Prevalence, clinical characteristics and outcomes of seizures in neurofibromatosis type 1: A systematic review and single arm meta-analysis.
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BACKGROUND: Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome that predisposes patients to seizures. We aimed to estimate the prevalence, clinical characteristics and outcomes of seizures in NF1 patients, and analyze prognostic factors of seizures. METHODS: Systematic searches were conducted in the PubMed, EMBASE, Web of Science, Scopus, Cochrane Library, and grey literature databases from inception to April 2024. We identified observational studies that included NF1 patients with seizures. Clinical characteristics of seizures were summarized and meta-analyses of prevalence and outcomes were conducted. We assessed publication bias using funnel plots and conducted sensitivity analysis to assess stability and reliability. Individual patient data were analyzed to evaluate prognostic factors. RESULTS: Fourteen studies were identified from 1021 records. A total of 337 patients with seizures from 4946 NF1 patients were included. Meta-analysis indicated the overall prevalence of seizures in NF1 patients was 8.1 % (95 % CI= 5.9-10.3 %). The first seizure usually occurs in childhood, with a median age range of 3.5-12.0 years. Focal seizures (54.2 %) and generalized tonic-clonic seizures (16.8 %) were the most common types. The seizure freedom rate was 68.5 % (95 % CI= 57.5-79.5 %), mostly with one or two antiseizure medications. Cortical malformation/hippocampus sclerosis emerged as an independent risk factor for persistent seizures (OR=5.19, 95 %CI=1.27-21.18, P=0.02). CONCLUSION: Though NF1 patients face a higher risk of seizures than the general population, the majority achieve seizure freedom. Patients with cortical malformation or hippocampus sclerosis were at a higher risk of persistent seizures.