Clinical Care Monitoring for patients with Neurodevelopmental disorders administered with Carbamazepine associated with CYP and SULT genes

Carbamazepine is a medication used to treat neurodevelopmental disorders like epilepsy and autism spectrum disorder (ASD). Although pharmacogenomic research may provide useful results, there are not many, particularly for adults. This study aimed to evaluate the therapeutic efficacy of carbamazepine. Carbamazepine steady-state concentrations were determined using a previously designed and validated LC-MS/MS technique. Genomic DNA was extracted. Genetic polymorphisms in their SULT1A1, CYP2D6*4, CYP2D6*10, CYP2C19, and CYP3A5 genes were identified using a conventional PCR. These people's clinical biochemistry test results, treatment plans, and demographic information were gathered. Abnormal biochemical test results were found in some individuals, including hematology, liver enzymes, and insufficient 25-Hydroxyvitamin D3 levels. Regular therapeutic medication monitoring is necessary to customize dosage schedules for pharmacological therapy that is both safe and effective for people with ASD/ID. The Statistical Package for the Social Sciences (SPSS) was used for statistical analysis. This study is one of the first global pharmacogenomics studies to include individuals with ASD or ID. Despite the absence of a correlation between genotyping of drug-metabolizing enzymes and CBZ plasma concentrations, implementation of genotype-guided drug therapy can offer novel contributions to maximize drug efficacy and minimize toxicity, given the limited amount of pharmacogenomics studies on this population for adults.