West syndrome or infantile spasms is one of the most frequent epileptic syndromes in the first year of life. The clinical symptoms of infantile spasms are very different than any other type of seizure because of both the absence of paroxysmal motor phenomena (i.e., as in a convulsion) and the lack of significant duration of loss of consciousness (i.e., as in absence epilepsy). Infantile spasms may lead to misdiagnosis by pediatricians and other primary care providers. We assessed the missed diagnoses prior to the diagnosis of infantile spasms. We hypothesized that a delay in treatment may have consequences on neurologic outcome. We conducted a multicenter, retrospective, observational study to evaluate occurrence of misdiagnosis and its possible consequences. We performed a multivariate analysis to evaluate the risk for the outcome 2 years after the diagnosis of infantile spasms. We included 83 infants over a 5-year period. The majority of consulted physicians (301 of 362) did not suggest any specific diagnosis while the others suggested gastroesophageal reflux (7 %), constipation (7 %), or colitis (3 %). Results indicated that a poor outcome was related to a delay in diagnosis, which was observed regardless of the existence of cognitive involvement prior to the start of infantile spasms (Relative Risk: RR 12.08 [1.52-96.3]). These results highlight the importance of making an early diagnosis of infantile spasms.

Objective: To assess adverse events (AEs) and efficacy of add-on cannabidiol (CBD) with a slower titration protocol in pediatric clinical practice. Methods: We conducted a prospective, open-label, multicenter study in seven French reference centers for rare epilepsies. Patients had slow titration to reach a target dose of 10 mg/kg/day within at least 1 month and then gradually increased to a maximum dose of 20 mg/kg/day. We analyzed AEs and efficacy at M1 (month 1), M2, and M6, comparing two sets of subgroups: Dravet syndrome (DS) vs. Lennox-Gastaut (LGS) and patients with clobazam (CLB+) vs. patients without (CLB−). Results: One hundred and twenty-five patients were enrolled (62 LGS, 48 DS, 5 Tuberous sclerosis, and 10 other etiologies). Median concomitant antiepileptic drugs (AEDs) was three (25th percentile: 3, 75th percentile: 4). Patients received a dose of 10 (10–12), 14 (10–20), and 15.5 mg/kg/day (10–20) at M1, M2, and M6, respectively. Twenty-six patients discontinued CBD, 19 due to lack of efficacy, 2 due to AEs, 4 for both, and 1 had a sudden unexpected death in epilepsy. AEs were reported in 61 patients (48.8%), mainly somnolence ( n = 26), asthenia ( n = 20), and behavior disorders ( n = 16). Abnormal transaminases (≥3 times) were reported in 11 patients receiving both valproate and clobazam. AEs were significantly higher at M2 ( p = 0.03) and increased with the number of AEDs ( p = 0.03). At M6, total seizure frequency change from baseline was −41% ± 37.5% (mean ± standard deviation), and 28 patients (37.8%) had a reduction ≥50%. AE and efficacy did not differ between DS vs. LGS and CLB+ vs. CLB– patients. Significance: A slower titration of CBD dose delivered better tolerance with comparable efficacy to previous trials. Concomitant CLB did not increase efficacy rates but in a few cases increased AEs. This slow titration scheme should help guide clinicians prescribing CBD and allow patients to benefit from its potential efficacy.

These data suggest that gene screening should be considered in early-onset moyamoya, even in the absence of obvious signs of RASopathy.

A B S T R A C TPurpose: Children with complex congenital heart disease (CHD) experience high incidence of perioperative seizures. Population-based studies also report high epilepsy co-morbidity in CHD. Given the increasing survival of patients with CHD and the interference of seizures and epilepsy with the long-term outcomes, characterizing them in this population is of high relevance. This study investigated the incidence and risk factors of perioperative clinical seizures (CS) and epilepsy in a prospective cohort of children with complex CHD who underwent cardiac surgery. Methods: We included 128 consecutive children with CHD, followed for at least two years at the neurocardiac clinic of Montreal's Sainte-Justine University Hospital Center. We collected perinatal, surgical, critical care and clinical follow-up information and performed logistic regression to reveal risk factors of CS and epilepsy. Results: Ten patients (7.8%) experienced perioperative CS. Four of them (40%) developed epilepsy. The incidence of epilepsy was therefore 3.1%. Higher surgical complexity scores, delayed sternal closure, extracorporeal membrane oxygenation (ECMO) use, longer intensive care and hospital stay were associated with CS. ECMO use and hospital stay were also associated with epilepsy. Nine (90%) patients with CS had brain injuries: five strokes, one white matter and three hypoxic-ischemic injury (HII). All patients with HII developed epilepsy, which became intractable in one of them. Conclusion: Our study reports high incidence, surgical risk factors and brain injury patterns underlying CS and epilepsy in CHD. Further studies are needed to investigate how epilepsy interferes with neurodevelopment and quality of life in CHD.