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Direct linkZigler, 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
Duis, Jessica – American Journal on Intellectual and Developmental Disabilities, 2022
Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental…
Descriptors: Neurological Impairments, Genetic Disorders, Expressive Language, Delayed Speech
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
Fielding-Gebhardt, Heather; Bredin-Oja, Shelley L.; Warren, Steven F. – American Journal on Intellectual and Developmental Disabilities, 2021
The development of an expressive language score for people with autism based on the ADOS-2 was recently reported by Mazurek et al. (2019). The current study examined the construct validity of the ADOS-2 expressive language score (ELS) in a sample of adolescents with fragile X syndrome (n = 45, 10 girls), a neurodevelopmental disorder with high…
Descriptors: Autism, Pervasive Developmental Disorders, Expressive Language, Genetic Disorders
Klusek, Jessica; Martin, Gary E.; Losh, Molly – American Journal on Intellectual and Developmental Disabilities, 2013
This study tested the hypothesis that pragmatic (i.e., social) language impairment is linked to arousal dysregulation in autism spectrum disorder (ASD) and fragile X syndrome (FXS). Forty boys with ASD, 39 with FXS, and 27 with typical development (TD), aged 4-15 years, participated. Boys with FXS were hyperaroused compared to boys with TD but did…
Descriptors: Physiology, Genetic Disorders, Pervasive Developmental Disorders, Autism
McDuffie, Andrea; Kover, Sara; Abbeduto, Leonard; Lewis, Pamela; Brown, Ted – American Journal on Intellectual and Developmental Disabilities, 2012
The authors examined receptive and expressive language profiles for a group of verbal male children and adolescents who had fragile X syndrome along with varying degrees of autism symptoms. A categorical approach for assigning autism diagnostic classification, based on the combined use of the Autism Diagnostic Interview--Revised and the Autism…
Descriptors: Receptive Language, Expressive Language, Language Skills, Profiles
