Abnormal sleep physiology in children with 15q11.2-13.1 duplication (Dup15q) syndrome.

ABSTRACT:

Background

Sleep disturbances in autism spectrum disorder (ASD) represent a common and vexing comorbidity. Clinical heterogeneity amongst these warrants studies of the mechanisms associated with specific genetic etiologies. Duplications of 15q11.2-13.1 (Dup15q syndrome) are highly penetrant for neurodevelopmental disorders (NDDs) such as intellectual disability and ASD, as well as sleep disturbances. Genes in the 15q region, particularly UBE3A and a cluster of GABA_A receptor genes, are critical for neural development, synaptic protein synthesis and degradation, and inhibitory neurotransmission. During awake electroencephalography (EEG), children with Dup15q syndrome demonstrate increased beta band oscillations (12-30 Hz) that likely reflect aberrant GABAergic neurotransm

SUBMITTER: Saravanapandian V 

PROVIDER: S-EPMC8336244 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature