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Direct linkCristan 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
Wheeler, Anne C.; Wylie, Amanda; Raspa, Melissa; Villagomez, Adrienne; Miller, Kylee; Edwards, Anne; DeRamus, Margaret; Appelbaum, Paul S.; Bailey, Donald B., Jr. – Journal of Autism and Developmental Disorders, 2020
Although informed consent is critical for all research, there is increased ethical responsibility as individuals with intellectual or developmental disabilities (IDD) become the focus of more clinical trials. This study examined decisional capacity for informed consent to clinical trials in individuals with fragile X syndrome (FXS). Participants…
Descriptors: Informed Consent, Genetic Disorders, Intellectual Disability, Decision Making
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
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
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
Bangert, Katherine; Scott, Kathleen Scaler; Adams, Charley; Kisenwether, Jessica S.; Giuffre, Lisa; Reed, Jenna; Thurman, Angela John; Abbeduto, Leonard; Klusek, Jessica – Journal of Speech, Language, and Hearing Research, 2022
Purpose: Cluttering is a fluency disorder that has been noted clinically in individuals with fragile X syndrome (FXS). Yet, cluttering has not been systematically characterized in this population, hindering identification and intervention efforts. This study examined the rates of cluttering in male young adults with FXS using expert clinical…
Descriptors: Speech Impairments, Genetic Disorders, Congenital Impairments, Intellectual Disability
Mattie, Laura J.; Hamrick, Lisa R. – Autism & Developmental Language Impairments, 2022
Background and Aims: Individuals with fragile X syndrome (FXS) characteristically struggle with language and communication throughout the life course, but there is limited research on the development of communication before 24 months. The purpose of this study is to describe the early communication of infants and toddlers with FXS using the…
Descriptors: Genetic Disorders, Congenital Impairments, Intellectual Disability, Language Impairments
Crutcher, Emeline; Ali, May; Harrison, John; Sovago, Judit; Gomez-Mancilla, Baltazar; Schaaf, Christian P. – Journal of Autism and Developmental Disorders, 2016
15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed to determine if any or all of three cognitive testing systems (the KiTAP, CogState, and Stanford-Binet) are suitable for assessment of cognitive function in affected individuals. These three tests were administered to ten…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Adolescents
Fisher, M. H.; Lense, M. D.; Dykens, E. M. – Journal of Intellectual Disability Research, 2016
Background: Williams syndrome (WS) is associated with a distinct cognitive-behavioural phenotype including mild to moderate intellectual disability, visual-spatial deficits, hypersociability, inattention and anxiety. Researchers typically characterise samples of individuals with WS by their intellectual functioning and adaptive behaviour. Because…
Descriptors: Genetic Disorders, Intellectual Disability, Cognitive Development, Adolescents
Sugarman, Michael A.; Jacobs, Dennis R.; Paulson, Daniel; Tomlinson, M. Michele; Lichtenberg, Peter A. – Journal of Intellectual & Developmental Disability, 2014
Background: The goal of the current study was to determine if the Dementia Rating Scale-2 (DRS-2) is an appropriate tool for evaluating cognitive abilities in adults with Prader-Willi syndrome (PWS). The DRS-2 is a screening measure previously utilised in low-functioning populations with and without dementia, including individuals with…
Descriptors: Genetic Disorders, Dementia, Rating Scales, Adults
Alfieri, P.; Menghini, D.; Marotta, L.; De Peppo, L.; Ravà, L.; Salvaguardia, F.; Varuzza, C.; Vicari, S. – Journal of Intellectual Disability Research, 2017
Background: Individuals with Williams syndrome (WS) show a disharmonic linguistic profile with a clear pattern of strengths and weaknesses. Despite their sociable nature, atypical socio-communicative abilities and deficits in communication and relationship with others have been found. Aim: The aim of the present study was to investigate whether…
Descriptors: Intellectual Disability, Genetic Disorders, Language Skills, Interpersonal Communication
