Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations.

ABSTRACT:

Background

Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder associated with a terminal deletion affecting chromosome 22 (22q13) that results in the loss of function of the SHANK3 gene. SHANK3 has also been identified in gene-linkage studies to be associated with autism spectrum disorder (ASD). Diagnosis of ASD in individuals with PMS is complicated by the presence of moderate to profound global developmental delay/intellectual disability as well as other co-morbid systemic and neurological symptoms.

Methods

The current study aimed to characterize the symptoms of ASD in patients with PMS and to do a preliminary exploration of genotype-ASD phenotype correlations. We conducted a standardized interview with 40 parents/guardians of children with PMS. Further, we co

SUBMITTER: Oberman LM 

PROVIDER: S-EPMC4549933 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature