ArticleAmerican journal of medical genetics. Part A2021
Clinical aspects of a large group of adults with Angelman syndrome.
Article in American journal of medical genetics. Part A, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Status Epilepticus in Chromosomal Disorders Associated with Epilepsy: A Systematic Review.Genes · 2023Pooled it
- Unveiling sleep disturbances in KCNB1-related disorders: Insights from a cohort of 78 individuals.Epilepsia open · 2026Article
- Crossing the finish line towards a disease-modifying treatment for Angelman syndrome.Journal of neurodevelopmental disorders · 2026Review
- Molecular aspects of Angelman Syndrome: Defining the new path forward.Biomolecules & biomedicine · 2025Review
- Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry.Journal of autism and developmental disorders · 2025Article
- Assessment of Dysphagia in Chinese Cohort of Angelman Syndrome: An Observational Study.CNS neuroscience & therapeutics · 2025Observational
- A preclinical pig model of Angelman syndrome mirrors the early developmental trajectory of the human condition.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Sleep disturbances in SCN8A-related disorders.Epilepsia open · 2024Article
- Neuronal UBE3A substrates hold therapeutic potential for Angelman syndrome.Current opinion in neurobiology · 2024Review
- Italian report on RARE epilepsies (i-RARE): A consensus on multidisciplinarity.Epilepsia open · 2024Article
- Hyperphagia, Growth, and Puberty in Children with Angelman Syndrome.Journal of clinical medicine · 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
- [Angelman syndrome in adulthood].Revista de neurologia · 2023Article
- Laryngotracheal separation surgery in a patient with severe Angelman syndrome involving a 19.3 Mb deletion on 15q11.2-q14.Clinical case reports · 2022Article
- Methylation analysis and developmental profile of two individuals with Angelman syndrome due to mosaic imprinting defects.European journal of medical genetics · 2022Article
- Double paternal uniparental isodisomy 7 and 15 presenting with Beckwith-Wiedemann spectrum features.Cold Spring Harbor molecular case studies · 2021Article
- UBE3A reinstatement as a disease-modifying therapy for Angelman syndrome.Developmental medicine and child neurology · 2021Review
- Clinical aspects of a large group of adults with Angelman syndrome.American journal of medical genetics. Part A · 2021Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Descriptions of the clinical features of Angelman syndrome (AS) have mainly been focused on children. Here, we describe the evolution of the clinical phenotypes of AS in adulthood, using clinical data from 95 individuals (mean age 31.6 years, median 29.0 years, range 18-83 years), with genetically confirmed AS. Data was collected through physical examination and inspection of medical records, combined with questionnaires and interviews. Adults with AS experience substantial debilitating health problems. Constipation, reflux, visual problems, scoliosis, behavioral and sleeping problems occurred frequently and require appropriate attention. Epilepsy was reported in 57% of adults, negatively affecting the level of functioning. Non-convulsive status epilepticus was not observed in the adults, however some individuals developed prolonged episodes of rhythmic shaking while awake. A decline in mobility was noted in the majority of adults. A minority of adults with AS showed microcephaly. Taken together, this first phenotypic study of adults with AS to include in person interviews with care-givers and physical examination of patients, including the eldest adult reported to date, provides important insight in the development of the syndrome into adulthood. This knowledge is required to improve care for adult individuals with AS and to evaluate future therapies for this group.
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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.