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Direct linkMelissa Raspa; Angela Gwaltney; Carla Bann; Jana von Hehn; Timothy A. Benke; Eric D. Marsh; Sarika U. Peters; Amitha Ananth; Alan K. Percy; Jeffrey L. Neul – Journal of Autism and Developmental Disorders, 2025
Rett syndrome is a severe neurodevelopmental disorder that affects about 1 in 10,000 females. Clinical trials of disease modifying therapies are on the rise, but there are few psychometrically sound caregiver-reported outcome measures available to assess treatment benefit. We report on a new caregiver-reported outcome measure, the Rett Caregiver…
Descriptors: Neurodevelopmental Disorders, Genetic Disorders, Females, Test Validity
Rebecca M. Pollak; Michael Mortillo; Melissa M. Murphy; Jennifer G. Mulle – Journal of Autism and Developmental Disorders, 2025
3q29 deletion syndrome (3q29del) is associated with a significantly increased risk for neurodevelopmental and neuropsychiatric disorders. However, the full spectrum of behavioral phenotypes associated with 3q29del is still evolving. Individuals with 3q29del (n = 96, 60.42% male) or their guardian completed the Achenbach Child or Adult Behavior…
Descriptors: Genetic Disorders, Neurodevelopmental Disorders, Behavior Disorders, Symptoms (Individual Disorders)
Bang, Peter; Strömberg, Maria; Meera, Shoba S.; Igelström, Kajsa – Journal of Autism and Developmental Disorders, 2022
The broad autism phenotype (BAP) is a set of characteristics often observed in typically developing people with a genetic load for autism, such as parents of autistic children. The Broad Autism Phenotypic Questionnaire (BAPQ) is a 36-item questionnaire developed to identify the BAP in first-degree relatives of autistic people. We translated the…
Descriptors: Autism Spectrum Disorders, Disability Identification, Symptoms (Individual Disorders), Psychometrics
Kidd, Sharon A.; Berry-Kravis, Elizabeth; Choo, Tse Hwei; Chen, Chen; Esler, Amy; Hoffmann, Anne; Andrews, Howard F.; Kaufmann, Walter E. – Journal of Autism and Developmental Disorders, 2020
We carried out a psychometric assessment of the Social Communication Questionnaire (SCQ) and the Social Responsiveness Scale (SRS-2) in fragile X syndrome (FXS), relative to clinician DSM5-based diagnosis of autism spectrum disorder (ASD) in FXS. This was followed by instrument revisions that included: removal of non-discriminating and/or low face…
Descriptors: Autism, Pervasive Developmental Disorders, Genetic Disorders, Clinical Diagnosis
Lane, Jane B.; Salter, Amber R.; Jones, Nancy E.; Cutter, Gary; Horrigan, Joseph; Skinner, Steve A.; Kaufmann, Walter E.; Glaze, Daniel G.; Neul, Jeffrey L.; Percy, Alan K. – Journal of Autism and Developmental Disorders, 2017
Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi…
Descriptors: Caregivers, Caregiver Attitudes, Test Reliability, Test Validity
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
