Proportion of Autism can be detected by gene tests

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According to a recent study published in the February issue of the American Journal of Human Genetics, variations of genetic material, such as translocation, inversions, gains, and losses, are common among patients with Autism. According to Stephen Scherer, Ph.D., of the Hospital for Sick Children, and one of the authors of the study, overlapping or recurrent chromosomal changes were observed in 13 different genetic regions in the 427 patients with autism in the study.

One thing that is important for physicians to come to terms with, with regards to the identification of autism, is that genetic testing can and should be used when autism is suspected as a part of a good clinical work-up. The following is an excerpt of an article from Medpage Today that reviews the study:

The “most compelling result” was a copy number variation on chromosome 16 that was seen in 1% of the autism patients but not in healthy controls, the researchers said.
The same copy number variation was reported in December in Human Medical Genetics and again Jan. 9 in the New England Journal of Medicine. (See: Chromosome 16 Mutations Linked to Autism)

But Dr. Scherer and colleagues also found a range of other abnormalities that can be detected with microarray analysis or karotyping and which might be used to help make a diagnosis of autism. “Structural variants were found in sufficiently high frequency influencing ASD to suggest that cytogenetic and microarray analyses be considered in routine clinical workup,” they wrote.

Click here to read the entire article from Medpage Today

About Rolf Gainer Ph.D.

Dr. Rolf Gainer is the founder of the Neurologic Rehabilitation Institute at Brookhaven Hospital in Tulsa, Oklahoma as well as the Neurological Rehabilitation Institute of Ontario, in Toronto, Canada. Dr. Gainer is a psychologist with more than twenty-five years of experience in the treatment and rehabilitation of individuals with brain injuries and a dual diagnosis. Dr. Gainer has designed and operated innovative rehabilitation programs in the United States and Canada for individuals who have been regarded as difficult to serve. He is currently involved in conducting two outcome studies related to the long-term issues faced by individuals with brain injuries and a dual diagnosis. He has presented papers throughout the United States and Canada in many professional conferences and educational forums.
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