Diagnosing Autism

“If you’ve met one person with autism, you’ve met one person with autism.” (Dr. Stephen Shore)

In the last years of my practice, I specialized in the diagnosis and treatment of autism. Of the many children brought to me for an evaluation only a small percentage were easily diagnosed.  The majority presented with some autistic-like findings but with other features that just did not fit the diagnosis. Rarely did I see a child present with the ‘full package’ of autism; language delays, social delays and rigid/repetitive behaviors. No two children I saw were ever alike. Each child came with a unique profile of strengths and challenges.

It was once hoped that scientists would discover a gene causing autism.  Instead, over 600 genes have been discovered that cause vulnerability to autism.  Furthermore, some of the same genes that cause vulnerability to autism also cause vulnerability to other neurodevelopmental conditions including, ADHD, language delays, fine motor delays, tic disorders and schizophrenia.  We now know that the genetics of autism is extraordinarily complex.

Add to this another layer of complexity, the new science of epigenetics.  Not only are there over 600 genes responsible for developmental vulnerability, there are hundreds of environmental influences that may turn on and off some of these genes.  It’s not only the genes that determine whether a child might develop autism.  It’s also the environment.

With all the combinations and permutations of over 600 genes, combined with countless environmental influences, it is understandable why each ‘autistic’ child is unique, one of a kind.  However, at times it was a challenge explaining this to parents who came to see me, just wanting a straightforward diagnosis.

‘Autism’ is no more than a label, which has served its purpose but, given current research, is becoming increasingly inadequate and anachronistic.  I predict that in the coming years, we will see the labels change, new diagnoses reflecting a more current level of knowledge.

Compared to when I started in practice, a great deal more is now known about autism and about genetics.  Sometimes, to know more is to find answers.  Sometimes, to know more is to realize how much more there is yet to discover and to understand.