DeCure for Developmental delay and seizures with or without movement abnormalities

In a cohort of 157 children with a single convulsive seizure lasting more than five minutes, the association between treatment delay and response became significant only after 30 minutes when analysed as a single variable (p = 0.003). Major differences in seizure duration were driven by age (p = 0.016) and etiology (p = 0.003). Among 172 children who developed epilepsy before age three, diagnostic delays of at least one month occurred in 70 (41%). A delay was associated with an average 7.4 point drop in the Vineland motor score (p = 0.02), an effect present at diagnosis and persisting for at least three years. Full-scale IQ scores 8–9 years later were lower by up to 14.5 points (p = 0.004) in children with a diagnostic delay, after adjustment for parental education and clinical factors. Delays were less frequent when children had received medical attention for the first seizure (p < 0.0001), had prior neonatal or febrile seizures (p = 0.02), had only convulsions before diagnosis (p = 0.005), or had a college-educated parent (p = 0.01). Factors contributing to delay included parents not recognising events as seizures (N = 47), paediatricians missing or deferring diagnosis (N = 15), neurologists deferring diagnosis (N = 7), and scheduling problems (N = 11).

In a retrospective study of 35 children with infantile-onset seizures, generalised tonic-clonic seizures were the most common type (57%), followed by simple partial (20%) and myoclonic seizures (11.4%). Structural causes were the commonest identifiable aetiology. Developmental delay was the most frequent comorbidity, followed by visual impairment. The authors concluded that seizures in children under two years are potentially preventable through better perinatal care and early identification.

In 177 individuals with CDKL5 deficiency disorder (CDD), a condition defined by refractory infantile-onset epilepsy and global developmental delay, treatment was symptom-based and empiric rather than disease-specific. The four most frequently prescribed anti-seizure medications were broad-spectrum agents used in over 50% of individuals. Among 86 individuals with known response data, a two-week response was achieved in 14–48% and a sustained three-month response in 5–36%. No specific anti-seizure medication was associated with improved seizure control. Cannabis derivatives were tried in over one-third of individuals, and 50% were treated with ketogenic diet. Surgical approaches (vagus nerve stimulators, hemispherectomy, corpus callosotomy) were used in numbers too limited to assess response. Nearly one-third received pharmacologic treatment for sleep disturbances, 13% for behavioural dysregulation and movement disorders, and 43% had gastrostomy tubes. The authors noted that information on medications for sleep, behaviour, and movement disorders is sparse and that the heterogeneity of treatment approaches underscores the need for systematic guidelines.

What is still missing are prospective trials designed to test specific drugs or interventions in well-characterised subgroups, systematic guidelines for CDD and other early-onset epilepsies, and studies that stratify patients by aetiology and developmental stage rather than lumping heterogeneous populations. Funding for such trials, particularly for rare disorders, remains a barrier.