Author:
Russo Rossana Sanchez,Gambello Michael J.,Murphy Melissa M.,Aberizk Katrina,Black Emily,Burrell T. Lindsey,Carlock Grace,Cubells Joseph F.,Epstein Michael T.,Espana Roberto,Goines Katrina,Guest Ryan,Klaiman Cheryl,Koh Sookyong,Leslie Elizabeth,Li Longchuan,Novacek Derek,Saulnier Celine A.,Sefik Esra,Schultz Sarah,Walker Elaine,White Stormi,Mulle Jennifer Gladys,
Abstract
AbstractPurposeTo understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care.Methods32 Individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments.ResultsMedical manifestations were varied and reported across nearly every bodily system, with congenital heart defects (25%) the most severe and heterogeneous gastrointestinal symptoms (81%) the most common. Physical exam revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with schizophrenia prodrome (15%), psychosis (20%), anxiety disorders (40%) and ADHD (63%). On neurological exam study subjects displayed only mild or moderate motor difficulties.ConclusionsBy direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.
Publisher
Cold Spring Harbor Laboratory
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