of dementia than the general population. Knowing when cognitive changes start is critical for developing new drugs.Carla Startin, Teaching Fellow, University of SurreyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/1003552018-09-24T12:36:30Z2018-09-24T12:36:30ZShould we edit the genomes of human embryos? A geneticist and social scientist discuss<figure><img src="https://images.theconversation.com/files/235664/original/file-20180910-123110-1sjjjpb.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/group-multiethnic-babies-crawling-isolated-on-144900358?src=1eUR-dDDVFwjE22c02M5GA-1-22">Sirtravelalot/Shutterstock.com</a></span></figcaption></figure><p><em>This is an article from <a href="https://theconversation.com/uk/topics/head-to-head-62019">Head to Head</a>, a series in which academics from different disciplines chew over current debates. Let us know what else you’d like covered – all questions welcome. Details of how to contact us are at the end of the article.</em></p>
<p><strong>Felicity Boardman</strong>: The birth of a child with genetic disease is generally an unexpected event. The parents of these children typically won’t have a family history with the condition, or even be aware that they are genetic “carriers”: that they can transmit a genetic condition to their offspring, but do not have it themselves. Indeed, there are currently only two carrier screening programmes active in the UK that are implemented during pregnancy (one for for thalassaemia, and the other for sickle cell trait). So for most parents, discovering the condition in their family occurs through their child’s diagnosis, either through the <a href="https://www.nhs.uk/conditions/pregnancy-and-baby/newborn-blood-spot-test/">newborn heel prick test</a>, or following the onset of symptoms. </p>
<p>Even in cases where a genetic condition in the foetus is identified during pregnancy, the options for would-be parents remain extremely limited. Many of the most common genetic conditions still lack effective treatments or cures. This means that, for many parents, the information leads to a decision about whether or not to terminate the pregnancy, or continue in the knowledge that the child will have the condition.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/237127/original/file-20180919-158213-1pdwaq9.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/237127/original/file-20180919-158213-1pdwaq9.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=390&fit=crop&dpr=1 600w, https://images.theconversation.com/files/237127/original/file-20180919-158213-1pdwaq9.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=390&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/237127/original/file-20180919-158213-1pdwaq9.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=390&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/237127/original/file-20180919-158213-1pdwaq9.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=490&fit=crop&dpr=1 754w, https://images.theconversation.com/files/237127/original/file-20180919-158213-1pdwaq9.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=490&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/237127/original/file-20180919-158213-1pdwaq9.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=490&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Sickled red blood cells in liver tissue.</span>
<span class="attribution"><a class="source" href="https://wellcomecollection.org/works/x3e4ekce?query=Sickle+cell+disease">SB Lucas/Wellcome Collection</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
</figcaption>
</figure>
<p>The introduction of <a href="https://theconversation.com/scientists-edit-human-embryos-to-safely-remove-disease-for-the-first-time-heres-how-they-did-it-81925">genome editing</a>, however, signals a dramatic departure from this usual pathway through reproductive care. Although the foundations of genome editing were laid initially in the 1960s when proteins were first used to “cut” DNA, the recent development of new techniques and technologies (such as <a href="https://theconversation.com/uk/topics/crispr-15704">CRISPR-Cas9</a>) has made genome editing more precise, more cost-effective and consequently more accessible than ever before. </p>
<p>By intervening before a child is even born, the use of genome editing in human reproduction has the potential to alleviate some of the complicated and painful decisions around pregnancy termination – by providing a reproductive option that has, up until now, not been possible. That is, the possibility of removing the disease-causing genetic variant, while simultaneously preserving the life of the foetus. </p>
<p><strong>Helen O’Neill</strong>: Genome editing indeed marks a significant shift, and not only in the area of reproduction, but also in the direction of tailored treatments and personalised medicine. It offers hope to those who, before now, have not had any better options than prescriptions and palliative care.</p>
<p>It’s an incredibly exciting time for such research both in terms of discovery and diagnostics. The advent of CRISPR genome editing has catapulted previous efforts in genomics and is being adopted globally. My research, for example, uses CRISPR genome editing to assess the treatment and understanding of sex chromosome disorders and neuromuscular disorders. There are <a href="https://theconversation.com/why-treat-gene-editing-differently-in-two-types-of-human-cells-51843">two ways</a> in which genome editing could be used for both treatment and prevention: somatic cell therapy, which could be used in newborns and adults, and germline genome editing, which would be used in an early embryo to prevent a disorder. In this second type, genome editing would aim to alter every cell of a resulting baby, and therefore these changes would be passed on to future generations, meaning that disease causing variants would be prevented from being passed on.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/237120/original/file-20180919-158213-7115hv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/237120/original/file-20180919-158213-7115hv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=338&fit=crop&dpr=1 600w, https://images.theconversation.com/files/237120/original/file-20180919-158213-7115hv.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=338&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/237120/original/file-20180919-158213-7115hv.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=338&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/237120/original/file-20180919-158213-7115hv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=424&fit=crop&dpr=1 754w, https://images.theconversation.com/files/237120/original/file-20180919-158213-7115hv.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=424&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/237120/original/file-20180919-158213-7115hv.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=424&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">CRISPR-Cas9 allows scientists to target and activate or silence specific genes.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-illustration/dna-molecule-structure-strand-repair-editing-774492757?src=fsLzr20sTEzmuh_eWpHdWg-1-10">Vrx/Shutterstock.com</a></span>
</figcaption>
</figure>
<p>The use of genetic technologies in reproduction is <a href="https://www.theguardian.com/commentisfree/2017/aug/04/editing-human-genome-consumer-eugenics-designer-babies">frequently criticised</a> for harbouring <a href="https://theconversation.com/three-person-ivf-has-nothing-to-do-with-eugenics-but-its-time-for-a-designer-baby-debate-23996">eugenic undertones</a>. But genetic selection occurs with or without these technologies. For example, we make decisions about the genetics of our future offspring when we choose our mate. We make decisions about the health of our future offspring when we take supplements such as <a href="https://theconversation.com/folic-acid-in-pregnancy-mthfr-gene-explains-why-the-benefits-may-differ-95302">folic acid</a> and improve our diet during pregnancy. Decades of research have yielded <a href="https://theconversation.com/complex-guidelines-on-eating-fish-when-pregnant-mean-that-mothers-and-babies-are-missing-out-83587">ever-increasing information</a> about how we can protect and nurture our embryos, not only by including essential macronutrients but also by excluding harmful exposures such as alcohol and tobacco. We don’t ignore these welfare warnings. Nor is it considered elitist to adhere to them by choice to deliver a healthy baby.</p>
<p>But when comparing these genetic prompts to more purposeful permutations of our genetics using gene editing technology, the rationalisation for wanting a healthy baby somehow becomes displaced with irrational ideas about the creation of a “perfect” baby.</p>
<p>It is true that advances in research rarely lend themselves so quickly to clinical adoption. But safety is obviously the number one prerequisite for any research development to become medical practice. Proceeding with such medical advances will always be subject to rigorous oversight. So <a href="https://www.newscientist.com/article/2179920-revealed-what-the-uk-public-really-thinks-about-the-future-of-science/">for many</a>, genome editing – and the era of <a href="https://theconversation.com/personalised-medicine-has-obvious-benefits-but-has-anyone-thought-about-the-issues-59158">personalised medicine</a> – is not something to be feared but embraced.</p>
<h2>Mistrust and myth</h2>
<p><strong>FB</strong>: While caution is a good thing, fear of the technologies can make meaningful and progressive debate quite difficult. The association of genome editing with “<a href="https://theconversation.com/why-the-case-against-designer-babies-falls-apart-45256">designer babies</a>”, for example, although making for catchy headlines, masks the intended uses of the technologies. The connotations of frivolity, commercialism and superficial decision making that comes with the term “designer” does a great disservice to the parents in these difficult situations who are facing complex and often deeply painful decisions.</p>
<p><strong>HON</strong>: Yes: the term “designer” suggests that there is an element of choice and privilege to a baby that may be born with an edited genome. In fact, the opposite is more likely to be true; people will not edit the genomes of their embryos out of choice, but because they have no choice if they are to deliver a healthy, viable baby.</p>
<p>And as it stands, <a href="https://www.nature.com/articles/d41586-018-05462-w">we are still debating</a> the number of genes in the human genome and certainly do not know what all of the genes do. Even if we did, the unpredictability in the mechanism of genetic crossover between parental genomes precludes any realistic control or prediction of the majority of traits. Choosing partners based on what we see on the outside is a far more reliable method for designing our babies’ appearance.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/237728/original/file-20180924-85785-1y6nasc.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/237728/original/file-20180924-85785-1y6nasc.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=373&fit=crop&dpr=1 600w, https://images.theconversation.com/files/237728/original/file-20180924-85785-1y6nasc.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=373&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/237728/original/file-20180924-85785-1y6nasc.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=373&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/237728/original/file-20180924-85785-1y6nasc.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=469&fit=crop&dpr=1 754w, https://images.theconversation.com/files/237728/original/file-20180924-85785-1y6nasc.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=469&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/237728/original/file-20180924-85785-1y6nasc.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=469&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">All babies are ‘designed’ to some extent when we choose a partner.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-photo/parents-their-newborn-baby-boy-on-729856267?src=XHAK_BLe7vsMGnO_t72a9w-1-0">Jacob Lund/Shutterstock.com</a></span>
</figcaption>
</figure>
<p>There is no doubt that a subject like this needs widespread discussion and debate and in fact <a href="https://www.newscientist.com/article/2179920-revealed-what-the-uk-public-really-thinks-about-the-future-of-science/">recent surveys</a> show that the public are optimistic about genome editing for curing diseases, but there can also be a lack of trust about the intended use of this technology. The distraction from the good that this technology can do is frustrating as a researcher. We should not extrapolate the worst possible outcome which encourages unrealistic and disingenuous ideas focusing on dystopian scenarios.</p>
<p><strong>FB</strong>: I think some of this mistrust stems from fear of the unknown and a concern that this technology stands to alter not only our biology, but also our society. People with genetic disabilities, for example, those with spinal muscular atrophy, haemophilia and <a href="https://theconversation.com/discovering-the-ancient-origin-of-cystic-fibrosis-the-most-common-genetic-disease-in-caucasians-100499">cystic fibrosis</a> (who I work with during my research), are set to be impacted by the consequences of genome editing, yet they are not always included in stakeholder debates as much as they could be. This is in spite of the fact that people with disabilities have much to contribute to our understanding of what life with genetic disease is really like. Insights that are highly relevant to decisions about which conditions are suitable candidates for genome editing.</p>
<p><strong>HON</strong>: But the use of genome editing can also be seen as addressing some of the objections to prenatal testing and pregnancy termination raised by disability rights supporters. By treating the foetus’ or embyro’s condition, rather than terminating them, genome editing may be an attractive alternative for those who disagree with pregnancy termination or embryo disposal on the grounds of disability or otherwise. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/237114/original/file-20180919-158219-1ogp1mi.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/237114/original/file-20180919-158219-1ogp1mi.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=661&fit=crop&dpr=1 600w, https://images.theconversation.com/files/237114/original/file-20180919-158219-1ogp1mi.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=661&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/237114/original/file-20180919-158219-1ogp1mi.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=661&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/237114/original/file-20180919-158219-1ogp1mi.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=830&fit=crop&dpr=1 754w, https://images.theconversation.com/files/237114/original/file-20180919-158219-1ogp1mi.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=830&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/237114/original/file-20180919-158219-1ogp1mi.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=830&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Separation of DNA fragments.</span>
<span class="attribution"><a class="source" href="https://wellcomecollection.org/works/gkhb2nrc?page=3&query=DNA">Guy Tear/Wellcome Collection</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
</figcaption>
</figure>
<h2>What’s at stake?</h2>
<p><strong>FB</strong>: That’s of course true, but for some, this development is regarded as coming at a cost. Genome editing not only changes the genome of the embryo it treats, but also that of every generation that comes after it, and so critical questions still remain about how and when it would be ethically and socially appropriate to implement it. Indeed, it <a href="http://nuffieldbioethics.org/project/genome-editing-human-reproduction">has been suggested</a> that over time, genome editing could effectively remove particular disease-causing traits from the human gene pool.</p>
<p>While this may seem a positive development to many people, the question of which conditions and traits genome editing should be used to treat, and which it should not, is far from straightforward. <a href="https://www.ncbi.nlm.nih.gov/pubmed/30196552">Research I have conducted</a> with families living with a range of conditions that could all one day be candidate conditions for genome editing, for example, has revealed that a person’s relationship to their genetic condition is often complex. For some, their disability is an integral and valued part of their identity, while for others, an unwelcome burden. As such, ascertaining the quality of life of a person with a genetic disorder (particularly before birth) is a near impossible task.</p>
<p>As genome editing technologies move into mainstream healthcare and become widely adopted, it is possible that would-be parents will feel under pressure to use them. This is a concern that has long been raised in relation to informed consent and antenatal screening <a href="https://www.ncbi.nlm.nih.gov/pubmed/20947230">for Down’s Syndrome</a>. The potential stigmatisation and branding of parents who forgo the technologies as “selfish” or “irresponsible” needs to be seriously considered, as well as the possibility that this stigma could extend to the disabled people already living with “editable” conditions (the numbers of whom are likely to reduce over time).</p>
<p>Indeed, the public profile of these (often rare) genetic conditions will shift and alter through the use of genome editing – from conditions once considered “chance” occurrences, to preventable diseases. This change is likely to have social consequences, as well as biological ones.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/237284/original/file-20180920-129877-1b14sjq.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/237284/original/file-20180920-129877-1b14sjq.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=375&fit=crop&dpr=1 600w, https://images.theconversation.com/files/237284/original/file-20180920-129877-1b14sjq.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=375&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/237284/original/file-20180920-129877-1b14sjq.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=375&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/237284/original/file-20180920-129877-1b14sjq.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=472&fit=crop&dpr=1 754w, https://images.theconversation.com/files/237284/original/file-20180920-129877-1b14sjq.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=472&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/237284/original/file-20180920-129877-1b14sjq.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=472&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Fibrous deposits in pancreas due to cystic fibrosis.</span>
<span class="attribution"><a class="source" href="https://wellcomecollection.org/works/sbbr52xk?query=cystic+fibrosis">Anne Clark, University of Oxford/Wellcome Collection</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
</figcaption>
</figure>
<p><strong>HON</strong>: It is essential to put genome editing in context with what is already available in terms of screening and pre-implantation genetic diagnosis – which has been available for 30 years. With this, every single condition needs to be appraised and legally approved before it can be tested for. And ultimately, the decision comes from the parents.</p>
