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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
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
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
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
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
Download full textFauzi, 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
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
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
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
Russo-Ponsaran, Nicole M.; Yesensky, Jessica; Hessl, David; Berry-Kravis Elizabeth – American Journal on Intellectual and Developmental Disabilities, 2014
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the most common known genetic cause of autism. FXS is associated with psychiatric impairments, including anxiety disorders. There is a paucity of well-developed measures to characterize anxiety in FXS. However, such scales are needed to measure therapeutic…
Descriptors: Genetic Disorders, Children, Anxiety, Anxiety Disorders
Hall, S. S.; Hammond, J. L.; Hirt, M.; Reiss, A. L. – Journal of Intellectual Disability Research, 2012
Background: Clinical trials of medications to alleviate the cognitive and behavioural symptoms of individuals with fragile X syndrome (FXS) are now underway. However, there are few reliable, valid and/or sensitive outcome measures available that can be directly administered to individuals with FXS. The majority of assessments employed in clinical…
Descriptors: Outcome Measures, Test Validity, Feedback (Response), Reinforcement
Rinaldo, Piero; Zafari, Saba; Tortorelli, Silvia; Matern, Dietrich – Mental Retardation and Developmental Disabilities Research Reviews, 2006
The expansion of newborn screening programs to include multiplex testing by tandem mass spectrometry requires understanding and close monitoring of performance metrics. This is not done consistently because of lack of defined targets, and interlaboratory comparison is almost nonexistent. Between July 2004 and April 2006 (N = 176,185 cases), the…
Descriptors: Program Effectiveness, Screening Tests, Spectroscopy, Neonates
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