ArticleJournal of developmental and behavioral pediatrics : JDBP2010
A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations.
Article in Journal of developmental and behavioral pediatrics : JDBP, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. It is linked to trial NCT03650569 (Italian Angelman Syndrome Registry Project), which is not on this map. Cited by 80 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.
Italian Angelman Syndrome Registry Project
Who cites it
80 citing papers in PubMed, 166 citations in OpenAlex.
- Delta power robustly predicts cognitive function in Angelman syndrome.Annals of clinical and translational neurology · 2021Trial
- Mechanisms underlying the EEG biomarker in Dup15q syndrome.Molecular autism · 2019Trial
- A randomized controlled trial of levodopa in patients with Angelman syndrome.American journal of medical genetics. Part A · 2018Trial
- Loss of DrosophilaFly · 2026Article
- 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
- Periodic and aperiodic contributions to EEG delta power are translatable and complementary Angelman syndrome biomarkers.Communications medicine · 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
- Criterion Validity, Scalability and Stability of Scoring on the Bayley-III in Children With Angelman Syndrome.Journal of intellectual disability research : JIDR · 2025Article
- Development of the Angelman syndrome video assessment: quantifying meaningful change.Journal of neurodevelopmental disorders · 2025Article
- Parental Stress and Family Quality of Life in Families of Individuals Living With Angelman Syndrome.Journal of intellectual disability research : JIDR · 2025Article
- Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy.Journal of intellectual disability research : JIDR · 2025Article
- 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
- Acute administration of lovastatin had no pronounced effect on motor abilities, motor coordination, gait nor simple cognition in a mouse model of Angelman syndrome.Journal of neurodevelopmental disorders · 2025Article
- Age-Related Trajectories of Autistic Traits in Children With Angelman Syndrome.Autism research : official journal of the International Society for Autism Research · 2025Article
- Cullin-RING Ubiquitin Ligases in Neurodevelopment and Neurodevelopmental Disorders.Biomedicines · 2025Review
- Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition.Journal of autism and developmental disorders · 2024Article
- A clinical-translational review of sleep problems in neurodevelopmental disabilities.Journal of neurodevelopmental disorders · 2024Review
- Exploring the Clinical and Genetic Landscape of Angelman Syndrome: Patient-Reported Insights from an Italian Registry.Journal of clinical medicine · 2024Article
20 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 5 institutions in 3 countries.
Funding
Abstract
objectiveAngelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile and to analyze genotype-phenotype correlations in AS.
methodThe study population consisted of 92 children, between 5 months and 5 years of age, enrolled in a Natural History Study. Each participant was evaluated using the Bayley Scales of Infant and Toddler Development, Third Edition (BSID-III), the Vineland Adaptive Behavior Scales, Second Edition (VABS-II), and the Aberrant Behavior Checklist.
resultsSeventy-four percent had a deletion and 26% had uniparental disomy, an imprinting defect or a UBE3A mutation ("non-deletion"). The mean +/- standard deviation BSID-III cognitive scale developmental quotient (DQ) was 40.5 +/- 15.5. Participants with deletions were more developmentally delayed than the non-deletion participants in all BSID-III domains except in expressive language skills. The cognitive DQ was higher than the DQ in each of the other domains, and the receptive language DQ was higher than the expressive language DQ. In the [ corrected] VABS-II, deletion participants had weaker motor and language skills than the non-deletion participants.
conclusionChildren with AS have a distinct developmental and behavioral profile; their cognitive skills are stronger than their language and motor skills, and their receptive language skills are stronger than expressive language skills. Developmental outcomes are associated with genotype, with deletion patients having worse outcomes than non-deletion patients.
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What OpenQuestion holds
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.