<p>It is also important to remember that we cannot predict the pattern of genetics or the heritability of disorders. So suggesting that conditions would be “eliminated” is certainly not the goal of researchers, nor is it realistic. Not all genetic disorders are inherited from the family line, many are sporadic or “<a href="https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/de-novo-mutation"><em>de novo</em></a>” mutations which occur through chance. While germline genome editing certainly has consequences for future generations, many current standard treatments are not ideal and have unwanted side effects, but they are the best we currently have. Take for example cancer radiation therapy, which not only alters, but destroys, the germline.</p>
<p>More research is critical. We know less about the early developmental stages of a human embryo than we do of mice, worms, flies and fish. Knowledge is the most powerful prescription you can give, but it comes with a burden. It is important that with each new discovery we are able to fully consolidate our knowledge before advancing to the next level in research.</p>
<p><strong>FB</strong>: I agree – and also think it’s important to note that we need more research that explores the technologies from a range of vantage points. Currently, there is a lack of dialogue between the various disciplines working in this area, including geneticists, scientists, bioethicists, sociologists and disability studies scholars. By removing some of the disciplinary divisions, we may better be able to see the full consequences of the technologies for everyone whose lives will be affected by them, the list of which seems to be ever-expanding.</p>
<hr>
<p><em>If there’s a specific topic or question you’d like experts from different disciplines <a href="https://theconversation.com/uk/topics/head-to-head-62019">to discuss</a>, you can:</em></p>
<p><em>* Email your question to josephine.lethbridge@theconversation.com
<br>
* Tell us on <a href="https://twitter.com/ConversationUK">Twitter</a> by tagging <a href="https://twitter.com/ConversationUK">@ConversationUK</a> with the hashtag #HeadtoHead, or
<br>
* Message us on <a href="https://www.facebook.com/ConversationUK/">Facebook</a>.</em></p><img src="https://counter.theconversation.com/content/100355/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The authors do not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Academics from different disciplines come Head to Head in this series to tackle topical debates.Felicity Boardman, Assistant Professor in Social Science and Systems in Health, University of WarwickHelen O'Neill, Lecturer in Reproductive and Molecular Genetics, UCLLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/980572018-07-16T12:39:19Z2018-07-16T12:39:19ZGenetically testing human embryos: what you need to know about the debate<figure><img src="https://images.theconversation.com/files/227570/original/file-20180713-27039-mcnucq.jpg?ixlib=rb-1.1.0&rect=4%2C85%2C992%2C559&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/663855814?src=IN0rrEL67_2yW_dAGseRhw-1-9&size=medium_jpg">Nixx Photography/Shutterstock.com</a></span></figcaption></figure><p>Screening embryos for genetic abnormalities in IVF was first <a href="https://www.nature.com/articles/344768a0">successfully performed in 1989</a>, resulting in the birth of the Munday twins. A test to screen for a specific genetic abnormality was later developed, choosing embryos with the correct number of chromosomes and discarding those with too many or too few. This test is widely used in fertility clinics to increase the chance of live birth and a healthy baby. Whether it should be performed at all, however, is hotly debated.</p>
<p>Both egg and sperm cells normally have 23 chromosomes, and after fertilisation, a single-celled embryo with 46 chromosomes is formed. A cell with 46 chromosomes is known as “euploid”, and an abnormal cell, with fewer or more chromosomes, is known as “aneuploid.” Aneuploidy can lead to congenital abnormalities (such as Down syndrome), pregnancy loss, infertility, or IVF not resulting in pregnancy. </p>
<p>Embryonic cells continue dividing after fertilisation and, after five or six days, there are about 100 cells, each with 46 chromosomes – if the cells are normal. One group of cells will become a baby and the other the placenta. At this stage a few cells that would later form the placenta can be removed by an embryologist for testing. The test is known as preimplantation genetic testing for aneuploidy, or PGT-A.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/227575/original/file-20180713-27027-7sxqaa.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/227575/original/file-20180713-27027-7sxqaa.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=450&fit=crop&dpr=1 600w, https://images.theconversation.com/files/227575/original/file-20180713-27027-7sxqaa.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=450&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/227575/original/file-20180713-27027-7sxqaa.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=450&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/227575/original/file-20180713-27027-7sxqaa.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=566&fit=crop&dpr=1 754w, https://images.theconversation.com/files/227575/original/file-20180713-27027-7sxqaa.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=566&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/227575/original/file-20180713-27027-7sxqaa.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=566&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Each euploid cell has 46 chromosomes.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-vector/cell-structure-dna-molecule-double-helix-368406905?src=PChLo6sGTS0WsvqQWM5-nw-1-20">Designua/Shutterstock.com</a></span>
</figcaption>
</figure>
<h2>Lively debate</h2>
<p>By only implanting euploid embryos, PGT-A should improve a woman’s chances of becoming pregnant. However, the first clinical trials to evaluate the procedure showed the reverse to be true, and authors of those trials remain fierce opponents of the test. But parents who have benefited from PGT-A, and many fertility experts, are enthusiastic advocates. A lively debate has persisted ever since.</p>
<p>Early versions of PGT-A used fluorescent probes to identify specific chromosomes three days after fertilisation, when the embryo has just eight cells. However, these methods were prone to misdiagnosis and didn’t look at every chromosome in the embryo. So abnormal aneuploid cells could be missed and normal embryos could be mistakenly classed as aneuploid, which partly explains the unfavourable clinical trial results. </p>
<p>As well as changing the embryo biopsy time to five or six days after fertilisation, more accurate and sensitive tests were developed to analyse all chromosomes simultaneously. These new approaches – demonstrated in several clinical trials, observational studies and large national data sets – have <a href="http://www.reproduction-online.org/content/156/1/F29.full">improved IVF results</a>, increasing pregnancy and birth rates, and reducing miscarriage. As a result, many fertility experts now believe PGT-A can be beneficial using the right methods, in the right hands and with the right patients. </p>
<p>However, opponents of PGT-A argue that there is still not enough high-quality evidence to justify PGT-A. They argue that PGT-A should only be used after at least one “properly designed” favourable clinical trial has been published as they consider the previous trials, showing PGT-A to be of benefit, to be biased, poorly designed and too small.</p>
<p>The debate continues as PGT-A advocates argue that there is already enough evidence to support PGT-A and that further clinical trials are unnecessary and too expensive. Also, they argue that many widely used IVF procedures, such as intracytoplasmic sperm injection (ICSI) – where a sperm is directed injected into an egg and fertilised before implantation – were never subjected to clinical trials as their benefits were immediately obvious.</p>
<p>At the core of the debate are contrasting opinions of what constitutes a well-designed, well-conducted clinical trial.</p>
<p>Aside from clinical trial evidence, there are other considerations about the cost of not providing PGT-A – in financial, medical, legal, and ethical terms. For instance, ethically, what would be the harm to patients – medical and psychological – if they had an aneuploid pregnancy, assuming PGT-A wasn’t on offer?</p>
<h2>Mosaicism</h2>
<p>Another complicating factor is “mosaic” embryos, that is, embryos containing both euploid and aneuploid cells. The latest technology, called next-generation sequencing, is so sensitive that it readily detects mosaic embryos. Some fertility experts consider this a benefit, as most mosaic embryos, if transferred, will not result in pregnancy. Others worry that, since healthy babies have been born following mosaic embryo transfer, many mosaic embryos could be unnecessarily discarded if they are classed as “abnormal”. </p>
<p>We need more research to understand how chromosomal abnormalities arise in embryos, mosaic or otherwise, and how to prevent them. One new diagnostic approach involves testing the fluid in which the embryo develops, rather than removing cells from the embryo. This fluid is thought to contain DNA from the embryo and <a href="https://www.tandfonline.com/doi/full/10.1080/07853890.2016.1254816">early results are promising</a>. </p>
<p>PGT-A can be improved, but it will never be perfect – no test is. The disagreement between PGT-A opponents and advocates is whether this test is good enough now. Unfortunately, when <a href="http://www.biochemist.org/bio/04003/0026/040030026.pdf">new evidence</a> does emerge, it always seems to further polarise opinion rather than leading to clarity and resolution. </p>
<p>Genetic counsellors are trained to demystify the complexities of issues, such as mosaicism, and explain to patients what the transfer of a mosaic embryo might mean for them. Fertility experts may continue debating the pros and cons of PGT-A, but patients can only make an <a href="http://www.biochemist.org/bio/04003/0026/040030026.pdf">informed choice</a> if provided with all of the available evidence.</p><img src="https://counter.theconversation.com/content/98057/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Darren Griffin receives funding from Cooper Genomics. </span></em></p><p class="fine-print"><em><span>Alan Thornhill works for Igenomix UK Limited. </span></em></p><p class="fine-print"><em><span>Çağrı Oğur works for Bahceci Genetic Diagnosis Center, İstanbul</span></em></p>The debate about the pros and cons of genetically screening embryos is deeply entrenched. Perhaps we should let couples decide.Darren Griffin, Professor of Genetics, University of KentAlan Thornhill, Honorary Professor of Reproductive Genetics, University of KentÇağrı Oğur, PhD Candidate, Yıldız Technical UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/984932018-06-22T15:46:03Z2018-06-22T15:46:03ZHow to make people with learning disabilities feel more included in society<p>People with learning disabilities can often find themselves feeling excluded when it comes to making decisions about their lives. This can range from everything, from shopping to making music or even bringing up a baby. Sometimes this exclusion can be exacerbated by the kind of support that they receive from social services – but it can also be countered by sensitive personal assistance or support.</p>
<p>In a recent <a href="http://www.bristol.ac.uk/sps/gettingthingschanged/">research project</a>, which brought together disabled and non-disabled researchers, we looked at ways to improve this – and how to include people with learning disabilities in decisions. </p>
<p>Part of the project found that by taking active roles in the arts, people with learning disabilities can lead the way towards meaningful inclusion. Beth Richards, an actress with learning disabilities, led part of the research about <a href="http://www.bristol.ac.uk/sps/gettingthingschanged/about-the-project/people/">people with learning disabilities on TV</a>. She found that actors with learning disabilities are often limited to roles which depict the “disability”, the tragic or dependent life of the character, or their effect on others around them. A successful actor with learning disabilities, for instance, told her:</p>
<blockquote>
<p>I wish TV makers would think more creatively and give people with learning disabilities any role – romantic, fantasy, comedy, shop assistants, office workers. I’d like to play James Bond, Romeo, Dobby in Harry Potter or a detective or many other roles.</p>
</blockquote>
<p>The Queen’s Birthday Honours in June 2018 include an MBE to the actress with Downs Syndrome, <a href="https://britishtheatre.com/actress-sarah-gordy-awarded-mbe/">Sarah Gordy</a>, for her “services to the arts and people with disabilities”. As Gordy <a href="https://www.mrcarlwoodward.com/news/sarah-gordy-ground-breaking-actress-with-downs-syndrome-awarded-an-mbe/">said upon receiving the award</a>, “diversity is an opportunity, not a problem”. She is good proof of that.</p>
<p><div data-react-class="Tweet" data-react-props="{"tweetId":"1006177338780995586"}"></div></p>
<p>But there is a lack of accessible information. There is no shortage of talented actors and drama companies supporting people with learning disabilities, but the TV industry and its workings are still shrouded in jargon. Processes such as commissioning, auditioning and scriptwriting tend to exclude those who do not have someone to help them navigate all this.</p>
<p>In another part of the research, my colleague Marina Gall looked in detail at how music making can be transformed by the <a href="https://www.openorchestras.org/">Open Orchestras approach</a> in which young people with multiple and complex needs are enabled to learn musical skills, play in ensembles and become music makers. A new technological instrument – the Clarion – can be played on computers and iPads, using one’s hand, a small sensor on any part of the body, or via a person’s gaze. It can be adapted to suit most students’ physical needs. </p>
<p>One of the co-founders of Open Orchestras, Doug Bott, told our research team, that the approach is “personalised around the individual young person”. But at the same time, it’s trying to ensure that music is an important part of the curriculum for all young people, and has been immensely successful in changing perceptions of people with learning disabilities. This is not therapy, it’s a route to making music and to performance.</p>
<h2>Making decisions</h2>
<p>People with learning disabilities also face inequalities and problems in the NHS, as well as in a cash-strapped social care system. For instance, since the <a href="https://www.gov.uk/government/publications/mental-capacity-act-code-of-practice">Mental Capacity Act 2005 </a> came into force, support staff are legally required to support people with learning disabilities to develop their own capacity to make a decision. What we saw in our data was that people with learning disabilities can be proactive in seeking out this support – and we recorded conversations with personal assistants where people wanted to talk about decisions relating to safety, health or simply about future cooking plans. The skills that a personal assistant needs to have are to listen, look out and be responsive to the people they are supporting. </p>
<p>One of the key messages from our project is that health and social care practices sometimes get stuck. We used the word “institutionalised” for those times when professionals stick to a rigid and inflexible way of doing things, leaving the disabled person without the power to have a voice. </p>
<p>These difficult moments were also highlighted by actors with learning disabilities who helped to interpret our data. Our research benefited from a collaboration with the <a href="https://misfitstheatre.com/">Misfits Theatre Company</a> in Bristol, showing how sensitive interactions between people with learning disabilities and their personal assistants were often the trigger for good decisions, and giving those with disabilities a feeling of control over their own lives. </p>
<p>But quite small comments can create problems, spoiling an empowering relationship. The theatre company made a brilliant video called <a href="http://www.bristol.ac.uk/sps/gettingthingschanged/videos/">A Good Match</a> about their own perspectives and experience of managing relationships with a personal assistant. One of the Misfits actors said: “It’s my house … and I don’t want my (personal assistant) telling me what I can and cannot do.”</p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/TY1ga-cQKTo?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
</figure>
<p>After looking at a range of activities that can exclude or include people with learning disabilities, we concluded that <a href="http://www.bristol.ac.uk/media-library/sites/sps/images/gettingthingschanged/SPT%20booklet_web.pdf">inclusion happens</a> when three things come together. Sometimes people with learning disabilities are included because of changes to technology, as in the Open Orchestras approach. At other times, they are included better because of new ways of doing something, or through new skills that they may learn – as actors, or as TV performers. </p>
<p>But at the heart of all this is a new belief in the equal value of people with learning disabilities. This is why we recommend that social care services need to <a href="https://policystudies.blogs.bristol.ac.uk/2018/03/12/disability-needs-to-be-central-in-creating-a-more-just-and-equal-society/">focus less</a> on what people cannot do, but instead promote a genuine belief in what people with learning disabilities can do – with the right support.</p><img src="https://counter.theconversation.com/content/98493/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Val Williams received funding from the Economic and Social Research Council.</span></em></p>And why the contribution of people with learning disabilities to the arts must be celebrated.Val Williams, Professor of Disability Studies , University of BristolLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/882212017-12-12T15:20:06Z2017-12-12T15:20:06ZHow parenthood has changed the way I read ancient stories of Joseph and Mary’s relationship with Jesus<figure><img src="https://images.theconversation.com/files/198615/original/file-20171211-31715-1o90jak.JPG?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Hanging church courtyard tile mural showing holy family traveling.</span> <span class="attribution"><a class="source" href="https://commons.wikimedia.org/wiki/File%3ACairo_-_Coptic_area_-_Hanging_Church_courtyard_-_tile_mural_showing_holy_family_traveling.JPG">Daniel Mayer (Own work), via Wikimedia Commons</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>As Christmas approaches, many Christians will reflect on the Nativity, or birth of Jesus. The Christian Bible includes two different stories of the birth of Jesus, found in the <a href="https://www.biblegateway.com/passage/?search=Matthew+1-2&version=NRSV">Gospel of Matthew</a> and the <a href="https://www.biblegateway.com/passage/?search=Luke+1-2&version=NRSV">Gospel of Luke</a>. But there are precious few details about the rest of his childhood in the New Testament.</p>
<p>Some Christians today may wonder, what happened next? </p>
<h2>The Infancy Gospel of Thomas</h2>
<p>I write about this question in my book, <a href="http://www.upenn.edu/pennpress/book/15736.html">“Jesus, Mary, and Joseph: Family Trouble in the Infancy Gospels</a>.” The <a href="http://www.tonyburke.ca/infancy-gospel-of-thomas/infancy-gospel-of-thomas-greek-s/">Infancy Gospel of Thomas</a>, a key source for my book, describes the childhood of Jesus. It is “extracanonical,” meaning that it cannot be found in copies of the Bible belonging to the main branches of Christianity. </p>
<p>It is not a source for the historical Jesus. What it reveals instead is the early Christian imagination. It was read widely by ancient Christians, who copied the stories and translated them into a number of different languages: <a href="http://www.nasscal.com/e-clavis-christian-apocrypha/infancy-gospel-of-thomas/">Greek, Latin, Syriac, Arabic, to name a few</a>.</p>
