Christianson syndrome is a rare X-linked disorder characterized by intellectual and developmental disability, epilepsy, and regressions, requiring lifelong care. This study explored family experiences and treatment priorities from the caregiver perspectives. Qualitative semistructured interviews were conducted with 18 caregivers of 20 patients (aged 4-29 years) to discuss symptom onset, diagnosis, progression, coping, and priorities. Transcripts were thematically analyzed. Initial symptoms included seizures, delayed developmental milestones, and lack of speech. Caregivers described sadness, anger, and feeling overwhelmed after diagnosis. Concerns included seizures, communication challenges, and sleep disruptions. Only half reported robust support networks. Coping strategies included exercise, work, and partner support. Despite challenges, caregivers highlighted the happy, affectionate demeanors of the children. Caregivers emphasized connecting with other families and prioritized treatments for seizures, communication, and preventing regressions. These findings reflect caregiver experiences, enhance knowledge of Christianson syndrome impacts, and highlight common challenges for families managing disabilities.

PurposeAtypical teratoid/rhabdoid tumor (AT/RT) is a kind of central nervous system malignant tumor in children. In this study, we aimed to develop a practically clinical nomogram and risk grouping system to predict 1-year overall survival for patients with atypical teratoid/rhabdoid tumor.MethodsThe nomogram was constructed based on the pediatric tumor registry of Xinhua Hospital affiliated to Shanghai Jiaotong University School of Medicine. Fifty-four information-integrated patients with atypical teratoid/rhabdoid tumor were included from the database. Cox regression analyses were used to select independent prognostic factors. Based on the fitted multivariate Cox regression model, a nomogram of 1-year overall survival for atypical teratoid/rhabdoid tumor patients was generated. Moreover, the nomogram was validated by assessing its discrimination and calibration.ResultsIn these patients, age at diagnosis, the extent of tumor resection, radiotherapy, and chemotherapy were included in the multivariate Cox regression model. Based on this multivariate Cox regression model, a nomogram of 1-year overall survival for atypical teratoid/rhabdoid tumor patients was generated. The nomogram had good discrimination (the concordance index was 0.781) and calibration curves showed no deviation from reference lines. Decision curve analysis demonstrated this nomogram was useful for clinical practice. The risk grouping system was built based on nomogram-derived risk scores, which could classify patients into 3 risk groups. Compared with the low-risk group, the risk of 1-year death was significantly higher in the intermediate-risk group (hazard ratio = 1.42, 95%, confidence intervals = 0.49-4.11) and high-risk group (hazard ratio = 9.78, 95% confidence intervals = 3.53-27.1).ConclusionA nomogram and risk grouping system were built to predict for the 1-year overall survival of atypical teratoid/rhabdoid tumor patients. The nomogram could facilitate a personalized prognostic evaluation for atypical teratoid/rhabdoid tumor patients and help medical practitioners make better treatment.

Infantile epileptic spasms syndrome is an epileptic encephalopathy with poor prognosis. To describe clinical features and predictors of unfavorable outcomes of infantile epileptic spasms syndrome in a multiancestry cohort. Retrospective cross-sectional chart review analysis at a single tertiary pediatric hospital in 56 patients with infantile epileptic spasms syndrome. Fifty-nine percent were males. Most patients (57%) were from the Middle East North African region. The mean age at onset of spasms was 6.6 months (±3.5 mo). At presentation, 80% of patients had a preexisting neurologic disorder, an abnormal development (66%), and/or an abnormal neurologic examination (73%). Hypsarrhythmia on electroencephalography (EEG) was reported in 55% of patients. Etiology was identified in 75%. Abnormalities on neuroimaging were common (70%), and 54% had abnormal genetic testing. The preferred first-line treatment was vigabatrin (66%) followed by high-dose oral steroids (16%). Only a minority (∼30%) experienced complete resolution of their epileptic spasms/hypsarrhythmia by 2 weeks. At the last follow-up, 84% of patients had an abnormal development and 40% were still on antiseizure medications. Comorbidities were common (75%). The majority of patients had unfavorable outcomes, including abnormal development (84%) and/or drug-resistant epilepsy (45%). Preexisting abnormal development/neurologic examination or neurologic conditions, perinatal risk factors, neuroimaging abnormalities, and an identified etiology were associated with increased odds ratios for unfavorable developmental outcomes or drug-resistant epilepsy. Clinical features and outcomes of infantile epileptic spasms syndrome in this multiancestry cohort confirms findings of previous epidemiologic studies, recognizes some differences, and highlights risk factors that can be used for early identification of patients with predicted unfavorable outcomes.

