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Direct linkCristan Farmer; Ivy Giserman-Kiss; Ellora Mohanty; Latha Valluripalli Soorya; Mustafa Sahin; Alexander Kolevzon; Joseph D. Buxbaum; Elizabeth Berry-Kravis; Craig M. Powell; Jonathan A. Bernstein; Audrey Thurm – American Journal on Intellectual and Developmental Disabilities, 2025
Phelan-McDermid syndrome (PMS) is a genetic condition associated with profound neurodevelopmental disabilities. This study described patterns of onset and loss of developmental milestones and associated skills using questionnaire data from the PMS International Registry (N = 374) and clinician-led assessment data from the Developmental…
Descriptors: Genetic Disorders, Severe Disabilities, Neurodevelopmental Disorders, Skill Development
Breanne J. Byiers; Alyssa M. Merbler; Chantel C. Burkitt; Frank J. Symons – American Journal on Intellectual and Developmental Disabilities, 2025
Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times…
Descriptors: Sleep, Neurodevelopmental Disorders, Psychomotor Skills, Genetic Disorders
Ridley, Ellen; Arnott, Bronia; Riby, Deborah M.; Burt, D. Michael; Hanley, Mary; Leekam, Susan R. – American Journal on Intellectual and Developmental Disabilities, 2022
Past research shows that individuals with Williams syndrome (WS) have heightened and prolonged eye contact. Using parent report measures, we examined not only the presence of eye contact but also its qualitative features. Study 1 included individuals with WS (n = 22, ages 6.0-36.3). Study 2 included children with different neurodevelopmental (ND)…
Descriptors: Eye Movements, Congenital Impairments, Neurodevelopmental Disorders, Autism Spectrum Disorders
