Autism spectrum disorder (ASD) profoundly impacts how individuals interact, communicate, learn, and behave. But diagnosing ASD isn’t straightforward – it relies on standardized tests and observations, much like identifying ADHD or giftedness. There’s no simple blood test or brain scan that can definitively diagnose Autism.
It is important to recognize many disorders share traits with autism. For instance, children with Fragile X syndrome often meet criteria on autism diagnostic tools like the ADOS. While it’s possible to have both conditions, this raises an intriguing question: Could some kids diagnosed with ASD actually have undiagnosed genetic disorders?
Recent research suggests autism’s cause is likely 80%-90% genetic. A groundbreaking study from Boston Children’s Hospital recommends whole exome sequencing (WES) as a primary diagnostic tool for children with neurodevelopmental conditions. This technology, only readily available for about a decade, is proving to be a game-changer in uncovering genetic links.
Why does this matter? Understanding your child’s genetic makeup could reveal:
• Potential medication allergies
• Risk of seizures
• Early signs of heart conditions or other
• Insights from families with similar genetic profiles
It’s not just about autism either. Studies show that 40-50% of children diagnosed with Cerebral Palsy (CP) have genetic disorders. Both CP and ASD can sometimes be umbrella diagnoses without identifying the true underlying cause.
If you’re considering genetic testing, be aware that geneticists often have long wait lists, and tests can be costly. However, whole exome testing is becoming more accessible. Probably Genetic offers FREE and fast whole exam testings. They have an autism specific panel too. This is such a GREAT resource. https://www.probablygenetic.com
Remember, genetic variants can be inherited from one or both parents, or they can be de novo, meaning they weren’t inherited. There’s a good chance the variation occurred during early embryonic development rather than being passed down. So, even if there is no family history of developmental delays, your child can still have a genetic disorder.
By delving into the genetic factors at play, we open doors to better support, targeted interventions, and potentially game-changing treatments for our incredible kids. The more we understand, the better equipped we are to provide the best possible care and support.