Distinct Neurocognitive Profiles and Clinical Phenotypes Associated with Copy Number Variation at the 22q11.2 Locus.

ABSTRACT: Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn-CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (M_Age=19.2 years, 49.1% male), 30 22qDup carriers (M_Age=17.3 years, 53.3 % male), and 41 typically developing (TD) subjects (M_Age=17.3 years, 39.0 % male). We performed linear mix

SUBMITTER: O'Hora KP 

PROVIDER: S-EPMC10246073 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature