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Direct linkAnastasia 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
Christine Brennan; Mara Louise Smith; Rachael R. Baiduc; Liam O'Connor – Journal of Speech, Language, and Hearing Research, 2024
Purpose: Smith-Magenis syndrome (SMS), a rare, genetically linked complex developmental disorder caused by a deletion or mutation within chromosome 17p11.2, is associated with delays in speech-language development, otopathology, and hearing loss, yet previous studies lack comprehensive descriptions of hearing and communication profiles. Here,…
Descriptors: Genetic Disorders, Developmental Disabilities, Delayed Speech, Speech Skills
Sadhwani, Anjali; Wheeler, Anne; Gwaltney, Angela; Peters, Sarika U.; Barbieri-Welge, Rene L.; Horowitz, Lucia T.; Noll, Lisa M.; Hundley, Rachel J.; Bird, Lynne M.; Tan, Wen-Hann – Journal of Autism and Developmental Disorders, 2023
We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age…
Descriptors: Child Development, Developmental Disabilities, Psychomotor Skills, Infants
Lauren Schwartz; Caroline J. Vrana-Diaz; Jessica E. Bohonowych; Lisa Matesevac; Theresa V. Strong – Journal of Applied Research in Intellectual Disabilities, 2025
Background: Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder with symptoms that impact health and quality of life (QOL). There is limited data on global health, QOL and the relationship with mood in individuals with PWS. Methods: Parents completed three validated assessments, the Glasgow Depression Scale-Carer Supplement (GDS-CS),…
Descriptors: Life Satisfaction, Health, Psychological Patterns, Genetic Disorders
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
Lisa R. Hamrick; Amanda Seidl; Bridgette L. Kelleher – American Journal on Intellectual and Developmental Disabilities, 2023
Automated methods for processing of daylong audio recordings are efficient and may be an effective way of assessing developmental stage for typically developing children; however, their utility for children with developmental disabilities may be limited by constraints of algorithms and the scope of variables produced. Here, we present a novel…
Descriptors: Genetic Disorders, Developmental Disabilities, Child Development, Verbal Communication
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
Katrin D. Bartl-Pokorny; Florian B. Pokorny; Dunia Garrido; Björn W. Schuller; Dajie Zhang; Peter B. Marschik – Journal of Developmental and Physical Disabilities, 2022
Rett syndrome (RTT) is a rare, late detected developmental disorder associated with severe deficits in the speech-language domain. Despite a few reports about atypicalities in the speech-language development of infants and toddlers with RTT, a detailed analysis of the pre-linguistic vocalisation repertoire of infants with RTT is yet missing. Based…
Descriptors: Genetic Disorders, Developmental Disabilities, Infants, Speech Impairments
Wilkinson, Ellen H.; Britton, Tobias C.; Hall, Scott S. – American Journal on Intellectual and Developmental Disabilities, 2022
We examined potential phenotypic differences in eye gaze avoidance exhibited by boys with autism spectrum disorder (ASD) and boys with fragile X syndrome (FXS). In Study 1, the Eye Contact Avoidance Scale (ECAS) was administered to caregivers of boys aged 7-18 years with FXS (n = 148), ASD (n = 168), and mixed developmental disabilities (MDD; n =…
Descriptors: Autism Spectrum Disorders, Genetic Disorders, Eye Movements, Males
Fabrizio Stasolla; Alessandro O. Caffò; Donatella Ciarmoli; Vincenza Albano – Journal of Developmental and Physical Disabilities, 2021
We further extended the use of a microswitch-cluster technology to promote object manipulation and to reduce tongue protrusion in seven children with Angelman syndrome. Study I included seven participants with severe to profound developmental disabilities. An ABB[superscript 1]AB[superscript 1] experimental sequence was implemented. During the…
Descriptors: Genetic Disorders, Developmental Disabilities, Severe Disabilities, Assistive Technology
Gandhi, Anusha; Zhou, Dihong; Alaimo, Joseph; Chon, Edwin; Fountain, Michael D.; Elsea, Sarah H. – Journal of Autism and Developmental Disorders, 2021
Caregivers of preschool and elementary school age children with Smith-Magenis syndrome (SMS), MBD5-associated neurodevelopmental disorder (MAND), and Pitt-Hopkins syndrome (PTHS) were surveyed to assess sleep disturbance and to identify disorder-specific sleep problems. Because of overlapping features of these rare genetic neurodevelopmental…
Descriptors: Sleep, Behavior Problems, Genetic Disorders, Neurological Impairments
Rombouts, Ellen; Leenen, Liesl; Maes, Bea; Zink, Inge – International Journal of Language & Communication Disorders, 2023
Background: Individuals with developmental language disorder or Williams syndrome are reported to use more gestures than individuals with typical development. However, these two groups differ considerably in visuospatial and language skills, two skills that are hypothesized to shape gesture rate. Aims: We first examined whether children with both…
Descriptors: Language Impairments, Developmental Disabilities, Genetic Disorders, Nonverbal Communication
Magdalena Glod; Deborah M. Riby; Jacqui Rodgers – Review Journal of Autism and Developmental Disorders, 2020
To date, little is known about sensory processing in Williams syndrome (WS) and the similarities of the sensory profile in individuals with WS compared to people with other neurodevelopmental disorders. The current review aims to consolidate available evidence on sensory processing in WS. Eighteen primary studies investigating sensory processing…
Descriptors: Genetic Disorders, Developmental Disabilities, Perceptual Impairments, Age Differences
Gillooly, Amanda E.; Riby, Deborah M.; Durkin, Kevin; Rhodes, Sinéad M. – Journal of Autism and Developmental Disorders, 2021
Although children with Williams syndrome (WS) are reported to show a strong motivation towards social interaction, evidence suggests many experience difficulties with peer relations. Less is known regarding the characteristics of such difficulties. Parents and teachers of 21 children with WS (7- to 16 years) completed questionnaires measuring…
Descriptors: Peer Relationship, Children, Adolescents, Parent Attitudes
Agarwal, Rumi; Maddux, Marlaina; Marolda, Heather; Quintana, Jordan; Wagner, Eric; Burke, Shanna – International Journal of Disability, Development and Education, 2022
Programmes which offer integrated services were analysed to identify model international and domestic programmes serving adults with neurodevelopmental disorders. Programmes were assessed according to 11 need domains identified in a previous study: supervision, transportation, housing, communication, finances/employment opportunities, activities…
Descriptors: Adults, Program Evaluation, Neurological Impairments, Developmental Disabilities
