tag:theconversation.com,2011:/us/topics/aspergers-syndrome-50587/articlesAsperger's syndrome – The Conversation2019-04-26T10:51:39Ztag:theconversation.com,2011:article/1157082019-04-26T10:51:39Z2019-04-26T10:51:39ZA drug for autism? Potential treatment for Pitt-Hopkins syndrome offers clues<figure><img src="https://images.theconversation.com/files/270163/original/file-20190419-28119-1d3izfu.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Rylie, age 10, is one of the nearly 1000 children diagnosed with Pitt-Hopkins Syndrome, a rare form of autism. Photo curtesy of Pitt Hopkins Research Foundation. </span> <span class="attribution"><span class="source">Photo credit: Christa Michelle Photography</span></span></figcaption></figure><p>In 2019, geeks are cool, and the idea that they might be on the autism spectrum is celebrated. Nowhere is this truer than in Silicon Valley, one of the few places in America where social quirkiness and laser focus attention to detail are more often rewarded than criticized. Often lauded as an example of a success story in autism circles, renowned scientist Temple Grandin, <a href="https://www.mercurynews.com/2014/01/21/temple-grandin-half-of-silicon-valleys-got-mild-autism/">once told a California newspaper</a>, “Half of Silicon Valley’s got mild autism, they just avoid the labels.”</p>
<p>I’m not one for diagnosing entire subcultures from newspaper articles, but the <a href="https://www.thehindu.com/society/how-people-with-autism-are-finding-freedom-and-fame-in-the-creative-arts/article26897631.ece">recent change</a> <a href="https://www.usnews.com/news/best-states/florida/articles/2018-05-26/child-prodigy-wants-people-to-know-having-autism-is-cool">in discourse around autism</a> is good because it will hopefully push society to treat people with autism with more compassion. But this might also obscure a darker truth that the challenges and struggles for affected individuals and their families are at times overwhelming. </p>
<p>Current approaches to help children with autism are of limited impact, but scientists are beginning to imagine that treatments will soon be based on an understanding of specific causes. </p>
<p>I am the director of the Lieber Institute for Brain Development and the Maltz Research Laboratories at the Johns Hopkins University School of Medicine, where scientists study how genes and the environment shape the development of the human brain. We have identified a drug that works in individual cells and rodents of one form of autism known as Pitt-Hopkins syndrome, which is caused by a specific genetic mutation. We hope to begin human trials in a year. </p>
<h2>Pitt-Hopkins syndrome</h2>
<p>Many individuals who meet the criteria for <a href="https://www.nimh.nih.gov/health/topics/autism-spectrum-disorders-asd/index.shtml">autism spectrum disorder</a> (ASD) are, despite any stereotypes, not high functioning math whizzes eagerly recruited by technology companies for their unique cognitive skills. In fact, <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362908/">research shows</a> that adults with ASD are more economically, educationally and socially disadvantaged than adults with other developmental or intellectual disabilities. </p>
<p>In severe forms of ASD, such as <a href="https://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome">Pitt-Hopkins syndrome</a>, children learn to walk between 4 and 6 years old and most individuals are unable to speak. But a rare condition like Pitt-Hopkins might offer clues for treating a range of ASD and provide insight into why those “on the spectrum” are so unique.</p>
<p>The term autism describes a range of disorders where the brain functions differently. This is analogous to how the term cancer describes a collection of diseases characterized by out-of-control cell growth. The diagnosis of autism is typically made at around 2 to 3 years of age as children show repetitive behaviors and have trouble socializing. Until relatively recently, ASD was regarded as uncommon and thought to be caused by bad parenting, but we now know that autism is a neurodevelopmental disorder that <a href="https://www.cdc.gov/ncbddd/autism/data.html">occurs in about 1 in 59 people</a> and is not the result of parental behavior. </p>
<p>The exact causes remain unknown, but some <a href="https://www.nichd.nih.gov/health/topics/autism/conditioninfo/causes">mix of environmental factors and a plethora of usually tiny genetic differences</a> combine to alter brain development beginning in infancy. This pushes brain development onto a trajectory that is different from what we perceive to be normal.</p>
<p>The many factors that contribute to ASD make them particularly tricky to understand. The number of variables is high, making it almost impossible to examine any single factor in isolation. For this reason, a rare condition like Pitt-Hopkins is a valuable case for autism research and the findings may yield insights into other types of ASD. Pitt-Hopkins syndrome is caused by a mutation within a gene on the 18th chromosome. Besides creating problems with walking and speech, this mutation also causes distinct facial features and sometimes makes it hard for people to breathe.</p>
