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Direct linkMaría Galán-Olleros; Elena González-Alguacil; Víctor Soto-Insuga; María Teresa Vara-Arias; Nelmar Valentina Ortiz-Cabrera; J. Ignacio Serrano; Rosa M. Egea-Gámez; Juan José García-Peñas; Ignacio Martínez-Caballero; Salvadora Aleza Esteras; Carlota Aparicio Fernández de Gatta; Elvira Cañedo Villarroya; Daniel Clemente Garulo; Rocío Falcón Roca; Silvia Gutiérrez Priego; Blanca López Monedero; Paula Moreno Gutiérrez; Miriam Martín Mangas; Francisca Romero Andujar; Amalia Tamariz Martel – Journal of Autism and Developmental Disorders, 2025
Purpose: Rett syndrome (RTT) is a rare multi-systemic disorder primarily linked to mutations in "MECP2" gene. This study aims to describe the prevalence of orthopedic conditions in RTT patients, and examine their intricate interplay with functional capabilities, and "MECP2" variant subtypes. Methods: Conducted as a…
Descriptors: Genetic Disorders, Intellectual Disability, Physical Disabilities, Patients
Tess Levy; Cristan Farmer; Siddharth Srivastava; Kristina Johnson; Jadyn Trayvick; Camille Brune; Alexandra Massa; Hailey Silver; Paige M. Siper; Jessica Zweifach; Danielle Halpern; Jennifer H. Foss-Feig; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Craig M. Powell; Mustafa Sahin; Latha Valluripalli Soorya; Audrey Thurm; Joseph D. Buxbaum; Alexander Kolevzon – American Journal on Intellectual and Developmental Disabilities, 2025
The clinical spectrum of Phelan-McDermid syndrome (PMS) is varied, with wide-ranging degrees of intellectual disability, developmental delays, behavioral abnormalities, and medical features. Different types of genetic variation lead to PMS, and differing genotypes (e.g., size of deletion or type of variant) account for some of this variability,…
Descriptors: Genetics, Genetic Disorders, Intellectual Disability, Developmental Delays
María-Pilar López-Garrido; María-Carmen Carrascosa-Romero; Minerva Montero-Hernández; Jesús Ruiz-Almansa; Francisco Sánchez-Sánchez – Journal of Autism and Developmental Disorders, 2024
"ATRX" mutations are commonly associated with alpha-thalassaemia mental retardation syndrome (ATR-X syndrome) with a notable variable expressivity. This X-linked disorder is characterized by intellectual disability (ID) in a higher or lesser degree, in which the alpha-thalassaemia feature is not always present. Other phenotypic…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Symptoms (Individual Disorders), Intellectual Disability
Meghana Wadnerkar Kamble; Jen Dawe; Karen Bunning – Journal of Applied Research in Intellectual Disabilities, 2025
Background: There is limited evidence exploring sibling's perspective in Prader-Willi syndrome research. Objectives: To investigate the experiences and support needs of the siblings of individuals with Prader-Willi syndrome. Methods: This two-stage qualitative study involved siblings aged 11 years onwards (n = 11) and parents (n = 8). Stage 1…
Descriptors: Genetic Disorders, Intellectual Disability, Siblings, Parents
Anastasia Dimitropoulos; Ellen A. Doernberg; Rachel A. Gordon; Kerrigan Vargo; Evelyn Nichols; Sandra W. Russ – American Journal on Intellectual and Developmental Disabilities, 2024
The current study examines the efficacy of an 8-week pretend play intervention targeting social-cognitive abilities in children with Prader-Willi syndrome (PWS), ages 6-9. PWS is a rare disorder associated with various social, emotional, and cognitive challenges linked to pretend play impairments, and for which interventions are sparse. Nineteen…
Descriptors: Genetic Disorders, Developmental Disabilities, Obesity, Intellectual Disability
Freya Elise; Brian Irvine; Jana Brinkert; Charlie Hamilton; Emily K. Farran; Elizabeth Milne; Gaia Scerif; Anna Remington – Journal of Applied Research in Intellectual Disabilities, 2025
Background: Autistic people without intellectual disabilities have increased perceptual capacity: they can process more information at any given time compared to non-autistic people. We examined whether increased perceptual capacity is evident across the autistic spectrum (i.e. for autistic people with intellectual disabilities) and whether it is…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Adults, Intellectual Disability
Monteiro, Rebeca Orselli; Tafla, Tally Lichtensztejn; Rodriguez, Juliana Dalla Martha; Teixeira, Sabine Triguero; Honjo, Rachel Sayuri; Kim, Chong Ae; Teixeira, Maria Cristina Triguero Veloz – Journal of Applied Research in Intellectual Disabilities, 2023
Background: The affective expression of sexual behaviour in individuals with Williams syndrome can lead to risky behaviours, especially if parents do not have information on how to provide sex education or support from specialised professionals. Method: The Attitudes to Sexuality Questionnaire for Individuals with Intellectual Disabilities was…
