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Direct linkBegoña Medina-Gómez; Gloria Pérez de Albéniz-Garrote – International Journal of Disability, Development and Education, 2025
This study assesses adaptive and maladaptive behaviour in a sample of 68 adults. The Spanish version of the Adaptive Behaviour Scale: Residence and Community (ABS-RC:2) was applied to 30 subjects with Fragile X Syndrome (FXS) and 38 subjects with Down Syndrome (DS) aged between 25 and 57. The results show that adults with FXS score higher than do…
Descriptors: Behavior Problems, Adults, Down Syndrome, Genetic Disorders
Siddharth 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
E. K. Baker; T. W. Frazier; J. M. Phillips; A. Y. Hardan; M. Uljarevic – Journal of Autism and Developmental Disorders, 2025
Purpose: Sleep problems are common in neurodevelopmental genetic disorders (NGD), with impacts on daytime functioning amplified in these individuals. However, despite their prevalence and clinical impact, correlates of sleep difficulties in this group remain poorly characterized. This study used a large cohort of individuals with several rare NGDs…
Descriptors: Neurodevelopmental Disorders, Genetic Disorders, Sleep, Predictor Variables
Agustina Sabino Romagnoli; Letícia Nunes Campos; Daniel Fernandez-Guzman; Sofia Wagemaker; Federico Fernandez Zelcer; Carlos Stegmann; Carina F. Argüelles; Laura F. Sosa; Ayla Gerk; Jorgelina Stegmann – Journal of Applied Research in Intellectual Disabilities, 2025
Background: Mucopolysaccharidosis type III (MPS III) is a rare lysosomal storage disease with systemic complications. This scoping review aimed to synthesise evidence regarding methods to diagnose and monitor MPS III. Methods: We searched 10 databases for English and Spanish citations published from 2017 to 2022. Our study focused on human-based…
Descriptors: Clinical Diagnosis, Patients, Genetic Disorders, Diseases
Madeleine Rawlinson; Susana Castro-Kemp – Journal of Research in Special Educational Needs, 2025
There is an abundance of literature on health-related outcomes for children and young people with Prader-Willi syndrome and on their lived experiences as well as on their caregivers'. However, little is known about the experiences of education practitioners when providing for them. This study gathered in-depth evidence of the lived experience of…
Descriptors: Genetic Disorders, Special Education Teachers, Special Schools, Students with Disabilities
Zuhal Koc Apaydin; Meryem Kasak; Ozlem Karakaya; Hakan Ogutlu; Mustafa Ugurlu; Fiona McNicholas – Journal of Attention Disorders, 2025
Objective: This study aimed to investigate the relationship between Cognitive Disengagement Syndrome (CDS) symptoms in children/adolescents and their parents within the Turkish population, examining the association with co-occurring ADHD symptoms, peer/social relationships, and total difficulties. Method: The study included 229 parents aged 18 to…
Descriptors: Children, Adolescents, Parents, Symptoms (Individual Disorders)
