Phenotypic Description of Autism Spectrum Disorder and Psychopathology in Maternal 15q Duplication Syndrome

This study established a comprehensive neuropsychiatric evaluation protocol for individuals with maternal 15q11-q13 duplication syndrome (associated with ~0.5% of autism cases) using standardized assessments for autism traits, cognitive/adaptive functioning, and co-occurring psychiatric symptoms. Results from 6 individuals showed cognitive impairment in all participants, below-average adaptive functioning in most, and variable autism diagnoses with co-occurring behavioral and sleep disturbances.