Autism Spectrum Symptoms in Prader-Willi Syndrome: Comparisons Across Genetic Subtype

Abstract

Recent research indicates that there is some phenotypic overlap between Prader-Willi Syndrome (PWS) and Autism Spectrum Disorders (ASD). Little research has examined these characteristics as a factor of genetic subtype of PWS, but the investigations that have been conducted indicate that individuals whose PWS is caused by maternal uniparental disomy (UPD) are at greater risk for expression of ASD symptoms versus those whose PWS is caused by deletions on chromosome 15. Results from the current study support these previous findings. Individuals in the UPD group were found to have significantly increased levels of autism symptoms as compared to their counterparts with deletions. Increased copies of the maternal chromosome in the genomic interval affected in PWS are the most common genetic abnormalities found to be associated with idiopathic autism. Taken together with these genetic findings, the behavioral evidence of phenotypic overlap between ASD and PWS supported by this study indicate that this overlap may arise from shared genetic mechanisms.