Vitamin B deficiency is a well-known cause of neurologic symptoms, prompting routine measurement in patients with neurologic conditions. However, elevated B levels are also observed in some cases. Recent studies suggest a potential link between high B levels and neurologic or neurodevelopmental disorders. This study aims to evaluate vitamin B levels in children with neurologic disorders compared with those in general pediatric populations. This single-center retrospective study analyzed pediatric patients' vitamin B levels between 2000 and 2023. Exclusion criteria included incomplete data and vitamin supplementation. Patients were grouped based on B levels (<200 pg/mL, 201-660 pg/mL, 661-1000 pg/mL, > 1000 pg/mL). Age, gender, and diagnoses were assessed, focusing on patients with elevated B levels (>660 pg/mL) in the neurology clinic. Vitamin B levels were measured using Roche Cobas e 601 analyzers. Over 3 years, 4142 pediatric clinic and 2638 pediatric neurology patients were reviewed. Elevated B levels were more frequent in the neurology clinic. Patients with elevated B levels (n = 338) had a mean age of 8.67 months and a mean B level of 894.7 pg/mL. Of 137 patients with follow-up B measurements, 40.1% normalized, while 17.5% remained > 1000 pg/mL. The most common diagnosis in patients with persistently high B levels was epilepsy, followed by prematurity, cerebral palsy, autism, intellectual disability, and language delay. Elevated vitamin B levels were associated with pediatric neurologic disorders, particularly epilepsy. Further research is needed to clarify the mechanisms and clinical implications of this finding.

Early treatment in spinal muscular atrophy is widely recognized as critical for improving neurologic and respiratory outcomes, especially in presymptomatic infants. With the expansion of newborn screening, more infants are now diagnosed presymptomatically. Currently, there are no established treatment guidelines for preterm infants with spinal muscular atrophy, with only anecdotal reports available. Additionally, there is limited knowledge regarding the safety and efficacy of the different treatments in preterm infants. In Israel, although a newborn screening program for spinal muscular atrophy is not yet implemented, a significant portion of the population participates in genetic carrier screening. Here, we present a case of presymptomatic preterm twins, born at gestational age of 32 + 2 weeks, birth weights of 1855 and 1740 g, respectively. They were treated with risdiplam followed by onasemnogene abeparvovec at a gestational age of 35 and 43 weeks, respectively. This case adds to the limited data on treatment options for preterm infants.

ObjectiveThis study aimed to investigate calcitonin gene-related peptide (CGRP) levels in children and adolescents with primary headache.MethodsAll patients underwent blood sampling regardless of their headache state (ictal or interictal) on the day of examination. The patients were grouped based on their headache diagnosis (migraine, tension-type headache, or mixed).ResultsNinety-two patients aged 5-18 years were included (29 diagnosed with migraine and 31 with tension-type headache). In the comparisons between the patients with migraine and the patients with tension-type headache, interictal CGRP levels in blood from the cubital vein showed no significant difference. Ictal samples were collected in the tension-type headache group only, and no significant difference was observed between the ictal and interictal phases. Variables such as headache diagnosis, sex, age, family history with primary headache, headache frequency, time since last headache, medication usage, and body mass index did not significantly influence CGRP levels.ConclusionNo significant difference in interictal CGRP levels between patients with migraine and patients with tension-type headache were found. In patients with tension-type headache, there were no significant differences between CGRP levels in the ictal and interictal state. We were not able to draw conclusions about differences in ictal levels of CGRP in patients with migraine compared with patients with tension-type headache, or in differences between ictal and interictal levels in patients with migraine. Future studies should aim to replicate these results in a larger study cohort.