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<a href="https://images.theconversation.com/files/271003/original/file-20190425-121249-14zitcg.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=1000&fit=clip"><img alt="" src="https://images.theconversation.com/files/271003/original/file-20190425-121249-14zitcg.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&fit=clip" srcset="https://images.theconversation.com/files/271003/original/file-20190425-121249-14zitcg.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=600&h=600&fit=crop&dpr=1 600w, https://images.theconversation.com/files/271003/original/file-20190425-121249-14zitcg.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=600&h=600&fit=crop&dpr=2 1200w, https://images.theconversation.com/files/271003/original/file-20190425-121249-14zitcg.jpg?ixlib=rb-1.1.0&q=15&auto=format&w=600&h=600&fit=crop&dpr=3 1800w, https://images.theconversation.com/files/271003/original/file-20190425-121249-14zitcg.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=754&h=754&fit=crop&dpr=1 754w, https://images.theconversation.com/files/271003/original/file-20190425-121249-14zitcg.jpg?ixlib=rb-1.1.0&q=30&auto=format&w=754&h=754&fit=crop&dpr=2 1508w, https://images.theconversation.com/files/271003/original/file-20190425-121249-14zitcg.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"></a>
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<span class="caption">Early signs that a child may be suffering from an autism spectrum disorder.</span>
<span class="attribution"><a class="source" href="https://www.shutterstock.com/image-vector/autism-early-signs-syndrome-children-spectrum-1175748292?src=szCWj3vo4Ge5mXU1IYMzdA-1-93">KateDemianov/Shutterstock.com</a></span>
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<h2>A first specific treatment for autism?</h2>
<p>Because the genetic cause of Pitt-Hopkins is known, we can study the mutation in the lab to better understand how it changes brain function. The name of the mutated gene is transcription factor 4 (TCF4). It is highly active during early brain development in infancy. When the gene is turned on, it increases the production of two ion channels. These proteins allow ions (specifically, sodium and potassium) to travel in and out of the cell and are found on the membrane of the brain’s neurons. </p>
<p>Specifically, these ion channels become overly active, modifying how nerve cells function and how they respond to signals from other neurons, and therefore how the brain works. When we tested this in rodent and cell models, <a href="https://doi.org/10.1016/j.neuron.2016.02.021">we found</a> that the Pitt-Hopkins mutation alters the function of the brain’s neurons, which are ultimately responsible for the cognitive and social abnormalities that we find in people. In these cell and animal models, nerve cells responded abnormally to being stimulated. Instead of sending back signals when stimulated, they tended to shut down. </p>
<p>With this knowledge, a team of investigators here at the <a href="https://www.libd.org/">Lieber Institute</a> began searching for a drug that could block the activity of these ion channels and effectively change the behavior of the neurons. As it turned out, several pharmaceutical companies had created drugs to target one of these ion channels, one of which we found to work in the abnormal nerve cells and animals. We are in the final stages of licensing this compound for a human trial in young adults with Pitt-Hopkins syndrome, which we hope to start in about a year. </p>
<p>This would then become the first treatment for autism based on understanding a specific causative mechanism. </p>
<p>This doesn’t fix everything of course. By altering how each nerve functions from the time of early development, Pitt-Hopkins also forever changes the brain’s architecture. But if we can fix how the neurons operate, we may rescue normal brain activity for people with this condition.</p>
<p>To be clear, children and young adults with Pitt-Hopkins syndrome face significantly different challenges compared to, say, an individual with Asperger’s, who is socially awkward but highly functional and gainfully employed. But no matter where we look on the spectrum, in order to better understand all forms of autism we have to start uncovering the underlying biology of these conditions. It’s opening a crack in a tiny window that can help explain what is happening.</p><img src="https://counter.theconversation.com/content/115708/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Daniel R. Weinberger 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>The complexity of autism makes research difficult, but understanding even rare forms of autism is leading to greater insight into the biology of these disorders and potential new treatments.Daniel R. Weinberger, Director of the Lieber Institute for Brain Development and Professor, Departments of Psychiatry, Neurology, Neuroscience and The Institute of Genetic Medicine, Johns Hopkins UniversityLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/956362018-04-25T22:44:34Z2018-04-25T22:44:34ZToronto attack: Autism does not increase risk of violence<figure><img src="https://images.theconversation.com/files/216378/original/file-20180425-175041-47c8kj.