<p>The Infancy Gospel of Thomas includes stories about the child Jesus between the ages of five and 12. The contents of this gospel might trouble many modern-day Christians, who picture Jesus, even in childhood, as a perfect being. </p>
<p>While the child Jesus performs blessings, healing his brother, James, for example, from a snakebite, he also gets into trouble. Jesus curses and hurts other children. He gets a bad reputation. When a playmate named Zeno falls from a roof and dies, his parents accuse Jesus of pushing Zeno from the roof. But Jesus brings the dead boy back to life. The parents of Zeno praise God and the young savior.</p>
<h2>Jesus, age 12</h2>
<p>If readers are confused by the behavior of the child Jesus in the Infancy Gospel of Thomas, they are in the same position as his parents. Mary and Joseph don’t understand him. </p>
<p>The final episode of the Infancy Gospel of Thomas is an echo of the single childhood story about Jesus in the New Testament. In the <a href="https://www.biblegateway.com/passage/?search=Luke+2%3A41-52&version=NRSV">Gospel of Luke</a>, the holy family nearly splits up. Jesus, 12 years old at the time, goes with his parents to Jerusalem to celebrate Passover. Afterwards, Mary and Joseph head back home. But not Jesus.</p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/198617/original/file-20171211-31715-1wmkeqj.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/198617/original/file-20171211-31715-1wmkeqj.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=388&fit=crop&dpr=1 600w, https://images.theconversation.com/files/198617/original/file-20171211-31715-1wmkeqj.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=388&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/198617/original/file-20171211-31715-1wmkeqj.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=388&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/198617/original/file-20171211-31715-1wmkeqj.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=487&fit=crop&dpr=1 754w, https://images.theconversation.com/files/198617/original/file-20171211-31715-1wmkeqj.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=487&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/198617/original/file-20171211-31715-1wmkeqj.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=487&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The Finding of the Saviour in the Temple.</span>
<span class="attribution"><a class="source" href="https://en.wikipedia.org/wiki/File:William_Holman_Hunt_-_The_Finding_of_the_Saviour_in_the_Temple.jpg">William Holman Hunt via Wikimedia Commons.</a></span>
</figcaption>
</figure>
<p>He stays in Jerusalem without permission. Traveling home, Mary and Joseph suddenly realize that Jesus is missing. Three days into the search they find the child in the temple in Jerusalem, teaching the grownups. Mary scolds Jesus for upsetting them, </p>
<blockquote>
<p>“Child, why have you treated us like this? Look, your father and I have been searching for you in great anxiety.” </p>
</blockquote>
<p>Jesus replies,</p>
<blockquote>
<p>“Why were you searching for me? Did you not know that I must be in my Father’s house?” </p>
</blockquote>
<p>Jesus shrugs off Mary’s worry and all but ignores Joseph, speaking instead of his divine father. His words leave Mary and Joseph at a loss as they do not understand what he said to them.</p>
<h2>Far from the tree</h2>
<figure class="align-right ">
<img alt="" src="https://images.theconversation.com/files/198618/original/file-20171211-31706-62feqx.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/198618/original/file-20171211-31706-62feqx.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=769&fit=crop&dpr=1 600w, https://images.theconversation.com/files/198618/original/file-20171211-31706-62feqx.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=769&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/198618/original/file-20171211-31706-62feqx.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=769&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/198618/original/file-20171211-31706-62feqx.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=966&fit=crop&dpr=1 754w, https://images.theconversation.com/files/198618/original/file-20171211-31706-62feqx.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=966&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/198618/original/file-20171211-31706-62feqx.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=966&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Jordaens’s ‘Return of the Holy Family from Egypt.’</span>
<span class="attribution"><a class="source" href="https://en.wikipedia.org/wiki/File:Jordaens_Return_of_the_Holy_Family_from_Egypt.jpg">Jacques Jordaens via Wikimedia Commons.</a></span>
</figcaption>
</figure>
<p>I suspect that Mary and Joseph’s failure to understand Jesus is the element that will resonate most strongly with modern readers. It reminds me of <a href="http://andrewsolomon.com/">Andrew Solomon’s</a> powerful book, <a href="https://books.google.com/books/about/Far_From_the_Tree.html?id=gxl5BAAAQBAJ">“Far From the Tree: Parents, Children, and the Search for Identity</a>,” which describes parents and children who seem to be separated by profound differences. </p>
<p>In one chapter Solomon describes the experiences of parents of deaf children. In another, he portrays the challenges faced by families with children born with Down syndrome. What Solomon uncovers through these case studies is “the profound unknowability of even the most intimate human relationship.”</p>
<p>Yet, as Solomon observes, differences can strengthen rather than weaken bonds. Differences that push us to the limits of understanding can nevertheless teach us how to love.</p>
<p>Solomon’s chapter on Down syndrome hits close to home. I am the father of two children, one who was born with Down syndrome and one who was born without an extra chromosome. On rare days the stars align, and I know exactly what to say or do as a parent. Most of the time I am uncertain. Sometimes, I am deeply confused. Yet, like Andrew Solomon, I think love is built from all of these moments.</p>
<p>Perhaps a similar message can be found in the story of the 12-year-old Jesus. Is he “far from the tree”? Uncertain after the scene in Jerusalem, Mary, Joseph and Jesus return home together. Family is not a clearly defined structure in the story: It isn’t biologically based or reflective of some “norm.” It is instead a choice to stick together, come what may. </p>
<p>This Christmas, stories about the baby Jesus will get most of the attention. But spare a thought for the tween-age Jesus and his confused parents. They don’t always understand him. </p>
<p>They love him anyway.</p><img src="https://counter.theconversation.com/content/88221/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Christopher A. Frilingos does not work for, consult, own shares in or receive funding from any company or organization that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>Family is not a clearly defined structure in the story: It isn’t biological or reflective of some ‘norm.’ It is instead a choice to stick together, come what may.Christopher A. Frilingos, Associate Professor in the Department of Religious Studies, Michigan State UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/870832017-11-16T19:10:53Z2017-11-16T19:10:53ZWhat prospective parents need to know about gene tests such as ‘prepair’<figure><img src="https://images.theconversation.com/files/194903/original/file-20171115-19789-17t9dhk.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Couples who are carriers of genes for recessive diseases don't show any symptoms.</span> <span class="attribution"><a class="source" href="https://unsplash.com/photos/7tGqLzHcjZ8">Photo by Drew Hays on Unsplash</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span></figcaption></figure><p>Researchers <a href="http://www.theage.com.au/victoria/most-wouldbe-parents-carrying-severe-genetic-disorders-are-unaware-20171102-gzd9vi.html">recently renewed calls</a> for all prospective parents to be offered testing for gene mutations that could be transferred to their child. This came after a study published in the journal <a href="https://www.nature.com/articles/gim2017134.epdf?referrer_access_token=vUswM29CZMNFQjzlclpL0NRgN0jAjWel9jnR3ZoTv0N5FKXZRBZzyrsg1x6BF7gWGcq5yVwW6B0Wzooc5EJ8jwvZGqeMfDai5LT6rCSx7IvdvZnxf-N9ynrk32fv6HJKo3FAyW2FI-QIvTbeQ4LGYR4_DuoStR47YWScTuzSRV0hsyl2RVimGDZfIS59fKHA7ZCVGkvi8y69kpbBRc13KXarZyJdI8loMbJS0V2j-MbP8JB2cuFZCfUU2hf6BXso9sBbqLbM2T6NhghxXvXV1Q%3D%3D&tracking_referrer=www.abc.net.au">Genetics in Medicine</a> found 88% of couples weren’t aware they were carrying mutations for three serious diseases: cystic fibrosis, spinal muscular atrophy and fragile X syndrome. </p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=900&fit=crop&dpr=1 600w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=900&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=900&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1130&fit=crop&dpr=1 754w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1130&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/194914/original/file-20171115-19823-xhiz6k.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1130&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Diseases like cystic fibrosis have significant health consequences.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<p>These three diseases have significant health consequences and are among the most common recessive diseases. This is where only one parent carries a copy of the gene mutation (both parents need a copy for the child to become sick) and shows no symptoms. A healthy individual who carries a single recessive mutation is called a carrier. </p>
<p>Recessive diseases cause many severe disorders in children, but most of us who are healthy carriers <a href="https://www.ncbi.nlm.nih.gov/pubmed/21228398?dopt=Citation">don’t know</a> how many or what mutations we carry. Pre-pregnancy or <a href="https://theconversation.com/explainer-what-is-pre-pregnancy-carrier-screening-and-should-potential-parents-consider-it-79184">preconception carrier screening</a> allows healthy couples to identify mutations they carry before they become pregnant. </p>
<p>So, what is the test used in the recent study, and should it be available to all prospective parents?</p>
<h2>What genetic tests are available?</h2>
<p>The recent study used the “<a href="https://www.vcgs.org.au/tests/prepair">prepair™ test</a>” to screen couples. It was conducted by the Victorian Clinical Genetics Service (VCGS), which provides the test to the public. The number of pregnancies affected with one of these three diseases (cystic fibrosis, spinal muscular atrophy and fragile X syndrome) during the course of the study was one in every 1,006 women. This figure is comparable to that of live births affected by <a href="http://www.who.int/genomics/public/geneticdiseases/en/index1.html">Down syndrome</a>. </p>
<p>Currently, <a href="https://www.alrc.gov.au/publications/10-genetic-testing/access-genetic-testing">government subsidies</a> for genetic testing and counselling are only available for couples once they have had a child with a suspected inherited disease or if there is a history for a particular disease in the extended family.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/why-should-we-offer-screening-for-down-syndrome-anyway-30351">Why should we offer screening for Down syndrome anyway?</a>
</strong>
</em>
</p>
<hr>
<p>Aside from the VCGS, there are at least five other providers in most Australian eastern states offering tests for different sets of recessive disorders. All five are consumer-pays tests. They range from A$350 to A$750, depending on the number of genes tested. </p>
<p>The largest gene panel tests for <a href="https://www.ivf.com.au/about-fertility/how-to-get-pregnant/preconception-screen">590 diseases</a> and costs the most, while <a href="https://www.sonicgenetics.com.au/tests/preconception-carrier-screening-panel-cf-sma-fragile-x/">others</a> only test for the same three recessive diseases VCGS offers. Another test screening for 175 recessive conditions is provided by <a href="https://www.counsyl.com/services/foresight/">Counsyl</a> through Australian clinicians.</p>
<h2>What can I expect from the prepair™ test?</h2>
<p>The VCGS prepair™ screens for specific mutations in the three genes causing the three diseases. Couples or individuals are considered at “increased risk” if they both carry a mutation for the same one of the three screened diseases. </p>
<p>The VCGS prepair™ genetic test is usually first offered to women before, or early, in their pregnancy (less than 12 weeks) by health professionals. These are usually GPs and obstetricians, as they are generally the first point of medical contact for soon-to-be-parents. Partners of carrier women are then offered testing.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=857&fit=crop&dpr=1 600w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=857&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=857&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1077&fit=crop&dpr=1 754w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1077&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/194908/original/file-20171115-19841-zws4gl.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1077&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">If each member of the couple carry the gene mutation for the same disease, their child has a 25% chance of the disorder.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<p>All carriers are offered a genetic counselling appointment and an appointment with a paediatric sub-specialist who has expertise in the specific disease. Results are also discussed with the referring health professional. For individuals or couples not identified as carriers, the report is sent to the referring health professional and no further testing or follow-up is required. </p>
<p>If couples are carriers for mutations in the same gene, any of their children have a 25% chance of being affected by the disease. If couples do not carry any of the mutations the VCGS test screens for, they are considered at “low risk” of having an affected child. </p>
<p>But while the risk of having a child affected by a genetic mutation is greatly reduced, it is not eliminated. The main benefit of tests screening for hundreds of genes is that a couple can know their carrier status for many more recessive diseases. </p>
<h2>How can couples use the test to make decisions?</h2>
<p>Understanding what it means to be a carrier and a high-risk couple allows prospective parents to decide how they want to approach conception and pregnancy. At-risk couples and those with a previous history of recessive disease frequently want to <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149658/">avoid having an affected child</a>. Couples may then opt for in-vitro fertilisation (IVF) to select only healthy embryos (without two mutations) for implantation. </p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/rest-assured-ivf-babies-grow-into-healthy-adults-23432">Rest assured, IVF babies grow into healthy adults</a>
</strong>
</em>
</p>
<hr>
<p>Couples may also decide to fall pregnant naturally and then test the fetus, through a test called <a href="http://www.pregnancybirthbaby.org.au/chorionic-villus-sampling-cvs">chorionic villus sampling</a>, towards the end of the first trimester to determine whether the baby carries two mutations. Or they may decide to adopt or forego having children. </p>
<figure>
<iframe width="440" height="260" src="https://www.youtube.com/embed/ZkOLTfEyLXg?wmode=transparent&start=0" frameborder="0" allowfullscreen=""></iframe>
<figcaption><span class="caption">TedXTalks.</span></figcaption>
</figure>
<p>If a couple decide to continue a pregnancy, knowing ahead of time their baby will be affected allows them time to process and make lifestyle plans to accommodate for their changing circumstances and engage with support groups. Rare disease groups such as <a href="https://smaaustralia.org.au/support-services/">Spinal Muscular Atrophy Australia</a> provide support in care options, resources and choices for families living with spinal muscular atrophy. If therapies are available, it also allows for <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3392137/">treatment of the disease from birth</a>. </p>
<p>As no screening test guarantees a healthy baby, genetic counselling is crucial to explain the limitations and risks to couples. <a href="https://www.youtube.com/watch?v=7yIW0L9dLCQ">Counselling</a> involves communicating complex genetic information clearly to couples, clarifying any doubts and misconceptions and more importantly to interpret and explain test results. </p>
<h2>Should all couples have this test?</h2>
<p>Our experience shows access to this kind of genetic testing can be challenging. Generally this is because health care professionals can be unaware such tests are available locally; or be unfamiliar with how blood should be collected, or where to send specimens for testing. </p>
<p>Preconception carrier screening tests have also been confused with other prenatal tests, particularly the non-invasive prenatal test (<a href="https://theconversation.com/australians-can-be-denied-life-insurance-based-on-genetic-test-results-and-there-is-little-protection-81335">NIPT</a>), by both parents and health care professionals. In this situation, parents may feel reassured their child does not have a genetic disease, but NIPT only tests for chromosomal problems (like Down Syndrome or trisomy 21) not single gene disorders. </p>
<p>This clearly shows awareness and education is critical among health care workers for preconception carrier screening programs to be successful.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/explainer-what-is-pre-pregnancy-carrier-screening-and-should-potential-parents-consider-it-79184">Explainer: what is pre-pregnancy carrier screening and should potential parents consider it?</a>
</strong>
</em>
</p>
<hr>
<p>Given the risk for an affected child for the three common recessive diseases is similar to Down syndrome, it may be considered carrier screening should be made available to everyone in Australia. But there are a number of issues that need to be addressed for this to happen.</p>
<p>These include consideration of the number of severe childhood disorders to be included for screening and who the target population would be. Studies are also required to inform the government of the most cost-effective method of offering such a test. </p>
<p>If a carrier screening program is to be implemented by the government, the infrastructure and clinical resources required to appropriately administer and sustain such testing must be explored to ensure all couples are informed and counselled as required. And <a href="http://www.health.gov.au/internet/msac/publishing.nsf/Content/17BAA5247F22729DCA25801000123C2C/$File/1165.1-FinalPSD-accessible.pdf">subsidy</a> of pre-implantation genetic diagnosis should also be considered for all carrier couples. </p>
<p>Pilot studies in different states may help explore how best a carrier screening program can fit into the different health systems in Australia.</p><img src="https://counter.theconversation.com/content/87083/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Gina Ravenscroft receives funding from the National Health and Medical Research Council and the French Muscular Dystrophy Association (AFM). </span></em></p><p class="fine-print"><em><span>Michelle Farrar receives funding from Motor Neuron Diseases Research Institute of Australia </span></em></p><p class="fine-print"><em><span>Nigel Laing receives funding from The Australian National Health and Medical Research Council (NHMRC), the Association Francaise contre les Myopathies (AFM), the US Muscular Dystrophy Association (MDA), a Foundation Building Strength for Nemaline Myopathy (AFBS).
