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Direct linkHuston, 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
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
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
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
Valérie Côté; Inga S. Knoth; Ève Lalancette; Jade-Audrey Lavergne; Lucie Côté; Philippe Major; Sarah Lippé – Journal of Developmental and Physical Disabilities, 2021
This study investigated which specific behavioural issues is best associated with adaptive functioning in three specific genetic syndromes. Behavioural issues were assessed in neurotypical (NT) (n = 43), Tuberous sclerosis complex (TSC) (n = 19), Down syndrome (DS) (n = 24) and Fragile X syndrome (FXS) (n = 23) participants ranging from 3 to…
Descriptors: Genetic Disorders, Behavior Problems, Down Syndrome, Intellectual Disability
Mackay, Jessica; Nixon, Gillian M.; Lafferty, Antony R.; Ambler, Geoff; Kapur, Nitin; Bergman, Philip B.; Schofield, Cara; Seton, Chris; Tai, Andrew; Tham, Elaine; Vora, Komal; Crock, Patricia; Verge, Charles; Musthaffa, Yassmin; Blecher, Greg; Caudri, Daan; Leonard, Helen; Jacoby, Peter; Wilson, Andrew; Choong, Catherine S.; Downs, Jenny – Journal of Autism and Developmental Disorders, 2022
Prader-Willi syndrome (PWS) is a rare genetic disorder characterised by neurodevelopmental delays, hyperphagia, difficulties with social communication and challenging behaviours. Individuals require intensive supervision from caregivers which may negatively affect caregiver quality of life. This study used data collected in the Australasian PWS…
Descriptors: Caregivers, Genetic Disorders, Intellectual Disability, Developmental Disabilities
Fielding-Gebhardt, Heather; Warren, Steven F.; Brady, Nancy C. – Journal of Autism and Developmental Disorders, 2020
Parenting children with neurodevelopmental disabilities is often challenging. Biological mothers of children with Fragile X Syndrome (FXS) may be susceptible to increased risk of mental health problems. This study examined the longitudinal relationships between maternal mental health, child challenging behaviors, and mother-child relationship…
Descriptors: Mothers, Mental Health, Child Behavior, Behavior Problems
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
Download full textDelaquis, Breanna – BU Journal of Graduate Studies in Education, 2020
Educators will be tasked with planning for children with many different needs. The aim of this article is to provide specific information about Rubinstein-Taybi Syndrome (RTS) to those who may be interested. This syndrome is rare and has not been well researched. This article contains information about the physical, cognitive, and developmental…
Descriptors: Genetic Disorders, Students with Disabilities, Student Needs, Individual Characteristics
Nag, Heidi Elisabeth; Hoxmark, Lise Beate; Naerland, Terje – Journal of Intellectual Disabilities, 2019
The experience of having a rare disorder was summarised in a large study as 'falling outside the vast field of knowledge of the professionals'. Parents (31 mothers and 17 fathers) of 32 persons with Smith-Magenis syndrome (SMS) participated in this study. A phenomenological approach was used to analyse the data into topics and themes. Four themes…
Descriptors: Genetic Disorders, Intellectual Disability, Behavior Problems, Parents
Nash, Rebecca; Riley, Catharine; Paramsothy, Pangaja; Gilbertson, Kendra; Raspa, Melissa; Wheeler, Anne; Dziuban, Eric J.; Peacock, Georgina – American Journal on Intellectual and Developmental Disabilities, 2019
Children with fragile X syndrome (FXS) display wide-ranging intellectual and behavioral abilities that affect daily life. We describe the educational setting of students with FXS and assess the relationships between school setting, co-occurring conditions, and functional ability using a national survey sample (n = 982). The majority of students…
Descriptors: Genetic Disorders, Intellectual Disability, Behavior Problems, Individualized Education Programs
Eckert, Eleanor M.; Dominick, Kelli C.; Pedapati, Ernest V.; Wink, Logan K.; Shaffer, Rebecca C.; Andrews, Howard; Choo, Tse-Hwei; Chen, Chen; Kaufmann, Walter E.; Tartaglia, Nicole; Berry-Kravis, Elizabeth M.; Erickson, Craig A. – Journal of Autism and Developmental Disorders, 2019
Using a dataset involving 415 individuals with irritability, aggression, agitation and self-injury (IAAS) behaviors from the fragile X syndrome (FXS) FORWARD database, we describe the psychopharmacologic management of IAAS and features of the population of persons with FXS treated with drug therapy for IAAS. Among those with FXS exhibiting IAAS,…
Descriptors: Genetic Disorders, Self Destructive Behavior, Aggression, Behavior Problems
Vidovic, Katarina; Maricle, Denise E. – Communique, 2021
Noonan syndrome (NS) is a common genetic disorder that can cause a vast array of health conditions. Characteristics of NS include specific facial features as well as a higher chance of developing congenital heart disease, failure to thrive, and vision abnormalities. These deficits may manifest as behavioral and emotional difficulties, leaving…
Descriptors: Genetic Disorders, School Psychologists, Symptoms (Individual Disorders), Role
Adams, Dawn; Clarke, Samantha; Griffith, Gemma; Howlin, Pat; Moss, Jo; Petty, Jane; Tunnicliffe, Penny; Oliver, Chris – American Journal on Intellectual and Developmental Disabilities, 2018
It is well documented that mothers of children with challenging behavior (CB) experience elevated levels of stress and that this persists over time, but less is known about the experience of mothers of children with rare genetic syndromes. This article describes 2 studies, 1 cross-sectional and 1 longitudinal, comparing well-being in mothers of…
Descriptors: Mothers, Stress Variables, Genetic Disorders, Depression (Psychology)
Dryden, Mary – Communique, 2019
School psychologists are asked to provide a number of different services in schools, including evaluating and providing recommendations to educators and parents on children and adolescents with rare genetic conditions. One genetic disorder with physical, cognitive, and behavioral features is Prader-Willi syndrome (PWS). PWS is a unique genetic…
Descriptors: School Psychologists, Knowledge Level, Genetic Disorders, Children
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