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">Alek Minassian (second from left in this courtroom sketch) is accused of driving a van into pedestrians along a stretch of a busy Toronto street on Monday April 23, 2018.</span> <span class="attribution"><span class="source">(THE CANADIAN PRESS/Alexandra Newbould)</span></span></figcaption></figure><p>News reports have linked the van attack that killed 10 pedestrians in Toronto this week to <a href="https://www.theglobeandmail.com/canada/toronto/article-suspect-in-toronto-van-attack-described-as-socially-awkward-tech/">the possibility the alleged driver has Asperger’s syndrome</a>, a <a href="https://theconversation.com/what-happened-to-aspergers-syndrome-89836">clinical diagnosis</a> that is currently considered to be part of autism spectrum disorder (ASD). </p>
<p>Alek Minassian, who has been charged with 10 counts of murder and 13 counts of attempted murder, has been described by former classmates and acquaintances as someone with social difficulties and behavioural tics. </p>
<p>It’s not the first time alleged perpetrators of violent acts have been linked to autism.</p>
<p>Coverage of school shootings at <a href="https://www.independent.co.uk/news/world/americas/sandy-hook-massacre-adam-lanza-paedophilia-fbi-files-mass-shooting-newtown-elementary-school-a8018566.html">Sandy Hook</a> and <a href="https://www.cnn.com/2018/02/16/us/shooter-profile-invs/index.html">Parkland</a> in the United States similarly linked these acts of deadly violence to potential diagnoses of autism.</p>
<p>Autism advocates have been quick to respond — <a href="https://www.thestar.com/news/gta/2018/04/24/autism-not-associated-with-violence-advocates-say.html">autism does not typically cause violence</a> or motivate an individual to drive a van into pedestrians on a crowded city street. </p>
<p>So what does the science say? Are those with ASD more prone to violence and, if so, what precautions should be taken? </p>
<h2>Reduced risk of violence</h2>
<p>The straightforward and scientifically supported answer to the question is unequivocally that <em>no</em>, individuals with ASD are <em>not</em> prone to violence any more than any other individual in society. </p>
<p>On the surface, the link may appear to be warranted. There is a belief that, in addition to <a href="https://autismcanada.org/about-autism/characteristics/">core social communication and other behavioural difficulties</a>, <a href="https://link.springer.com/article/10.1023%2FB%3AJADD.0000022607.19833.00">individuals with ASD also present with limited or non-existent empathy towards others</a> that may lead to a propensity for violence. </p>
<p>But one of the <a href="https://www.jaacap.com/article/S0890-8567(17)30150-8/fulltext">most rigorous studies to date</a> on this topic has shown that, in fact, individuals with ASD are <em>less</em> likely to engage in violent acts. </p>
<p>This study, which examined almost 300,000 individuals in Sweden, explored psychiatric diagnoses, gender, age, and many other variables in the context of violent crime. Overall, 4.4 per cent of individuals with ASD in this large sample were convicted of violent crime in contrast to 2.6 per cent of individuals without ASD. This increased risk of 40 per cent would seem to suggest autism as an influential factor. </p>
<p>However, once co-occurring conditions were accounted for, the rate of violent acts by those with only ASD was less than the group without ASD. </p>
<p>And, importantly, the evidence indicates that having ASD actually <em>reduced</em> the risk of violence. </p>
<p>In essence, it is not having a form of autism that contributes to an individual’s propensity for violent acts; rather, other psychiatric conditions such as <a href="https://www.psychologytoday.com/us/conditions/conduct-disorder">conduct disorder</a> and/or adverse childhood experiences appear to be much stronger factors. </p>
<p>Other researchers have investigated this topic and <a href="https://www.mdedge.com/psychiatry/article/77690/neurology/violent-behavior-autism-spectrum-disorder-it-fact-or-fiction">arrived at similar conclusions</a>.</p>
<h2>Media fear-mongering</h2>
<p>So, what should we take from this? First, journalists should be more aware of their power to influence public perceptions of those with mental health challenges. </p>
<p>They should be clear on what ASD is before asserting that it had any role to play in the atrocities of late. </p>
<p>Second, focusing the narrative around a single potential causal factor for violent acts simplifies what is, inherently, a complex issue. Perpetrators of violence do not commit their acts because of any one single factor. To state that Asperger’s syndrome may cause an individual to behave in this manner is false at best, and very harmful to a large number of individuals.</p>
<p>Third, and most importantly, the public should be better informed about the array of amazing and unique individuals who have ASD. </p>
