The Cerebrospinal Fluid Concentration of Methyltetrahydrofolate and Serum Folate in Children with Developmental Delay, Regression, and Refractory Epilepsy

Introduction: Folate is an important vitamin of B complex group with significant role in cell metabolism processes and its deficiency is associated with several diseases. Inaddition, cerebral folate deficiency is associated with neurodevelopmental disorders. Studying the association of serum and cerebral folate deficiency with childhoodneurodevelopmental disorders such as refractory epilepsy, developmental delay and regression can be an important step towards improvement of symptoms of thesedisorders. Thus, we investigated this association in this study. Methods: In this cross–sectional study, ۶۰ children aged ۶ months to ۵ years, known cases of with idiopathic refractory epilepsy were selected randomly from those who referred to Imam Reza clinic and Namazi hospital, Shiraz, Iran, from February until October ۲۰۱۸. After recording demographic (including age and sex) and clinical characteristics (including the medications used and the treatment protocol), CSF and blood samples were taken from patients and sent to laboratory for measurement of ۵– methyltetrahydrofolate (۵MTHF), folate, and homocysteine levels. Results: ۶۰ patients who completed the study, ۳۳ were boy (۵۵%) and ۲۷ were girl (۴۵%). Mean ±SD of the studied population was ۲۶.۹۳±۱۹.۹۷ months. Eighteen children had refractory epilepsy (۳۰%), ۱۱ had developmental delay (۱۸.۳%), ۱۲ had refractory epilepsy and developmental delay (۲۰%), and ۱۹ had refractory epilepsy and developmental regression (۳۱.۷%). The results of brain MRI were normal in ۴۷ children (۷۸.۳%) and atrophic in ۲۱.۷% (N=۱۳). Mean ±SD of serum level of homocysteine was ۹.۱۴±۸.۵۸ μmol/L, that of folate was ۱۱.۶۰±۶.۸۹ nmol/L, and that of ۵MTHF was ۶۹.۲۳±۵۴.۱۶ nmol/L. Conclusion: Measurement of serum folate, homocysteine, and CSF level of ۵MTHF are of great importance in patients with developmental disabilities.

کلیدواژه ها:

Developmental Disabilities ، Disabled Children ، ۵–methyltetrahydrofolate ، Folic Acid.