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Direct linkSiddharth Srivastava; Kristina Johnson; Cristan Farmer; Tess Levy; Audrey Thurm; Latha Valluripalli Soorya; Rajna Filip-Dhima; Aisling Quinlan; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Craig M. Powell; Joseph D. Buxbaum; Mustafa Sahin; Alexander Kolevzon – American Journal on Intellectual and Developmental Disabilities, 2025
Phelan-McDermid syndrome (PMS), caused by "SHANK3" haploinsufficiency, lacks natural history data. We report the trajectory of adaptive behavior from a prospective, longitudinal, natural history study. English-speaking people aged 3-21 years with a PMS molecular diagnosis were followed over 2 years. We analyzed longitudinal Vineland…
Descriptors: Genetic Disorders, Children, Adolescents, Young Adults
