Abstract
BackgroundAngelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. The aim of the study is to attempt at providing a detailed definition of neurodevelopmental profile in AS, with particular regard to motor, cognitive, communicative, behavioural and neurovisual, features by using standardized instruments.MethodA total of ten subjects aged from 5 to 11 years (4 males and 6 females) with molecular confirmed diagnosis of AS (7 15q11.2-q13 deletion and 3 UBE3A mutation) were enrolled in our study. All of them underwent an assessment protocol including neurological and neurovisual examination and the evaluation of motor (Gross Motor Function Measure Scale), cognitive (Griffiths Mental Development Scale and Uzgiris-Hunt Scale); adaptive (Vineland Adaptive Behavioural Scale); communication (MacArthur-Bates Communicative Development Inventory and video-recordings children’s verbal expression), behavioural aspects (IPDDAG Scale) and neurovisual aspects.ResultsAll children presented motor function involvement. A severe cognitive impairment was detected with different profiles according to the test applied. In all cases, communicative disability (phonemic inventory, word/gesture comprehension and production) and symptoms of inattention disorder were revealed. Neurovisual impairment was characterized by refractive errors, fundus oculi anomalies, strabismus and/or oculomotor dysfunction.ConclusionAS presents a complex neurodevelopmental profile in which several aspects play a negative role in global development leading to a severe functional impairment. Intellectual disability is not the only component because neurovisual functions and behavioural disorders may worsen the global function and are needed of specific rehabilitation programs.
Highlights
Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene
A severe cognitive impairment was detected with different profiles according to the test applied
Neurovisual impairment was characterized by refractive errors, fundus oculi anomalies, strabismus and/or oculomotor dysfunction
Summary
Angelman Syndrome (AS) is a rare neurodevelopment disorder resulting from deficient expression or function of the maternally inherited allele of UBE3A gene. Angelman syndrome (AS) is a rare neurodevelopment disorder with resulting from deficient expression or function of the maternally inherited allele of UBE3A gene on chromosome 15, which plays an important role in the cellular ubiquitin-proteasome pathway and synaptic development [1]. Piazzale Spedali, Civili 1, 25123 Brescia, Italy. Even if research into genotype-phenotype correlations reveals a more severe impairment among children with deletion forms rather than those with other genetic mechanisms [3, 4], all genetic expressions lead to a similar clinical phenotype [5] characterized by developmental delay, movement or balance disorder, specific behavioural characteristics and speech impairment [6]. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated
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