Article
Sleep disturbances in Phelan-McDermid syndrome: Clinical and metabolic profiling of 56 individuals.
Clinical genetics - 1 Aug 2023
Moffitt Bridgette A, Oberman Lindsay M, Beamer Laura, Srikanth Sujata, Jain Lavanya, Cascio Lauren, Jones Kelly, Pauly Rini, May Melanie, Skinner Cindy, Buchanan Caroline, DuPont Barbara R, Kaufmann Walter E, Valentine Kathleen, Ward Linda D, Ivankovic Diana, Rogers R Curtis, Phelan Katy, Sarasua Sara M, Boccuto Luigi
Abstract excerpt
Phelan-McDermid Syndrome (PMS) is caused by deletions at chromosome 22q13.3 or pathogenic/likely pathogenic SHANK3 variants. The clinical presentation is extremely variable and includes global developmental delay/intellectual disability (ID), seizures, neonatal hypotonia, and sleep disturbances, among others. This study investigated the prevalence of sleep disturbances, and the genetic and metabolic features...
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