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The Cerebrospinal Fluid Concentration of Methyltetrahydrofolate and Serum Folate in Children with Developmental
Hamid Nemati1, Anahita Farahzad Boroujeni2, Soroor Inaloo3
1Shiraz Neuroscience Research Center; Division of Pediatric Neurology, Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
Insights
Folate and homocysteine levels in serum, and 5-methyltetrahydrofolate in CSF, are crucial for diagnosing childhood neurodevelopmental disorders. Measuring these biomarkers aids in understanding and potentially improving conditions like epilepsy and developmental delay.
Area of Science:
- Pediatric Neurology
- Nutritional Neuroscience
- Biochemistry
Background:
- Folate is vital for cell metabolism; deficiency is linked to diseases.
- Cerebral folate deficiency is associated with neurodevelopmental disorders in children.
- Understanding folate status in conditions like epilepsy and developmental delay is critical.
Purpose of the Study:
- To investigate the association between serum/cerebral folate deficiency and neurodevelopmental disorders in children.
- To evaluate folate, 5-methyltetrahydrofolate (5MTHF), and homocysteine levels in children with refractory epilepsy, developmental delay, and regression.
- To explore the clinical significance of these biomarkers for improving patient outcomes.
Main Methods:
- A cross-sectional study involving 60 children (6 months-5 years) with idiopathic refractory epilepsy.
- Collected demographic and clinical data.
- Measured serum homocysteine, serum folate, and cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) levels.
Main Results:
- 30% had refractory epilepsy, 18.3% developmental delay, 20% both, and 31.7% epilepsy with regression.
- Brain MRI was normal in 78.3% and atrophic in 21.7% of children.
- Mean serum homocysteine: 9.14 ± 8.58 μmol/L; serum folate: 11.60 ± 6.89 nmol/L; CSF 5MTHF: 69.23 ± 54.16 nmol/L.
Conclusions:
- Serum folate, homocysteine, and CSF 5MTHF measurements are highly important for children with developmental disabilities.
- These biomarkers can aid in the diagnosis and management of neurodevelopmental disorders.
- Further research can elucidate the therapeutic implications of addressing folate-related deficiencies.
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.
