A submission to the January issue of Genetics in Medicine, a journal of the American College of Medical Genetics, details the steps to a genetic diagnosis for autism spectrum disorders.  The article, Genetics Evaluation for the Etiologic Diagnosis of Autism Spectrum Disorders, was authored by G. Bradley Schaefer MD and Nancy J. Mendelsohn MD.  Here are a few excerpts of the article as obtained from Ovid Journals Online.

The diagnosis of ASDs is still a clinical one. It is based on behavioral history and behavioral assessments that document persistent deficits in reciprocal social behavior, communication, and restricted interests or repetitive behavior.

The problem with the current method of diagnosis is one doctor may diagnose autistic disorder while another would state the child has pervasive developmental disorder, not otherwise specified (PDD-NOS). 

Epidemiologic data support the presumption that autism is primarily a genetic disorder. The calculated heritability of autism is around 90%.

Data like this is not published by many of today’s leading autism organizations.  It is likely that this study and the projected plans for creating a genetic diagnostic test for autism will be met with controversy. 

An interesting part of the study is a table which lists “Chromosomal Hot Spots for Autism” - among others on the list is the 16p chromosome which was discussed in a January research study.  Other chromosomes of interest are 15q11-13, 7q22-31, 22q11, 22q13, 2q37, Xp, 18q, 17p, and 17q.  As the research from this study is implemented, it will be interesting to see what results are obtained. 

Source:

Schaefer, G Bradley MD & Mendelsohn, Nancy J Md.  Genetics evaluation for the etiologic diagnosis of autism spectrum disorders.  Genetics in Medicine.  January 2008, pp 4-12.  Obtained online from Ovid Journals.