One in every 100 people in the UK is believed to be autistic. That’s around 700,000 children and adults. According to the National Autistic Society, if you include the families of those with autism in the picture, that’s around 2.8 million people who live with the condition as part of their day-to-day life.
Why the exponential rise in autism cases?
The number of cases of autism has risen steeply in recent years. According to the US Centers for Disease Control, in the year 2000 one in 150 people in the US had the condition. That figure has jumped every two years, as new statistics have been announced. The latest figures from the Center, announced in 2018, conclude that one in 59 US citizens is autistic.
Scientists question what is causing this exponential rise and a number of theories have been posited. Part of the increase is believed to be the fact that diagnosis has improved so the condition is being picked up in more people, including milder forms of the condition, like Asperger’s which might have been overlooked before.
Awareness of autism has also improved, so parents and doctors are more likely to screen children if they show early signs of the condition.
However, this rise in diagnoses can bring problems of its own. In younger children it can be more difficult to distinguish between autism and ordinary developmental differences – late talking, for example – or intellectual disabilities. While late talking can be a sign of autism, not all two-year olds who talk late are autistic.
Genetic mutations in people with autism
Some doctors are concerned that the definition of autism is now so broad that a diagnosis does not provide sufficient information.
There are more than 500 different mutations associated with autism, so labelling someone as having the condition may not offer many clues as to their symptoms or possible treatment.
Genetic testing is increasingly being recognised as a solution to the problem. Using a simple saliva test, it is possible to identify patient-specific genetic markers that provide a definitive diagnosis of autism and can indicate which type of treatments would be most effective.
Scientists believe that up to 60% of cases of autism may have underlying genetic causes. Fragile X Syndrome and Rett Syndrome are among the neurodevelopmental disorders that are caused by genetic mutations. Both are behaviourally classified as autism.
Myogenes is one of the companies leading genetic testing for psychiatric conditions like autism using the Genecept Assay test. Doctors take a cheek swab which is then sent away to the laboratory for testing. By analysing key genes, it is possible to identify genetic variations that are associated with autism.
How genetic testing can help autism treatment
Not only does this provide vital information about the form of the condition, but it also helps to inform treatment decisions by highlighting which drugs are likely to work best with no unwanted side effects. In published studies the Genecept assay has been shown to improve patient outcomes by targeting treatment more effectively.
Scientists believe that having a genetic diagnosis may also help to alert families to other potential health problems that can be linked to certain genetic mutations, such as heart defects or problems with the immune system.
A study published in June 2015 in the Journal of Autism and Developmental Disorders found that more than 60% of parents who received a genetic test result for their child with autism found that information helpful. In some cases, linking up with other families whose child has the same genetic mutation can be a source of additional help and support.