Journal of Child Neurology最新文献

Dravet syndrome (DS) is a developmental and epileptic encephalopathy often resulting from haploinsufficiency of the voltage-gated sodium channel (VGSC) gene SCN1A located on chromosome 2q24.3. Although single-nucleotide changes account for the majority of cases, rare cases are due to 2q24.3 microdeletions involving SCN1A. The 2q24.3 region surrounding SCN1A contains a cluster of VGSC genes including SCN2A, SCN3A, SCN7A, and SCN9A. Prior publications reported larger 2q24.3 deletions affecting multiple VGSC genes being associated with a more severe phenotype. Consensus recommendations for epilepsy therapies do not exist for DS patients with 2q24.3 deletion involving other VGSC genes. To address this gap, we qualitatively assessed the therapy response in 5 patients with 2q24.3 microdeletions. We found evidence of efficacy for valproic acid, clobazam, and cannabidiol whereas levetiracetam and phenobarbital were not beneficial. Additional studies are necessary to examine the efficacy of fenfluramine and the ketogenic diet.

BackgroundTic disorders are one of the common neurodevelopmental disorders seen worldwide. In Nepal, however, data on it are lacking. Hence, this research aimed (1) to screen for tics among school-going children, (2) to estimate the approximate prevalence of tics in school-going children, and (3) to explore the sociodemographic profile of children with tics.MethodsThis study is a cross-sectional and descriptive study. Five schools based on a simple random sampling technique were selected. Children from grades 1 to 8 of the selected schools were recruited for the study. Semi-structured proforma and the Motor or Vocal Inventory of Tics (MOVeIT-14) screening tool were used to collect data.ResultsOf 1116 children, 633 responded, resulting in a response rate of 56.72%. Thirty-two children (n = 32) screened positive for tics, yielding an estimated prevalence of 5.1%. The mean age of children who screened positive was 10.92 ± 2.60 years. The male-to-female ratio was 1.2:1. A family history of tics was reported in 28.1% (n = 9) of the tic-positive cases. No significant correlation was found between age and the tic screening score. Although boys had a higher mean screening score (18) compared with girls (14), the difference was not statistically significant. Children with a positive family history of tics had higher screening scores than those without.ConclusionA significant number of children in the community were found to have tics, with a slight predominance among males. Children with a positive family history showed higher tic severity scores.

Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a genetic condition associated with complex neurologic symptoms, including epilepsy. Ketogenic diet therapy (KDT) is considered the standard treatment for GLUT1DS. This retrospective study identified trends in treatment with KDT for patients with GLUT1DS to optimize the current standards of care.MethodsA retrospective chart review was performed to identify patients at a pediatric institution with GLUT1DS receiving the ketogenic diet.ResultsTwelve patients were identified; 10 met inclusion criteria. A classic ketogenic diet (cKD) with a 3:1 ratio provides effective support for patients in this sample.ConclusionResults of the study suggest that a 3:1 ratio of KDT, which may increase tolerance and adherence and reduce adverse effects, may be acceptable in patients with GLUT1DS.

IntroductionOptic neuritis (ON) is an acquired demyelinating syndrome and the most common cause of acute optic nerve inflammation in children and adults. This study describes the clinical and diagnostic features, visual outcomes, and relapse risk of children presenting with their first ON episode.MethodsWe prospectively identified 50 children presenting with ON as their first demyelinating event. Patients underwent both serum myelin oligodendrocyte glycoprotein (MOG) and aquaporin-4 (AQP4) antibody screening (n = 42) or were diagnosed with AQP4-seropositive neuromyelitis optica spectrum disorder (NMOSD) without MOG testing (n = 8). We analyzed demographics, antibody status, magnetic resonance imaging (MRI) findings, treatments, relapses, and visual disability.ResultsSubjects were stratified by diagnosis into idiopathic ON (n = 6), MOG antibody disease (n = 20), multiple sclerosis (n = 11), and NMOSD (n = 13). Females comprised 66% of the cohort. The mean age at onset was 12 years, and Black patients represented 48% of the cohort. Decreased visual acuity was nearly universal (96%). The logMAR of the worst eye at onset was most severe in NMOSD (3.1) and mildest in idiopathic ON (1.3). Ninety percent received intravenous steroids as acute treatment. Visual recovery varied by diagnosis, with mean improvement of 1.5 logMAR. Half (n = 25) experienced relapses, most commonly ON (19 of 25) or longitudinally extensive transverse myelitis (9 of 25). NMOSD patients had the highest relapse rates and poorest visual outcomes.ConclusionPediatric ON often leads to chronic demyelinating conditions. Visual recovery is overall good, but patients with NMOSD have worse visual outcomes and higher relapse rates.

