title: Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient.
abstract: BACKGROUND
  Angelman 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.
  
  
  METHODS
  A 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.
  
  
  RESULTS
  All 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.
  
  
  CONCLUSIONS
  AS 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.
authors: Unit of Child Neuropsychiatry and Early Neurorehabilitation, ASST Spedali Civili, Piazzale Spedali, Civili 1, 25123, Brescia, Italy. serena.micheletti01@universitadipavia.it.|Cognition Psychology Neuroscience Lab, University of Pavia, Pavia, Italy. serena.micheletti01@universitadipavia.it.|Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy. serena.micheletti01@universitadipavia.it.
authors: S
authors: S
authors: Micheletti
authors: Unit of Child Neuropsychiatry and Early Neurorehabilitation, ASST Spedali Civili, Piazzale Spedali, Civili 1, 25123, Brescia, Italy.|Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
authors: F
authors: F
authors: Palestra
authors: Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.
authors: P
authors: P
authors: Martelli
authors: Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.
authors: P
authors: P
authors: Accorsi
authors: Unit of Child Neuropsychiatry and Early Neurorehabilitation, ASST Spedali Civili, Piazzale Spedali, Civili 1, 25123, Brescia, Italy.|Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.|Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.
authors: J
authors: J
authors: Galli
authors: Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.
authors: L
authors: L
authors: Giordano
authors: Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.
authors: V
authors: V
authors: Trebeschi
authors: Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.|Unit of Child Neurology and Psychiatry, ASST Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.
authors: E
authors: E
authors: Fazzi
mesh_terms: D017204:Angelman Syndrome / Q000503:physiopathology* / Q000523:psychology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007360:Intelligence; D008297:Male; D009048:Motor Skills; D009483:Neuropsychological Tests; D011795:Surveys and Questionnaires
keywords: Angelman syndrome; Communicative disorders; Intellectual disability; Motor impairment; Neurovisual disorder