<p>As almost any individual with autism, their family, or people that support them will tell you, it does not contribute to propensity for violence; however, people with autism are often victims of it. </p>
<p>Researchers and clinicians struggle to provide this information to the public in an effective manner. There are significant efforts to improve society’s understanding of those with ASD — such as <a href="https://autismcanada.org/get-involved/national-autism-awareness/">World Autism Awareness Day</a> and many local, provincial, and national events to educate society about ASD — many of which have proven to be effective. </p>
<p>We now have to progress towards society’s acceptance of those with autism. This will involve learning about ASD and how we can all work and live together to our mutual benefit, without a climate of fear-mongering or inaccurate information. </p>
<p>If we can achieve that, we will all be better off.</p><img src="https://counter.theconversation.com/content/95636/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Adam McCrimmon 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>The evidence indicates that having autism spectrum disorder actually reduces the risk of violence.Adam McCrimmon, Associate Professor of Educational Studies in School Psychology, University of CalgaryLicensed as Creative Commons – attribution, no derivatives.tag:theconversation.com,2011:article/898362018-03-08T22:08:37Z2018-03-08T22:08:37ZWhat happened to Asperger’s syndrome?<figure><img src="https://images.theconversation.com/files/208584/original/file-20180301-152559-ef4kzb.jpg?ixlib=rb-1.1.0&q=45&auto=format&w=496&fit=clip" /><figcaption><span class="caption">In 2013, the American Psychiatric Association stopped using the clinical term Asperger's syndrome, grouping the condition with other forms of autism under the term 'Autism Spectrum Disorder.'</span> <span class="attribution"><span class="source">(Shutterstock)</span></span></figcaption></figure><p>I often get asked “Does my child have Asperger’s?” in my clinical work. Or, “Do I have Asperger’s?” </p>
<p>These are challenging questions to answer. They have stimulated much debate among clinicians, researchers, and those who have identify with the term over the past several years.</p>
<p>Asperger’s Disorder (more commonly referred to as Asperger’s syndrome) is linked to the work of Hans Asperger, an Austrian physician who published his initial work in German in 1944. </p>
<p>He described children who presented with strong vocabulary and language skills in conjunction with a range of symptoms: Odd social use of language and tone of voice, social isolation from peers, repetitive behaviours, strong interests in unusual topics, and a desire to maintain structure and routine in their lives. </p>
<p>Much of the English-speaking world remained unaware of Asperger’s work until 1991 when it was <a href="https://www.cambridge.org/core/books/autism-and-asperger-syndrome/2B02EA3FF2E15A53E4B905446C47A6E8">translated and brought to the attention of clinicians</a> by <a href="https://www.theguardian.com/lifeandstyle/2011/may/24/autistic-spectrum-disorder-lorna-wing">English psychiatrist Lorna Wing</a>. </p>
<p>Although this description is similar to that of autism, Asperger’s account differed in that speech was less commonly delayed, motor clumsiness was more common, onset of symptoms occurred later, and his initial cases were all male.</p>
<h2>A ‘pervasive developmental disorder’</h2>
<p>Asperger’s syndrome made its official appearance when the World Health Organization (WHO) published the initial version of the <a href="http://apps.who.int/classifications/icd10/browse/2010/en#/F84.5">International Classification of Diseases (ICD), 10th edition</a>. </p>
<p>Subsequently, the American Psychiatric Association (APA) included it in the newly defined category of Pervasive Developmental Disorders (PDDs) alongside Autistic Disorder and other similar diagnostic terms in 2000, which brought more widespread clinical attention and an appreciation that not only males can be affected.</p>
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<figcaption><span class="caption">Increasingly movies, such as ‘Mozart and The Whale,’ depict characters with Asperger’s syndrome.</span></figcaption>
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<p>Interestingly, the APA reportedly included Asperger’s in an effort to <a href="http://www.childpsych.theclinics.com/article/S1056-4993(02)00052-4/fulltext">prompt researchers to identify potentially distinct subgroups of autism</a> — so that assessment and treatment could be refined and targeted. </p>
<p>These efforts yielded variable results, and the general research consensus is that <a href="https://link.springer.com/article/10.1007/s10803-004-2001-y">clinicians applied diagnostic criteria inconsistently</a> and that <a href="https://jamanetwork.com/journals/jamapsychiatry/fullarticle/1107413">individuals with Asperger’s and autism are more similar than different</a>. </p>
<h2>Replaced by ‘Autism Spectrum Disorder’</h2>