This retrospective study enrolled consecutive children aged 2-18 years with developmental and/or epileptic encephalopathy with continuous spike and wave during sleep (D)EE-SWAS who received oral high-dose diazepam therapy. Their clinical, electroencephalographic (EEG), and radiologic data were reviewed and summarized. Thirty-five eligible patients were identified. The mean age at EEG diagnosis of (D)EE-SWAS was 6 years. Focal seizures (57.1%) were most commonly noted at the time of diagnosis. A definite language regression was reported in 10 patients (28.6%). The etiologies included structural (34.3%), genetic (22.9%), and unknown (42.9%). The mean spike-wave index at the time of high-dose diazepam initiation was 88.9% (standard deviation 11%). Sixteen patients (45.7%) showed ≥50% reduction in spike-wave index following the test doses of high-dose diazepam. Most patients tolerated the therapy well. Nonstructural etiology was associated with a good EEG response (β = 2.61,  = .008). The mean duration of follow-up after EEG diagnosis was 6.1 years. All patients were seizure free at last follow-up except one. Persisting SWAS (spike-wave index  > 50%) at last follow-up was noted in 12 patients (34.3%). This single-center small retrospective study showed that nearly half of the patients showed ≥50% reduction in spike-wave index following the test doses of high-dose diazepam in patients with (D)EE-SWAS.

Becker muscular dystrophy is an infrequent genetic disorder that results from dystrophin gene mutations. Cardiac involvement is a primary manifestation. The time of onset of underlying cardiac functional abnormalities remains largely undefined. This study involved 17 pediatric patients with Becker muscular dystrophy who visited our hospital between January 1, 2002, and December 31, 2018, and underwent echocardiographic imaging analysis. Another set of 17 controls matched for age and sex to the patient cohort was chosen for comparison. Patients with Becker muscular dystrophy demonstrated a decline in echocardiographic measures, especially deformation parameters, compared with the control group. This alteration is influenced by age. Our findings suggest that early echocardiographic monitoring may help identify subclinical cardiac dysfunction, particularly in younger patients (<10 years of age).

IntroductionPediatric traumatic brain injuries arising from natural disasters pose a significant long-term risk, particularly in the vulnerable population of children in high-stress situations. We aimed to gain insights into this matter to increase its understanding and potentially address health disparities with evidence.MethodsWe searched the 5 databases following Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines to identify publications discussing traumatic brain injuries in children in the context of natural disasters. Of 32,785 records, only 9 met criteria for inclusion. We extracted and analyzed clinical data relevant to our topic.ResultsTraumatic brain injuries are one of the most prevalent injuries found in this pediatric population accountable for the major risk factor for morbidity and fatalities, followed by orthopedic injuries and infected wounds. Males and females were affected equally, with a mean age around 9.8 years. Mortality rates varied but were lower than 16%, contingent on the severity of the disaster and the level of preparedness of the affected area.ConclusionsHead injuries are one of the most prevalent pediatric injuries in disasters. However, there is limited evidence-based information regarding best strategies and care for children experiencing traumatic brain injuries in this context. This study suggests the need of a concerted effort to strengthen preparedness for natural disasters to ultimately foster a safer world for the children.

