ArticleThe patient2019
A Conceptual Model of Angelman Syndrome and Review of Relevant Clinical Outcomes Assessments (COAs).
Article in The patient, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Use of Wearable Sensors in Angelman Syndrome: A Systematic Review.Journal of intellectual disability research : JIDR · 2026Pooled it
- Health-related quality of life and medication use among individuals with Angelman syndrome.Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation · 2023Trial
- 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
- Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.Journal of neurodevelopmental disorders · 2026Article
- Significance of Behavioural Problems on Family Impact in Angelman Syndrome: A Prospective Cross-Sectional Study.Journal of autism and developmental disorders · 2025Article
- Using the Bayley-4 and Vineland-3 in Angelman syndrome: barriers, solutions, and challenging items.Orphanet journal of rare diseases · 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
- Developmental milestones and daily living skills in individuals with Angelman syndrome.Journal of neurodevelopmental disorders · 2024Article
- Outcome measures in Angelman syndrome.Journal of neurodevelopmental disorders · 2024Article
- Qualitative Insights into Key Angelman Syndrome Motor Related Concepts Reported by Caregivers-A Thematic Analysis of Semi-Structured Interviews.Children (Basel, Switzerland) · 2023Article
- Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS).Journal of neurodevelopmental disorders · 2023Observational
- Developing Angelman syndrome-specific clinician-reported and caregiver-reported measures to support holistic, patient-centered drug development.Orphanet journal of rare diseases · 2023Article
- A disease concept model for STXBP1-related disorders.Epilepsia open · 2023Article
- A draft conceptual model of SLC6A1 neurodevelopmental disorder.Frontiers in neuroscience · 2022Article
- Clinical Characterization of Epilepsy in Children With Angelman Syndrome.Pediatric neurology · 2021Observational
- Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model.Child psychiatry and human development · 2021Article
- Development of an adapted Clinical Global Impression scale for use in Angelman syndrome.Journal of neurodevelopmental disorders · 2021Article
- Scoping Review of Judgment-Based Measures of Ambulation with Assistive Devices for Children and Youth.Physical & occupational therapy in pediatrics · 2021Article
- Adaptive Skills in FXS: A Review of the Literature and Evaluation of the PEDI-Computer Adaptive Test (PEDI-CAT) to Measure Adaptive Skills.Brain sciences · 2020Article
- An overview of health issues and development in a large clinical cohort of children with Angelman syndrome.American journal of medical genetics. Part A · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAngelman syndrome (AS) is a rare, neurological genetic disorder for which no clinical outcomes assessments (COAs) or conceptual models (CM) have been developed.
objectiveThis study aimed to identify symptoms and impacts relevant and important in this patient population and develop a conceptual model of AS, and to evaluate the content validity of selected COA instruments with potential for inclusion in clinical studies of AS to capture treatment benefit.
methodsFor both concept elicitation (CE) and cognitive interviews (CI), caregivers of children, adolescents, and adults with AS and clinicians with AS experience were targeted. For CI, clinicians discussed the Modified Performance-Oriented Mobility Assessment (MPOMA-G) and ProtoKinetics Zeno Walkway™ and caregivers reviewed the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT), the Anxiety, Depression and Mood Scale (ADAMS), the Aberrant Behavior Checklist-Community (ABC-C), and the Morning Diary.
resultsFour clinicians and 34 caregivers participated in CE interviews; three clinicians and 36 caregivers participated in CI. A conceptual model, initially informed by literature, was refined based on interview data. Five domains of symptoms, signs, and characteristics of AS were identified: cognitive and executive functioning, social-emotional, emotional-expressive behavior, sensory-compulsive behavior, and physical. Patient impacts were identified in three domains: activities of daily living, school, and social/community. Caregiver impacts were identified in five domains: mental health, physical health, work, home, and social. While all instruments demonstrated the ability to provide relevant data for the AS population, each instrument either contained some items irrelevant to individuals with AS or was missing important concepts based on the interviews. No single instrument covered all relevant domains specific to AS.
conclusionFuture work should consider the adaptation of existing COAs and the development of a novel AS-specific instrument for use in clinical research to ensure outcomes important to this patient population are captured.
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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.