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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
Carolina Baeza-Velasco; Judith Vergne; Marianna Poli; Larissa Kalisch; Raffaella Calati – Autism: The International Journal of Research and Practice, 2025
Increasing research suggests a link between autism spectrum disorders and joint hypermobility, hypermobility spectrum disorders, and Ehlers-Danlos syndromes. However, no study systematically examined the available literature about the relationship between these conditions. A systematic literature search was conducted to identify studies (a)…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Human Body, Psychomotor Skills
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
Elisabeth F. Callen; Tarin L. Clay; Wendy Cogan; William R. Black; Jordan T. Jones; Natabhona Mabachi – Health Education & Behavior, 2025
While 10% of the U.S. population are afflicted with a rare disease, patients with a rare disease can have a difficult time finding a provider or useful information. Patients with rare diseases are often frustrated by lack of knowledge from their provider, lack of satisfaction with their provider, and lack of available time with their provider.…
Descriptors: Genetic Disorders, Social Support Groups, Social Networks, Interaction
Caitlin N. Harrington; Ana Morales; Jonathan A. Bernstein; Laurel Calderwood – Journal of Autism and Developmental Disorders, 2025
A minority of patients with autism spectrum disorder (ASD) are offered genetic testing by their providers or referred for genetics evaluation despite published guidelines and consensus statements supporting genetics-informed care for this population. This study aimed to investigate the ordering habits of providers of different specialties and to…
Descriptors: Patients, Autism Spectrum Disorders, Genetic Disorders, Screening Tests
Cristan 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
Uchenna Ezedinma; Evan Jones; Alexander Ring; Spencer Miller; Andrew Ladhams; Shauna Fjaagesund; Terri Downer; Gary Campbell; Florin Oprescu – Autism: The International Journal of Research and Practice, 2025
Anecdotal reports link a distinct, bilateral, parieto-temporally generated 4.5-Hz rhythm on an electroencephalogram to a methylenetetrahydrofolate reductase gene variant co-occurring in autism spectrum disorder, but the validation of its precision is needed. The electroencephalograms of children with autism spectrum disorder showing the distinct…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Children, Preadolescents
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
Melissa Schieble; David J. Connor – Research in the Teaching of English, 2025
This project is an interdisciplinary endeavor to connect research in the teaching of English with Critical Disability Studies, an intersection that is crucial to disrupting ableism and creating more liberatory schooling and societal contexts that embrace broader notions of human differences. Invoking critical content analysis of five young adult…
Descriptors: Attitudes toward Disabilities, Social Bias, Genetic Disorders, English Instruction
Ane Perosanz; Oscar Martínez; Néstor Roselli; Paula Pérez-Núñez; Samuel Anguiano; Juan Francisco López-Paz – American Journal on Intellectual and Developmental Disabilities, 2025
The present study is a systematic review of intervention programs designed to improve the socioemotional skills of children and adolescents with Prader-Willi syndrome (PWS). The search was conducted in the Web of Science and Pubmed databases following the PRISMA guidelines. A total of six studies made up the final sample and were organized based…
Descriptors: Genetic Disorders, Intervention, Interpersonal Competence, Emotional Response
Masahiro Hirai; Ayaka Ikeda; Takeo Kato; Takahiro Ikeda; Kosuke Asada; Yoko Hakuno; Kanae Matsushima; Tomonari Awaya; Shin Okazaki; Toshihiro Kato; Toshio Heike; Masatoshi Hagiwara; Takanori Yamagata; Kiyotaka Tomiwa; Ryo Kimura – Journal of Autism and Developmental Disorders, 2025
Purpose: With the current study, we aimed to reveal the similarities and differences in sensory profiles between Williams syndrome (WS) and autism spectrum disorder. Methods: Using the sensory profile questionnaire completed by the caregivers, we analyzed the WS (n = 60, 3.4-19.8 years) and autistic (n = 39, 4.2-14.0 years) groups. Results: The…
Descriptors: Sensory Experience, Profiles, Autism Spectrum Disorders, Genetic Disorders
Melissa Raspa; Angela Gwaltney; Carla Bann; Jana von Hehn; Timothy A. Benke; Eric D. Marsh; Sarika U. Peters; Amitha Ananth; Alan K. Percy; Jeffrey L. Neul – Journal of Autism and Developmental Disorders, 2025
Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver…
Descriptors: Neurodevelopmental Disorders, Genetic Disorders, Females, Test Validity
Amrita Minhas; Kerri Whitlock; Cory Rosenfelt; Julie Shatto; Brittany Finlay; Jennifer Zwicker; Sarah Lippe; Sebastien Jacquemont; Randi Hagerman; Kara Murias; Francois V. Bolduc – Journal of Autism and Developmental Disorders, 2025
The purpose of this paper was to examine the physical, emotional, social and school functioning domains of quality of life of individuals with Fragile X Syndrome, in relation to mental health and sleep patterns to gain a better understanding of how these aspects are affected by the disorder. This study included 119 individuals with Fragile X…
Descriptors: Genetic Disorders, Mental Health, Sleep, Symptoms (Individual Disorders)
Fouad A. Alshaban; Mohammad Aldosari; Iman Ghazal; Hawraa Al-Shammari; Saba ElHag; I. Richard Thompson; Jennifer Bruder; Hibah Shaath; Fatema Al-Faraj; Mohamed Tolefat; Assal Nasir; Eric Fombonne – Journal of Autism and Developmental Disorders, 2025
Purpose: Genetic and environmental risk factors associated with Autism Spectrum Disorders (ASD) continue to be a focus of research worldwide. Consanguinity, the cultural practice of marrying within a family, is common in cultures and societies of the Middle East, North Africa and parts of Asia. Consanguinity has been investigated as a risk factor…
Descriptors: Risk, Symptoms (Individual Disorders), Autism Spectrum Disorders, Environmental Influences
Carla A. Wall; Frederick Shic; Elizabeth A. Will; Quan Wang; Jane E. Roberts – Journal of Autism and Developmental Disorders, 2025
Purpose: Fragile X syndrome (FXS) is a single-gene disorder characterized by moderate to severe cognitive impairment and a high association with autism spectrum disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD). Atypical visual attention is a feature of FXS, ASD, and ADHD. Thus, studying early attentional patterns in young…
Descriptors: Genetic Disorders, Autism Spectrum Disorders, Attention Deficit Hyperactivity Disorder, Symptoms (Individual Disorders)
