Journal of Child Neurology最新文献

Motor function, quality of life, and multidisciplinary treatment of patients with spinal muscular atrophy using disease-modifying therapies were evaluated. Assessments were performed according to the patient's functional capacity. Twenty patients were included in the study: 6 nonsitters and 14 sitters. Quality of life was assessed using the Pediatric Quality of Life Inventory 4.0 (PedsQL)-Neuromuscular Module. Low motor function performance and adequate quality of life were identified. Low motor function performance may be related to delayed onset of disease-modifying therapy; however, quality of life is good for a population receiving adequate treatment. Therefore, we conclude that the age at which drug treatment begins influences motor function scores and that adequate drug and multidisciplinary treatment improves the perception of quality of life.

Pathogenic variants in MPDZ are typically associated with congenital hydrocephalus. We report on siblings who present with more complex central nervous system malformations and defects in cardiovascular, ocular, and respiratory systems. Phenotyping of the proband revealed aortic coarctation, bicuspid aortic valve, partial anomalous pulmonary venous return, ventricular septal defect, Dandy-Walker malformation, along with subependymal gray matter heterotopia, megalocornea, and chorioretinal punctate lesions. Prenatal phenotyping of the proband's now deceased brother noted left-sided diaphragmatic hernia, a single cardiac ventricle of right ventricular morphology, aortic and mitral valve hypoplasia with aortic coarctation, ventriculomegaly, and mega cisterna magna. Whole genome sequencing identified a homozygous likely pathogenic canonical splice site variant in MPDZ, c.2650-1G>A in both siblings. These siblings present with features suggesting that MPDZ pathogenicity may be associated with a more complex syndromic neurodevelopmental phenotype with both central nervous system and non-central nervous system features. We speculate that MPDZ influences common morphogenetic pathways underlying these relationships.

Primary headache disorders are common in the pediatric population, and a possible association with obesity has been suggested. In this cross-sectional case-control study data were collected on 137 patients from the Pediatric Headache Outpatient Clinic, Herlev and Gentofte Hospital, Denmark. Patients with primary headache completed questionnaires concerning headache characteristics and underwent a physical examination with height and weight measurements. Headache patients were compared to 122 healthy controls who completed the same examinations. Healthy controls were recruited from schools on Zealand, Denmark. The study did not find any significant differences in body mass index z score, neither between patients with headache and healthy controls, nor between patients with migraine and tension-type headache. The study did not find any association between obesity and primary headache. Future studies on association between obesity and primary headache disorders within the pediatric population are needed.

Autism spectrum disorder (ASD) is a heterogeneous neurobehavioral disorder. Children with ASD often have restrictive diets that can be due to food aversion, sensory sensitivities, ritualistic behavior, or comorbid gastrointestinal issues. Diet and nutritional status play a critical role in the health of neurodevelopment, and the microbiome, and can affect cognition, motor and sensory status, behavior, and sleep. Children with ASD are 5 times more likely to develop eating problems and secondary vitamin and nutritional deficiencies. Such dietary restriction has been causative of vitamin and nutritional deficiencies that can lead to permanent sequelae if not adequately identified and treated. Symptoms of these deficiencies can be subtle and misleading and, thus, underrecognized. This review discusses various symptomatic vitamin and nutrient deficiencies associated with dietary restrictions that can occur in children and adolescents with ASD of which clinicians need to be aware. With treatment, symptoms can be reversible. Without timely treatment, sequelae can be permanent.

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.