Genotype-dependent response to combined levodopa/benserazide and trihexyphenidyl in pediatric genetic dystonia
Abstract
BACKGROUND: Genetic etiologies underlie a substantial proportion of pediatric dystonia, but whether treatment response to combined dopaminergic and anticholinergic therapy varies by genotype remains unknown.
METHODS: This retrospective cohort study analyzed 36 children with genetically confirmed dystonia, classified into three subgroups: PANK2 (n = 7), channelopathies (SCN1A/SCN2A/SCN3A/SCN1B, KCNQ2; n = 6), and other monogenic etiologies (n = 23; 19 distinct genes). All received levodopa/benserazide and trihexyphenidyl combination therapy for 16 weeks. Outcomes included Barry-Albright Dystonia Scale (BADS), Gross Motor Function Measure-88 (GMFM-88), Quality of Upper Extremity Skills Test (QUEST), and Cerebral Palsy Quality of Life Questionnaire (CP-QOL).
RESULTS: Treatment response was genotype-dependent. PANK2 patients showed excellent improvement (ΔBADS -6.6 ± 3.0; ΔGMFM-88 + 49.6 ± 45.8). Other monogenic patients showed moderate improvement comparable to our cerebral palsy cohort (ΔBADS -6.1 ± 1.9; ΔGMFM-88 + 32.2 ± 26.5). Channelopathy patients derived minimal benefit (ΔBADS -3.5 ± 1.2; ΔGMFM-88 + 6.2 ± 2.9; p < 0.001 compared to both other groups). All six patients with status dystonicus (all in the other monogenic group) responded excellently. Adverse event rates were comparable across groups (p = 0.61).
CONCLUSIONS: Genotype determines treatment response to levodopa/benserazide and trihexyphenidyl in pediatric genetic dystonia. PANK2 and most other monogenic…
How strong is the evidence?
Evidence Hub reads this as a cohort study, done in people. Its evidence level is 3 of 5 (Moderate · trial / cohort / secondary analysis). Trials without a large randomized design, cohorts and secondary analyses give moderate evidence. Reported size: 36 participants or records.
Read the paper
Related studies
- Combining in silico and in vitro approaches to identification of potent inhibitor against phospholipase A2 (PLA2)
- In silico and in vitro studies: investigating the chemical composition, DFT, molecular docking, and dynamic simulation of Satureja candidissima (Munby) Briq essential oil as a potential antibacterial agent
- Quercetin combined with ciprofloxacin and gentamicin inhibits biofilm formation and virulence in Staphylococcus aureus
- In silico study of the mechanism of action, pharmacokinetic and toxicological properties of some N-methylanthranilates and their analogs
- Anticonvulsant Effects of Citronellal, Daidzin, and Phytol, Possibly Through GABAA Receptor and Voltage-Gated Sodium Channel Interaction Pathways: In Vivo and In Silico Studies
- 2-Phenylcyclopropylmethylamine (PCPMA) Derivatives as D3R-Selective Ligands for 3D-QSAR, Docking and Molecular Dynamics Simulation Studies
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.