As part of Fundamental Psychology’s ongoing commitment to include current research and education in our services and care for your family, Dr. Crooms attended the FSU Center for Autism and Related Disabilities (CARD) Training. Here’s part one of three educational blogs including some of the valuable information about the role genetics plays in the diagnosis and presentation of Autism.
Unraveling the Genetic Roots of Autism and Neurodevelopmental Disorders: Insights from Dr. David Ledbetter
Autism and related neurodevelopmental disorders (NDDs) are incredibly complex, both in how they appear and in what causes them. In a recent presentation, Dr. David Ledbetter—a leading expert in medical genetics—shared valuable insights into the genetic underpinnings of these conditions, painting a clearer picture of the science behind the spectrum.
Autism: Not One Condition, But a Spectrum
One of the key messages Dr. Ledbetter emphasized is that autism is not a single condition. Instead, it’s a spectrum of disorders that can stem from mutations in more than 1,000 different genes. Many of these genetic changes are de novo—meaning they arise spontaneously and are not inherited from a child’s parents.
In fact, approximately 30% of neurodevelopmental disorders have a known genetic cause. These can include:
- Single-gene mutations: where one faulty gene leads to changes in development
- Copy number variants (CNVs): where large sections of DNA are duplicated or deleted
Shared Genetics Across Disorders
Interestingly, these genetic causes often overlap across multiple conditions. For example:
- Autism Spectrum Disorder (ASD)
- Intellectual Disability (ID)
- Epilepsy
- Cerebral Palsy (CP)
Why Genetic Testing Matters
Dr. Ledbetter strongly advocates for comprehensive genetic testing for all children diagnosed with autism, regardless of severity. This is especially important because:
- Severe autism is more likely than mild or moderate autism to be linked with identifiable genetic changes.
- Professional organizations like the American Academy of Child and Adolescent Psychiatry (AACAP), American Academy of Pediatrics (AAP), and American College of Medical Genetics (ACMG) recommend genetic testing as part of standard care.
- Tests such as chromosomal microarrays and whole exome sequencing can find a genetic cause in about 20–25% of cases, and are often covered by insurance.
Personalized Care Through Genetics
Understanding the genetic basis of a child’s condition can be empowering. It opens doors to more tailored treatments, support services, and accommodations. But it’s not always straightforward.
Two children with the same genetic condition may show very different symptoms. This is due to phenomena like:
- Incomplete penetrance – not everyone with a mutation shows signs of the condition.
- Variable expressivity – individuals may have different features or levels of severity.
Moving Beyond Labels
Perhaps one of the most forward-thinking takeaways from Dr. Ledbetter’s presentation is the idea that we should move beyond rigid diagnostic categories. Instead of focusing on labels like “autism” or “intellectual disability,” he urges professionals to look at individual traits on a continuum. This more nuanced approach can help children get the support they need—based on how they function, not just on a label.
Final Thoughts
Genetics is reshaping how we understand autism and other developmental conditions. Thanks to leaders like Dr. David Ledbetter, families and clinicians are gaining tools that can lead to earlier diagnoses, more personalized interventions, and better outcomes for children.
If your child has been diagnosed with ASD or another developmental disorder, talk to one of our psychologists about the benefits of genetic testing. It could provide answers—and possibilities—you haven’t yet considered.
If your child does not have a diagnosis yet and you are considering an autism screener or testing, reach out for a complimentary 15 minute consult to determine the best next steps.
