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Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.

ABSTRACT: We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Children with a deletion have lower scores at baseline and slower rate of gaining skills while children with UBE3A variant subtype demonstrated higher scores as well as greater rates of skill attainment in all domains. The developmental profiles of UPD and ImpD were similar.

SUBMITTER: Sadhwani A

PROVIDER: S-EPMC8322148 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature

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Developmental Skills of Individuals with Angelman Syndrome Assessed Using the Bayley-III.

Sadhwani Anjali A Wheeler Anne A Gwaltney Angela A Peters Sarika U SU Barbieri-Welge Rene L RL Horowitz Lucia T LT Noll Lisa M LM Hundley Rachel J RJ Bird Lynne M LM Tan Wen-Hann WH

Journal of autism and developmental disorders 20210130 2

We describe the development of 236 children with Angelman syndrome (AS) using the Bayley Scales of Infant and Toddler Development, Third Edition. Multilevel linear mixed modeling approaches were used to explore differences between molecular subtypes and over time. Individuals with AS continue to make slow gains in development through at least age 12 years of age at about 1-2 months/year based on age equivalent score and 1-16 growth score points/year depending on molecular subtype and domain. Chi ...[more]

PMID: 33517526

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Project description:Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by loss of expression of the maternally-inherited UBE3A on chromosome 15q11.2. In AS due to a chromosomal deletion that encompasses UBE3A, paternal uniparental disomy of chromosome 15, or imprinting defects (ImpD), the SNRPN locus is unmethylated, while in neurotypical individuals, it is ∼50% methylated. We present the developmental profile of two adults with mild AS assessed using standardized behavioral and neurodevelopmental measures. Both had intellectual disability with unusually advanced verbal communication skills compared to other individuals with AS. Methylation of the SNRPN locus was examined using Methylation Specific Quantitative Melt Analysis (MS-QMA) in different tissues at one time point for participant A (22 years) and two time points for participant B (T1: 22 years, T2: 25 years), and these levels were compared to a typical AS cohort. While participant A showed methylation levels comparable to the typical AS cohort, participant B showed methylation mosaicism in all tissues at both time points and changes in methylation levels from T1 to T2. AS should be considered in individuals with intellectual disability and verbal speech who may not have the typical symptoms of AS.

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Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment.

Project description:Angelman Syndrome (AS) is a severe neurodevelopmental disorder due to impaired expression of UBE3A in neurons. There are several genetic mechanisms that impair UBE3A expression, but they differ in how neighboring genes on chromosome 15 at 15q11-q13 are affected. There is evidence that different genetic subtypes present with different clinical severity, but a systematic quantitative investigation is lacking. Here we analyze natural history data on a large sample of individuals with AS (n = 250, 848 assessments), including clinical scales that quantify development of motor, cognitive, and language skills (Bayley Scales of Infant Development, Third Edition; Preschool Language Scale, Fourth Edition), adaptive behavior (Vineland Adaptive Behavioral Scales, Second Edition), and AS-specific symptoms (AS Clinical Severity Scale). We found that clinical severity, as captured by these scales, differs between genetic subtypes: individuals with UBE3A pathogenic variants and imprinting defects (IPD) are less affected than individuals with uniparental paternal disomy (UPD); of those with UBE3A pathogenic variants, individuals with truncating mutations are more impaired than those with missense mutations. Individuals with a deletion that encompasses UBE3A and other genes are most impaired, but in contrast to previous work, we found little evidence for an influence of deletion length (class I vs. II) on severity of manifestations. The results of this systematic analysis highlight the relevance of genomic regions beyond UBE3A as contributing factors in the AS phenotype, and provide important information for the development of new therapies for AS. More generally, this work exemplifies how increasing genetic irregularities are reflected in clinical severity.

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Bayley III in Vietnamese children: lessons for cross-cultural comparisons.

Project description:Background: There are limited psychometric reports of construct validity following adaptation of the Bayley Scales of Infant and Toddler Development 3 rd edition (Bayley III). This paper aims to demonstrate a process of assessing reliability, validity, and gender equivalence of the adapted tool for Vietnamese children. Methods: We evaluated cognitive, fine motor, gross motor, expressive communication and receptive communication subtests of the adapted tool in 267 healthy urban Vietnamese children. Subsets of participants were used to evaluate inter-observer and test-retest reliability. Confirmatory factor analysis (CFA) was carried out to evaluate construct validity and measurement invariance between genders. Results: The adaptation demonstrated good inter-observer and test-retest reliability. CFA indicated that a construct representing a single underlying factor showed the best fit, although relationships between the observed scores and the latent traits underlying the scores varied between age groups. Within age groups, relationships between observed scores and these factors were not significantly influenced by gender. Conclusions: The Vietnamese Bayley III demonstrated good internal consistency and reliability. A latent structure with one general factor and additional residual correlations that change with age is supported by the theoretical understanding of child development. This is the first study to demonstrate gender invariance by age group. This adaptation is suitable for further research studies in urban Vietnamese children, but further work is needed to extend its applicability more broadly across Vietnam.

| S-EPMC6685399 | biostudies-literature

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