Provoked seizures and status epilepticus in a pediatric population with COVID-19 disease.

We are reporting 16 pediatric patients (ages 0-18-years-old) who presented to our urban hospital emergency room with seizures and coronavirus disease 2019 (COVID-19) during the surge of the Omicron variant. There was an increased number of pediatric patients with seizures and COVID-19 during this period as compared to prior COVID-19 surges. The 16 patients ranged in age from 3 months to 12 years of age. Five of the 16 patients (31%) had a prior history of epilepsy. Eight patients (50%) presented in status epilepticus, and in six patients (38%) the seizures appeared to have focal features. Fourteen patients (88%) presented with a complex provoked seizure defined as exhibiting either focality, seizure >5 min in length, or more than one seizure in 24 h. We suggest that in the pediatric population, when compared to prior variants of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the Omicron variant is more likely to be associated with neurologic symptoms, including complex provoked seizures.

Reliability and validity of the Thai pediatric quality of life inventory™ 3.0 neuromuscular module.

BACKGROUND: Neuromuscular disorders (NMDs) are chronic illnesses that adversely impact the lives of patients and their families. The Pediatric Quality of Life™ 3.0 Neuromuscular Module (PedsQL™ 3.0 NMM) was designed to assess health-related quality of life (HRQoL) among children with NMDs. The objective of this cross-sectional study is to evaluate the reliability and validity of the PedsQL™ 3.0 NMM Thai version. METHODS: Formal permission to translate the PedsQL™ 3.0 NMM into Thai language was granted by the inventor, and the translation process followed linguistic translation guidelines. The PedsQL™ 3.0 NMM Thai version was administered to children with NMD and their parents/caregivers at the Division of Neurology, Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Re-test was performed within 2-4 weeks after the initial test. RESULTS: One hundred and three children with NMD and their parents or caregivers were enrolled. Internal reliability as measured by Cronbach's alpha was > 0.7 (total score: child α = 0.88, parent α = 0.91). Test-retest reliability showed good agreement with an intraclass correlation coefficient (ICC) of 0.69 and 0.82 for the total score of the child report and the parent report, respectively. The mean (SD) quality of life total score for the child self-report was 74.9 (13.9) among ambulatory patients, and 60.7 (15.2) among non-ambulatory patients (maximum quality of life score is 100). The mean total quality of life score for the parent proxy-report was 70 (14.5) among ambulatory patients, and 55.2 (18.3) among non-ambulatory patients. The child total score was in good agreement with the parent/caregiver total score. CONCLUSIONS: PedsQL™ 3.0 NMM Thai version is a reliable and valid measure of HRQoL in Thai children with NMDs.

Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype.

Case series reports on clinical features of pediatric hereditary neuropathy in Thailand is scarce. Subtype and clinical presentation in childhood-onset CMT differ from adult-onset. The aim of this study is to investigate the CMT phenotype in Thai children. We retrospectively reviewed children diagnosed with CMT who followed up with Pediatric Neurology, Siriraj Hospital from January 1999 to June 2016. CMT subtypes determined by clinical presentation and neurophysiologic studies. Mutation analysis of PMP22 genes was performed in all demyelinating cases. The disease burden was assessed by CMT Neuropathy Score version 2 (CMTNSv2), CMT Examination Score (CMTES) and CMT Pediatric Scale (CMTPedS). 30 patients from 29 families with Hereditary Neuropathies, 25 diagnosed with CMT and 5 with HSAN. 8-year-old was the average age at first medical visit with disease-related problems. Twenty (67%) were male. Twenty-three were sporadic (77%). 16.7% was autosomal dominant and 6.7% was autosomal recessive. Clinical presentations in CMT children were walking difficulty and foot deformities. Nine (36%) CMT patients had demyelinating and sixteen (64%) had axonal. Forty percent had a history of delayed walking after 15-month-old. Foot deformities presented in all CMT patients, and twelve had foot surgery. 2 axonal CMT patients were wheelchair-dependence. Mean (SD) CMTNSv2, CMTES and CMTPedS were 15.44(9), 11.05(7) and 34(4) respectively. Our findings suggest Thai CMT children are predominantly axonal type. Patients with low socioeconomic status and mild symptoms may not seek healthcare. International collaboration in genetic testing is crucial in diagnosis and initiation of clinical trials in future.

Reliability and validity of the Thai version of the Pediatric Quality of Life inventory™ 3.0 Duchenne Muscular Dystrophy module in Thai children with Duchenne Muscular Dystrophy.

BACKGROUND: Duchenne Muscular Dystrophy (DMD) is the most common genetic neuromuscular disorder in children. This chronic illness may impact the physical, family, social and school life of affected children and their families. These impacts can be assessed using a disease-specific measure of health-related quality of life (HRQOL). The Pediatric Quality of Life Inventory™ (PedsQL™) 3.0 DMD Module is designed to assess quality of life in children with DMD. This study aimed to evaluate the reliability and validity of the Thai version of the PedsQL™ 3.0 DMD Module in Thai children aged 5-18 years. METHOD AND MATERIALS: The Thai translation of the PedsQL™ 3.0 Duchenne Muscular Dystrophy Module was performed in accordance with established guidelines using forward-back translation and was approved by the creator of the instrument. The Thai version of the scale was administered to children with DMD and their parents at the neuromuscular clinic at Siriraj Hospital and during the annual DMD Day meeting. Psychometric properties were established, and a re-test was performed within 2-4 weeks. RESULTS: Fifty-six children were enrolled. An acceptable level of internal reliability was achieved, as measured by α > 0.7 (total score: child report α = 0.88, parent report α = 0.92). Test-retest reliability showed good agreement, with the following intraclass correlation coefficients (ICCs) for the total score (calculated using all subscales from the child reports and parent reports): child report ICCs = 0.74 and parent report ICCs = 0.88. The mean total scale score was 66.03 for ambulatory children and 55.87 (P = 0.08) for non-ambulatory children according to child self-reports and 70.01 (ambulatory) and 54.29 (non-ambulatory) (P ≤ 0.01) according to parent proxy reports. The child self-reports were in acceptable agreement with the parent proxy reports for most subscales (ICC range 0.49-0.81). CONCLUSIONS: The PedsQL™ 3.0 DMD Module Thai version is a reliable and valid measure of disease-specific health-related quality of life in Thai children with Duchenne muscular dystrophy.