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Quantitative Measurement of Communication Ability in Children with Angelman Syndrome

Quantitative Measurement of Communication Ability in Children with Angelman Syndrome BackgroundSeveral genetic aberrations involving the UBE3A gene result in the expression of the Angelman syndrome (AS) phenotype. In most tissues, both the paternal and maternal alleles (chromosome 15q11.2‐13.1) coding for this protein are expressed equally (Jiang, Lev‐Lehman, Bressler, Tsai & Beaudet, ). In contrast, the neuron expresses the maternal allele preferentially. Therefore, any alteration in the maternal UBE3A results in a non‐functional gene product (Albrecht et al. ). Normal expression of UBE3A results in the production of ubiquitin protein ligase E3 (Ube3a), an enzyme that localizes to pre‐synaptic and post‐synaptic compartments of neurons and is required for normal synaptic function (Gustin et al. ). This altered gene expression leads to clinical manifestations of the syndrome that include severe cognitive and physical impairments, seizure, easily provoked laughter and lack of speech.Most individuals with AS do not develop usable speech and suffer from delays in other forms of communicative ability, such as signs and gestures (Clayton‐Smith ; Jolleff & Ryan ; Penner et al. ). Key factors known to contribute to the delay in communication ability in these individuals include cognitive delays and oral motor dysfunction resulting in the language ability equivalent to that of a 22‐month‐old (Jolleff & Ryan ). Other studies showed http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Applied Research in Intellectual Disabilities Wiley

Quantitative Measurement of Communication Ability in Children with Angelman Syndrome

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References (36)

Publisher
Wiley
Copyright
Copyright © 2018 John Wiley & Sons Ltd
ISSN
1360-2322
eISSN
1468-3148
DOI
10.1111/jar.12305
pmid
27990716
Publisher site
See Article on Publisher Site

Abstract

BackgroundSeveral genetic aberrations involving the UBE3A gene result in the expression of the Angelman syndrome (AS) phenotype. In most tissues, both the paternal and maternal alleles (chromosome 15q11.2‐13.1) coding for this protein are expressed equally (Jiang, Lev‐Lehman, Bressler, Tsai & Beaudet, ). In contrast, the neuron expresses the maternal allele preferentially. Therefore, any alteration in the maternal UBE3A results in a non‐functional gene product (Albrecht et al. ). Normal expression of UBE3A results in the production of ubiquitin protein ligase E3 (Ube3a), an enzyme that localizes to pre‐synaptic and post‐synaptic compartments of neurons and is required for normal synaptic function (Gustin et al. ). This altered gene expression leads to clinical manifestations of the syndrome that include severe cognitive and physical impairments, seizure, easily provoked laughter and lack of speech.Most individuals with AS do not develop usable speech and suffer from delays in other forms of communicative ability, such as signs and gestures (Clayton‐Smith ; Jolleff & Ryan ; Penner et al. ). Key factors known to contribute to the delay in communication ability in these individuals include cognitive delays and oral motor dysfunction resulting in the language ability equivalent to that of a 22‐month‐old (Jolleff & Ryan ). Other studies showed

Journal

Journal of Applied Research in Intellectual DisabilitiesWiley

Published: Jan 1, 2018

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