<p>As a result of this inconsistent application and similarities among the PDDs, the APA removed the clinical term from use and replaced it with a broad Autism Spectrum Disorder (ASD) term — encompassing several previous distinct disorders — when they published their <a href="https://www.google.ca/url?sa=t&rct=j&q=&esrc=s&source=web&cd=3&ved=0ahUKEwih9ryd-aXZAhUrwVQKHbsnA9oQFghIMAI&url=https%3A%2F%2Fwww.psychiatry.org%2FFile%2520Library%2FPsychiatrists%2FPractice%2FDSM%2FAPA_DSM-5-Autism-Spectrum-Disorder.pdf&usg=AOvVaw3X2R_mnICR-j5rcKTNTZrm">most recent diagnostic manual</a> in 2013. </p>
<p>However, the WHO continues to use the term, at least until they release the <a href="http://apps.who.int/classifications/icd11/release/f/en#/http%3a%2f%2fid.who.int%2ficd%2fentity%2f437815624">ICD 11th edition</a> in 2019, which is reported to also use ASD in place of previous diagnostic terms.</p>
<p>It is this recent transition in clinical terminology that has stimulated substantial debate. </p>
<p>Should Asperger’s syndrome have been removed from use and replaced by the broad ASD term? </p>
<p>Scientists, clinicians and those living with Asperger’s have disagreed, sometimes quite strongly, on this topic. There was initial evidence that the new APA framework would result in a substantial number of individuals with Asperger’s syndrome <a href="http://www.jaacap.com/article/s0890-8567(12)00042-1/abstract">no longer meeting criteria for a clinical diagnosis</a>. And there are concerns this could have a <a href="http://www.tandfonline.com/doi/abs/10.1080/1536710X.2014.912186">negative impact on their financial support and services</a>, which are dependent on a diagnosis. </p>
<p>However, the APA states that individuals who had a diagnosis under the previous framework should not lose their diagnosis. And research has supported the grouping of previous clinical labels under the broader ASD term. </p>
<h2>‘Aspies’ identify with clinical label</h2>
<p>Despite these views, Asperger’s syndrome has become societally popular, with characters in <a href="http://www.accountantmovie.com/#start">movies such as <em>The Accountant</em></a> and <a href="https://www.nbc.com/community?nbc=1">television shows such as <em>Community</em></a> being portrayed as either having the condition or displaying traits commonly associated with it. </p>
<p>An interesting social phenomenon also began to occur in the early 2010s, in which those with Asperger’s began to personally identify with their clinical label — referring to themselves as “Aspies” or other similar terms that represent their unique attributes and characteristics. </p>
<p>Indeed, it is this personal identification that has led to some of the more <a href="http://journals.sagepub.com/doi/abs/10.1177/1363459313488006">personal or emotional responses to the changes in diagnostic terminology</a>, with Aspies often <a href="http://journals.sagepub.com/doi/abs/10.1177/1049731513495457">rejecting the term ASD</a>.</p>
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<figcaption><span class="caption">In ‘The Accountant,’ Christian Wolff (Ben Affleck) is a math savant who works as a freelance accountant for some of the world’s most dangerous criminal organizations.</span></figcaption>
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<p>In the end, it appears as though Asperger’s has faded from clinical use, while remaining a popular term to describe a certain type of individual. </p>
<p>Given that the term was initially introduced in an effort to determine if it truly differs from other clinical descriptions, it is interesting to observe and reflect upon society’s adoption and integration of it. </p>
<h2>Asperger’s unique characteristics</h2>
<p>Many clinicians will even admit (if only privately) that they understand the unique characteristics demonstrated by someone with Asperger’s. </p>
<p>As for how I respond to parents, I try to describe the current clinical framework and how it has evolved over time. </p>
<p>I tell them that I appreciate the unique attributes commonly associated with the Asperger’s term and I suggest that if their child’s behaviour seems to align with that description, then they or their child may feel more comfortable thinking about things in that way. </p>
<p>I also work with families to understand how people can often personally identify with clinical terms (for example “an autistic person” as opposed to “a person with autism”) as there is concerted effort from the ASD community to use such person-first language. </p>
<p>In the end, the term that clinicians, families or individuals use is a matter of personal preference. One thing is certain though, Asperger’s is here to stay, even if the diagnosis isn’t.</p><img src="https://counter.theconversation.com/content/89836/count.gif" alt="The Conversation" width="1" height="1" />
<p class="fine-print"><em><span>Adam McCrimmon 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>As awareness of Asperger’s syndrome has risen within popular consciousness and culture, it has faded from clinical use.Adam McCrimmon, Associate Professor of Educational Studies in School Psychology, University of CalgaryLicensed as Creative Commons – attribution, no derivatives.