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Neurodevelopmental profile in Angelman syndrome: more than low intelligence quotient
S Micheletti1,2,3, F Palestra4,5, P Martelli6
1Unit of Child Neuropsychiatry and Early Neurorehabilitation, ASST Spedali Civili, Piazzale Spedali, Civili 1, 25123, Brescia, Italy. serena.micheletti01@universitadipavia.it.
Italian Journal of Pediatrics
|October 23, 2016
Summary
Angelman Syndrome (AS) involves severe neurodevelopmental challenges, including motor, cognitive, and communication impairments. Early identification of neurovisual and behavioral issues is crucial for targeted intervention in AS patients.
Area of Science:
- Neuroscience
- Genetics
- Developmental Pediatrics
Background:
- Angelman Syndrome (AS) is a rare neurodevelopmental disorder caused by UBE3A gene dysfunction.
- The condition affects the maternally inherited allele, impacting neurological development.
- Understanding the comprehensive profile of AS is essential for effective management.
Purpose of the Study:
- To define the detailed neurodevelopmental profile in Angelman Syndrome.
- To assess motor, cognitive, communicative, behavioral, and neurovisual features.
- To utilize standardized instruments for accurate evaluation.
Main Methods:
- Ten subjects (ages 5-11) with molecularly confirmed AS were enrolled.
- A comprehensive assessment protocol included neurological, neurovisual, motor, cognitive, adaptive, communication, and behavioral evaluations.
- Standardized scales such as Griffiths Mental Development Scale and Vineland Adaptive Behavioural Scale were employed.
Main Results:
- All participants exhibited motor function involvement.
- Severe cognitive impairment was observed, with varying profiles across assessments.
- Communicative disabilities, inattention symptoms, and neurovisual impairments (refractive errors, strabismus) were prevalent.
Conclusions:
- AS presents a complex neurodevelopmental profile with significant global functional impairment.
- Intellectual disability is accompanied by neurovisual and behavioral disorders that exacerbate functional deficits.
- Specific rehabilitation programs targeting these multifaceted aspects are necessary for improving outcomes in AS.
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