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SPARKing New Insight into Autism across the Lifespan
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Khemika K. Sudnawa; Wendy K. Chung – American Journal on Intellectual and Developmental Disabilities, 2024
Autism is heterogeneous at many levels, including clinical symptoms and etiology. A key strategy in studying heterogeneous conditions is having large enough sample sizes to stratify into smaller groups that are more homogeneous. SPARK and Simons Searchlight are large and growing research cohorts of individuals with autism in the United States and…
Descriptors: Autism Spectrum Disorders, Research, Data Collection, Genetics
Moving the Needle toward Equity: What NIH Is Doing to Promote Diversity, Inclusion, and Accessibility in Research on Intellectual and Developmental Disabilities
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King, Tracy M.; Parisi, Melissa A. – American Journal on Intellectual and Developmental Disabilities, 2023
As a major funder of research on intellectual and developmental disabilities (IDD), NIH has a broad view of the profound impact of cultural and structural barriers on the characteristics of IDD study populations and the composition of the IDD research workforce. While long overdue, multiple efforts are currently underway across NIH aimed at…
Descriptors: Intellectual Disability, Developmental Disabilities, Research, Diversity
Toward Equity in Research on Intellectual and Developmental Disabilities
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Kover, Sara T.; Abbeduto, Leonard – American Journal on Intellectual and Developmental Disabilities, 2023
Lack of diversity in IDD research is typically conceptualized only in terms of (1) recruitment of samples that do not appropriately represent the sociodemographics of the population, or (2) the limited number of researchers from historically marginalized backgrounds. Critically, the field also suffers from over-reliance on perspectives and social…
Descriptors: Educational Research, Equal Education, Intellectual Disability, Developmental Disabilities
Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies
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Berry-Kravis, Elizabeth – American Journal on Intellectual and Developmental Disabilities, 2022
Fragile X syndrome (FXS), as a monogenic cause of intellectual disability and autism spectrum disorder, has been one of the first neurodevelopmental disorders in which molecular and neuronal mechanisms of disease have been identified, leading to the concept of targeting the underlying disease to reverse symptoms. Translating findings in basic…
Descriptors: Genetic Disorders, Intellectual Disability, Autism, Pervasive Developmental Disorders
The Road to Personalized Therapies: Lessons Learned from Angelman Syndrome
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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
On Terms: What's in a Name? Intellectual Disability and "Condition," "Disorder," "Syndrome," "Disease," and "Disability"
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Thurm, Audrey; Srivastava, Siddharth – American Journal on Intellectual and Developmental Disabilities, 2022
Individuals living with intellectual disability can have multiple co-occurring medical conditions including associated genetic diagnoses. The number of genetic etiologies associated with ID is growing, with some quite new and rare, and others more common and associated with what is often considered a syndrome. In the context of genetic etiologies…
Descriptors: Intellectual Disability, Comorbidity, Etiology, Genetics
Family-Based Practices to Promote Well-Being
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McIntyre, Laura Lee – American Journal on Intellectual and Developmental Disabilities, 2020
Interventions that promote parent and child well-being in families with children with intellectual and developmental disabilities (IDD) are important, given the caregiving burden often associated with supporting children with developmental and behavioral challenges. This article summarizes a presentation made at the 2019 AAIDD annual conference…
Descriptors: Family Role, Well Being, Intervention, Evidence Based Practice
Implementation Science of Mindfulness in Intellectual and Developmental Disabilities
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Singh, Nirbhay N. – American Journal on Intellectual and Developmental Disabilities, 2020
Implementation science deals with the translation of evidence-based knowledge into practice in the real world. Mindfulness-based programs for people with intellectual and developmental disabilities (IDD) emerged about 20 years ago. Efficacy and effectiveness studies provide the evidence-base for these programs and the field of IDD is moving…
Descriptors: Program Implementation, Metacognition, Intellectual Disability, Developmental Disabilities
Outcome Measures for Core Symptoms of Intellectual Disability: State of the Field
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Thurm, Audrey; Kelleher, Bridgette; Wheeler, Anne – American Journal on Intellectual and Developmental Disabilities, 2020