</span></em></p><p class="fine-print"><em><span>Royston Ong receives scholarship funding from the Australian Postgraduate Award and the Australian Genomic Health Alliance. </span></em></p>Cystic fibrosis, spinal muscular atrophy and fragile X syndrome are serious diseases, and most couples carrying the genetic mutations for these don’t know it. Should they all be tested?Gina Ravenscroft, Research Fellow in neuromuscular disease and genetics, The University of Western AustraliaMichelle Farrar, Senior lecturer in Paediatric Neurology, UNSW SydneyNigel Laing, Professor, The University of Western AustraliaRoyston Ong, Phd Student in Population Genetics, The University of Western AustraliaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/837122017-09-11T05:42:21Z2017-09-11T05:42:21ZNew autism diagnosis guidelines miss the mark on how best to help children with developmental problems<figure><img src="https://images.theconversation.com/files/185416/original/file-20170911-19215-1pbeotn.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Autism has become a default consideration for any child who struggles socially, behaviourally, or with sensory stimuli.</span> <span class="attribution"><span class="source">from shutterstock.com</span></span></figcaption></figure><p>The first <a href="https://www.autismcrc.com.au/sites/default/files/inline-files/Australian%20National%20Guideline%20for%20ASD%20Assessment%20-%20Draft%20Version%20for%20Community%20Consultation_0.pdf">national guidelines</a> for diagnosing autism were released for public consultation last week. The report by research group <a href="https://www.autismcrc.com.au/get-involved/participate-study/national-guideline-now-open-community-consultation">Autism CRC</a> was commissioned and funded by the National Disability Insurance Scheme (<a href="https://www.ndis.gov.au/news/australias-First-National-Guideline-for-Autism--Diagnosis.html">NDIS</a>) in October 2016. </p>
<p>The NDIS has taken over the running of federal government <a href="https://www.dss.gov.au/our-responsibilities/disability-and-carers/program-services/for-people-with-disability/early-intervention-services-for-children-with-disability">early intervention programs</a> that provide specialist services for families and children with disabilities. In doing so, they have inherited the problem of <a href="http://www.a4.org.au/sites/default/files/Autism%20CRC%20Report%20-%20Diagnostic%20Standards%20for%20Autism%20(1).pdf">diagnostic variability</a>. Biological diagnoses are definable. The genetic condition <a href="https://fragilex.org.au/what-is-fragile-x/">fragile X xyndrome</a>, for instance, which causes intellectual disability and development problems, can be diagnosed using a blood test. </p>
<p>Autism diagnosis, by contrast, is imprecise. It’s based on a child’s behaviour and function at a point in time, benchmarked against age expectations and comprising multiple simultaneous components. Complexity and imprecision arise at each stage, implicit to the condition as well as the process. So, it makes sense the NDIS requested an objective approach to autism diagnosis.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/the-difficulties-doctors-face-in-diagnosing-autism-53731">The difficulties doctors face in diagnosing autism</a>
</strong>
</em>
</p>
<hr>
<p>The presumption of the Autism CRC report is that standardising the method of diagnosis will address this problem of diagnostic uncertainty. But rather than striving to secure diagnostic precision in the complexity and imprecision of the real world, a more salient question is how best to help children when diagnostic uncertainty is unavoidable. </p>
<h2>What’s in the report?</h2>
<p>The report recommends a two-tiered diagnostic strategy. The first tier is used when a child’s development and behaviour clearly meet the diagnostic criteria. </p>
<p>The process proposed does not differ markedly from current recommended practice, with one important exception. Currently, the only professionals who can “sign off” on a diagnosis of autism are certain medical specialists such as paediatricians, child and adolescent psychiatrists, and neurologists. The range of accepted diagnosticians has now been expanded to include allied health professionals such as psychologists, speech pathologists and occupational therapists.</p>
<p>This exposes the program to several risks. Rates of diagnosed children may further increase with greater numbers of diagnosticians. Conflict of interest may occur if diagnosticians potentially receive later benefit as providers of funded treatment interventions. And while psychologists and other therapists may have expertise in autism, they may not necessarily recognise the important conditions that can present similarly to it, as well as other problems the child may have alongside autism.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/185431/original/file-20170911-28525-1caehw2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/185431/original/file-20170911-28525-1caehw2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/185431/original/file-20170911-28525-1caehw2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/185431/original/file-20170911-28525-1caehw2.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/185431/original/file-20170911-28525-1caehw2.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/185431/original/file-20170911-28525-1caehw2.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/185431/original/file-20170911-28525-1caehw2.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/185431/original/file-20170911-28525-1caehw2.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">The new autism diagnosis guidelines expand the types of health professionals who can ‘sign off’ on a diagnosis.</span>
<span class="attribution"><span class="source">from shutterstock.com</span></span>
</figcaption>
</figure>
<p>The second recommended tier of diagnosis is for complex situations, when it is not clear a child meets one or more diagnostic criteria. In this case, the report recommends assessment and agreement by a set of professionals – known as a multidisciplinary assessment. This poses important challenges:</p>
<ul>
<li><p>Early intervention starts early. Multidisciplinary often means late, with <a href="https://www.google.com.au/url?sa=t&rct=j&q=&esrc=s&source=web&cd=7&ved=0ahUKEwjL6IXIlpzWAhXDGJQKHbMICGEQFghHMAY&url=http%3A%2F%2Fwww.a4.org.au%2Fsites%2Fdefault%2Ffiles%2FAutism%2520CRC%2520Report%2520-%2520Diagnostic%2520Standards%2520for%2520Autism%2520(1).pdf&usg=AFQjCNHT5tfZcaZLV3wgBYxRpDy0xaxhZw">delays on waiting lists</a> for limited services. This is likely to worsen if more children require this type of assessment.</p></li>
<li><p>Multidisciplinary assessments are expensive. If health systems pay, capacity to subsequently help children in the health sector will be correspondingly reduced.</p></li>
<li><p>Groups of private providers may set up diagnostic one-stop shops. This may inadvertently discriminate against those who can’t pay and potentially bias towards diagnosis for those who can.</p></li>
<li><p>Multidisciplinary assessments discriminate against those in regional and rural areas, where professionals are not readily available. Telehealth (consultation over the phone or computer) is a poor substitute for direct observation and interaction. Those in rural and regional areas are already disadvantaged by limited access to intervention services, so diagnostic delays present an additional obstacle.</p></li>
</ul>
<p>A diagnostic approach reflects a deeper, more fundamental problem. Methodological rigour is necessary for academic research validity, with the assumption autism has distinct and definable boundaries. </p>
<p>But consider two children almost identical in need. One just gets over the diagnostic threshold, the other not. This may be acceptable for academic studies, but it’s not acceptable in community practice. An arbitrary diagnostic boundary does not address complexities of need.</p>
<h2>We’re asking the wrong question</h2>
<p>The federal government’s first initiative to fund early intervention services for children diagnosed with autism was introduced in 2008. The <a href="http://raisingchildren.net.au/articles/hcwa_funding_partner.html">Helping Children With Autism</a> program provided A$12,000 for each diagnosed child, along with limited services through Medicare. </p>
<p>The <a href="http://www.betterstart.net.au/what-is-better-start/">Better Start</a> program was introduced later in 2011. Under Better Start, intervention programs also became available for children diagnosed with cerebral palsy, Down syndrome, fragile X syndrome and hearing and vision impairments.</p>
<p>While this broadened the range of disabilities to be funded, it did not address the core problem of <a href="https://www.ncbi.nlm.nih.gov/pubmed/22250827">discrimination by diagnosis</a>. This is where children who have equal needs but who for various reasons aren’t officially diagnosed are excluded from support services. Something is better than nothing, however, and these programs have helped about <a href="https://www.dss.gov.au/our-responsibilities/disability-and-carers/program-services/for-people-with-disability/early-intervention-services-for-children-with-disability">60,000</a> children at a cost of over A$400 million. </p>
<p>Yet the NDIS now also faces a philosophical challenge. The <a href="https://www.ndis.gov.au/about-us/what-ndis">NDIS</a> considers funding based on a person’s ability to function and participate in life and society, <a href="https://www.ndis.gov.au/news/australias-First-National-Guideline-for-Autism--Diagnosis.html">regardless of diagnosis</a>. By contrast, entry to both these early intervention programs is determined by diagnosis, irrespective of functional limitation.</p>
<hr>
<p>
<em>
<strong>
Read more:
<a href="https://theconversation.com/understanding-the-ndis-will-parents-of-newly-diagnosed-children-with-disability-be-left-in-the-dark-60795">Understanding the NDIS: will parents of newly diagnosed children with disability be left in the dark?</a>
</strong>
</em>
</p>
<hr>
<p>While funding incentives cannot change prevalence of fragile X syndrome in our community (because of its biological certainty), rates of autism diagnoses have <a href="http://a4.org.au/node/1340">more than doubled</a> since the <a href="http://raisingchildren.net.au/articles/hcwa_funding_partner.html">Helping Children with Autism</a> program began in 2008. Autism has become a default consideration for any child who struggles socially, behaviourally, or with sensory stimuli.</p>
<p>Clinicians have developed alternative ways of thinking about this “grey zone” problem. One strategy is to provide support in proportion to functional need, in line with the NDIS philosophy. </p>
<p>Another strategy is to undertake response-to-intervention. This is <a href="https://www.understood.org/en/school-learning/special-services/rti/understanding-response-to-intervention">well developed in education</a>, where support is provided early and uncertainty is accepted. By observing a child’s pattern and rate of response over time, more information emerges about the nature of the child’s ongoing needs. </p>
<p>The proposed assessment strategy in the Autism CRC report addresses the question, “does this child meet criteria for autism?”. This is not the same as “what is going on for this child, and how do we best help them?”. And those are arguably the more important questions for our children.</p>
<hr>
<p><em>This article was co-authored by Dr Jane Lesslie, a specialist developmental paediatrician. Until recently she was vice president of the <a href="https://nbpsa.org/">Neurodevelopmental and Behavioural Paediatric Society of Australasia</a>.</em></p><img src="https://counter.theconversation.com/content/83712/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Michael McDowell has received funding from the NHMRC, and several pharmaceutical companies for research and speaking engagements. He was the Foundation President of the NBPSA, the Australasian professional society for Developmental Paediatricians, and remains affiliated with this organisation.</span></em></p>There are several problems with the recently released guidelines for diagnosing autism. But the fundamental issue is that we’re striving for diagnosis first, and help later.Michael McDowell, Associate Professor, The University of QueenslandLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/791842017-07-14T03:55:40Z2017-07-14T03:55:40ZExplainer: what is pre-pregnancy carrier screening and should potential parents consider it?<figure><img src="https://images.theconversation.com/files/174848/original/file-20170621-30205-w9lr1u.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Couples thinking about kids can be screened for genes that may cause disease in their offspring.</span> <span class="attribution"><a class="source" href="https://unsplash.com/search/couple-holding-hands?photo=qFEqgc9X3fw">Redd Angelo, Unsplash</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>The American College of Obstetricians and Gynecologists <a href="https://www.ncbi.nlm.nih.gov/pubmed/28225425">recently recommended</a> obstetricians, gynaecologists and other related health care providers offer pre-pregnancy carrier screening for genetic diseases to all patients. </p>
<p>Pre-pregnancy carrier screening involves testing healthy adults for the presence of gene mutations that cause diseases that are not present in them, but if both parents have the same recessive gene, could eventuate in their children. This includes diseases such as cystic fibrosis and muscular dystrophies.</p>
<h2>Who are genetic carriers?</h2>
<p>If both partners in a couple carry the same recessive disease, then the couple have a one in four chance of a child with that disease. Carrier couples may therefore have multiple affected children. Some recessive diseases are relatively mild but others are severe, including <a href="https://www.ncbi.nlm.nih.gov/pubmed/26578207">many that cause death</a> at or shortly after birth. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/173964/original/file-20170615-23528-bx9vdf.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/173964/original/file-20170615-23528-bx9vdf.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=600&fit=crop&dpr=1 600w, https://images.theconversation.com/files/173964/original/file-20170615-23528-bx9vdf.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=600&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/173964/original/file-20170615-23528-bx9vdf.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=600&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/173964/original/file-20170615-23528-bx9vdf.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=754&fit=crop&dpr=1 754w, https://images.theconversation.com/files/173964/original/file-20170615-23528-bx9vdf.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=754&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/173964/original/file-20170615-23528-bx9vdf.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=754&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Autosomal recessive inheritance of harmful mutations.</span>
<span class="attribution"><span class="source">from National Library of Medicine</span></span>
</figcaption>
</figure>
<p>Newton Morton, one of the founders of genetic epidemiology, <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC528351/">estimated from population data as long ago as 1956</a> that each of us is a carrier of three to five lethal recessive mutations and this has been <a href="https://www.ncbi.nlm.nih.gov/pubmed/21228398?dopt=Citation">confirmed by more recent research</a>. This means we are all carriers of something, but most of us are generally unaware of our carrier status unless we have an affected child.</p>
<h2>Pre-pregnancy carrier screening</h2>
<p>Historically, pre-pregnancy carrier screening programs have been tailored for specific population groups who are more likely to have a recessive disease. For example, the recessive brain condition Tay-Sachs disease, which is usually fatal in early childhood, has a high incidence in the Ashkenazi-Jewish community.</p>
<p><a href="https://www.ncbi.nlm.nih.gov/pubmed/5793973">In 1969</a> it was discovered the loss of an enzyme (called hexosaminidase A) causes the disease. This led to the development of tests allowing carriers for Tay-Sachs disease to be identified. The first pre-pregnancy carrier screening programs in the Ashkenazi population followed in the 1970s. Since then the incidence of Tay-Sachs disease has <a href="https://www.ncbi.nlm.nih.gov/pubmed/8230592">reduced by more than 90%</a>. </p>
<p>Other such targeted pre-pregnancy carrier screening programs exist in other parts of the world. For example in Mediterranean countries where there is a high rate of the recessive blood disease thalassaemia, pre-pregnancy carrier screening was offered and this <a href="https://www.ncbi.nlm.nih.gov/pubmed/12108831?dopt=Abstract&holding=npg">also resulted in a reduction</a> in the incidence of the disease.</p>
<p>Today, the country with the most comprehensive pre-pregnancy carrier screening program is Israel. It introduced <a href="https://www.ncbi.nlm.nih.gov/pubmed/25880436">a national program in 2003</a> and by 2015, the program was screening approximately 60,000 people annually for nearly 100 recessive conditions. The Israeli program is tailored to the different ethnic groups in the country, but also includes diseases common in all ethnic groups such as spinal muscular atrophy. </p>
<p>Diagnostic laboratories around the world are now using <a href="https://www.ncbi.nlm.nih.gov/pubmed/27159402">technology that can sequence multiple individuals</a> for hundreds of disorders at once. This technology is used to diagnose many <a href="https://www.ncbi.nlm.nih.gov/pubmed/25473036">different types of genetic diseases</a> and is <a href="https://www.nature.com/articles/s41525-017-0006-7">more effective than standard diagnostic testing</a>. It <a href="https://www.ncbi.nlm.nih.gov/pubmed/21228398?dopt=Citation">has also been investigated</a> for carrier screening and can detect carriers of multiple recessive disorders.</p>
