ArticleJournal of neurodevelopmental disorders2024
Developmental milestones and daily living skills in individuals with Angelman syndrome.
Article in Journal of neurodevelopmental disorders, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Review
- 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
- 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
- Prelinguistic Communication Complexity of Children With Neurogenetic Syndromes.Journal of speech, language, and hearing research : JSLHR · 2025Article
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Authors and funding
12 authors.
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Abstract
backgroundAngelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We seek to determine the probability and the age of acquisition of specific developmental milestones and daily living skills in individuals with AS across the different molecular subtypes, viz. class I deletion, class II deletion, uniparental disomy, imprinting defect, and UBE3A variants.
methodsCaregivers participating in a longitudinal multicenter Angelman Syndrome Natural History Study completed a questionnaire regarding the age at which their children achieved specific developmental milestones and daily living skills. The Cox Proportional Hazard model was applied to analyze differences in the probability of achievement of skills at various ages among five molecular subtypes of AS.
resultsAlmost all individuals, regardless of molecular subtype, were able to walk with support by five years of age. By age 15, those with a deletion had at least a 50% probability of acquiring 17 out of 30 skills compared to 25 out of 30 skills among those without a deletion. Overall, fine and gross motor skills such as holding and reaching for small objects, sitting, and walking with support were achieved within a fairly narrow range of ages, while toileting, feeding, and hygiene skills tend to have greater variability in the ages at which these skills were achieved. Those without a deletion had a higher probability (25-92%) of achieving daily living skills such as independently toileting and dressing compared to those with a deletion (0-13%). Across all molecular subtypes, there was a low probability of achieving independence in bathing and brushing teeth.
conclusionIndividuals with AS without a deletion are more likely to achieve developmental milestones and daily living skills at an earlier age than those with a deletion. Many individuals with AS are unable to achieve daily living skills necessary for independent self-care.
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