Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin!

Publication date: Mar 02, 2020

The clinical phenotype of autism spectrum disorder and epilepsy (ASD-E) is a common neurological presentation in various genetic disorders, irrespective of the underlying pathophysiological mechanisms. Here we describe the demographic and clinical profiles, coexistent neurological conditions, type of seizures, epilepsy syndrome, and EEG findings in 11 patients with ASD-E phenotype with proven genetic etiology. The commonest genetic abnormality noted was CDKL5 mutation (3), MECP2 mutation (2), and 1p36 deletion (2). The median age of onset of clinical seizures was 6 months (range, 10 days to 11 years). The most common seizure type was focal onset seizures with impaired awareness, observed in 7 (63.6%) patients followed by epileptic spasms in 4 (30.8%), generalized tonic-clonic and atonic seizures in 3 (27.3%) patients each and tonic seizures in 2 (18.2%) patients and myoclonic seizures in 1 (9.1%) patient. Focal and multifocal interictal epileptiform abnormalities were seen in 6 (54.6%) and 5 (45.5%) patients, respectively. Epileptic encephalopathy and focal epilepsy were seen in 7 (63.6%) and 4 (36.4%) patients, respectively. The diagnostic yield of genetic testing was 44% (11 of 25 patients) and when variants of unknown significance and metabolic defects were included, the yield increased to 60% (15 of 25 patients). We conclude that in patients with ASD-E phenotype with an underlying genetic basis, the clinical seizure type, epilepsy syndrome, and EEG patterns are variable. Next-generation exome sequencing and chromosomal microarray need to be considered in clinical practice as part of evaluation of children with ASD-E phenotype.

Karunakaran, S., Menon, R.N., Nair, S.S., Santhakumar, S., Nair, M., and Sundaram, S. Clinical and Genetic Profile of Autism Spectrum Disorder-Epilepsy (ASD-E) Phenotype: Two Sides of the Same Coin! 15367. 2020 Clin EEG Neurosci.

Concepts Keywords
Autism Spectrum Disorder Epilepsy
Chromosomal Microarray RTT
Clonic Syndromes
Demographic Seizure types
EEG Clinical medicine
Encephalopathy Medicine
Epilepsy Health
Epileptic Spasms Myoclonic seizures
Epileptiform Epileptic spasms
Etiology Tonic seizures
Exome Psychiatric diagnosis
Focal Onset Seizures Epileptic seizure
Genetic Generalized tonic–clonic seizure
Genetic Disorders Epileptic spasms
Genetic Testing Electroencephalography
Myoclonic Seizures


Type Source Name
disease MESH Autism Spectrum Disorder
disease MESH Epilepsy
disease MESH genetic disorders
disease MESH seizures
disease MESH epilepsy syndrome
disease MESH spasms
disease MESH abnormalities
disease MESH focal epilepsy

Original Article

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