<h2>Benefits</h2>
<p>When pre-pregnancy carrier screening programs are introduced, they <a href="https://www.ncbi.nlm.nih.gov/pubmed/19390864">reduce death and disease associated with the screened diseases</a>. They can save families from experiencing the tragedy of a child affected by a significant genetic disease. They also reduce the burden of recessive disease <a href="https://www.ncbi.nlm.nih.gov/pubmed/26766846">within the population as a whole</a>.</p>
<figure class="align-center zoomable">
<a href="https://images.theconversation.com/files/174849/original/file-20170621-30165-1mrwebd.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/174849/original/file-20170621-30165-1mrwebd.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/174849/original/file-20170621-30165-1mrwebd.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/174849/original/file-20170621-30165-1mrwebd.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/174849/original/file-20170621-30165-1mrwebd.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/174849/original/file-20170621-30165-1mrwebd.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/174849/original/file-20170621-30165-1mrwebd.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/174849/original/file-20170621-30165-1mrwebd.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Everyone wants a healthy baby.</span>
<span class="attribution"><a class="source" href="https://unsplash.com/search/baby?photo=WCbCRXk7nmU">Carlo Navvaro/Unsplash</a>, <a class="license" href="http://creativecommons.org/licenses/by/4.0/">CC BY</a></span>
</figcaption>
</figure>
<p>Each recessive disease is rare but there are hundreds of recessive diseases and so collectively they have wide-ranging social and economic impacts. A <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5027688/">study of 50 severe recessive diseases</a> found their collective incidence to be greater than that of Down syndrome (one in 600 compared to one in 1,100). </p>
<p>So pre-pregnancy carrier screening programs that include many genetic diseases, as now recommended by the American College, would maximise knowledge of <a href="https://www.ncbi.nlm.nih.gov/pubmed/27533158">genetic risk for couples</a>. </p>
<h2>Limitations</h2>
<p>When testing genes, some identified variations are definitely harmful while most are definitely harmless. But for some variations we can’t be sure if they are harmful, and whether or not they will cause disease in any children. </p>
<p>And some mutations, called <em>de novo</em> mutations, arise spontaneously during the development of a child. These mutations cannot be detected by pre-pregnancy screening. </p>
<p>So while the risk of having an affected child is reduced by pre-pregnancy carrier screening, it is not eliminated. </p>
<p>There are no guarantees that pre-pregnancy screening will result in a healthy baby, but it will allow couples options to reduce the burden of disease associated with known disease-causing mutations.</p>
<p>Counselling is required before and after the test to explain the risks to couples. </p>
<p>There is little health risk from the test, no more than the risk associated with taking a blood sample. The cost may be prohibitive for many couples, though. While it depends on the number of genes screened, costs may be <a href="https://www.seattlespermbank.com/counsyl-carrier-screening/">several hundred dollars per person</a>.</p>
<h2>Can and should we have testing in Australia?</h2>
<p>A small number of targeted pre-pregnancy carrier screening programs have been in place in Australia for a number of years including for Ashkenazi populations, for individuals with a family history of various diseases, and in IVF clinics. In Victoria the Victorian Clinical Genetics Service offers <a href="https://www.vcgs.org.au/tests/prepair">private pre-pregnancy carrier screening</a>. </p>
<p>Several Australian groups, such as the <a href="https://www.australiangenomics.org.au/">Australian Genomics Health Alliance</a>, are researching ways to screen larger numbers of genes. It remains to be seen if <a href="https://www.ranzcog.edu.au">Australian</a> <a href="https://www.hgsa.org.au/">bodies</a> will make similar recommendations to those in the US.</p><img src="https://counter.theconversation.com/content/79184/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Gina Ravenscroft receives funding from the NHMRC, WA Department of Health and the French Muscular Dystrophy Association (AFM).</span></em></p><p class="fine-print"><em><span>Nigel Laing receives funding from the NHMRC, WA Department of Health, AFM (French Muscular Dystrophy Association), USMDA (US Muscular Dystrophy Association), Perpetual, MND Australia and AFBS (The Foundation Building Strength for Nemaline Myopathy).</span></em></p><p class="fine-print"><em><span>Royston Ong receives funding from the Australian Postgraduate Award. </span></em></p>Most of us will be carriers of recessive genes that cause disease. If our partner carries the same gene we could pass it on to our kids. Testing exists, but what are the pros and cons?Gina Ravenscroft, Research Fellow in neuromuscular disease and genetics, The University of Western AustraliaNigel Laing, Professor, The University of Western AustraliaRoyston Ong, Phd Student in Population Genetics, The University of Western AustraliaLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/795462017-07-05T11:12:25Z2017-07-05T11:12:25ZParents take note: even minor sleep problems can
lead to cognitive difficulties in children<figure><img src="https://images.theconversation.com/files/176780/original/file-20170704-29276-1y8er8j.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">
</span> <span class="attribution"><span class="source">shutterstock</span></span></figcaption></figure><p>We all know that a good night’s sleep is important, but from snoring to night-time waking, sleepwalking to insomnia, <a href="http://www.aasmnet.org/Resources/PracticeParameters/Review_NightWakingsChildren.pdf">sleep problems</a> in childhood are common.</p>
<p><a href="https://pdfs.semanticscholar.org/ec57/e193dd7e7c1855abaf0f005a4896ab02187c.pdf">Sleep has many roles</a>, from supporting the development of the brain and strengthening neural pathways to helping the immune system – and disrupted sleep leads to multiple physical and psychological problems. Even in infancy and very early childhood, sleep problems are related to <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768951/">poorer mental and motor development</a>, meaning that by the time children start school those with sleep problems are <a href="https://www.ncbi.nlm.nih.gov/pubmed/17689143">already falling behind</a> their classmates.</p>
<p>Around <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3217667/">20-30% of children</a> are thought to experience some kind of sleep problem. One of the most common is sleep-disordered breathing, which ranges from snoring to full-blown obstructive sleep apnoea syndrome (OSA). This is a disorder where the upper airway becomes blocked which causes difficulty breathing during sleep. Just because a child snores doesn’t necessarily mean they have OSA – so, while around <a href="http://pubmedcentralcanada.ca/pmcc/articles/PMC1029917/pdf/archdisch00567-0081.pdf">12% of children snore</a>, only around <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004499/">3% have OSA</a>. </p>
<p>Children who do have OSA usually wake up a lot during the night because they are struggling to breathe. They might also have severe dips in their blood oxygen levels caused by the pauses in breathing. This reduces oxygen delivery to tissues and cells in the body – including the brain. </p>
<p>Having this type of sleep problem has been shown to cause cognitive difficulties, which can impact children’s ability to think, pay attention, process information and remember things. Research has also shown that children with sleep-disordered breathing have lower IQs and tend to do <a href="https://www.ncbi.nlm.nih.gov/pubmed/21493135">less well at school</a>.</p>
<h2>Sleep tight</h2>
<p><a href="http://onlinelibrary.wiley.com/doi/10.1111/jir.12387/full">In our recent research</a>, we looked at the effects of sleep-disordered breathing on cognitive development in 44 children aged between two and four – 22 of whom had Down’s syndrome. People with Down’s syndrome <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3408773/">often experience OSA</a> due to physical characteristics like low muscle tone, smaller airways and large tonsils or adenoids. They also experience <a href="http://onlinelibrary.wiley.com/doi/10.1111/dmcn.12376/full">cognitive and behavioural difficulties</a> which might be related to sleep problems. </p>
<p>We wanted to see how disturbed nights might affect preschoolers, as abilities at this stage of development are often used to predict readiness for school and <a href="http://eprints.ioe.ac.uk/5971/1/Duckworth2007SchoolReadiness1428.pdf">future life outcomes</a>. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/176781/original/file-20170704-7743-mimkoo.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/176781/original/file-20170704-7743-mimkoo.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/176781/original/file-20170704-7743-mimkoo.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/176781/original/file-20170704-7743-mimkoo.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/176781/original/file-20170704-7743-mimkoo.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/176781/original/file-20170704-7743-mimkoo.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/176781/original/file-20170704-7743-mimkoo.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Children with Down’s syndrome often have issues sleeping.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
</figcaption>
</figure>
<p>Children came to Coventry University where we measured their language, motor and visual skills. we also asked their parents about the children’s language ability and behaviour. Parents then took home equipment to measure their child’s breathing, heart rate and oxygen levels during sleep.</p>
<p>What we found was that in the typically developing group, children whose oxygen levels dipped the lowest during sleep had the poorest expressive language skills, meaning they had more difficulty putting their thoughts into words and sentences. Those with sleep-disordered breathing also had the poorest behaviour. Their parents reported less pro-social behaviour – like being kind and helping people – and more behavioural problems. </p>
<h2>Sound asleep</h2>
<p>None of the children we looked at experienced severe OSA so our research shows that, even at the mild end of the spectrum, sleep-disordered breathing is sufficient to cause cognitive difficulties in otherwise healthy children. This is important, as mild OSA in children often goes unnoticed or unrecognised, and at the moment there is <a href="https://synapse.koreamed.org/DOIx.php?id=10.3345/kjp.2010.53.10.872">no consensus</a> on the level of severity at which it should be treated. </p>
<p>We also found that children who slept for longer had fewer emotional symptoms
such as fears, nervousness and unhappiness. This makes sense because previous research has shown that treatment of sleep problems in children usually leads to an <a href="http://www.sciencedirect.com/science/article/pii/S1071909196800283">improvement in emotional symptoms</a>. It has even been found that childhood sleep problems <a href="https://www.ncbi.nlm.nih.gov/pubmed/15839494">can predict</a> anxiety disorders in adulthood. </p>
<figure class="align-center ">
<img alt="" src="https://images.theconversation.com/files/176782/original/file-20170704-12293-1qkx5uh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/176782/original/file-20170704-12293-1qkx5uh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/176782/original/file-20170704-12293-1qkx5uh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/176782/original/file-20170704-12293-1qkx5uh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/176782/original/file-20170704-12293-1qkx5uh.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/176782/original/file-20170704-12293-1qkx5uh.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/176782/original/file-20170704-12293-1qkx5uh.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Lack of sleep can impact children emotionally and physically.</span>
<span class="attribution"><span class="source">Shutterstock</span></span>
</figcaption>
</figure>
<p>Our findings for children with Down’s syndrome, however, were inconsistent. With this group, we found those who experienced sleep-disordered breathing actually had better language understanding and used more actions and gestures to communicate. These children also slept for longer than the typically developing children, so it is possible this protected them from the harmful effects of sleep-disordered breathing. </p>
<p>What all this shows is that sleep is probably just one factor among many that can help or hinder children’s cognitive development. Nevertheless, given that our findings show a link between even mild sleep problems and a cognitive disadvantage, it is important that we treat sleep problems early – as this might well be the difference between make or break when it comes to schooling.</p><img src="https://counter.theconversation.com/content/79546/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Anna Joyce does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment.</span></em></p>How a lack of sleep impacts a child’s ability to learn.Anna Joyce, Research Associate in sleep and cognition, Coventry UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/785922017-06-08T19:25:51Z2017-06-08T19:25:51ZWhy we don’t know what causes most birth defects<figure><img src="https://images.theconversation.com/files/172181/original/file-20170605-20586-sgg1qn.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">About 3% of babies are born with birth defects, when there is a problem with how they develop in the womb.</span> <span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/411340129?src=8_HRpVr2qj1DFZqztQ4QrA-2-85&size=medium_jpg">from www.shutterstock.com</a></span></figcaption></figure><p>The development of a baby, from the time of fertilisation through to the moment of birth, is an incredibly complex journey. Most of the time the result is a perfect new baby. However, in <a href="https://www.cdc.gov/ncbddd/birthdefects/facts.html">about 3% of babies</a> mistakes happen and a birth defect occurs. This is when an anatomical difference has come about as the baby develops in the womb.</p>
<p>Birth defects (also known as congenital anomalies) are a major cause of <a href="https://www.cdc.gov/nchs/products/databriefs/db279.htm">infant hospitalisation and deaths</a> in the first year of life. These are not only costly to manage in the health-care system, but can also have an enormous impact on the lives of the child and their family.</p>
<p>Some birth defects are relatively mild, can be repaired with simple surgery and the child will go on to lead a perfectly normal life. These include an additional little finger or webbing between two toes.</p>
<p>Other types, including serious <a href="https://www.mja.com.au/journal/2012/197/3/congenital-heart-disease-current-knowledge-about-causes-and-inheritance">heart defects</a> and facial deformities such as <a href="http://www.rch.org.au/kidsinfo/fact_sheets/Cleft_Lip_and_Palate_an_overview/">cleft lip and palate</a>, are more complex to manage. These may involve treatment spanning childhood and into adolescence.</p>
<figure class="align-right zoomable">
<a href="https://images.theconversation.com/files/172183/original/file-20170605-20578-l8e1nv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/172183/original/file-20170605-20578-l8e1nv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/172183/original/file-20170605-20578-l8e1nv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/172183/original/file-20170605-20578-l8e1nv.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/172183/original/file-20170605-20578-l8e1nv.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/172183/original/file-20170605-20578-l8e1nv.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/172183/original/file-20170605-20578-l8e1nv.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/172183/original/file-20170605-20578-l8e1nv.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px"></a>
<figcaption>
<span class="caption">Children born with a cleft lip (above) are offered surgery to correct this common birth defect.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/download/success?src=AE4bGoW-NCVhXMEt6f6vdQ-1-9">from www.shutterstock.com</a></span>
</figcaption>
</figure>
<p>Some birth defects are so severe the baby cannot live outside the womb. These kinds usually involve major malformation of essential structures, such as <a href="https://www.cdc.gov/ncbddd/birthdefects/anencephaly.html">anencephaly</a> where the brain fails to form.</p>
<p>When a single cause affects multiple systems in the body the birth defect is described as a syndrome. An example is <a href="http://www.downsyndrome.org.au/">Down syndrome</a>. This is one of the most common birth defects in Australia and causes intellectual disability and other physical and learning challenges.</p>
<p>The outlook for children with syndromes, like the syndromes themselves, is highly variable. A syndromic birth defect is not necessarily more severe than an isolated birth defect. However, the involvement of multiple systems or structures may require ongoing management to ensure the best outcomes for the child and their family.</p>
<h2>What causes birth defects?</h2>
<p>Birth defects have two major causes, environmental and genetic. </p>
