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Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS)
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Melissa 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
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
Behavioral Phenotypes and Comorbidity in 3q29 Deletion Syndrome: Results from the 3q29 Registry
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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)
Brief Report: The Broad Autism Phenotype in Swedish Parents of Children with and without Autism Spectrum Conditions
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Bang, Peter; Str̦mberg, Maria; Meera, Shoba S.; Igelstr̦m, Kajsa РJournal 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
Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2
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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
Validating and Applying the CSBS-ITC in Neurogenetic Syndromes
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Hamrick, Lisa R.; Tonnsen, Bridgette L. – American Journal on Intellectual and Developmental Disabilities, 2019
Although social communication skills are commonly delayed in children with neurogenetic syndromes (NGS), skill profiles in very young children are largely under characterized, in part due to the lack of validated assessment measures appropriate for these populations. We addressed this gap by validating and applying a popular early social…
Descriptors: Rating Scales, Genetic Disorders, Test Validity, Interpersonal Communication
Examination of the ADOS-2 Expressive Language Score in Fragile X Syndrome
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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
Factor and Rasch Analysis on COVID-19 Genetics Literacy Assessment Instrument
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Fauzi, Ahmad; Saefi, Muhammad; Kristiana, Evi; Adi, Widi Cahya; Lestariani, Nurlita – EURASIA Journal of Mathematics, Science and Technology Education, 2021
During the COVID-19 pandemic, various applications of genetics were used as a basis for studying the origin of the virus to diagnosing patients with this disease. Student literacy about COVID-19 from the genetic aspect will strengthen them in dealing with misinformation in a society that rejects the existence of COVID-19. This study aimed to…
Descriptors: Foreign Countries, Factor Analysis, Item Response Theory, COVID-19
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
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Raspa, Melissa; Bann, Carla M.; Gwaltney, Angela; Benke, Timothy A.; Fu, Cary; Glaze, Daniel G.; Haas, Richard; Heydemann, Peter; Jones, Mary; Kaufmann, Walter E.; Lieberman, David; Marsh, Eric; Peters, Sarika; Ryther, Robin; Standridge, Shannon; Skinner, Steven A.; Percy, Alan K.; Neul, Jeffrey L. – American Journal on Intellectual and Developmental Disabilities, 2020
Rett syndrome (RTT) is a neurodevelopmental disorder that primarily affects females. Recent work indicates the potential for disease modifying therapies. However, there remains a need to develop outcome measures for use in clinical trials. Using data from a natural history study (n = 1,075), we examined the factor structure, internal consistency,…
Descriptors: Genetic Disorders, Psychometrics, Psychomotor Skills, Physical Disabilities
Assessment of Caregiver Inventory for Rett Syndrome
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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