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Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs
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Tess 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
Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome
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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
Systematic Review of Intervention Programs Designed to Improve the Socioemotional Skills of Children and Adolescents with Prader-Willi Syndrome
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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
Efficacy of a Remote Play-Based Intervention for Children with Prader-Willi Syndrome
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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
Validation of the Observer-Reported Communication Ability (ORCA) Measure for Individuals with Angelman Syndrome
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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
SPARKing New Insight into Autism across the Lifespan
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Khemika K. Sudnawa; Wendy K. Chung – American Journal on Intellectual and Developmental Disabilities, 2024
Autism is heterogeneous at many levels, including clinical symptoms and etiology. A key strategy in studying heterogeneous conditions is having large enough sample sizes to stratify into smaller groups that are more homogeneous. SPARK and Simons Searchlight are large and growing research cohorts of individuals with autism in the United States and…
Descriptors: Autism Spectrum Disorders, Research, Data Collection, Genetics
The Executive Function Account of Repetitive Behavior: Evidence from Rubinstein-Taybi Syndrome
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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
Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome
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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
Diagnostic Journey for Tuberous Sclerosis Complex--Interviews from a Clinical Trial
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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
On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability"
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Thurm, Audrey; Srivastava, Siddharth – American Journal on Intellectual and Developmental Disabilities, 2022
Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies…
Descriptors: Intellectual Disability, Comorbidity, Etiology, Genetics
Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change
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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
Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints
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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
Semi-Automatic Assessment of Vocalization Quality for Children With and Without Angelman Syndrome
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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
"FMR1" CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers
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Maltman, Nell; DaWalt, Leeann Smith; Hong, Jinkuk; Baker, Mei Wang; Berry-Kravis, Elizabeth M.; Brilliant, Murray H.; Mailick, Marsha – American Journal on Intellectual and Developmental Disabilities, 2023
Variation in the "FMR1" gene may affect aspects of cognition, such as executive function and memory. Environmental factors, such as stress, may also negatively impact cognitive functioning. Participants included 1,053 mothers of children with and without developmental disabilities. Participants completed self-report measures of executive…
Descriptors: Genetics, Cognitive Ability, Executive Function, Memory
Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies
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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
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