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.