Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder

Duker, Pieter C.; Driel, S. van; Bercken, J.H.L. van den

doi:10.1046/j.1365-2788.2002.00355.x

Cited by 28 publications

(26 citation statements)

References 20 publications

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“…A developmental age for each subtest in each domain (i.e., receptive, expressive, and written communication skills; personal, domestic, and community daily living skills; interpersonal relationships, play and leisure time, and coping socialization skills; and gross and fine motor skills) is calculated based on the raw scores. The VABS-II has been validated in children and adults with intellectual disabilities and a prior edition has been used in studies with AS patients 7,30,31…”

Section: Methodsmentioning

confidence: 99%

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Gentile

Tan²,

Horowitz³

et al. 2010

Journal of Developmental &Amp; Behavioral Pediatrics

132

150

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Objective-Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy (UPD), 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.Method-The 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.Results-74% had a deletion and 26% had UPD, an imprinting defect or a UBE3A mutation ("non-deletion"). The mean±standard deviation (SD) 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 ‡ Corresponding author and current affiliation: Sarika U. NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author Manuscript 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 VABS-II, deletion participants had weaker motor and language skills than the non-deletion participants.Conclusion-Children 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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Section: Methodsmentioning

confidence: 99%

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Gentile

Tan²,

Horowitz³

et al. 2010

Journal of Developmental &Amp; Behavioral Pediatrics

132

150

View full text Add to dashboard Cite

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“…Decisions that need to be made include the mode(s) of communication that the child will be taught to use and the initial communicative functions/skills to target for acquisition. Duker, van Driel, and van de Bercken (2002) developed a useful tool for gaining stakeholder perspectives in these two critical areas. The unique aspect of this instrument is that it provides opportunities for stakeholders to consider the full range of speech and nonspeech communication modes (speech, gestures, manual sign, picture communication) and a range of communicative functions based on Skinner's (1957) functional classification of verbal behavior (i.e., mands, tacts, echoics).…”

Section: Stakeholder Perspectivesmentioning

confidence: 99%

Communication

Sigafoos

O’Reilly

Lancioni

2009

Applied Behavior Analysis for Children With Autism Spectrum Disorders

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“…One formal study evaluating the adaptive behavior profiles of children and adults with AS (age range ¼ 3-52) found that mean adaptive behavior composite scores fell at a 16-month level [Duker et al, 2002]. Relative adaptive strengths and weaknesses were not reported.…”

Section: Introductionmentioning

confidence: 99%

Cognitive and adaptive behavior profiles of children with Angelman syndrome

Peters

Goddard‐Finegold

Beaudet

et al. 2004

American J of Med Genetics Pt A

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Angelman syndrome (AS) is a neurodevelopmental disorder caused by maternal deficiency of the UBE3A gene that encodes E6-AP ubiquitin-protein ligase. Expression of the UBE3A gene from the maternal chromosome is essential to prevent AS. AS is characterized by severe mental retardation, ataxia, and a defined behavioral pattern characterized mainly by happy/sociable disposition. This study used the Bayley Scales of Infant Development and the Vineland Adaptive Behavior Scales to examine the cognitive abilities and adaptive behavior of children (n = 20) with the four known molecular classes of AS, including patterns of strengths and weaknesses across adaptive behavior domains, and the relationship between adaptive behavior and overall cognitive abilities. Cognitive skills fell within the severe to profound range of mental deficiency. Differences in cognitive skills according to genetic subtype only partially supported previous research and suggest that there is overlap in abilities across genetic subtypes of AS. Adaptive behavior skills were also significantly delayed, with participants demonstrating a significant strength in socialization, and a weakness in motor skills. Strong, positive correlations emerge between cognitive ability scores and adaptive behaviors scores. These results provide further delineation of a cognitive/behavioral phenotype in AS.

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Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder

Cited by 28 publications

References 20 publications

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Communication

Cognitive and adaptive behavior profiles of children with Angelman syndrome

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