Biallelic pathogenic or likely pathogenic variants in Transport and Golgi Organization 2 () are associated with a spectrum of clinical features including encephalopathy, rhabdomyolysis, cardiac rhythm disorders, and neurologic regression. We are reporting on 2 unrelated children with biallelic pathogenic variants. These variants were identified through a Next Generation Sequencing (NGS) panel of genes associated with hereditary rhabdomyolysis. Both children had a history of developmental delay, especially in their motor milestones. They also experienced episodic transient weakness with acute illness. One of the children's siblings had similar complaints and died at an early age. During their illness, both children developed extreme lethargy with very high CPK levels, lactic acidosis, rising trends of transaminases, and recurrent hypoglycemia. Both patients developed ventricular tachyarrhythmias, and the echocardiogram showed cardiomyopathy. Despite intensive symptomatic management, both patients died of cardiac failure because of fatal ventricular arrhythmia. Genetic testing revealed the presence of biallelic pathogenic variants . This rare genetic condition should be suspected in any patient with episodic recurrent weakness, rhabdomyolysis, abdominal pain, and cardiac arrhythmias, because of its diverse clinical presentation. However, early diagnosis is challenging because there are no specific biochemical markers for the disease. There is strong evidence that vitamin B supplementation can significantly reduce the number of metabolic crises in these children. Although this is not a targeted therapy, it can be a potentially life-saving treatment for these patients.

Myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a recently defined demyelinating disorder with an age-related phenotypic spectrum. At disease onset, there is considerable clinical overlap between MOGAD and other demyelinating conditions, and it remains difficult to identify MOGAD radiographically. This study aims to further describe neuroimaging findings in the brain and the spine at presentation and throughout relapses in children with MOGAD.

The indication for endoscopic third ventriculostomy is often contested in children younger than 1 year. This study aims to establish the benefits of this modality in children with idiopathic congenital aqueductal stenosis.

The thalamus is critical for the relay and modulation of visual information. As such, injury to the developing thalamus may result in cerebral visual impairment (CVI). This study investigated quantitative volume reductions of the thalamus in cerebral visual impairment compared to controls and probed the association between thalamic volume and the severity of cerebral visual impairment-related visual dysfunctions. Thalamic volumes were quantified using T1-weighted magnetic resonance imaging (MRI) data from 23 participants with cerebral visual impairment and 42 controls. Nineteen participants with cerebral visual impairment also completed the CVI Questionnaire. Cerebral visual impairment was associated with significant volume reductions of the global thalami, anterior, lateral, and ventral thalamic regions, as well as several nuclei, particularly in those with cerebral visual impairment due to periventricular leukomalacia. Within the cerebral visual impairment group, smaller volumes of the right thalamus and lateral pulvinar were significantly associated with more reported difficulties moving through space. Together, these results provide empirical evidence supporting aberrant thalamic development as a potential mechanism underlying cerebral visual impairment.

We present the case of a 15-year-old girl with new-onset psychosis and abnormal white matter activity on neuroimaging, engaging multidisciplinary care between genetics, neurology, psychiatry, and neuropsychology. She functioned well in mainstream education despite below average intellectual functioning. Physical examination findings enabled the diagnosis, and patient improved with joint psychological and behavioral outpatient services.

Posttraumatic headache is common in pediatrics. Studies have examined treatment of postconcussion symptoms, but few target posttraumatic headache. Biofeedback therapy has been studied in children and teens with primary headaches, but not posttraumatic headache. Our goal was to examine the changes in posttraumatic headache associated with biofeedback therapy in pediatric patients.

We examined the association between social determinants of health and the likelihood of sustaining a concussion among adolescents. Participants in this cross-sectional study were 7164 high school students who completed the 2021 Adolescent Behaviors and Experiences Survey (52.7% girls; mean age = 16.0 years, SD = 1.2; age range 12-18 years). Logistic regression was used to determine which social determinants of health variables were associated with a self-reported history of concussion from playing a sport or being physically active over the past year. One in 10 adolescents (n = 716; 10.0% total; 11.8% of boys, 8.3% of girls) reported sustaining a concussion during the past year. Seven of 10 adolescents (70.3%) reported experiencing at least 1 of 8 negative social determinants of health. A multivariable logistic regression was statistically significant ( < .001), indicating that the negative social determinants of health were associated with having sustained a concussion during the past year; the model explained 12.5% (Nagelkerke ) of the variance in concussion. Controlling for all other predictors, sports participation (odds ratio [OR] = 3.72, medium effect), housing instability (OR = 3.25, small-medium effect) and limited English language proficiency (OR = 3.05, small-medium effect) were the strongest independent predictors of sustaining concussion within the past year. Adolescents who lived in a neighborhood where there is violence (OR = 1.78, small effect), who were bullied (OR = 1.57, very small effect), and who experienced food insecurity (OR = 1.36, very small effect) were more likely to have sustained a concussion. Research is needed to understand the nature of these determinant-injury associations. Whether social determinants of health are associated with specific treatment and rehabilitation needs, and time to recover following concussion, should be examined with prospective studies.

