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Metabolic Screening in Children with Neurodevelopmental Delay, Seizure and/or Regression
Parvaneh Karimzadeh1,2, Mohammad Mahdi Taghdiri1,2, Ezatollah Abasi3
1Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Insights
Metabolic screening in children with seizures or developmental delays did not show a statistically significant link to these conditions. Further research is needed to understand the causes of these neurological symptoms in early childhood.
Area of Science:
- Pediatric Neurology
- Metabolic Disorders
- Developmental Pediatrics
Background:
- Neurometabolic disorders often manifest in early infancy.
- Seizures and developmental delays are common presenting symptoms.
Purpose of the Study:
- To evaluate the utility of metabolic screening in children presenting with seizures and/or developmental delay.
- To analyze demographic, clinical, and radiological findings in relation to metabolic screening results.
Main Methods:
- A two-year retrospective review of 187 children was conducted.
- Patients presenting with seizure, developmental delay, or regression were included.
- Metabolic screening was performed using tandem mass spectrometry.
Main Results:
- No statistically significant relationship was found between positive metabolic screening results and the presence of seizures, developmental delay, or regression.
- Laboratory findings did not correlate with the clinical presentation of the studied children.
Conclusions:
- Metabolic screening, as performed, did not yield statistically meaningful correlations with seizures or developmental delays in this cohort.
- The study suggests that other factors may be more influential in the presentation of these symptoms.
Objective:
Neurometabolic disorder is one of the important groups of diseases that prominently has presentation early infantile period. In this study, we evaluated the result of metabolic screening of the patient with seizure, developmental delay and/or regression in development, demographic disease clinical and radiological findings on admitted and outpatient visited children.
Materials & Methods:
Two-year retrospective review of 187 children with seizure, developmental delay and/or regression in the Mofid Children Hospital, Tehran, Iran was performed. The diagnosis was based on observation, findings of EEG and history of the patient, besides evaluation of patient milestones. The result of metabolic screening with Tandem mass spectrometry was evaluated using SPSS (ver.18.0) Statistical software.
Results:
Totally, 187 children with seizure, regression and/or developmental delay were evaluated by metabolic screening with tandem mass spectrometry method. The results of laboratory examination had no relationship between positive results of metabolic screening and the mentioned disease. The relations between positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful.
Conclusion:
Positive results of metabolic screening and seizure, regression and/or developmental delay were not statistically meaningful.
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