Intellectual disability (ID) is defined by impairments in intellectual and adaptive functioning. As such, tools designed to assess these domains would theoretically be ideal outcome measures for treatment trials targeting core symptoms of ID. However, measures of intellectual and adaptive functioning have rarely been used as primary outcome…
Descriptors: Intellectual Disability, Symptoms (Individual Disorders), Measures (Individuals), Measurement Techniques
Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders
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Farmer, Cristan A.; Kaat, Aaron J.; Thurm, Audrey; Anselm, Irina; Akshoomoff, Natacha; Bennett, Amanda; Berry, Leandra; Bruchey, Aleksandra; Barshop, Bruce A.; Berry-Kravis, Elizabeth; Bianconi, Simona; Cecil, Kim M.; Davis, Robert J.; Ficicioglu, Can; Porter, Forbes D.; Wainer, Allison; Goin-Kochel, Robin P.; Leonczyk, Caroline; Guthrie, Whitney; Koeberl, Dwight; Love-Nichols, Jamie; Mamak, Eva; Mercimek-Andrews, Saadet; Thomas, Rebecca P.; Spiridigliozzi, Gail A.; Sullivan, Nancy; Sutton, Vernon R.; Udhnani, Manisha D.; Waisbren, Susan E.; Miller, Judith S. – American Journal on Intellectual and Developmental Disabilities, 2020
Although norm-referenced scores are essential to the identification of disability, they possess several features which affect their sensitivity to change. Norm-referenced scores often decrease over time among people with neurodevelopmental disorders who exhibit slower-than-average increases in ability. Further, the reliability of norm-referenced…
Descriptors: Developmental Disabilities, Norm Referenced Tests, Scores, Ability
Psychophysiological and Eye-Tracking Markers of Speech and Language Processing in Neurodevelopmental Disorders: New Options for Difficult-to-Test Populations
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Key, Alexandra P.; Venker, Courtney E.; Sandbank, Micheal P. – American Journal on Intellectual and Developmental Disabilities, 2020
It can be challenging to accurately assess speech and language processing in preverbal or minimally verbal individuals with neurodevelopmental disabilities (NDD) using standardized behavioral tools. Event-related potential and eye tracking methods offer novel means to objectively document receptive language processing without requiring purposeful…
Descriptors: Speech Impairments, Language Impairments, Language Processing, Neurological Impairments
Advancing Knowledge of Down Syndrome Brain Development and Function with Human Stem Cells
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Bhattacharyya, Anita – American Journal on Intellectual and Developmental Disabilities, 2020
Our bodies are made up of over 250 specific cell types, and all initially arise from stem cells during embryonic development. Stem cells have two characteristics that make them unique: (1) they are pluripotent, meaning that they can differentiate into all cell types of the body, and (2) they are capable of self-renewal to generate more of…
Descriptors: Down Syndrome, Brain, Individual Development, Intellectual Disability
Current Research Approaches to Down Syndrome: Translational Research Perspectives
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Capone, George T. – American Journal on Intellectual and Developmental Disabilities, 2020
Translational research means different things to different people. In the biomedical research community, translational research is the process of applying knowledge from basic biology and clinical trials to techniques and tools that address critical medical needs such as new therapies. Translational research then is a "bench to bedside"…
Descriptors: Down Syndrome, Research, Genetic Disorders, Physiology
The Search for Biomarkers of Alzheimer's Disease in Down Syndrome
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Handen, Benjamin L. – American Journal on Intellectual and Developmental Disabilities, 2020
Adults with Down syndrome are at high risk for Alzheimer's disease (AD), with most individuals developing clinical dementia by their late 60s. This increased risk for AD has been attributed, at least in part, to triplication and overexpression of the gene for amyloid precursor protein (APP) on chromosome 21, leading to elevated levels of amyloid…
Descriptors: Adults, Down Syndrome, Alzheimers Disease, At Risk Persons
A Primer on Single-Case Research Designs: Contemporary Use and Analysis
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Ledford, Jennifer R.; Barton, Erin E.; Severini, Katherine E.; Zimmerman, Kathleen N. – American Journal on Intellectual and Developmental Disabilities, 2019
The overarching purpose of this article is to provide an introduction to the use of rigorous single-case research designs (SCRDs) in special education and related fields. Authors first discuss basic design types and research questions that can be answered with SCRDs, examine threats to internal validity and potential ways to control for and detect…
Descriptors: Special Education, Research Methodology, Case Studies, Research Design
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