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

BACKGROUND AND OBJECTIVES

Folate is an important vitamin with a significant role in cell metabolism processes, and its deficiency is associated with several diseases. In addition, cerebral folate deficiency is associated with neurodevelopmental disorders. Studying the association of serum and cerebral folate deficiency with childhood neurodevelopmental disorders such as refractory epilepsy, developmental delay, and regression can be an important step towards the improvement of symptoms of such disorders.

MATERIALS AND METHODS

In this cross-sectional study, from February to October 2018, 60 children aged 6 months to 5 years; known cases of idiopathic refractory epilepsy; were selected randomly. After recording demographic, and clinical characteristics, cerebrospinal fluid (CSF) and blood samples were taken from the patients and sent to a laboratory for measurement of 5-methyltetrahydrofolate (5MTHF), folate, and homocysteine levels.

RESULTS

Sixty patients completed the study, including 33 boys (55%) and 27 girls (45%). Mean ± SD of the studied population was 26.93 ± 19.97 months. Eighteen children (30%) had refractory epilepsy, 11 (18.3%) had developmental delay, 12 (20%) had refractory epilepsy and developmental delay, and 19 (31.7%) had refractory epilepsy and developmental regression. The results of brain magnetic resonance imaging (MRI) were normal in 47 (78.3%) children and atrophic in 13 (21.7%) children. Mean ± SD of serum level of homocysteine was 9.14 ± 8.58 μmol/L, that of folate was 11.60 ± 6.89 nmol/L, and that of 5MTHF was 69.23 ± 54.16 nmol/L.

CONCLUSION

Measurement of serum folate, homocysteine, and CSF level of 5MTHF are of great importance in patients with developmental disabilities.