Screening Method Detects Chromosomal Abnormalities Associated with Autism

Multiplex ligation-dependent probe amplification (MLPA), a recently developed method of investigating DNA, was evaluated as a screen for chromosomal disorders commonly associated with autism spectrum disorders (ASDs).

ASDs have been increasingly associated with genetic abnormalities. At the same time, many children with ASDs also have some degree of cognitive impairment. In this study, the authors used MLPA on a group of 279 children with ASD, looking for abnormalities that are known to be associated with cognitive impairment.

Professor Joseph Buxbaum from Mount Sinai School of Medicine (New York, NY, USA) led the team of scientists tasked with evaluating the use of MLPA in genetic counseling. He said, "By focusing on well-known genetic disorders, rather than assaying an individual's entire genome, MLPA allows for much more efficiency.” As additional genetic abnormalities associated with ASDs are identified, additional probes can be used in future screens. Professor Buxbaum added, "MLPA is a relatively practical, inexpensive and fast tool for screening chromosome rearrangements in autism spectrum disorders."

The scientists demonstrated the effectiveness of MLPA as a screen for known genetic disorders, and identified new genetic changes that are likely to contribute to ASD, such as novel duplications (extra copies of genetic material) in chromosomes 15 and 22, which may increase liability and/or exacerbate ASD symptoms.

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Mount Sinai School of Medicine