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Direct linkTess 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
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
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
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
Zigler, Christina K.; Lin, Li; McFatrich, Molly; Lucas, Nicole; Gordon, Kelly L.; Jones, Harrison N.; Berent, Allyson; Panagoulias, Jennifer; Evans, Paula; Reeve, Bryce B. – American Journal on Intellectual and Developmental Disabilities, 2023
There is a critical need for high-quality clinical outcome assessments to capture the important aspects of communication ability of individuals with Angelman syndrome (AS). To center the perspective of caregivers, our team developed the novel Observer-Reported Communication Ability (ORCA) measure using best practice guidelines, with the goal of…
Descriptors: Genetic Disorders, Test Validity, Observation, Communication Skills
Waite, Jane; Beck, Sarah R.; Powis, Laurie; Oliver, Chris – American Journal on Intellectual and Developmental Disabilities, 2023
In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive…
Descriptors: Executive Function, Repetition, Behavior Problems, Genetic Disorders
Siddharth Srivastava; Kristina Johnson; Cristan Farmer; Tess Levy; Audrey Thurm; Latha Valluripalli Soorya; Rajna Filip-Dhima; Aisling Quinlan; Jonathan A. Bernstein; Elizabeth Berry-Kravis; Craig M. Powell; Joseph D. Buxbaum; Mustafa Sahin; Alexander Kolevzon – American Journal on Intellectual and Developmental Disabilities, 2025
Phelan-McDermid syndrome (PMS), caused by "SHANK3" haploinsufficiency, lacks natural history data. We report the trajectory of adaptive behavior from a prospective, longitudinal, natural history study. English-speaking people aged 3-21 years with a PMS molecular diagnosis were followed over 2 years. We analyzed longitudinal Vineland…
Descriptors: Genetic Disorders, Children, Adolescents, Young Adults
Carly Hyde; Logan Shurtz; Nicole McDonald; Maria Pizzano; Charles A. Nelson; Elizabeth A. Thiele; Connie Kasar; Shafali Jeste – American Journal on Intellectual and Developmental Disabilities, 2025
Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with…
Descriptors: Genetic Disorders, Neuropsychology, Clinical Diagnosis, Control Groups
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
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
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
Barstein, Jamie; Jeste, Shafali; Saravanapandian, Vidya; Hyde, Carly; Distefano, Charlotte – American Journal on Intellectual and Developmental Disabilities, 2021
Duplication of chromosome 15q11.2-q13.1 (dup15q syndrome) results in hypotonia, intellectual disability (ID), and autism symptomatology. Clinical electroencephalography has shown abnormal sleep physiology, but no studies have characterized sleep behaviors. The present study used the Children's Sleep Habits Questionnaire (CSHQ) in 42 people with…
Descriptors: Genetic Disorders, Sleep, Children, Cognitive Ability
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
Breanne J. Byiers; Alyssa M. Merbler; Chantel C. Burkitt; Frank J. Symons – American Journal on Intellectual and Developmental Disabilities, 2025
Sleep problems are common in Rett syndrome and other neurogenetic syndromes. Actigraphy is a cost-effective, objective method for measuring sleep. Current guidelines require caregiver-reported bed and wake times to facilitate actigraphy data scoring. The current study examined missingness and consistency of caregiver-reported bed and wake times…
Descriptors: Sleep, Neurodevelopmental Disorders, Psychomotor Skills, Genetic Disorders
Zigler, Christina K.; Lucas, Nicole; McFatrich, Molly; Gordon, Kelly L.; Jones, Harrison N.; Berent, Allyson; Panagoulias, Jennifer; Evans, Paula; Reeve, Bryce B. – American Journal on Intellectual and Developmental Disabilities, 2023
Communication deficits have a substantial impact on quality of life for individuals with Angelman syndrome (AS) and their families, but limited qualitative work exists to support the necessary content of measures aiming to assess communication for these individuals. Following best practices for concept elicitation studies, we conducted individual…
Descriptors: Genetic Disorders, Communication Skills, Caregivers, Children
