Medical Testing for Children with Autism

In this episode, I'm walking you through the essential medical tests that every parent of an autistic child should know about, and more importantly, how to decide which ones actually matter for your child. I cover five key areas of testing in autism: genetics, metabolic and nutritional health, brain function, gut health, and the immune system. For each one, I break down what the research says, what's clinically recommended, and how to think about whether it applies to your child.

We start with genetic testing, including chromosomal microarray and fragile X, the two tests that the American Academy of Pediatrics recommends as standard for every child diagnosed with autism, and I explain why genetic testing is not about blame or labeling but about understanding your child's biology.

I walk through metabolic and nutritional screening, including why mitochondrial dysfunction, which some estimates suggest may affect a third or more of autistic individuals, deserves attention, and why common nutrient deficiencies like iron, vitamin D, and B12 can quietly affect learning, mood, and energy in ways that are easy to miss.

I cover EEG and brain function, including how absence seizures can look like daydreaming and go undetected for years. I explain why gastrointestinal symptoms in autism are massively underdiagnosed, and how a child in chronic gut pain may not be able to tell you about it, showing it instead through irritability, aggression, or disrupted sleep.

And I take you into the emerging science of immune involvement in autism, from maternal immune activation to neuroinflammation to folate receptor autoantibodies, a specific and testable mechanism where treatment with leucovorin has shown real promise.

This episode is for you if: you've been told your child "has autism" but no one has walked you through the medical workup, you're unsure which tests are worth doing and which are noise, your child has symptoms like low energy, sleep problems, GI issues, or behavioral changes that no one has fully investigated, or you want a clear, science-backed framework for making informed decisions with your care team.

Throughout, I want you to remember: medical testing on its own is not the goal. Understanding your child is the goal. Supporting their biology is the goal. Creating the conditions where they can feel well, learn, connect, and grow. That is the goal.