NotesFAQContact Us
Collection
Advanced
Search Tips
Showing 1 to 15 of 46 results Save | Export
Orthopedic Conditions and Interplay with Functional Abilities and "MECP2" Variant Subtype in Rett Syndrome Patients
Peer reviewed Peer reviewed
Direct linkDirect link
María 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
Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in "ATRX" Gene--A Case Report
Peer reviewed Peer reviewed
Direct linkDirect link
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
Repetitive Thoughts and Repetitive Behaviors in Williams Syndrome
Peer reviewed Peer reviewed
Direct linkDirect link
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
Novel Variants of the "SMARCA4" Gene Associated with Autistic Features Rather than Typical Coffin-Siris Syndrome in Eight Chinese Pediatric Patients
Peer reviewed Peer reviewed
Direct linkDirect link
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
Impact of Receiving Genetic Diagnoses on Parents' Perceptions of Their Children with Autism and Intellectual Disability
Peer reviewed Peer reviewed
Direct linkDirect link
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
Social and Emotional Characteristics of Girls and Young Women with DDX[subscript 3]X-Associated Intellectual Disability: A Descriptive and Comparative Study
Peer reviewed Peer reviewed
Direct linkDirect link
Ng-Cordell, Elise; Kolesnik-Taylor, Anna; O'Brien, Sinéad; Astle, Duncan; Scerif, Gaia; Baker, Kate – Journal of Autism and Developmental Disorders, 2023
"DDX[subscript 3]X" variants are a common cause of intellectual disability (ID) in females, and have been associated with autism spectrum disorder and emotional-behavioural difficulties. In this study, we compared phenotypic data for 23 females with "DDX[subscript 3]X" variants, to 23 females with ID and other genetic…
Descriptors: Individual Characteristics, Social Development, Emotional Development, Females
Skin Picking in People with Prader-Willi Syndrome: Phenomenology and Management
Peer reviewed Peer reviewed
Direct linkDirect link
Bull, L. E.; Oliver, C.; Woodcock, K. A. – Journal of Autism and Developmental Disorders, 2021
Skin picking is highly prevalent in people with Prader-Willi syndrome (PWS). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. type of skin picked, apparent motivations, or management strategies) of skin picking to inform intervention strategies. Nineteen parents/carers who observe skin picking shown by the…
Descriptors: Genetic Disorders, Intellectual Disability, Self Destructive Behavior, Incidence
Empathy and Anxiety in Young Girls with Fragile X Syndrome
Peer reviewed Peer reviewed
Direct linkDirect link
Miller, Jonas G.; Bartholomay, Kristi L.; Lee, Cindy H.; Bruno, Jennifer L.; Lightbody, Amy A.; Reiss, Allan L. – Journal of Autism and Developmental Disorders, 2022
We tested whether empathy is impaired and associated with anxiety in girls with fragile X syndrome (FXS). We measured parent-reported empathy and self-reported anxiety in young girls with FXS and in a developmentally-matched comparison group. Girls with FXS received higher parent-reported scores on cognitive and affective empathy but also…
Descriptors: Empathy, Females, Genetic Disorders, Intellectual Disability
Brief Report: Linguistic Mazes and Perseverations in School-Age Boys with Fragile X Syndrome and Autism Spectrum Disorder and Relationships with Maternal Maze Use
Peer reviewed Peer reviewed
Direct linkDirect link
Maltman, Nell; Friedman, Laura; Lorang, Emily; Sterling, Audra – Journal of Autism and Developmental Disorders, 2022
Autism spectrum disorder (ASD) and fragile X syndrome (FXS) are neurodevelopmental disorders with overlapping pragmatic language impairments. Prior work suggests pragmatic language differences may run in families. This study examined specific pragmatic difficulties (i.e., linguistic mazes and perseverations) in boys (9-18 years) with idiopathic…
Descriptors: Males, Genetic Disorders, Intellectual Disability, Autism
Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome
Peer reviewed Peer reviewed
Direct linkDirect link
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
Screening for Fragile X Syndrome among Filipino Children with Autism Spectrum Disorder
Peer reviewed Peer reviewed
Direct linkDirect link
Dy, Angel Belle C.; Tanchanco, Lourdes Bernadette S.; Sy, Jenica Clarisse Y.; Levantino, Myla Dominicina; Hagerman, Randi J. – Journal of Autism and Developmental Disorders, 2023
Individuals with autism spectrum disorder present with difficulties in social communication, restricted interests or behaviors and other co-morbidities. About 2 to 10% of cases of autism have a genetic cause, and Fragile X Syndrome (FXS) is reported in 0 to 6.5% of individuals with autism. However, the FXS and premutation prevalence among Filipino…
Descriptors: Young Children, Genetic Disorders, Congenital Impairments, Intellectual Disability
Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and Their Caregivers
Peer reviewed Peer reviewed
Direct linkDirect link
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
Restricted and Repetitive Behaviors in Males and Females with Fragile X Syndrome: Developmental Trajectories in Toddlers through Young Adults
Peer reviewed Peer reviewed
Direct linkDirect link
Moskowitz, Lauren J.; Will, Elizabeth A.; Black, Conner J.; Roberts, Jane E. – Journal of Autism and Developmental Disorders, 2020
There is limited research on the trajectory of restricted and repetitive behaviors (RRBs) in fragile X syndrome (FXS), with previous studies only examining males and/or examining RRBs as a unitary construct rather than delineating subtypes of RRBs. Thus, we described the trajectory of five subtypes of RRBs in 153 males and females with FXS (aged…
Descriptors: Behavior Problems, Genetic Disorders, Intellectual Disability, Congenital Impairments
A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes
Peer reviewed Peer reviewed
Direct linkDirect link
Crawford, Hayley; Moss, Joanna; Groves, Laura; Dowlen, Robyn; Nelson, Lisa; Reid, Donna; Oliver, Chris – Journal of Autism and Developmental Disorders, 2020
Unique socio-behavioural phenotypes are reported for individuals with different neurodevelopmental disorders. Here, the effects of adult familiarity and nature of interaction on social anxiety and social motivation were investigated in individuals with fragile X (FXS; n = 20), Cornelia de Lange (CdLS; n = 20) and Rubinstein-Taybi (RTS; n = 20)…
Descriptors: Genetic Disorders, Intellectual Disability, Anxiety, Motivation
Brief Report: Assessment Experiences of Children with Neurogenetic Syndromes: Caregivers' Perceptions and Suggestions for Improvement
Peer reviewed Peer reviewed
Direct linkDirect link
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
Previous Page | Next Page »
Pages: 1  |  2  |  3  |  4