Autoimmune diseases are a heterogeneous group resulting from dysregulation or dysfunction of the immune system due to genetic predisposition and environmental triggers. It is common for these diseases to coexist. However, except for a single case secondary to varicella zoster virus infection, the association between juvenile idiopathic arthritis and acute cerebellitis has not been reported in the literature. A 9-year-old girl with juvenile idiopathic arthritis, initially presenting with symptoms of headache, nausea and vomiting, was diagnosed with diffuse bihemispheric acute cerebellitis by magnetic resonance imaging (MRI). Various tests were performed to determine the etiology of the disease. Infectious, metabolic, and autoimmune causes were excluded. This case report illustrates an ultra-rare association between juvenile idiopathic arthritis and acute cerebellitis, with a successful outcome following treatment and monitoring. There are 17 children, including our patient, who were followed with juvenile idiopathic arthritis and were found to have central nervous system disorders in the literature. Cerebral vasculitis and optic neuritis were the most commonly diagnosed neurologic disorders. Biologic agents have been implicated in some cases of optic neuritis and aseptic meningitis. Prompt treatment with corticosteroids and discontinuation of suspected biologic agents leads to favorable outcomes. This literature review highlights that early diagnosis and intervention can significantly improve outcomes.

Given the centrality of school to the lives of the more than 450 000 US children living with epilepsy, their interface with schools related to medical and educational needs is critical. This qualitative study explores parental experiences with school systems for the care and education of their children with epilepsy. Two 90-minute focus groups were empaneled with a total of 11 caregivers of children with epilepsy. Facilitators, moderators, and recorders of each group performed semistructured interviews prompting discussion of families' experiences. Conversations were audio recorded, deidentified, transcribed, and coded. Five central themes emerged: Lack of School Resources (46), Lack of School Support (36), Customized Educational Support Plans (32), Academic Impacts (24), and Positive School Support (22). Families demonstrated a lack of awareness of resources available for their children and reported using other families, advocacy groups, health teams, and others to help. Some participants felt burdened as their child's sole advocate through their educational journey, including educating staff on epilepsy care and fighting for individual educational plans or supplemental resources. Families described global adverse effects of their child's epilepsy on family function related to finances/work, relationships, and sibling depression/anxiety, as well as inconsistent staff education to support students with epilepsy and variable staffing. Families of children with epilepsy face barriers that inform potential areas of improvement within schools. Closer interface between the medical community and educational systems may bridge gaps to ease the burden on families of children with epilepsy.

Although many reports have described the characteristics of Williams-Beuren syndrome, few specifically analyzed epilepsy in patients with Williams-Beuren syndrome. In this retrospective study, we map the prevalence, types, and prognosis of epileptic seizures in a large cohort of 589 patients with Williams-Beuren syndrome, as well as associations between deletions of the membrane-associated guanylate kinase inverted-2-gene (2 gene), which is associated with infantile spasms (IS), and epilepsy in patients with Williams-Beuren syndrome.Our findings indicate that the incidence of epilepsy in patients with Williams-Beuren syndrome is approximately 1.02% (6 in 589), and is thus not higher than the incidence in the general population (0.5%-1.0%). West syndrome emerged as the most common epileptic syndrome in patients with Williams-Beuren syndrome (4 of 6) and typically has a favorable prognosis. There was no genotype-phenotype correlation between 2 deletions and West syndrome in this cohort.

Few studies have explored the efficacy of laser interstitial thermal therapy in pediatric epilepsy surgery. This study aims to evaluate seizure-free outcomes in children and adolescents with mesial temporal lobe epilepsy who underwent laser interstitial thermal therapy.