ReviewOrphanet journal of rare diseases2017
Unmet clinical needs and burden in Angelman syndrome: a review of the literature.
Review in Orphanet journal of rare diseases, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
60 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Use of Wearable Sensors in Angelman Syndrome: A Systematic Review.Journal of intellectual disability research : JIDR · 2026Pooled it
- Facial expression deep learning algorithms in the detection of neurological disorders: a systematic review and meta-analysis.Biomedical engineering online · 2025Pooled it
- Sleep disorders in rare genetic syndromes: a meta-analysis of prevalence and profile.Molecular autism · 2021Pooled 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
- The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.Neurology · 2021Trial
- A randomized placebo controlled clinical trial to evaluate the efficacy and safety of minocycline in patients with Angelman syndrome (A-MANECE study).Orphanet journal of rare diseases · 2018Trial
- Emerging Therapies for Angelman Syndrome.CNS drugs · 2026Review
- Cannabidiol corrects sleep deficits and reduces spontaneous seizures in Angelman syndrome model mice.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2026Article
- Association between a diagnostic journey in Angelman syndrome and caregivers' quality of life.Journal of neurodevelopmental disorders · 2026Article
- Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.Orphanet journal of rare diseases · 2025Article
- Advancing observer-reported outcome measurement: development of the MOOD-AS for observing distress in Angelman syndrome.Journal of patient-reported outcomes · 2025Article
- Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome.Journal of intellectual disability research : JIDR · 2025Article
- 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
- Myoclonic Dystonia: A Common Phenomenology in the Pleomorphic Movements of Angelman Syndrome.Movement disorders clinical practice · 2025Article
- Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.Journal of intellectual disability research : JIDR · 2025Article
- Prelinguistic Communication Complexity of Children With Neurogenetic Syndromes.Journal of speech, language, and hearing research : JSLHR · 2025Article
- Association Between Challenging Behaviour and Sleep Problems in Adults Enrolled in the Global Angelman Syndrome Registry.Journal of autism and developmental disorders · 2025Article
- Increased Extra-Axial Cerebrospinal Fluid Volume in Children with Angelman Syndrome: Links to Sleep Problems and Seizures.Annals of the Child Neurology Society · 2025Article
- 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
- Criteria to evaluate unmet health-related needs of persons living with rare diseases and their caregivers: rapid literature review and stakeholder consultations.Orphanet journal of rare diseases · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAngelman syndrome (AS) is a rare disorder with a relatively well-defined phenotype. Despite this, very little is known regarding the unmet clinical needs and burden of this condition, especially with regard to some of the most prevalent clinical features-movement disorders, communication impairments, behavior, and sleep. MAIN TEXT: A targeted literature review using electronic medical databases (e.g., PubMed) was conducted to identify recent studies focused on specific areas of the AS phenotype (motor, communication, behavior, sleep) as well as epidemiology, diagnostic processes, treatment, and burden. 142 articles were reviewed and summarized. Findings suggest significant impairment across the life span in all areas of function. While some issues may resolve as individuals get older (e.g., hyperactivity), others become worse (e.g., movement disorders, aggression, anxiety). There are no treatments focused on the underlying etiology, and the symptom-based therapies currently prescribed do not have much, if any, empirical support.
conclusionsThe lack of standardized treatment protocols or approved therapies, combined with the severity of the condition, results in high unmet clinical needs in the areas of motor functioning, communication, behavior, and sleep for individuals with AS and their 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.