Descriptors: Sexuality, Genetic Disorders, Intellectual Disability, Parent Attitudes
Saldarriaga, Wilmar; González-Teshima, Laura Yuriko; Forero-Forero, Jose Vicente; Tang, Hiu-Tung; Tassone, Flora – Journal of Intellectual Disabilities, 2022
Fragile X syndrome (FXS) has a classic phenotype, however its expression can be variable among full mutation males. This is secondary to variable methylation mosaicisms and the number of CGG triplet repeats in the non-coding region of the Fragile X Mental Retardation 1 ("FMR1") gene, producing a variable expression of the Fragile X…
Descriptors: Genetic Disorders, Heredity, Symptoms (Individual Disorders), Intellectual Disability
Cristan Farmer; Audrey Thurm; Tanvi Das; E. Martina Bebin; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Joseph D. Buxbaum; Charis Eng; Thomas Frazier; Antonio Y. Hardan; Alexander Kolevzon; Darcy A. Krueger; Julian A. Martinez-Agosto; Hope Northrup; Craig M. Powell; Latha Valluripalli Soorya; Joyce Y. Wu; Mustafa Sahin – American Journal on Intellectual and Developmental Disabilities, 2025
Developmental domains, such as cognitive, language, and motor, are key concepts of interest in longitudinal studies of intellectual and developmental disabilities (IDD). Normative scores (e.g., IQ) are often used to operationalize performance on standardized tests of these concepts, but it is the interval-distributed person-ability scores that are…
Descriptors: Cognitive Tests, Intelligence Tests, Cognitive Ability, Intellectual Disability
Latha Valluripalli Soorya; Camille W. Brune; Cristan A. Farmer; Edith V. Ocampo; Natalie I. Berger; Deborah A. Pearson; Robyn M. Busch; Patricia Klaas; Paige Siper; Kristn Currans; Amanda C. Gulsrud; Jennifer M. Phillips; Rajna Filip-Dhima; Sarah E. O’Kelley; Thomas W. Frazier; Tess Levy; Allison L. Wainer; Joseph D. Buxbaum; Craig M. Powell; Jonathan A. Bernstein; Simon K. Warfield; Darcy A. Krueger; E. Martina Bebin; Hope Northrup; Shafali S. Jeste; Alexander Kolevzon; Elizabeth Berry-Kravis; Mustafa Sahin; Siddharth Srivastava; Audrey Thurm – American Journal on Intellectual and Developmental Disabilities, 2025
The Developmental Synaptopathies Consortium is a multisite natural history network studying rare, neurogenetic syndromes associated with synaptic dysfunction and developmental delays. One aim of the Consortium is clinical trial readiness, including identifying clinical concepts and validating their measurement. We evaluated the scope and…
Descriptors: Intellectual Disability, Genetic Disorders, Neurological Impairments, Measurement Techniques
Huston, John C.; Thom, Robyn P.; Ravichandran, Caitlin T.; Mullett, Jennifer E.; Moran, Carly; Waxler, Jessica L.; Pober, Barbara R.; McDougle, Christopher J. – Journal of Autism and Developmental Disorders, 2022
The purpose of the study was to characterize repetitive phenomena in Williams syndrome (WS). The parents of 60 subjects with WS completed the Yale-Brown Obsessive Compulsive Scale (Y-BOCS) or Children's Y-BOCS, the Yale Global Tic Severity Scale, the Stereotyped Behavior Scale, and the Spence Children's Anxiety Scale--Parent Version. Nineteen…
Descriptors: Genetic Disorders, Intellectual Disability, Congenital Impairments, Repetition
Qian, Yanyan; Zhou, Yuanfeng; Wu, Bingbing; Chen, Huiyao; Xu, Suzhen; Wang, Yao; Zhang, Ping; Li, Gang; Xu, Qiong; Zhou, Wenhao; Xu, Xiu; Wang, Huijun – Journal of Autism and Developmental Disorders, 2022
Autism spectrum disorders (ASDs) are a group of neurodevelopmental-related disorders with a high genetic risk. Recently, chromatin remodeling factors have been found to be related to ASDs. "SMARCA4" is such a catalytic subunit of the chromatin-remodeling complex. In this report, we identified seven novel missense variants in the…
Descriptors: Autism Spectrum Disorders, Children, Genetics, Intellectual Disability
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
Kirsten Johnson; Andrew C. Stanfield; Gaia Scerif; Andrew McKechanie; Angus Clarke; Jonathan Herring; Kayla Smith; Hayley Crawford – Journal of Applied Research in Intellectual Disabilities, 2024
Background: The Fragile X community has expressed a desire for centralised, national guidelines in the form of integrated guidance for Fragile X Syndrome (FXS). Methods: This article draws on existing literature reviews, primary research and clinical trials on FXS, a Fragile X Society conference workshop and first-hand experience of clinicians who…
Descriptors: Holistic Approach, Guides, National Standards, Genetic Disorders
Berry-Kravis, Elizabeth – American Journal on Intellectual and Developmental Disabilities, 2022
Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic…
Descriptors: Genetic Disorders, Intellectual Disability, Autism, Pervasive Developmental Disorders
