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Association of epilepsy with different groups of microcephaly
G M Abdel-Salam1, A A Halász, A E Czeizel
1Department of Human Genetics and Teratology, National Center for Epidemiology, Budapest, Hungary. ghasala@hotmail.com
Abstract:
Sixty-six participants (33 males, 33 females) with microcephaly (MC), age range from 2 to 19 years old, were evaluated. MC was classified pathogenetically into isolated MC (IMC) and multiple MC (MMC) and classified etiologically into primary MC (PMC) and secondary MC (SMC). Both IMC and MMC were further classified. Overall prevalence of epilepsy was 40.9%. Furthermore, there was a significantly higher prevalence of epilepsy in males. Main seizure type was generalized tonic-clonic seizures. Generally, learning disability (LD) was diagnosed in 93.9% and profound LD was evident in 43.9% of participants. There was an inverse correlation between severity of epilepsy and IQ but a positive correlation between severity of epilepsy and degree of LD. Differences in the success rate between monotherapy and polytherapy or response to antiepileptic drugs were not observed. Results suggest that epilepsy may be associated with the lower cognitive ability of the participants with microcephaly. The pathogenetic classification proposed is of value in delineating the prevalence of epilepsy and LD in the different varieties of MC as compared with the etiological classification.
Insights
Epilepsy affects over 40% of children with microcephaly (MC), with higher rates in males and a strong link to learning disabilities (LD). Epilepsy severity inversely correlates with IQ but positively with LD degree.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Microcephaly (MC) is a complex condition with varying classifications.
- Understanding the comorbidities of MC, such as epilepsy and learning disability (LD), is crucial for patient management.
Purpose of the Study:
- To determine the prevalence of epilepsy and LD in individuals with microcephaly.
- To explore the relationship between epilepsy severity, cognitive function (IQ), and LD.
- To evaluate the utility of pathogenetic and etiological classifications in understanding MC comorbidities.
Main Methods:
- Sixty-six participants (2-19 years) with microcephaly were evaluated.
- Participants were classified pathogenetically (isolated MC, multiple MC) and etiologically (primary MC, secondary MC).
- Prevalence of epilepsy and LD, seizure types, and correlations with cognitive measures were assessed.
Main Results:
- Overall epilepsy prevalence was 40.9%, significantly higher in males.
- Generalized tonic-clonic seizures were the main seizure type.
- Learning disability (LD) was diagnosed in 93.9%, with profound LD in 43.9%.
- Epilepsy severity showed an inverse correlation with IQ and a positive correlation with LD severity.
- No significant differences in antiepileptic drug response were observed between monotherapy and polytherapy.
Conclusions:
- Epilepsy is a common comorbidity in microcephaly, associated with lower cognitive ability.
- Pathogenetic classification aids in understanding epilepsy and LD prevalence across MC subtypes.
- The findings highlight the significant impact of epilepsy on cognitive function and LD in individuals with microcephaly.