Publication Date
| In 2026 | 0 |
| Since 2025 | 3 |
| Since 2022 (last 5 years) | 13 |
| Since 2017 (last 10 years) | 41 |
| Since 2007 (last 20 years) | 48 |
Descriptor
| Children | 48 |
| Genetic Disorders | 48 |
| Intellectual Disability | 48 |
| Adolescents | 11 |
| Autism | 11 |
| Age Differences | 9 |
| Behavior Problems | 9 |
| Comparative Analysis | 8 |
| Congenital Impairments | 8 |
| Parent Attitudes | 8 |
| Pervasive Developmental… | 8 |
| More ▼ | |
Source
Author
| Awan, Fazli Rabbi | 2 |
| Ayesha, Hina | 2 |
| Haebig, Eileen | 2 |
| Karmiloff-Smith, Annette | 2 |
| Khan, Haq Nawaz | 2 |
| Oliver, Chris | 2 |
| Roberts, Jane E. | 2 |
| Sterling, Audra | 2 |
| Van Herwegen, Jo | 2 |
| Warren, Steven F. | 2 |
| Wasim, Muhammad | 2 |
| More ▼ | |
Publication Type
| Journal Articles | 48 |
| Reports - Research | 45 |
| Reports - Descriptive | 2 |
| Information Analyses | 1 |
Education Level
| Adult Education | 1 |
Audience
Location
| Pakistan | 2 |
| Belgium | 1 |
| Italy (Milan) | 1 |
| Mexico | 1 |
| Spain | 1 |
| United States | 1 |
Laws, Policies, & Programs
Assessments and Surveys
What Works Clearinghouse Rating
Peer reviewed
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
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
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
Robert Klitzman; Ekaterina Bezborodko; Wendy K. Chung; Paul S. Appelbaum – Journal of Autism and Developmental Disorders, 2025
To assess whether genetic test results identifying the cause of a child's autism, when accompanied by other neurodevelopmental disorders (NDD), including intellectual disability, alter how parents perceive and treat their child. 28 parents of 22 individuals with autism (mean age: 15 years), usually with other NDDs, were interviewed after receiving…
Descriptors: Genetic Disorders, Screening Tests, Autism Spectrum Disorders, Neurodevelopmental Disorders
Wasim, Muhammad; Khan, Haq Nawaz; Ayesha, Hina; Tawab, Abdul; Habib, Fazal e; Asi, Muhammad Rafique; Iqbal, Mazhar; Awan, Fazli Rabbi – International Journal of Developmental Disabilities, 2022
Objectives: Aminoacidopathies are inborn errors of metabolism (IEMs) that cause intellectual disability in children. Luckily, aminoacidopathies are potentially treatable, if diagnosed earlier in life. The focus of this study was the screening of aminoacidopathies in a cohort of patients suspected for IEMs. Methods: Blood samples from healthy (IQ…
Descriptors: Metabolism, Intellectual Disability, Screening Tests, Children
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
Walter E. Kaufmann; Melissa Raspa; Carla M. Bann; Julia M. Gable; Holly K. Harris; Dejan B. Budimirovic; Reymundo Lozano – Journal of Autism and Developmental Disorders, 2024
Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes…
Descriptors: Symptoms (Individual Disorders), Children, Genetic Disorders, Intellectual Disability
Caitlin Gray; Helen Leonard; Kingsley Wong; Sally Reed; Kate Schmidt; Rachel Skoss; Jianghong Li; Alison Salt; Jenny Bourke; Emma J. Glasson – Journal of Intellectual & Developmental Disability, 2024
Background: Siblings of children with intellectual disability have unique family experiences, varying by type of disability. Methods: Parents of children with Down syndrome (156) or with Rett syndrome (149) completed questionnaires relating to sibling advantages and disadvantages, experiences of holidays and recreation, and perceived availability…
Descriptors: Intellectual Disability, Children, Genetic Disorders, Siblings
Bolbocean, Corneliu; Andújar, Fabiola N.; McCormack, Maria; Suter, Bernhard; Holder, J. Lloyd, Jr. – Journal of Autism and Developmental Disorders, 2022
Children with autism have a significantly lower quality of life compared with their neurotypical peers. While multiple studies have quantified the impact of autism on health-related quality of life (HRQoL) through standardized surveys such as the PedsQL, none have specifically investigated the impact of syndromic autism. Here we evaluate HRQoL in…
Descriptors: Children, Autism, Pervasive Developmental Disorders, Quality of Life
Kelleher, Bridgette; Halligan, Taylor; Garwood, Tessa; Howell, Samantha; Martin-O'Dell, Breanna; Swint, Amber; Shelton, Liberty-Ann; Shin, Joey – Journal of Autism and Developmental Disorders, 2020
It is well-recognized that measurement options for diagnosing and monitoring children with neurogenetic syndromes (NGS) associated with moderate to severe intellectual impairment are limited (Berry-Kravis, Dev Med Child Neurol 10.1111/dmcn.13018, 2016), and caregivers experience significant concerns regarding the assessment process. However to…
Descriptors: Clinical Diagnosis, Neurological Impairments, Genetic Disorders, Intellectual Disability
Coleman, Jeanine; Thompson, Talia; Riley, Karen; Allen, Korrie; Michalak, Claire; Shields, Rebecca; Berry-Kravis, Elizabeth; Hessl, David – Journal of Applied Research in Intellectual Disabilities, 2023
Background: Parenting children and young adults with intellectual disabilities, including individuals with fragile X syndrome and Down syndrome, is challenging, joyful, and complicated. Exploring how parents talk about their children, and the quality of the parent/child relationship can provide insight into the home environment and interactional…
Descriptors: Genetic Disorders, Intellectual Disability, Congenital Impairments, Parents
Srivastava, Siddharth; Clark, Bennett; Landy-Schmitt, Colleen; Offermann, Elizabeth A.; Kline, Antonie D.; Wilkinson, Samuel T.; Grados, Marco A. – Journal of Autism and Developmental Disorders, 2021
Cornelia de Lange syndrome (CdLS) is associated with repetitive and self-injurious behaviors (RBs, SIB). Evaluating children with CdLS, this study: (1) characterizes the spectrum of RBs; (2) characterizes the impact and severity of RBs including SIB; (3) describes how age and adaptive functioning relate to RBs including SIB. Fifty children…
Descriptors: Behavior Problems, Self Destructive Behavior, Genetic Disorders, Intellectual Disability
Schladant, Michelle; Dowling, Monica – Intellectual and Developmental Disabilities, 2020
Many children with fragile X syndrome (FXS) have complex communication needs and may benefit from augmentative and alternative communication (AAC). This qualitative study explored how four mother--child dyads used AAC in the home. Data were collected using participant observations, open-ended interviews, and record reviews, and analyzed using…
Descriptors: Parent Attitudes, Genetic Disorders, Intellectual Disability, Children
Márquez-Caraveo, María Elena; Ibarra-González, Isabel; Rodríguez-Valentín, Rocío; Ramírez-García, Miguel Ángel; Pérez-Barrón, Verónica; Lazcano-Ponce, Eduardo; Vela-Amieva, Marcela – Journal of Autism and Developmental Disorders, 2021
The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect…
Descriptors: Foreign Countries, Mexicans, Clinical Diagnosis, Genetic Disorders
