ArticleAmerican journal of medical genetics. Part A2015
Angelman syndrome in adulthood.
Article in American journal of medical genetics. Part A, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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.
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Who cites it
48 citing papers in PubMed, 97 citations in OpenAlex.
- 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
- The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.Neurology · 2021Trial
- Cortical Hyperexcitability Shapes Large-Scale Brain Dynamics and Behavioral Outcome in Angelman Syndrome.Biological psychiatry global open science · 2026Article
- Clinical and Genetic Insights into Angelman Syndrome: A Retrospective Study of 26 Cases in Morocco.Journal of molecular neuroscience : MN · 2026Article
- Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.Journal of neurodevelopmental disorders · 2026Article
- Development of at-home video recordings for functional skill assessment in Angelman Syndrome: a pilot study.Journal of neurodevelopmental disorders · 2026Article
- Cofilin Inhibition Ameliorates PIEZO2 and AMPA Dysfunction in a Mouse Model of Angelman Syndrome.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry.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
- [Epilepsy in Angelman syndrome and the most common electroencephalographic findings].Revista de neurologia · 2024Observational
- Angelman syndrome in Poland: current diagnosis and therapy status-the caregiver perspective: a questionnaire study.Orphanet journal of rare diseases · 2024Article
- Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?Trends in neurosciences · 2024Review
- Sleep disturbance in Angelman syndrome patients.Orphanet journal of rare diseases · 2024Review
- Imbalanced expression of cation-chloride cotransporters as a potential therapeutic target in an Angelman syndrome mouse model.Scientific reports · 2023Article
- Effects of UBE3A on Cell and Liver Metabolism through the Ubiquitination of PDHA1 and ACAT1.Biochemistry · 2023Article
- The Cost of Raising Individuals with Fragile X or Chromosome 15 Imprinting Disorders in Australia.Journal of autism and developmental disorders · 2023Article
- [Angelman syndrome in adulthood].Revista de neurologia · 2023Article
- Linoleic acid improves PIEZO2 dysfunction in a mouse model of Angelman Syndrome.Nature communications · 2023Article
- Association between early and current gastro-intestinal symptoms and co-morbidities in children and adolescents with Angelman syndrome.Journal of intellectual disability research : JIDR · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Angelman syndrome (AS) is a neurogenetic disorder. The goal of this study was to investigate the primary health issues affecting adults with AS and to further characterize the natural history and genotype-phenotype correlations. Standardized phone interviews with caregivers for 110 adolescents and adults with AS were conducted. The impact of age, sex, and genotype on specific outcomes in neurology, orthopedics, internal medicine, and psychiatry were investigated. The mean age of individuals with AS was 24 years (range 16-50y). Active seizures were present in 41% of individuals, and 72% had sleep dysfunction. Significant constipation was present in 85%, and 32% were overweight or obese, with obesity disproportionately affecting women. Scoliosis affected 50% with a mean age at diagnosis of 12 years, and 24% of those diagnosed with scoliosis required surgery, an intervention disproportionately affecting men. Sixty-eight percent were able to walk independently, and 13% were able to speak 5 or more words. Self-injurious behavior was exhibited in 52% of individuals. The results of this study indicate that epilepsy severity may assume a bimodal age distribution: seizures are typically most severe in early childhood but may recur in adulthood. While late-adolescent and adult sleep patterns were improved when compared to the degree of sleep dysfunction present during infancy and childhood, the prevalence of poor sleep in adults remained quite high. Primary areas of clinical management identified include the following: seizures, sleep, aspiration risk, GERD, constipation, dental care, vision, obesity, scoliosis, bone density, mobility, communication, behavior, and anxiety.
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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.