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Genetics and Autism: New Research Means New Hope

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Genetics could be the main cause of autism.

The cause of autism could ultimately be found in our genetics.

More common than Down’s Syndrome, childhood cancer, cystic fibrosis, multiple sclerosis, even blindness and deafness, are Autism Spectrum Disorders (ASDs). Today in Canada, at least 1 in every 165 children are diagnosed with a form of autism, a developmental disorder that seriously limits a child’s ability to communicate and interact with others and their surroundings. For decades, doctors, specialists, and organizations like Autism Speaks and The Geneva Centre for Autism have been stumped as to the causes of ASDs – why it sometimes appears in families with histories of autism and other times occurs out of the blue, why one child can be diagnosed with it while their sibling develops without a problem, and why autism manifests itself so differently in each person, and to various levels of severity from the milder form of Asperger’s Syndrome to the potentially life-threatening Rett Syndrome.

Fortunately, a major breakthrough in autism research was published this week in the scientific journal, Nature. Led by scientists from Toronto and Hamilton, Ontario, a team of 120 Autism specialists across North America and Europe studied the genetics of 1,500 different families in the largest study of its kind in history, and discovered dozens of genes related to the formation of autism. They concluded that individuals with the disorder do not share common mutations and instead have completely unique, varied, and sometimes spontaneous genetic deletions and duplications. This is both good news and bad news: It helps explain why the symptoms of Autism differ so widely between individuals and even within families, but it also means that there is no simple DNA test that can be administered to search for the problematic gene. However, what is promising is that the team also found that each deformed gene appeared to perform the same function, and began affecting brain development even in utero. This means doctors have a better idea of what genes to target for treatments, and can develop revolutionizing tests to detect autism in children even before symptoms start to appear.

Autism warning signs usually arise within the first three years, but screening doesn’t typically start until the child is 16 months old. And some children with the Childhood Disintegrative Disorder form of autism develop normally until three or four years, then lose their verbal and social skills. By the time some parents realize their child may have the disorder and seek medical attention, they may already be miles behind in waitlists for autism treatments and classes – the kind of early care that is essential for a successful outcome. Administering early tests to detect the risk of a child developing autism can give parents valuable time to arrange for proper care for their son or daughter, and to prepare themselves for the challenges that raising an autistic child demands.

But raising a child with autism can be just as rewarding as it is trying. Many children are incredibly original, creative, and genuinely kind and innocent. Some parents even wish a cure for autism is never reached. But earlier detection means that more children will have a better chance of receiving the education and individual attention they need through special needs schools and parents who are ready to take on their daily battles. Though the cause of ASDs is still lost in a myriad of genetic combinations, this new study untangles a few of those knots, and helps some confused families tie up a few of their own loose ends when it comes to autism.

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