Erratum: Effects of Cannabidiol on Adaptive Behavior and Quality of Life in Pediatric Patients With Treatment-Resistant Epilepsy.

This corrects the article on p. 547 in vol. 18, PMID: 36062772.

Effects of Cannabidiol on Adaptive Behavior and Quality of Life in Pediatric Patients With Treatment-Resistant Epilepsy.

BACKGROUND AND PURPOSE: Data regarding the effects of cannabidiol (CBD) on the quality of life (QOL) are currently inadequate. We assessed the QOL of pediatric patients with epilepsy who were treated with CBD. METHODS: This prospective, open-label study included pediatric and adolescent patients (aged 2-18 years) with Dravet syndrome or Lennox-Gastaut syndrome. Oral CBD was administered at 10 mg/kg/day. The Korean version of the Quality Of Life in Childhood Epilepsy (QOLCE) questionnaire was administered when CBD treatment began and again after 6 months. Adaptive behavior was measured using the Korean versions of the Child Behavior Checklist (K-CBCL) and the second edition of the Vineland Adaptive Behavior Scales (Vineland-II). RESULTS: This study included 41 patients (11 with Dravet syndrome and 30 with Lennox-Gastaut syndrome), of which 25 were male. The median age was 4.1 years. After 6 months, 26.8% (11/41) of patients experienced a ≥50% reduction in the number of seizures. The total score for the QOLCE questionnaire did not change from baseline to after 6 months of CBD treatment (85.71±39.65 vs. 83.12±48.01, respectively; p=0.630). The score in the motor skills domain of Vineland-II reduced from 48.67±13.43 at baseline to 45.18±14.08 after 6 months of treatment (p=0.005). No other Vineland-II scores and no K-CBCL scores had changed after 6 months of CBD treatment. CONCLUSIONS: CBD is an efficacious antiseizure drug used to treat Dravet syndrome and Lennox-Gastaut syndrome. However, it did not improve the patient QOL in our study, possibly because all of our patients had profound intellectual disabilities.

Efficacy of the Ketogenic Diet for Pediatric Epilepsy According to the Presence of Detectable Somatic mTOR Pathway Mutations in the Brain.

BACKGROUND AND PURPOSE: A multifactorial antiepileptic mechanism underlies the ketogenic diet (KD), and one of the proposed mechanisms of action is that the KD inhibits the mammalian target of rapamycin (mTOR) pathway. To test this clinically, this study aimed to determine the efficacy of the KD in patients with pathologically confirmed focal cortical dysplasia (FCD) due to genetically identifiable mTOR pathway dysregulation. METHODS: A cohort of patients with pathologically confirmed FCD after epilepsy surgery and who were screened for the presence of germline and somatic mutations related to the mTOR pathway in peripheral blood and resected brain tissue was constructed prospectively. A retrospective review of the efficacy of the prior KD in these patients was performed. RESULTS: Twenty-five patients with pathologically confirmed FCD and who were screened for the presence of detectable somatic mTOR pathway mutations had received a sufficient KD. Twelve of these patients (48.0%) had germline or somatic detectable mTOR pathway mutations. A response was defined as a ≥50% reduction in seizure frequency. The efficacy of the KD after 3 months of dietary therapy was superior in patients with detectable mTOR pathway mutations than in patients without detectable mTOR pathway mutations, although the difference was not statistically significant (responder rates of 58.3% vs. 38.5%, p=0.434). CONCLUSIONS: A greater proportion of patients with mTOR pathway responded to the KD, but there was no statistically significant difference in efficacy of the KD between patients with and without detectable mTOR pathway mutations. Further study is warranted due to the smallness of the sample and the limited number of mTOR pathway genes tested in this study.

Reflections on a 38-Day-Old Japanese Encephalitis Patient Born to a Pregnant Traveler in Endemic Area: Strategies for Prevention.

Vaccination against Japanese encephalitis is recommended for long-term travelers to endemic areas; however, the recommendation for pregnant women is controversial. An infant was diagnosed with Japanese encephalitis whose mother moved to an endemic area while pregnant. Preventive strategies are discussed. An infant was diagnosed with Japanese encephalitis whose mother travelled to endemic area while pregnant. As preventive strategies, we suggest vaccination of mother before or during pregnancy before the travel, or application of physical barriers before the child's vaccination.

Disparate treatment outcomes according to presence of pathogenic mutations in West syndrome.

OBJECTIVE: It has been known that West syndrome (WS) patients with an unknown etiology have better clinical outcomes than patients with an identified etiology of any kind. However, after the exponential discovery of genes with mutations responsible for developmental and epileptic encephalopathy (DEE), a significant proportion of patients with a previously unknown etiology have been reclassified as having a genetic etiology, requiring reinvestigation of this concept. Therefore, this study investigated clinical outcomes of WS patients with genetic and unknown etiologies. METHODS: Patients diagnosed with WS without structural or metabolic abnormalities were included in this study. The DEE gene panel, comprising 172 genes, was performed for all patients. All patients were treated using the same treatment protocol for vigabatrin and high-dose prednisolone add-on therapy. Favorable responders were defined as patients who were seizure-free and whose electroencephalogram showed Burden of Amplitudes and Epileptiform Discharges scores of 2 or less. RESULTS: Of the 58 patients included in the study, 17 (29.3%) patients had an identified genetic etiology. There was no significant difference in rates of favorable response at 1 and 3 months after treatment, but significantly higher proportions of patients exhibited favorable responses among those with an unknown etiology at long-term follow-up (41.2% vs. 78.0%, p = .006 at 6 months; 29.4% vs. 65.9%, p = .011 at 1 year; 23.5 vs. 65.9%, p = .003 at 2 years). Moreover, the mental, psychomotor, and social age quotients of the patients with an identified genetic etiology were reduced to a significantly greater degree since diagnosis compared with those of the patients with an unknown etiology. SIGNIFICANCE: WS patients with genetic and unknown etiologies did not initially exhibit significantly different response rates to the vigabatrin and high-dose prednisolone add-on treatment. However, patients with a genetic etiology exhibited significantly higher relapse rates and significantly poorer long-term responses.

Enteral Tube Feeding in Paediatric Mitochondrial Diseases.

We investigated the effects of enteral tube feeding in Korean children with mitochondrial diseases. We performed a retrospective chart review of 68 paediatric patients with mitochondrial diseases on enteral tube feeding at a tertiary referral centre. The outcome of enteral nutrition was evaluated by decrease in gastrointestinal (GI) symptoms, weight gain, and increase in developmental quotient (DQ) among patients with data available. Among 68 patients, 56 (82%) were on gastrostomy and 12 (18%) were on prolonged nasogastric (NG) tube feeding. Decrease of GI symptoms was present in 37 of 48 patients (77%). Weight gain was present in 18 of 64 patients (28%) and was more prominent in the gastrostomy group (n = 17/54, 32%). Increase in DQ was similar between the NG tube and gastrostomy groups (total n = 10/48, 21%). Complications occurred in 42% (n = 5/12) of the NG tube group and 64% (n = 36/56) of the gastrostomy group. They varied in range, from mild to severe. Most complications were minor; there were 5 cases (9%) requiring gastrostomy removal or additional procedure and 2 cases (4%) of gastrostomy-related morbidity. Our results show that in paediatric patients with mitochondrial diseases, enteral tube feeding could help enhance quality of life by relieving GI symptoms, ameliorate growth failure and enhance development.