Addressing the increased risks of certain diseases among those with Down syndrome could help improve their quality of life.
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Joaquin Espinosa, University of Colorado Anschutz Medical Campus
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.
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.
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.
Couples who are carriers of genes for recessive diseases don’t show any symptoms.
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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?
Autism has become a default consideration for any child who struggles socially, behaviourally, or with sensory stimuli.
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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.
Couples thinking about kids can be screened for genes that may cause disease in their offspring.
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Gina Ravenscroft, The University of Western Australia; Nigel Laing, The University of Western Australia, and Royston Ong, The University of Western Australia
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?
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.
Much more needs to be done to tackle negative attitudes to people with a learning disability.
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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…
NRL player Craig Wing has a sister with Down Syndrome.
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“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…