Adaptive Skills of Individuals with Angelman Syndrome Assessed Using the Vineland Adaptive Behavior Scales, 2nd Edition

Gwaltney, Angela; Potter, Sarah Nelson; Peters, Sarika U.; Barbieri-Welge, Rene; Horowitz, Lucia; Noll, Lisa; Hundley, Rachel; Bird, Lynne M.; Tan, Wen‐Hann; Sadhwani, Anjali; Wheeler, Anne

doi:10.1007/s10803-023-06090-8

Cited by 1 publication

(2 citation statements)

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“…Those with a deletion are classified as "deletion-positive" while those with all other molecular subtypes are classified as "deletion-negative". Previous studies have found that individuals with AS are significantly delayed across all domains of development, but they do make slow developmental gains over time [15][16][17][18][19][20][21][22][23]. The severity of the developmental delay varies by molecular subtype; those with a deletion have more severe developmental delay than those without a deletion [16,17,[19][20][21][22][23][24][25]..…”

Section: Introductionmentioning

confidence: 98%

“…Previous studies have found that individuals with AS are significantly delayed across all domains of development, but they do make slow developmental gains over time [15][16][17][18][19][20][21][22][23]. The severity of the developmental delay varies by molecular subtype; those with a deletion have more severe developmental delay than those without a deletion [16,17,[19][20][21][22][23][24][25].. The likelihood and the rate of acquiring the various developmental milestones are dependent on the molecular subtype of the child.…”

Section: Introductionmentioning

confidence: 99%

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Developmental milestones and daily living skills in individuals with Angelman syndrome

Sadhwani,

Powers,

Wheeler

et al. 2024

J Neurodevelop Disord

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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.

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