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.