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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
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
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
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
Language Skills Influence Transition Planning in Adolescents with Fragile X Syndrome
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Olivia Boorom; Heather Fielding-Gebhardt; Shelley Bredin-Oja; Kandace Fleming; Rebecca E. Swinburne Romine; Nancy Brady – American Journal on Intellectual and Developmental Disabilities, 2024
Individuals with fragile X syndrome (FXS) and their parents have a range of experiences navigating the crucial transition period between adolescence and adulthood. Semi structured interviews of 47 mothers of adolescents with FXS (mean child age = 15.89 years) were analyzed to identify mothers' changing expectations during the adolescent period and…
Descriptors: Adolescents, Genetic Disorders, Intellectual Disability, Congenital Impairments
Daily Living Skills in Adolescent and Young Adult Males with Fragile X Syndrome
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Thurman, Angela John; Swinehart, Stephanie Summers; Klusek, Jessica; Roberts, Jane E.; Bullard, Lauren; Marzan, Jocelyn Christina B.; Brown, W. Ted; Abbeduto, Leonard – American Journal on Intellectual and Developmental Disabilities, 2022
By adulthood, most males with fragile X syndrome (FXS) require support to navigate day-to-day settings. The present study cross-sectionally: (1) characterized the profile of daily living skills in males with FXS and (2) examined associated participant characteristics (i.e., fragile X mental retardation protein [FMRP] expression, nonverbal…
Descriptors: Genetic Disorders, Daily Living Skills, Males, Adolescents
Neurogenesis, Myelination, and Circuitry: The Case for a Distributed Therapeutic Regimen in Down Syndrome
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Haydar, Tarik F. – American Journal on Intellectual and Developmental Disabilities, 2020
One of the overriding hopes of the Down syndrome (DS) research community is to arrive at a better understanding of how trisomy 21 affects brain development and function, and that doing so will improve quality of life and independence for people with DS. In searching for the underlying causes of intellectual disability in DS, researchers and…
Descriptors: Down Syndrome, Medical Research, Brain Hemisphere Functions, Genetic Disorders
A Cross-Syndrome Comparison of Sleep-Dependent Learning on a Cognitive Procedural Task
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Joyce, Anna; Hill, Catherine M.; Karmiloff-Smith, Annette; Dimitriou, Dagmara – American Journal on Intellectual and Developmental Disabilities, 2019
Sleep plays a key role in the consolidation of newly acquired information and skills into long term memory. Children with Down syndrome (DS) and Williams syndrome (WS) frequently experience sleep problems, abnormal sleep architecture, and difficulties with learning; thus, we predicted that children from these clinical populations would demonstrate…
Descriptors: Sleep, Cognitive Processes, Down Syndrome, Genetic Disorders
Examining the Specificity of Forms and Functions of Aggressive Behavior in Boys with Fragile X Syndrome
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Britton, Tobias C.; Wilkinson, Ellen H.; Hall, Scott S. – American Journal on Intellectual and Developmental Disabilities, 2020
Limited information is available concerning the specificity of the forms and functions of aggressive behavior exhibited by boys with fragile X syndrome (FXS). To investigate these relationships, we conducted indirect functional assessments of aggressive behavior exhibited by 41 adolescent boys with FXS and 59 age and symptom-matched controls with…
Descriptors: Aggression, Males, Genetic Disorders, Adolescents
A Description of the Educational Setting among Individuals with Fragile X Syndrome
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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
Mental Health and Well-Being in Mothers of Children with Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study
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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)
The Emergence of Effortful Control in Young Boys with Fragile X Syndrome
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Robinson, Marissa; Klusek, Jessica; Poe, Michele D.; Hatton, Deborah D.; Roberts, Jane E. – American Journal on Intellectual and Developmental Disabilities, 2018
Effortful control, or the ability to suppress a dominant response to perform a subdominant response, is an early-emerging temperament trait that is linked with positive social-emotional development. Fragile X syndrome (FXS) is a single-gene disorder characterized by hallmark regulatory impairments, suggesting diminished effortful control. This…
Descriptors: Genetic Disorders, Congenital Impairments, Intellectual Disability, Males
Differential Relationships of Anxiety and Autism Symptoms on Social Skills in Young Boys with Fragile X Syndrome
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Reisinger, Debra L.; Roberts, Jane E. – American Journal on Intellectual and Developmental Disabilities, 2017
Social skills are critical for academic, social, and psychological success of children with both typical and atypical development. Boys with fragile X syndrome (FXS) are at high risk for social skill impairments, given intellectual impairments and secondary conditions. The present study examines the impact of adaptive behavior, autism symptoms,…
Descriptors: Anxiety, Autism, Symptoms (Individual Disorders), Males
The PRETEND Program: Evaluating the Feasibility of a Remote Parent-Training Intervention for Children with Prader-Willi Syndrome
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Zyga, Olena; Russ, Sandra W.; Dimitropoulos, Anastasia – American Journal on Intellectual and Developmental Disabilities, 2018
Research has shown that children with Prader-Willi syndrome (PWS) have social-cognitive challenges and decreased quality parent-child interactions. However, given the low prevalence rate, developing interventions for children with PWS is faced with the significant challenge of enrolling enough participants for local studies. To better understand…
Descriptors: Genetic Disorders, Intellectual Disability, Interpersonal Competence, Parent Child Relationship
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