MECP2 Dysautonomia Phenotypes in Boys.

BACKGROUND: Recognizing and identifying dysautonomia would facilitate the diagnosis and management of MECP2 mutations in boys. We aimed to explore the prevalence of dysautonomia symptoms in boys with MECP2 mutations. METHOD: We conducted a national, retrospective study (2000-2020) of medical records from boys who were aged less than 18 years when diagnosed with a pathogenic, or likely pathogenic, variant in the MECP2 gene. We systematically looked for dysautonomic signs in the cardiovascular, respiratory, gastrointestinal, and thermoregulatory systems. RESULTS: Nine of the 13 cases had at least one system affected by dysautonomia. Two patient subgroups were identified: (1) patients who were ambulatory with intellectual or learning disabilities (n = 6/13 cases) and (2) patients who were unable to walk normally with severe encephalopathy (n = 7/13 cases). Dysautonomic signs were found in both subgroups: 7 of seven patients in the severe array subgroup and 2 of six in the mild array subgroup. CONCLUSIONS: These results support MECP2 testing and dysautonomia investigations in both young males who present with encephalopathy and those with intellectual disabilities.

Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study.

OBJECTIVE: This study was aimed to determine the rate, timing, and risk factors of acute recurrence of seizures in the children admitted for nonfebrile seizure in the emergency department (ED). METHODS: This multicenter prospective study was conducted in the ED of three hospitals. All consecutive visits of children aged 28 days to 15 years who attended the ED for a nonfebrile seizure for 1 year were included in the study and prospectively followed. The rate of acute seizure recurrence within 24 hours was evaluated and association with potential risk factor was tested. Timing of seizure recurrence was assessed. RESULTS: A total of 181 ED visits were enrolled. Overall, 19.9% (36/181) of children presented acute seizure recurrence, 50% of seizure recurrence occurred during the 2 hours after ED arrival and 70% within 6 hours. Multivariable analysis showed that age of <5 years and seizure recurrence in the emergency department were associated with a significant increase in acute recurrence risk. CONCLUSION: Early seizure recurrence is common in children with nonfebrile seizure, with younger children at higher risk. Based on these findings, acute recurrence risk after a nonfebrile seizure should justify to observe the children admitted for a nonfebrile seizure in the ED, especially young children. A larger study should analyze other risk factors associated with increased risk of acute seizure recurrence and help ED management.