<p>Environmental causes (known as teratogens) include medicines that can harm the unborn baby. The most high-profile of these was <a href="https://theconversation.com/thalidomide-taught-us-to-use-medications-with-care-during-pregnancy-not-to-stop-using-them-51862">thalidomide</a>, which women took for morning sickness in the late 1950s and early 1960s. It led to thousands of babies born with irreversible congenital defects ranging from limb deformities (phocomelia) to facial malformations.</p>
<p>A more recently identified environmental cause of birth defects is the <a href="http://www.who.int/csr/disease/zika/en/">Zika virus</a>, which leads to <a href="https://theconversation.com/explainer-what-is-microcephaly-and-what-is-its-relationship-to-zika-virus-54049">microcephaly</a> (babies born with smaller-than-normal heads).</p>
<p>More everyday factors include alcohol and smoking, which have been associated with an <a href="http://www.aihw.gov.au/child-health/risk-factors/">increased risk</a> of abnormalities. Estimates from the USA suggest <a href="https://www.cdc.gov/ncbddd/fasd/data.html">0.1-1% of children</a> may be affected by alcohol in the womb. And smoking during pregnancy is associated with a <a href="http://www.tobaccoinaustralia.org.au/3-8-infant-health-and-smoking">range of conditions</a>, including heart defects and facial clefts.</p>
<p>Environmental factors can also involve physical restriction that may occur in the womb from <a href="http://jech.bmj.com/content/70/11/1114">twin pregnancies</a>.</p>
<p>The genetic causes of birth defects are equally diverse. These include chromosomal abnormalities in conditions like <a href="http://www.downsyndrome.org.au/">Down syndrome</a> (an extra copy of chromosome 21) and errors in specific genes such as the <a href="http://www.yourgenome.org/facts/what-is-achondroplasia">FGFR3 gene</a>, which causes a form of dwarfism.</p>
<h2>But most causes remain a mystery</h2>
<p>Recent US <a href="http://www.bmj.com/content/357/bmj.j2249">research</a> examined the frequency and causes of birth defects by looking at medical records for over 270,000 births between 2005 and 2009. The researchers found 5,504 cases of birth defects, or about 2% of total births.</p>
<p>But they found the cause behind only one in five of these birth defects. The rest (79.8%) remained a mystery.</p>
<p>Of the known causes, 94.4% were genetic, 4.1% resulted from environmental exposure (teratogens) and 1.4% were linked with twin pregnancies.</p>
<p>The study also confirmed <a href="https://npesu.unsw.edu.au/surveillance/congenital-anomalies-australia-2002-2003">Australian findings</a> that individual birth defects seem to affect a higher proportion of males than females; we still don’t know why.</p>
<h2>Where to from here?</h2>
<p>This study highlights reasons for hope. The 4.1% of birth defects resulting from teratogen exposure were mainly caused by uncontrolled <a href="http://www.mydr.com.au/diabetes/diabetes-and-getting-pregnant">diabetes</a> in women before becoming pregnant. While the mechanism for this is unclear, this figure could be reduced through increased education of women intending to become pregnant to ensure their diabetes is controlled before and during pregnancy.</p>
<figure class="align-left ">
<img alt="" src="https://images.theconversation.com/files/172186/original/file-20170605-20569-fof7ai.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/172186/original/file-20170605-20569-fof7ai.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=400&fit=crop&dpr=1 600w, https://images.theconversation.com/files/172186/original/file-20170605-20569-fof7ai.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=400&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/172186/original/file-20170605-20569-fof7ai.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=400&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/172186/original/file-20170605-20569-fof7ai.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=503&fit=crop&dpr=1 754w, https://images.theconversation.com/files/172186/original/file-20170605-20569-fof7ai.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=503&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/172186/original/file-20170605-20569-fof7ai.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=503&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Controlling a woman’s diabetes before she becomes pregnant reduces her chance of having a child with a birth defect.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/download/confirm/552199903?src=xkZZVKGo6IjBrt_ktxrowQ-1-21&size=medium_jpg">from www.shutterstock.com</a></span>
</figcaption>
</figure>
<p>Yet, the finding that the cause of nearly 80% of birth defects remains unknown is confronting and highlights the scale of the task ahead.</p>
<p>In Australia, for instance, we do not have a clear picture of the types and frequencies of birth defects across the nation. This is because we have state-based systems that collect different information.</p>
<p>Birth defects are also diverse, affecting many different structures in the body. Each specific birth defect results from a different cause, most of which are genetic. Identifying the factors responsible requires each birth defect to be examined independently so that individuals with a particular condition can be grouped and studied together. This takes time, research and funding.</p>
<p>Greater support for genetics research and information collection on birth defects would allow us to understand the origins of these conditions. Only then can we be begin the task of intervention and prevention to reduce the burden of these conditions on health-care systems and families.</p>
<hr>
<p><em>If you have concerns about birth defects, please speak to your doctor. For more information and support, contact the <a href="http://www.gsnv.org.au/">Genetic Support Network of Victoria</a> or the <a href="http://www.geneticandrarediseasenetwork.org.au/">Genetic and Rare Disease Network</a>.</em></p><img src="https://counter.theconversation.com/content/78592/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Peter Farlie receives funding from the National Health and Medical Research Council Australia. </span></em></p>We still don’t know what’s behind four out of every five birth defects. But that can change.Peter Farlie, Developmental Biologist, Murdoch Children's Research InstituteLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/564362016-04-21T20:10:12Z2016-04-21T20:10:12ZFriday essay: on telling the stories of characters with Down syndrome<figure><img src="https://images.theconversation.com/files/118679/original/image-20160414-4694-n6q7mw.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Sarah Kanake and her brother Charlie.</span> <span class="attribution"><span class="source">Author supplied.</span></span></figcaption></figure><p>In 2014 I was asked, by my then university, to present in a jovial end of year debate. My partner, brother and a few of my close friends came to watch. The auditorium was packed. There were university bigwigs on both teams. I was pretty nervous. It went well, although many of the debaters thought they were presenting in a real debate and the rest (myself included) had only prepared jokes. </p>
<p>At the end there was a question and answer section. Some members of the audience asked jokey questions relating to our topic. The university bigwigs answered them. Everyone laughed. </p>
<p>Then my brother stood up and asked why there were no intellectually disabled people on the panel, or as students, or as lecturers. He asked why there were hardly any people with Down syndrome in books, or songs, or plays, or movies. All the art forms we taught and sought to understand at the university.</p>
<p>The auditorium fell silent. Maybe because of the question, but probably because my brother has Down syndrome.</p>
<p>One of the university bigwigs stood up, cleared his throat, and gave as sensitive a response as he could. “Integration and representation are important issues but this is a forum for levity,” he said, “and your question is not one to be laughed at.”</p>
<p>My brother sat down. His question went unanswered.</p>
<p>When the debate was over my brother and I had the first real fight we’d ever had. I said he was a grandstander and an attention hog and that these were the people who could give me a job (or not) when I finished my PhD. Why did he have to ask that question, I asked. Why couldn’t he just shut up. Why couldn’t he just fit in? I said all the stuff I had never said before and had never even allowed myself to think.</p>
<p>Afterwards, I felt terrible and apologised. My brother said it was okay and that he was sorry too. We got over it.</p>
<p>But his question remained unanswered.</p>
<p>If integration and representation were important issues, like the university bigwig had said, why had no one tried to answer my brother’s question? </p>
<p>Maybe because as Leonard Davis wrote in his 2002 book <a href="http://nyupress.org/books/9780814719503/">Bending Over Backwards</a> there’s, </p>
<blockquote>
<p>a strange and really unaccountable silence when the issue of disability is raised (or, more to the point, never raised)… the concept of disability has been relegated to a sideshow, a freak show at that, far away from the academic midway of progressive ideas and concerns. </p>
</blockquote>
<p>The thing is, I still can’t answer all the questions my brother asked that day.</p>
<p>I don’t know why there is such a culture of low expectation towards people with Down syndrome specifically. I don’t know why those expectations feed into our cultural understanding of what people with Down syndrome achieve, especially when so many of us have lived experience that says otherwise. </p>
<p>I don’t know why there were no students, or lecturers with Down syndrome at my university that day. But, after five years of research and study, I can answer why there are very few representations of Down syndrome in narrative fiction.</p>
<p>So, my brother Charlie, pretend I didn’t yell at you that day after the debate. Pretend I said this instead…</p>
<p>In 2012, the Global Down Syndrome Foundation stated that 38% of the population <a href="http://www.globaldownsyndrome.org/about-down-syndrome/facts-about-down-syndrome/">knew someone with Down syndrome</a>. </p>
<p>In 2013, the National Dissemination Centre for Children with Disabilities <a href="http://www.parentcenterhub.org/wp-content/uploads/repo_items/fs4.pdf">said that</a>: </p>
<blockquote>
<p>Nearly 5,000 babies are born with Down syndrome in the United States each year. This means that 1 in every 733 babies is born with this condition.</p>
</blockquote>
<p>But, despite this lived experience, there is still a crisis of representation around Down syndrome, particularly in narrative fiction. </p>
<figure class="align-right ">
<img alt="" src="https://images.theconversation.com/files/119587/original/image-20160421-8030-16ij5om.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/119587/original/image-20160421-8030-16ij5om.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=990&fit=crop&dpr=1 600w, https://images.theconversation.com/files/119587/original/image-20160421-8030-16ij5om.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=990&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/119587/original/image-20160421-8030-16ij5om.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=990&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/119587/original/image-20160421-8030-16ij5om.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1244&fit=crop&dpr=1 754w, https://images.theconversation.com/files/119587/original/image-20160421-8030-16ij5om.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1244&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/119587/original/image-20160421-8030-16ij5om.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1244&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The Memory Keeper’s Daughter by Kim Edwards, published by Penguin.</span>
<span class="attribution"><span class="source">http://www.goodreads.com/</span></span>
</figcaption>
</figure>
<p>Characters with Down syndrome are extremely uncommon, narrators with diagnosed Down syndrome are few, and sole narrators with Down syndrome are basically non-existent. </p>
<p>Why? After all, readers don’t just respond to novels with characters who have Down syndrome, they devour them. Novels like <a href="http://www.goodreads.com/book/show/10441.The_Memory_Keeper_s_Daughter">The Memory Keeper’s Daughter</a> (2005) by Kim Edwards and <a href="http://www.goodreads.com/book/show/5181.Jewel">Jewel</a> (1991) by Brett Lott have sold millions of copies. Having said that, only a certain type of adult novel about Down syndrome is popular.</p>
<h2>The Down ‘S’yndrome Novel.</h2>
<p>The Down Syndrome Novel refers to a novel that builds the scaffolding of plot and story around the inclusion of a character with Down syndrome, making this character necessary for the plot. If you remove the character with Down syndrome (or their disability) from the narrative, the plot caves in. </p>
<p>I coined the term Down Syndrome Novel in my <a href="http://eprints.qut.edu.au/75916/">PhD thesis</a> in order to discuss the style of narrative where Down syndrome is included. I refer to these narratives as Down Syndrome Novels in order to reflect importance of the syndrome within the narrative structure. </p>
<p>Thus, I also chose to eschew the contemporary lower case ‘s’ for the more traditional (and now almost obsolete) upper case ’S’ in order to immediately identify the otherness central to these novels. This is not to criticise the Down Syndrome Novel, but rather to present a line of difference between depictions of Down syndrome and those novels where Down syndrome is indispensable to the plot.</p>
<p>Building the syndrome into the plot is the most important element in the Down Syndrome Novel, and also the most limiting aspect for the character with Down syndrome. </p>
<p>Why? Because the Down Syndrome Novel is rarely (if ever) told through the perspective of a person with a disability: they are largely told by parents.</p>
<p>In telling the novel through the parent’s point of view the novel often presents the disabled character as an unexpected, and often unwanted, presence. </p>
<p>Whether this is as a child in the parental narrative, the forced friendship/sibling relationship, or a persistent (often sexual) threat, these narratives rely on archetypes of Down syndrome to form the spine of the narrative and these archetypes almost always exist somewhere on the polarised spectrum between monstrous and angelic. </p>
<figure class="align-left ">
<img alt="" src="https://images.theconversation.com/files/119592/original/image-20160421-8007-1ay8179.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/119592/original/image-20160421-8007-1ay8179.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=979&fit=crop&dpr=1 600w, https://images.theconversation.com/files/119592/original/image-20160421-8007-1ay8179.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=979&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/119592/original/image-20160421-8007-1ay8179.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=979&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/119592/original/image-20160421-8007-1ay8179.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1231&fit=crop&dpr=1 754w, https://images.theconversation.com/files/119592/original/image-20160421-8007-1ay8179.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1231&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/119592/original/image-20160421-8007-1ay8179.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1231&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">Jewel by Bret Lott, published by Pocket Books.</span>
<span class="attribution"><span class="source">http://www.goodreads.com/</span></span>
</figcaption>
</figure>
<p>The Down Syndrome Novel centres around disability and almost universally presents the character with Down syndrome as a problem within the narrative that the narrator must learn to overcome. This movement towards acceptance is the character arc, narrative problem and eventually, the plot. In creating, and thus remaining, within these character definitions the author builds clear and impenetrable boundaries around the disabled character, and the novel including a character with Down syndrome becomes a novel almost exclusively about Down syndrome.</p>
<p>Having said that, the Down Syndrome Novel tries. It tries really hard to create an environment of social diversity and change.</p>
<p>In fact, in seeking to become a dynamic force in social change, the Down Syndrome Novel often traps its hero beneath an avalanche of narrative expectation. Often the only way to remove this expectation is for the character to become incidental to the plot. Just a character in a story, not necessarily about Down syndrome, disability or social stigma and inclusion.</p>
<p>However, being “incidental” to the plot carries its own difficulties and silences. The incidental character with Down syndrome may be freer within the narrative, but this character will never be free to tell their own story.</p>
<p>Mitchell and Snyder discuss this gap in their book <a href="https://www.english.upenn.edu/sites/www.english.upenn.edu/files/Mitchell-Snyder_Narrative-Prosthesis_Chpt2.pdf">Narrative Prosthesis</a> (2000): </p>
<blockquote>
<p>The marginality of disabled people has occurred in the midst of the perpetual circulation of images of disability. </p>
</blockquote>
<p>The marginalisation of the character with Down syndrome in narrative fiction is not about appearing in a novel, but having a voice and agency within the narrative. When writing about the intellectually disabled, few authors have situated themselves comfortably between the content of a character’s experience and the style necessary to accommodate difference.</p>
<h2>Angel or monster</h2>
