ArticleChild psychiatry and human development2021
Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model.
Article in Child psychiatry and human development, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 77 citations in OpenAlex.
- Caregiver Meaningful Score Differences and Meaningful Score Regions for the Observer-Reported Communication Ability Measure for Individuals with Angelman Syndrome.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2026Article
- Emerging Therapies for Angelman Syndrome.CNS drugs · 2026Review
- Establishing meaningful score differences for the observer-reported communication ability (ORCA) measure using the scale judgment approach with caregivers of individuals with Angelman syndrome.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2026Article
- Challenging behaviors across COVID-19 in young children with rare neurogenetic conditions: A seven-year, cross-syndrome analysis.Child development · 2026Article
- Constructing an Evidence-Based Validity Rationale for a Multi-component Endpoint in Heterogeneous Populations.Therapeutic innovation & regulatory science · 2026Article
- Evaluating different scoring algorithms to assess communication ability for individuals living with Angelman syndrome: the Observer-Reported Communication Ability (ORCA) measure.Journal of patient-reported outcomes · 2026Article
- The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.Journal of child psychology and psychiatry, and allied disciplines · 2026Article
- A mixed methods study of the impact of WAGR spectrum disorder on individuals and their caregivers.Orphanet journal of rare diseases · 2026Article
- Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.Journal of neurodevelopmental disorders · 2026Article
- Operant behavior is reliably impaired in a mouse model of Angelman syndrome.Research square · 2026Article
- Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.Journal of neurodevelopmental disorders · 2026Article
- Association of the Observer-Reported Communication Ability (ORCA) Measure with Established Communication Measures: Insights From the Angelman Syndrome Natural History Study.Journal of autism and developmental disorders · 2026Article
- Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.Orphanet journal of rare diseases · 2025Article
- Development of the Angelman syndrome video assessment: quantifying meaningful change.Journal of neurodevelopmental disorders · 2025Article
- Courtship and distress ultrasonic vocalizations are altered in a mouse model of Angelman syndrome.Journal of neurodevelopmental disorders · 2025Article
- Disability, Genetic Counseling, and Medical Education: From Eugenics to Anti-Ableism.Annual review of genomics and human genetics · 2025Review
- Significance of Behavioural Problems on Family Impact in Angelman Syndrome: A Prospective Cross-Sectional Study.Journal of autism and developmental disorders · 2025Article
- Community-Sourced Reporting of Mortalities in Angelman Syndrome (1979-2022).American journal of medical genetics. Part A · 2025Article
- The economic impact of caregiving for individuals with Angelman syndrome in the United States: results from a caregiver survey.Orphanet journal of rare diseases · 2025Article
- Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.Journal of autism and developmental disorders · 2024Article
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Angelman syndrome (AS) is a complex, heterogeneous, and life-long neurodevelopmental disorder. Despite the considerable impact on individuals and caregivers, no disease-modifying treatments are available. To support holistic clinical management and the development of AS-specific outcome measures for clinical studies, we conducted primary and secondary research identifying the impact of symptoms on individuals with AS and their unmet need. This qualitative research adopted a rigorous step-wise approach, aggregating information from published literature, then evaluating it via disease concept elicitation interviews with clinical experts and caregivers. We found that the AS-defining concepts most relevant for treatment included: impaired expressive communication, seizures, maladaptive behavior, cognitive impairment, motor function difficulties, sleep disturbance, and limited self-care abilities. We highlight the relevance of age in experiencing these key AS concepts, and the difference between the perceptions of clinicians and caregivers towards the syndrome. Finally, we outline the impact of AS on individuals, caregivers, and families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.