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Autism Spectrum Disorder (ASD) is a range of conditions that vary from mild social awkwardness and specific interests, as seen in Asperger’s, to severe communication and intellectual disabilities, according to the Centers for Disease Control and Prevention (CDC).
ASD now affects 1 in every 88 children in the U.S., which is nearly double the rate seen in 2002. Genetic testing is helping to answer some long-standing questions about the causes of autism, though often tests reveal no genetic abnormalities in individuals with autism, leaving researchers puzzled about the exact cause. Despite this, testing techniques are improving, and around 20% of autism cases are now linked to known genetic abnormalities.
Understanding the genetic causes or risk factors of autism can help predict whether siblings are likely to have the disorder and can lead to the development of new treatments. Genetic findings may also identify risks of other health issues associated with autism, such as cancer.
Currently, there’s no specific test for Autism Spectrum Disorder due to the significant role environmental factors play in its development. Diagnosis is based on symptoms and behavioral assessments. After a diagnosis, researchers examine the individual’s genes to identify possible genetic causes.
The American Academy of Pediatrics and the American College of Medical Genetics recommend that all children diagnosed with ASD undergo testing for chromosomal abnormalities. New tests, like chromosomal microanalysis, can detect small deletions or duplications in DNA sequences that are linked to autism.
Additionally, analyzing the DNA of parents with children who have autism can reveal if the disorder was inherited, potentially helping parents understand the risk of having more children with autism. Testing can also be recommended for those at high risk for autism but not yet diagnosed. Early diagnosis and intervention can improve a child’s IQ, language, and social skills.
However, diagnosis shouldn’t rely solely on genetic testing because environmental factors are also crucial in autism’s development. Many cases result from a combination of genetic and environmental influences.
For example, a study on twins with Autism Spectrum Disorder found a 70% chance that both identical twins will have the disorder, despite sharing the same genetic makeup. For fraternal twins, the likelihood increases, suggesting that shared prenatal environments may play a role.
Ongoing research, with increasing participation from families with multiple affected children, continues to identify more genes linked to autism. This progress is leading to a better understanding of ASD and how to treat it effectively.