Health Canal - Mount Sinai Researchers Provide the First Comprehensive and Prospective Characterization of a Genetic Subtype of Autism
In the first prospective study of its kind, Seaver Autism Center researchers at the Icahn School of Medicine at Mount Sinai provide new evidence of the severity of intellectual, motor, and speech impairments in a subtype of autism called Phelan-McDermid Syndrome (PMS). The data are published online in the June 11 issue of the journal Molecular Autism. Researchers led by Alex Kolevzon, MD, Clinical Director of the Seaver Autism Center, under the direction of Joseph Buxbaum, PhD, Director of the Seaver Autism Center, enrolled 32 participants with SHANK3 deletions to comprehensively assess their clinical symptoms and examine how the size of the SHANK3 deletion correlated to those symptoms. “Previous studies have not utilized prospective assessments to understand Phelan-McDermid Syndrome, and the prevalence of autism spectrum disorder has never been examined using gold-standard instruments” said Dr. Kolevzon.
- Dr. Joseph Buxbaum, Professor, Psychiatry, Genetics and Genomic Sciences, Director of the Seaver Autism Center, The Mount Sinai Medical Center
- Dr. Alexander Kolevzon, Associate Professor, Psychiatry, Pediatrics, Clinical Director of the Seaver Autism Center, The Mount Sinai Medical Center