This secondary analysis examined the association between preexisting mental health conditions and clinical recovery trajectories in adolescents with concussion. Adolescents (13-17; n = 1238) completed clinical assessments (Post-Concussion Symptom Inventory [PCSI] ≤48 hours postinjury; PCSI/ Pediatric Quality of Life [PedsQL] for 3 months) and were categorized into control, anxiety, depression, or combined anxiety/depression groups. Acute outcomes were analyzed using analysis of variance or χ², whereas linear and logistic regression analyzed recovery trajectories. A main effect of group was present for acute symptom scores (P = .03), but post-hoc testing revealed no significant comparisons. Main effects of group and time were observed for PCSI and PedsQL outcomes (P < .007), but interaction effects were nonsignificant. The combined anxiety/depression group reported more symptoms, worse quality of life, and had greater odds of experiencing persistent postconcussion symptoms (defined as ≥3 new/worse symptoms at 4 weeks; OR = 2.31, 95% CI = 1.18-4.67, P = .02) in univariate models. However, multivariable models found no association between preexisting mental health conditions and the presence of PPCS (P = .62). Preexisting mental health conditions were associated with similar longitudinal trajectories but higher symptom and lower quality of life scores overall, highlighting their importance in adolescent concussion management.

Moyamoya disease is characterized by progressive stenosis of the terminal internal carotid arteries and their branches with secondary angiogenesis of lenticulostriate collateral vessels. Although surgical revascularization decreases the risk of ischemic and hemorrhagic strokes, there remains little evidence demonstrating safety and efficacy of nonsurgical interventions in pediatric moyamoya. Recent data support the use of cilostazol in adult moyamoya, but cilostazol safety and efficacy in pediatric moyamoya remains unknown. We report the case of a 9-year-old girl diagnosed with MMD following a large right MCA stroke who experienced frequent transient neurologic events consisting of dysarthria and left-sided drooling after pial synangiosis. After unsuccessful trials of antiseizure medications and blood pressure augmentation, the events ultimately abated after the addition of cilostazol. Episodes recurred but again subsided after cilostazol dosing adjustment. This case suggests that cilostazol may be safe and effective for management of pediatric MMD and highlights the need for further investigation.

Nonketotic hyperglycinemia (NKH) is a rare genetic disorder with a global incidence of 0.4 to 1.3 per 100 000 live births with regional variation. We sought to estimate the regional birth incidence and describe the clinical and genetic features of NKH in central and Appalachian Kentucky. Fifteen patients met standard diagnostic criteria for NKH; 13 were born in Kentucky, yielding an estimated birth incidence of 2.53 per 100 000 live births (13/513 419; 95% CI 1.35-4.33). Of those with available genetic data (n = 9), 8 carried GLDC variants, with 6 having the c.1166C>T (p.A389V) variant. We found a higher incidence of NKH in central and Appalachian Kentucky compared to global estimates, with local enrichment of the p.A389V variant. These findings highlight the need for clinician awareness and further research to inform regional screening and management.

Transition of care (TOC) poses challenges across medical subspecialties, each with distinct patient needs. Understanding patient and caregiver awareness and readiness within specific patient populations is essential for developing effective population-specific TOC programs. Limited data exist describing TOC readiness in patients with neuroimmune disorders. We conducted a cross-sectional survey on youth with neuroimmune disorders and their caregivers assessing TOC readiness, challenges, and support needs. Thirty-one participants completed the survey (39% Hispanic, 29% Caucasian, 19% African American). Respondents with MOG antibody-associated disease (29%), multiple sclerosis (26%), and anti-N-methyl-d-aspartate (anti-NMDA) receptor encephalitis (10%) were represented in this study. Eighty-three percent of caregivers reported their child was not ready for transition, whereas 32% of patients described feeling curious about TOC. The primary concern for both patients (53%) and caregivers (65%) was that adult providers would be unfamiliar with the patient's history. The most common patient-perceived readiness gaps included lack of knowledge of clinic information (81%), not having an emergency plan (77%), and poor understanding of insurance changes (81%). The most frequent patient-reported facilitators were access to an educational curriculum (35%) or a dedicated transition appointment (35%). More than half of patients (52%) and caregivers (61%) preferred a continuity-provider TOC model, and most supported participation in TOC support groups (55% of patients, 87% of caregivers). To conclude, significant gaps exist in TOC readiness among the neuroimmune disorder population. Key facilitators include structured education, provider continuity, and support programming-elements that could strengthen preparedness, reduce care disruption, and increase confidence in navigating adult health care systems.

BackgroundAutoimmune encephalitis in children is a severe immune-mediated disorder with significant neuropsychiatric manifestations and long-term morbidity. Despite advances in immunotherapy, poor short-term prognosis remains a challenge, necessitating identification of prognostic factors for optimized interventions.MethodsThis retrospective study analysed 96 pediatric autoimmune encephalitis patients from a single center. Demographic, clinical, and laboratory data were compared between good (n = 60) and poor (n = 36) prognosis groups. Statistical analyses included univariate tests, multivariate logistic regression, and receiver operating characteristic curve evaluation.ResultsUnivariate analysis identified autonomic symptoms, status epilepticus, impaired consciousness, infection, fever, abnormal MRI, and elevated cerebrospinal fluid cell counts as significant predictors. Multivariate analysis confirmed MRI abnormalities (odds ratio [OR] = 4.39), infection (OR = 3.03), autonomic symptoms (OR = 4.09), disorders of consciousness (OR = 4.29), and fever (OR = 3.69) as risk factors. The combined receiver operating characteristic model achieved an area under the curve of 0.816 (sensitivity 72.22%, specificity 83.33%), outperforming individual predictors.ConclusionMultivariate analysis identified abnormal MRI findings, infections, fever, autonomic symptoms, and impaired consciousness as independent predictors of poor short-term prognosis in children with autoimmune encephalitis.