ICNC Abstracts, ICNC 2018

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NEUROLOGICAL AND EEG FINDINGS IN ANGELMAN SYNDROME:TALE OF 26 CHILDREN
Jeevan Silwal

Last modified: 2018-09-09

Abstract


Jeevan Silwal,  Arun Grace, Sheela Namboothiri1 Vinayan KP

Division of Pediatric Neurology, Department of neurology, Amrita Institute of Medical Sciences, Cochin, Kerala

Department of Genetics1,Amrita Institute of Medical Sciences, Cochin.

Introduction:

Angelman syndrome is a neurodevelopmental disorder caused by a variety of genetic abnormalities involving the chromosome 15q11-13 region, which is subject to genomic imprinting.

Objective of study:

The aim of the present study was to study the neurological and electrographic features of a cohort of children with genetically proven Angelman Syndrome

Study design and methods:

Patients with genetically proven Angelman Syndrome at Amrita Institute of medical sciences,Kochi, during the period 2006-2018 were retrospectively analyzed.

 

Results:

Twenty-six patients (14males and 12 females) with a genetically proven diagnosis of angelman syndrome were identified during this period .All the children,had global developmental delay and absent/delayed speech at the time of presentation.Seizures were present in 92.3%. The seizure onset was between 6mths-28 mths(mean:17mths). Generalised tonic clonic seizure(GTCS) along with myoclonic jerks was seen most commonly  (37.5%) followed by only GTCS(25%) & only myoclonic jerks(26.9%).EEG showed  frontal delta pattern(30.7%), with notched frontal delta(26.9%). Posterior slow delta  in 15.3%.  19 cases(73%) were on antiepileptics drug(AED) at baseline. At the last follow up, 4 cases(15.3%) were walking independently, 6 cases(23% cases) were walking only with support and 4 cases(15.3%) were speaking only few words.

 

Conclusion: This study highlights the neurological and EEG findings in relatively large cohort of genetically proven angelman syndrome from a single centre.


Keywords


Angelman Syndrome; Epilepsy

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