Developmental milestones and daily living skills in individuals with Angelman syndrome.

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  • Additional Information
    • Source:
      Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE
    • Publication Information:
      Publication: <2012-> : London : BioMed Central
      Original Publication: New York : Springer
    • Subject Terms:
      Angelman Syndrome*/physiopathology ; Angelman Syndrome*/genetics ; Angelman Syndrome*/complications ; Activities of Daily Living* ; Child Development*/physiology; Humans ; Female ; Child, Preschool ; Male ; Child ; Adolescent ; Infant ; Longitudinal Studies ; Motor Skills/physiology ; Developmental Disabilities/etiology ; Adult ; Young Adult
    • Abstract:
      Background: Angelman 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.
      Methods: Caregivers 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.
      Results: Almost 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.
      Conclusion: Individuals 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.
      (© 2024. The Author(s).)
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    • Grant Information:
      U54 RR019478 United States RR NCRR NIH HHS; HD061222 Foundation for the National Institutes of Health
    • Contributed Indexing:
      Keywords: Activities of Daily Living; Child development; Developmental disabilities; Intellectual disability
    • Publication Date:
      Date Created: 20240615 Date Completed: 20240615 Latest Revision: 20240619
    • Publication Date:
      20240619
    • Accession Number:
      PMC11179294
    • Accession Number:
      10.1186/s11689-024-09548-7
    • Accession Number:
      38879552