ICNC Abstracts, ICNC 2018

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LANGUAGE EVALUATION IN GENETIC EPILEPSY FEBRILE SEIZURES + SYNDROME – A PROSPECTIVE CONTROLLED OBSERVATIONAL STUDY
Toral Bhatt, Vrajesh Udani, Megha Shah, Neelu Desai, somini mehta

Last modified: 2018-09-09

Abstract


INTRODUCTION: Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum epilepsy syndrome with heterogenous phenotypes from febrile seizures to severe epilepsies. Language delays noted by one of the authors(VU) even in mild phenotypes prompted us to prospectively evaluate language in GEFS+.

METHODS: After ethics committee approval and informed consent, 30 (3-7years) cases of GEFS+ were recruited when clinically suspected and confirmed by published criteria. Hearing impairment, obvious autism and Dravet Syndrome & variants were excluded. Epilepsy needing > 3 AEDs for control were also excluded. 30 children with non-familial simple febrile seizures (3-7years) were recruited as controls. All 60 children were evaluated for language impairment using the linguistic profile test (LPT), validated in the Indian population. Age appropriate testautism and intellectual deficit were ascertained by age-appropriate tests in those with language impairment. Proportions across multiple groups were compared using the chi-square test/ Fisher’s exact test.  A p value <0.05 was considered significant.

RESULTS: 17/30 cases had specific language impairment (SLI) vs 6/30 in the controls ((χ2 =8.53; p= 0.004). Expressive delay was predominant. Language impairment in cases on 3 AEDs (8/30) was significantly higher than those on 1(9/30) or 2 (13/30) drugs (p=.039). Other clinical variables did not correlate with SLI.

CONCLUSION: GEFS+ has a strong association with SLI. All such children should be proactively evaluated & managed. SLI correlates with the severity of the epilepsy. Genetic studies to determine genotype-phenotype correlations would be useful.


Keywords


GEFS+, Specific Language Impairment, febrile seizure

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