Tuberous Sclerosis has a frequency of 1 out of 20,000 people. Autistic Spectrum Disorders amongst those with Tuberous Sclerosis is 43%-86% in epidemiological studies.
I discovered this because my Shagreen Patches have again been irritated by something, along with subungual fibromas disrupting my toe nail anatomy. I also have epilepsy, and epilepsy happens in 78% of cases of Tuberous Sclerosis. I have genetic dental problems that are also very common with Tuberous Sclerosis. My very large, and unusual type, of Becker's Nevus is not suppose to be related to Tuberous Sclerosis, but many types of nevi are. If these readily apparent impairments were independent of each other, the chances that I would have them would be about one out of a few hundred million, while having them as a result of Tuberous Sclerois would be about one out of thirty thousand. Money stops me from getting genetic testing for Tuberous Sclerosis and genetic disorders possibly independent of it (such has genetic hypodontia, other nevi tuberous disorders, LQTS-2, etc.).
Whether Autism is associated from the epilepsy, or directly from the sclerosis (which may have "caused" everything else) "remains to be examined". From: "Neurocutaneous Syndromes and Epilepsy—Issues in Diagnosis and Management" by J. Helen Cross, page 18 (Epilepsia, 46(Suppl. 10):17–23, 2005), often at:
http://onlinelibrary.wiley.com/doi/10.1 ... x/abstract
The more relevant references are:
http://www.ncbi.nlm.nih.gov/pubmed/12023313
http://www.ncbi.nlm.nih.gov/pubmed/10550700
http://www.ncbi.nlm.nih.gov/pubmed/16174309
If I have Tuberous Sclerosis, the epilepsy is the most disruptive, the autism is more of Asperger's, the heart conditions more like LQTS-2, with minor to moderate liver, kidney, skin, dental, and digestive problems from other possible "tubers" in fluctuating disruptions.
Much confusion results from the "a priori" nature of DSM disorders, versus the much more empirical base for nearly exclusive physical disorders often with strong correlations to DSM disorders.
Tadzio
"Tuberous sclerosis is one of the few established medical causes of autism spectrum disorder and is a unique neurogenetic model for testing theories about the brain basis of the syndrome."
Full article often at: http://brain.oxfordjournals.org/content/125/6/1247.long