<p>Representations of characters with Down syndrome have historically fallen into two polarised categories – angel and monster – with few transcending the boundaries to become fully realised characters with their own autonomous voice. </p>
<p>This lack of freedom in voice is generally connected to the fear of the character with Down syndrome and their inclusion into the world, even an imagined world. </p>
<p>Fear, of the body growing into adulthood while the mind stays behind in childhood [sic]. Fear, of how the first-person voice of a character with Down syndrome might change the landscape of the modern narrative, and perhaps even fear that the character with Down syndrome will transgress all normative boundaries.</p>
<p>These fears, felt and expressed by the writer, narrator and reader, are all ingrained in this lack of voice. These elements, when combined, create a culture of low expectation of the character with Down syndrome within the narrative.</p>
<p>The disabled character is often used to illustrate and embody a theme that exists outside their interior world. In her paper <a href="http://www.rcpsych.ac.uk/pdf/Anupama%20Iyer.pdf">Depictions of Intellectual Disability in Fiction</a> (2007) Anupama Iyer, consultant psychiatrist in adolescent developmental disabilities for St Andrew’s Healthcare, discussed this connection.</p>
<p>She wrote: </p>
<blockquote>
<p>“A character with an intellectual disability [is] a silent Rorschach ink blot onto which society projects its devices and desires.” </p>
</blockquote>
<p>In an interview regarding <a href="http://www.independent.co.uk/news/media/mark-haddon-first-he-tackled-aspergers-now-the-writer-is-putting-downs-syndrome-in-the-spotlight-with-a-new-drama-463565.html">his particular interest in intellectual disability</a> auhtor Mark Haddon supported this statement when he said:</p>
<blockquote>
<p>“For me, disability is a way of getting some extremity, some kind of very difficult situation, that throws an interesting light on people”.</p>
</blockquote>
<p>Here, Haddon identifies that disability is the key he uses to create conflict, and he isn’t the only one. In fact, most Down Syndrome novels use disability to create the central narrative conflict and, while these novels have clearly good intentions, this conflict only serves to distance the character even further from the reader. It makes Down syndrome “other”.</p>
<p>Most characters with Down syndrome, particularly within the Down Syndrome novel, are heterosexuals from white, middle-class (although often the families fall on hard times) multiple-children families. They are heavily normalised by the author and a narrative voice outside their intellectual disability but, as an intellectually disabled “Other”, characters with Down syndrome are sometimes capable of stretching their own limits using the vehicle of their disability.</p>
<figure class="align-right ">
<img alt="" src="https://images.theconversation.com/files/119590/original/image-20160421-8017-h6rkuz.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/119590/original/image-20160421-8017-h6rkuz.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=928&fit=crop&dpr=1 600w, https://images.theconversation.com/files/119590/original/image-20160421-8017-h6rkuz.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=928&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/119590/original/image-20160421-8017-h6rkuz.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=928&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/119590/original/image-20160421-8017-h6rkuz.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1166&fit=crop&dpr=1 754w, https://images.theconversation.com/files/119590/original/image-20160421-8017-h6rkuz.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1166&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/119590/original/image-20160421-8017-h6rkuz.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1166&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption">The Sound and the Fury by William Faulkner, published by Vintage.</span>
<span class="attribution"><span class="source">www.goodreads.com/</span></span>
</figcaption>
</figure>
<p>In William Faulkner’s <a href="https://www.goodreads.com/book/show/10975.The_Sound_and_the_Fury">The Sound and the Fury</a> (1929) Benjamin’s behaviour is heavily normalised by his family, particularly his sister Caddy. Benjamin - who has an unidentified severe intellectual disability - is admonished and condemned but any strangeness or disturbance in his behaviour is expected. He can use his disability for attention, and affection, and this is why, when he forces his hand through the fence, he unable to understand the terror and disgust he finds there. </p>
<p>While Benjamin is not capable of moving beyond the property borders unpunished, it is still possible for a character with Down syndrome to find freedom in traversing the boundaries of normative behaviour. </p>
<h2>Dissolving boundaries</h2>
<p>In my Gothic Tasmanian novel <a href="http://www.goodreads.com/book/show/28804484-sing-fox-to-me">Sing Fox to Me</a> (2016) I was extremely conscious of representing and dissolving boundaries around my protagonist with Down syndrome, Samson Fox, in order to create a narrative where Samson was free to move, evolve and change. </p>
<p>Because, just as a person with an intellectual disability has the right to be a “significant member of society”, so does a character with Down syndrome have a right to a belonging within the story that does not build them into the scaffolding of the narrative.</p>
<p>In her book <a href="https://www.fremantlepress.com.au/products/greater-expectations-living-with-down-syndrome-in-the-21st-century">Greater Expectations</a> (2010) disability researcher Jan Gothard writes: </p>
<blockquote>
<p>Inclusion means more than simply having people with disabilities in mainstream classrooms and workplaces. It’s about the state of mind which sees people with disabilities accepted as valued, significant and worthwhile members of society: people who have every right to belong.</p>
</blockquote>
<p>When I started writing Sing Fox to Me, I wanted to understand why characters with Down syndrome didn’t seem to match up with the lived experiences expressed in books like Jan Gothard’s Greater Expectations or my own lived experience. </p>
<figure class="align-left ">
<img alt="" src="https://images.theconversation.com/files/119552/original/image-20160421-25592-rn28nm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=237&fit=clip" srcset="https://images.theconversation.com/files/119552/original/image-20160421-25592-rn28nm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=931&fit=crop&dpr=1 600w, https://images.theconversation.com/files/119552/original/image-20160421-25592-rn28nm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=931&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/119552/original/image-20160421-25592-rn28nm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=931&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/119552/original/image-20160421-25592-rn28nm.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=1170&fit=crop&dpr=1 754w, https://images.theconversation.com/files/119552/original/image-20160421-25592-rn28nm.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=1170&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/119552/original/image-20160421-25592-rn28nm.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=754&h=1170&fit=crop&dpr=3 2262w" sizes="(min-width: 1466px) 754px, (max-width: 599px) 100vw, (min-width: 600px) 600px, 237px">
<figcaption>
<span class="caption"></span>
</figcaption>
</figure>
<p>What I discovered is that the world both within and outside the novel is still struggling to understand the limits and expectations of Down syndrome.</p>
<p>Down syndrome is still something of a mystery because it is largely represented through archetypes, and images folded down through literature. There is in fiction, as there is in life, a culture of low expectation.</p>
<p>Ultimately, I do not expect to fill the gap in representations of Down syndrome within narrative fiction – no single author could – and my novel was certainly never intended to be the final word on how characters with Down syndrome could function within the novel. </p>
<p>After all, the novel is forever changing, and my hope is that characters with Down syndrome will diversify and change with it. My character with DS, Samson Fox, can be part of this change but he can’t carry the full weight of his disability. Samson can only tell one fictional story. He is only one voice in a symphony of what could be thousands, maybe even 1 in every 733.</p>
<p>I started questioning depictions of Down syndrome in fiction and writing Sing Fox to Me with the express purpose of changing something.</p>
<p>I wanted to change the world inside my library. I wanted to open a book and see a character with Down syndrome. I wanted to hear his voice and see inside his head. I wanted to know what he thought. </p>
<p>However, once the novel was finished and printed, I realised that what I really wanted to change was me. I wanted to be able to write about something I had yet to see in fiction, but I also wanted to show other authors that they could have higher expectations of characters with Down syndrome. </p>
<p>I wanted, as Foucault <a href="http://www.goodreads.com/book/show/232743.The_Archaeology_of_Knowledge_The_Discourse_on_Language">once said</a>, to write a “book so that other books are possible, not necessarily written by me”.</p>
<p>My brother, Charlie, what do you think? Does this answer (at least part of) the question you asked that day at my university debate?</p><img src="https://counter.theconversation.com/content/56436/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Sarah Kanake received funding from the Australian Post-graduate Awards to research representations of Down syndrome in fiction. </span></em></p>Characters with Down syndrome are extremely rare in novels and rarer still are stories written from their point of view. But people with disabilities have an equal right to belong in narrative fiction.Sarah Kanake, Lecturer in Creative Writing, University of the Sunshine CoastLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/465752015-08-27T05:37:59Z2015-08-27T05:37:59ZAre attitudes changing to the 1.4m people in the UK with a learning disability?<figure><img src="https://images.theconversation.com/files/92920/original/image-20150825-17083-dhwoxe.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Much more needs to be done to tackle negative attitudes to people with a learning disability. </span> <span class="attribution"><span class="source">Marcel Jancovic/www.shutterstock.com</span></span></figcaption></figure><p>If you are among the <a href="https://www.mencap.org.uk/about-learning-disability/information-professionals/more-about-learning-disability">approximately 1.4m</a> children and adults in the UK born with a learning disability, it’s likely that through no fault of your own you will experience a number of injustices in your life. From feeling largely invisible and isolated to being excluded from many of the activities that make life worth living – friendship, love, employment, leisure and further education – the chance of you living the kind of life you want to is vastly reduced if you have a learning disability.</p>
<p>As a society that claims to be progressive, we should be worried by this. On a personal and professional level I have been involved in building a better understanding of attitudes towards people with a learning disability for many years, but I recently realised that more action is needed. Understanding isn’t enough.</p>
<p>That is why my colleague Shirli Werner and I changed direction, and shifted our focus to tackling negative attitudes. We <a href="https://www.ucl.ac.uk/ciddr/documents/ExecSummary">found</a> a real lack of understanding and knowledge when it comes to learning disability in the UK and elsewhere. A lack of thorough research in this area means that tackling these negative attitudes is even more difficult. Confusion is rife, and our profound lack of knowledge about what works and what doesn’t is having a very damaging impact on people’s lives. </p>
<p>A <a href="https://www.mencap.org.uk/node/6998">2008 survey by Mencap</a> revealed 73% of people were unable to give an accurate example of a “learning disability” when asked. In <a href="http://www.ncbi.nlm.nih.gov/pubmed/23092619">our own research</a>, only around a third of adults in the UK when presented with a case example recognised that the person presented might have a learning disability. The “knowledge” and “understanding” that does exist can often enforce negative stereotypes and make life even harder for people with a learning disability. Even today, some people in rural Africa think that someone’s learning disability is caused by witchcraft – and in the UK the majority of people with a learning disability say that they have been <a href="https://www.mencap.org.uk/sites/default/files/documents/2008-03/Bullying%20wrecks%20lives.pdf">the victim of bullying</a>.</p>
<p><a href="https://www.mencap.org.uk/about-learning-disability/information-professionals/communication/changing-attitudes-learning-disability-repor">Changing Attitudes to learning disability</a>, a new review I produced for publication by Mencap, points to a double standard in public attitudes towards people with a learning disability. The <a href="http://discover.ukdataservice.ac.uk/catalogue?sn=6695">British Social Attitudes Survey</a> in 2009 found that just 41% of parents would feel very comfortable if their child had a classmate with a learning disability, compared to 76% for physical and sensory disabilities. This highlights a key problem: on the whole people say that those with a learning disability should be treated equally, but at the same time many behave in subtly prejudiced ways which in fact reinforce negative stereotypes.</p>
<p>A lack of familiarity and insecurity around learning disability appears to be causing hostility. Yet I can point to three things we could do right now that could shift things for people with a learning disability. </p>
<h2>Hear from those in the know</h2>
<p>The increasingly loud voice of self-advocates is improving things. But we need to see and hear many more people with a learning disability in the public arena and for others to support them in speaking up. </p>
<p>Whether it is in the media, teaching at workshops or conferences, it is generally the voice of people with a learning disability that is the most powerful and produces the greatest positive shift in people’s thinking. We need a few high profile figures to lend a voice to this cause and support self-advocates in raising awareness of learning disability and challenge the negative attitudes that persist.</p>
<h2>Harness the potential in young people</h2>
<p>Much has been made of findings that a lot of abuse and harassment against people with a learning disability is <a href="https://www.mencap.org.uk/sites/default/files/documents/2008-03/Bullying%20wrecks%20lives.pdf">perpetrated by young people</a>. We need to harness the huge potential for shifts in social attitudes that lies with young people. </p>
<p>These days many secondary schools I visit have got large boards up with Stonewall and LGBT campaigns prominently displayed. Our struggle has more in common with these seismic shifts in public attitudes than we may think. </p>
<p>There’s no reason why that same prominence can’t be given to messages that focus on respect for people with a disability, and against disability hate crime, ensuring that people with a learning disability are explicitly included in positive messages.</p>
<h2>Increase employment</h2>
<p>The fact that according to figures by IHAL, the NHS funded Learning Disability Health Observatory, only <a href="https://www.improvinghealthandlives.org.uk/projects/partnershipboardreports/progressreports1011/employ1">around 7% of people</a> with a learning disability in the UK are in any form of employment is not only shocking but also points to a vastly untapped route to improving the lives of people with a learning disability at the same time as improving attitudes. Contact is the prime avenue for raising awareness and improving attitudes. If more people with a learning disability were employed, this would hugely increase opportunities for improving attitudes.</p>
<p>In some senses, our evidence review paints a pretty bleak picture of the lives of people with a learning disability in the UK today. But there is plenty of room to be positive. Over the past 50 years we have seen huge strides forward in how we view disability. Our new evidence review is a first step in kick-starting a debate around why these attitudes exist, and how we can best begin really shifting the way that our society views learning disability.</p><img src="https://counter.theconversation.com/content/46575/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The evidence review 'Changing Attitudes to learning disability' was produced by Katrina Scior and Shirli Werner for publication by Mencap. </span></em></p>There is a double standard in public attitudes towards people with a learning disability.Katrina Scior, Senior Lecturer in Clinical Psychology , UCLLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/303512014-08-11T20:26:17Z2014-08-11T20:26:17ZWhy should we offer screening for Down syndrome anyway?<figure><img src="https://images.theconversation.com/files/56157/original/bq57f8xt-1407738219.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">For the most part, pregnant women wish to remain pregnant – no matter how they came to be so.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/jerrylai0208/14281758292">Jerry Lai/Flickr</a>, <a class="license" href="http://creativecommons.org/licenses/by-sa/4.0/">CC BY-SA</a></span></figcaption></figure><p>The details of a surrogacy case involving an Australian couple commissioning a pregnancy in Thailand have created outrage in all sorts of quarters. But the father’s admission that he would have asked the surrogate mother to terminate her pregnancy if he’d known baby Gammy had Down syndrome didn’t cause indignation in anywhere the same scale.</p>
<p>The notion of disability – and how we value or devalue people with it – makes many uncomfortable. Nevertheless, the screening most pregnant women choose to determine whether their child will have Down syndrome, and the terminations that result from it, are widely practised.</p>
<h2>Screening for abnormalities</h2>
<p>At around 12 weeks gestation, a woman may elect to have a combined screening test involving an ultrasound and a blood test. The results from these investigations provide a probability of the fetus having one of a few chromosomal trisomy conditions. </p>
<p>These conditions result from having three copies of a chromosome, rather than the usual two. They can be lethal in utero or lead to a very short life (such as with trisomy 18, known as Edwards syndrome and trisomy 13, known as Patau syndrome), or a spectrum of mild to significant intellectual disability, often presenting with cardiac problems (trisomy 21 - Down syndrome).</p>
<p>Based on this probabilistic information, the woman can then decide whether she would like to obtain further, and likely more accurate, information. </p>
<p>At the moment, this usually involves invasively obtaining a sample from the placenta or amniotic fluid. Some women decide to have this, some do not. And some will be informed that their fetus will be born with a chromosomal trisomy. </p>
<p>Of these, most will terminate. We don’t know how many women do this in Australia as data is not kept in a consistent way between states. But in the United Kingdom, <a href="http://www.bmj.com/content/339/bmj.b3794">a 2009 paper</a> gave the termination rate for detected cases of Down syndrome as 92%. </p>
<p>The ethical question is whether such screening, and ending those pregnancies where a condition is identified, is acceptable. </p>
<h2>Making choices</h2>
<p>For the most part, pregnant women wish to remain pregnant – no matter how they came to be so. While it is one thing for a male parent of a surrogate baby to claim, after the fact, that he would have requested a termination, the actual decisions faced by pregnant women are much less frivolous. </p>
<p>Screening is primarily about facilitating choice through information provision; it’s not about putting women on a conveyor belt to termination. </p>
<p>Because our society has differing views on conditions such as Down syndrome, some couples wish to access information to inform their decision-making in pregnancy. </p>
<p>Some wish to have this information to help adjust to life with a child who has a disability; others use it to plan for birth; while others might choose to end the pregnancy and try again. </p>
<p>This latter decision is not necessarily borne from inherent prejudice, but a recognition that certain conditions may mean their child could have profound problems. Ending a pregnancy is not something taken lightly, whatever the circumstances. </p>
<p>The moral status of the fetus is an intractable issue in our society. Nevertheless, termination is possible at certain points in pregnancy and for certain reasons. </p>
<p>Medical grounds, such as ending a pregnancy where the fetus will be born with Down syndrome, are permitted up to a point. </p>
<h2>Using knowledge wisely</h2>
<p>Still, the acceptability of both the offer to screen for abnormalities in pregnancy, and the action taken on the basis of its results should not detract from several important considerations. </p>
<p>First, women or couples must make a choice about screening and potential termination with access to full and balanced information. There’s <a href="http://www.nature.com/gim/journal/v7/n5/abs/gim200567a.html">some evidence</a> to suggest women don’t always have enough knowledge to make an informed choice. It must also be made clear that undergoing any test is a choice, not an expectation. </p>
<p>Second, women need to have time to think about their choices, which are often difficult and made under an inherent time pressure. </p>
<p>Third, we must not use screening as an excuse for withdrawing practical or psychological support for people who choose to continue a pregnancy that will lead to the birth of a child with a genetic or congenital condition. </p>
<p>Finally, we need to appreciate that although these decisions are made by women and couples based on their individual values, the social context in which they are made is also important. Conditions such as Down syndrome can lead to significant and profound problems, but they don’t always.</p>
<p>We must talk about our attitudes to disability and how we make choices about it. And we should aim for a society that recognises and supports all forms of ability and encourages discussion about our choices.</p><img src="https://counter.theconversation.com/content/30351/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Ainsley Newson has previously received funding from the UK National Institute of Health Research for research into ethics and prenatal screening and diagnosis. Ainsley is a member of the NSW Health Clinical Ethics Advisory Panel and the Ethics and Social Issues Committee of the Human Genetics Society of Australasia.</span></em></p>The details of a surrogacy case involving an Australian couple commissioning a pregnancy in Thailand have created outrage in all sorts of quarters. But the father’s admission that he would have asked the…Ainsley Newson, Senior Lecturer in Bioethics, University of SydneyLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/286802014-07-02T15:08:20Z2014-07-02T15:08:20ZBabies with Down syndrome could help delay the onset of Alzheimer’s disease<figure><img src="https://images.theconversation.com/files/52887/original/5yvkwtxj-1404302328.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">The future's bright.</span> <span class="attribution"><a class="source" href="https://www.flickr.com/photos/spabis/2610625567">spabis</a>, <a class="license" href="http://creativecommons.org/licenses/by-nc-nd/4.0/">CC BY-NC-ND</a></span></figcaption></figure><p><a href="https://theconversation.com/explainer-what-is-alzheimers-disease-24662">Alzheimer’s disease</a> is typically a disease of later life, and age is the biggest known risk factor for the condition. But babies with Down syndrome, who always develop brains like those with Alzheimer’s later in life, don’t always go on to develop dementia. A study that I am involved in, called <a href="https://twitter.com/LonDownS">LonDowNs</a>, is now trying to find out why this may be, with the hope of finding ways to slow down the development of dementia.</p>
<p>The global economic cost of Alzheimer’s is <a href="http://www.alz.org/documents/national/submitted-testimony-050113.pdf">estimated</a> to be US$1 trillion per year by 2050. Delaying the onset of the disease by only six years could reduce those affected and save more than $400 billion. </p>
<p>Alzheimer’s disease causes memory loss, mood changes and problems with communicating and reasoning. Apart from age, other factors can increase the risk of an individual developing the condition. Some of these are lifestyle-related, such as smoking, diabetes or high blood pressure. Others are based in our biology. </p>
<p>My research group is studying babies with Down syndrome – a genetic disease that causes delayed physical growth – to find out more about the changes that occur in the brain during the development of Alzheimer’s disease. Babies’ brains can, it turns out, tell us quite a lot about adult brains. </p>
<p>Those with Down syndrome have an <a href="http://www.ncbi.nlm.nih.gov/pubmed/9017086">increased risk</a> of developing Alzheimer’s disease. Among those aged between 50 and 59 years, one in three suffer from dementia (the most common form of which is the Alzheimer’s disease), if they also have Down syndrome. That proportion rises to one in two for those over 60 year of age.</p>
<p>The increased risk may have something to do with why Down syndrome occurs. Every one has two copies of 23 chromosomes, which make up all the genetic information in any human cell. Those with Down syndrome have three copies of chromosome 21, and the genetic code in this chromosome produces a protein, called amyloid-beta precursor protein (APP), which is implicated in Alzheimer’s disease.</p>
<p>By the age of 30 the brains of all individuals with Down syndrome show a high number of “plaques”, formed from a group of mangled APP molecules. Unlike in the general population, this process has been shown to start in infancy in those with Down syndrome. </p>
<p>What is interesting, however, is that, while all individuals with Down syndrome will ultimately develop the typical Alzheimer’s brain pathology, <a href="http://www.ucl.ac.uk/london-down-syndrome-consortium/research-themes/infants">not all</a> of them get the disease in adulthood. Something is protecting some of them from developing dementia. </p>
<p>To find out what that protecting factor is, we need to study people with Down syndrome across all ages and understand the environmental, genetic and biological factors that affect them. We have now started working on doing that by first creating Down syndrome and Alzheimer’s disease in mice. The results from this will help us shape how we study infants and adults. </p>
<p>We have recruited children between six months and five years of age. We will perform behavioural assessments through observation of the child with their parent or caregiver. For instance, some of these will involve eye tracking and assessments of memory and attention while the infant watches videos on a screen. </p>
<p>The hope is that, by identifying risk factors for dementia during very early development, we may be able to help target preventative treatments for individuals with Down syndrome and subsequently the general population. It may lead to treatments that could slow down the cognitive decline seen in Alzheimer’s disease, or even reverse it. </p>
<hr>
<p><em>Next, read this: <a href="https://theconversation.com/from-lost-memories-to-brain-drugs-a-neuroscientist-explains-27359">From lost memories to brain drugs, a neuroscientist explains</a></em></p><img src="https://counter.theconversation.com/content/28680/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>The LonDowNs study is supported by a Wellcome Trust grant.</span></em></p>Alzheimer’s disease is typically a disease of later life, and age is the biggest known risk factor for the condition. But babies with Down syndrome, who always develop brains like those with Alzheimer’s…Annette Karmiloff-Smith, Professorial Research Fellow, Birkbeck, University of LondonLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/21682011-08-26T04:45:01Z2011-08-26T04:45:01ZHow come you don’t want one? Living with Down Syndrome<figure><img src="https://images.theconversation.com/files/2390/original/PIC_-_Craig_Wing_Rabbitohs.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">NRL player Craig Wing has a sister with Down Syndrome.</span> <span class="attribution"><span class="source">AAP</span></span></figcaption></figure><p>“Fuck you, Wing, your sister has Down syndrome!”</p>
<p>These words <a href="http://www.stuff.co.nz/sport/535543">were once hurled</a> at NSW rugby league star Craig Wing while he was playing for the Sydney Roosters against the Canterbury Bulldogs at the Sydney Football Stadium. </p>
<p>Wing, the long-term patron of the Down Syndrome Association of NSW, responded to the abuse with incredulity. The ugliness of the language is matched only by the ugliness of the sentiments it represents. </p>
<p>Family is of course beyond the pale when it comes to sledging, but this story also underlines continuing divisions within society about Down syndrome and about disability more generally. </p>
<p>Clearly there is a sector of society, and not just confined to football fans, which still considers having a family member with a disability such as Down syndrome to be shameful. </p>
<p>My daughter with Down syndrome has never been a source of shame to our family. Indeed we are enormously proud of the fine young woman she has become, but there is no doubt that her journey and ours could have been easier if social attitudes towards people with disabilities had been more positive. </p>
<p>My recent book <a href="http://www.fremantlepress.com.au/media/2011/1232/Greater+Expecta">Greater Expectations</a> was written to highlight the role of attitudes and expectations in shaping the experience of disability today.</p>
<h2>We have come a long way</h2>
<p>As an historian, I am well aware of how far we have travelled since the not-so-distant days of automatic institutionalisation of children with a disability such as Down syndrome, and the assertion that “things are so much better now”, though anodyne, is nonetheless true. </p>
<p>The media is full of stories that attest to the success both of people with disabilities and of society in accommodating difference. People like my daughter are getting their driving licence, playing the piano, voting, giving their opinions before government inquiries and living in their own households. </p>
<p>Many need a degree of support to do these things, though this does not compromise their capacity to live decent and worthwhile lives within the community. </p>
<p>Nonetheless, there remains a profound gulf between what society purports to aspire to for itself, as a warm, cuddly and accepting place, and what people are prepared to welcome into their own homes. There is a long way to go before we reach a state of full social inclusion. </p>
<h2>So how come you don’t want one?</h2>
<p>One mother of a baby with Down syndrome captured this all too clearly. Gushed over once too often by a well-meaning but unthinking member of the “they’re all such dear little things” school, she finally snapped back, “so how come you don’t want one then?” </p>
<p>To try and answer that question, we need to consider the historical legacy of exclusion, first through institutionalisation and then, more recently and much more efficiently, through pre-natal screening. </p>
<p>The consequences remain all pervasive. If Down syndrome is a condition we can test for and screen against; if carrying a baby with Down syndrome is unquestioned grounds for termination; if bringing up a child with Down syndrome was once considered so dreadful a fate that people “put their child away” instead, then the message is still very clear: such a child is something to guard against, not to welcome. What kind of future are we embracing if we allow this child into our lives? It is this question in all its starkness that parents have to confront when they learn their newborn baby has Down syndrome. </p>
<p>In writing this book, I interviewed more than sixty people who live with Down syndrome. Some were born with it; some chose it, either by opting not to have a termination or by adopting children with Down syndrome; and some had it thrust upon them. They lived right across Western Australia and their experiences were as diverse as their locations. Interviewees included families of different migrant backgrounds, and Indigenous Australians, some of whom had grown up haunted by memories of the stolen generation and still lived in fear that the authorities would come and take away a brother or sister or cousin because of their disability. </p>
<p>I also interviewed a number of young men and women with Down syndrome, living at home or independently or with support in the community, who are busy doing ordinary things and simply getting on with their lives. </p>
<p>Take one married couple who live south of Perth for example: the Saturday morning when I spoke to them, they had just come back from doing the weekly shopping before they caught the Eagles supporters coach up to town to see the football; and I admit I was taken aback at my own surprise at just how “normal” their lives were – but why not?</p>
<h2>My son, my daughter</h2>
<p>I also spoke to parents. There the conversations ranged over the broad themes of the book: the birth experience; the education minefield; health and encounters with health professionals; growing up; sexuality; work; leaving home and independence. </p>
<p>Alongside their enormous love for and pride in their children, what they conveyed was, having a child with a disability is not a small deal. It requires a longer term commitment, perhaps, and more foresight and planning than is the case where one’s children are born without a disability. </p>
<p>However, as the book also shows, the issues dealt with by families can be exacerbated by ignorance, negativity and institutional inertia; by token attitudes towards inclusion; and by deep-rooted ideas and out-dated practices which deny people with disabilities the right to participate fully. </p>
<p>When you live with disability on a daily basis, you come to realise that disability is not, ultimately, just about difference, but is another aspect of being human. Full inclusion can only occur when that is more generally recognised. </p>
<p>As one father said:“When [our daughter] turned one, we all got round to celebrate her birthday and thought back to the day she was born, all the tears, all the trauma, and I just couldn’t help thinking, what on earth was all the fuss about?”</p>
<p>That’s another question that’s very hard to answer.</p><img src="https://counter.theconversation.com/content/2168/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Jan Gothard received funding from LotteryWest to complete this project. She is affiliated with Down Syndrome Western Australia.</span></em></p>“Fuck you, Wing, your sister has Down syndrome!” These words were once hurled at NSW rugby league star Craig Wing while he was playing for the Sydney Roosters against the Canterbury Bulldogs at the Sydney…Jan Gothard, Associate Professor in History, Murdoch UniversityLicensed as Creative Commons – attribution, no derivatives.