Journal of Child Neurology最新文献

Introduction: Eslicarbazepine (ESL) is a once-daily, third-generation antiseizure medication for focal-onset seizures. The primary mechanism of action is enhancing the slow inactivation of voltage-gated sodium channels. The study objective was to review real-world experience regarding retention rate, efficacy, and tolerability of eslicarbazepine, soon after it became available for children in Canada.

Methods: A retrospective review was performed on all patients prescribed eslicarbazepine from September 2017 to June 2020, with at least 3 years of follow-up data, at 3 Canadian tertiary care pediatric centers.

Results: Fifty patients were identified, and the mean age of eslicarbazepine initiation was 12.4 years (range 3-19 years). Most patients had drug-resistant epilepsy, trying a mean of 5.04 (range 0-14) antiseizure medications before the initiation of eslicarbazepine. Twenty-four patients (48.0%) experienced adverse effects, including dizziness (n = 10), drowsiness (n = 6), dizziness and drowsiness (n = 1), nausea and abdominal pain (n = 4), transient unsteadiness and diplopia (n = 1), and negative mood changes (n = 2). None had serious adverse effects, including rash. The retention rate of eslicarbazepine at last follow-up was 70%. Fifteen (30%) had ≥50% seizure reduction, with 2 of these patients becoming seizure free. Ten (20%) had 25% to 50% reduction, 2 (4%) had worsening of seizures, and 17 (34%) had no change in seizure frequency.

Conclusion: The study results support the long-term effectiveness and tolerability of eslicarbazepine in a cohort of children with predominantly drug-resistant epilepsy in a real-life setting from 3 Canadian centers with initial use after approval. Adverse effects were nonserious, infrequently leading to eslicarbazepine discontinuation.

Epstein-Barr virus meningoencephalitis is a rare central nervous system infection that lacks standardized treatment. Immunocompetent and immunosuppressed individuals with this condition frequently have poor prognostic outcomes, making the need to identify therapeutic interventions high. Here, we report 2 pediatric cases of severe Epstein-Barr virus meningoencephalitis, both unresponsive to immunoglobulin and corticosteroid therapy, who demonstrated rapid clinical recovery following rituximab administration. Prognostic outcomes revealed marked improvements in symptoms, neurologic function, and quality of life. Rituximab may offer therapeutic potential in severe and refractory Epstein-Barr virus meningoencephalitis through the medication's target of Epstein-Barr virus harboring B cells. This report emphasizes the need for timely evaluation and consideration of rituximab therapy in immunocompetent pediatric patients with Epstein-Barr virus meningoencephalitis.

Background: RNA polymerase III (POLR3)-related leukodystrophy is a rare, neurodegenerative disorder characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism. Despite the challenges of caring for a child with POLR3-related leukodystrophy, few studies have examined parents' disease burden. We sought to investigate quality of life and stress levels amongst parents of children with POLR3-related leukodystrophy. Methods: 43 parents of 32 children completed questionnaires on demographics, stress, quality of life, coping mechanisms, and experience of injustice. Detailed clinical data was collected from all patients. Results: Mothers (t[27] = -8.66, P < .001) and fathers (t[16] = -4.47, P < .001) had lower quality of life scores compared to the normative population, yet 80% of parents' stress scores fell within the normal stress range. Parents' experience of injustice scores were high (>60). Correlations were found between and within parents' scores. Years since disease onset and certain life circumstances correlated to mothers' quality of life scores; however, no correlation was found between modifiable factors and fathers' quality of life scores. Helpful coping mechanisms included those that allowed parents to be involved in their child's life. Conclusions: This is the first study to assess stress and quality of life in this population. These results shed light on the importance of implementing services and social support to improve the well-being of parents.

Aim: To evaluate the efficacy and safety of onabotulinumtoxinA for treating upper and lower limb spasticity among pediatric patients in 2 open-label extension trials.

Methods: Patients aged <18 years received ≤5 doses of onabotulinumtoxinA (maximum: 8 U/kg [300 U], cycle 1; 10 U/kg [340 U], cycles 2-5) over 60 weeks. Week 6 efficacy endpoints included mean change from baseline in Modified Ashworth Scale-Bohannon and Modified Tardieu Scale scores, and mean Clinical Global Impression of Overall Change score. Adverse events and laboratory assessments of bone health were monitored.

Results: A total of 580 patients received onabotulinumtoxinA. Modified Ashworth Scale-Bohannon change from baseline ranged from -1.01 to -1.9. Modified Tardieu Scale change from baseline was 13.6 to 18.1 (ankle), 25.8 to 44.1 (elbow), and -5.0 to -26.3 (wrist). Clinical Global Impression of Overall Change scores were 1.5 to 2.2. The most common treatment-emergent adverse events were upper respiratory tract infection (16.9%) and nasopharyngitis (15.7%).

Interpretation: Repeat administration of onabotulinumtoxinA was safe and efficacious for treating upper and lower limb spasticity in children.

Introduction: Pediatric neurology provides care for children with complex developmental disorders with environmental, genetic, metabolic, and teratogenic etiologies. Common neurodevelopmental conditions include attention-deficit hyperactivity disorder (ADHD), and autism spectrum disorder. However, only minimal attention from pediatric neurology journals has been devoted to fetal alcohol spectrum disorder. This is surprising because fetal alcohol spectrum disorder is a common neurodevelopmental disorder with a prevalence of between 1% and 5% of school-age children.

Methods: This scoping review had 2 objectives. Objective 1 was to estimate the number of articles reporting on fetal alcohol spectrum disorder in 8 well-respected pediatric neurology journals. Objective 2 was to determine how many patients from a single pediatric neurology practice referred to a clinic for diagnosis and management of neurobehavioral disorders received a diagnosis of ADHD, autism spectrum disorder, and fetal alcohol spectrum disorder.

Results: Objective 1, a survey of 8 prominent pediatric neurology journals until January 2024, found that a title and abstract search identified 1786 articles on the three topics. Papers on autism spectrum disorder (n =1043) accounted for 58.4% of the total. Papers on ADHD (n = 685) comprised 38.4% and articles on fetal alcohol spectrum disorder (n = 58) contributed just 3.3% of the total.Objective 2, a chart review of 40 patients from a single pediatric neurology clinic who were referred for developmental assessment and management, found that 40% had prenatal alcohol exposure and 20% received a diagnosis of fetal alcohol spectrum disorder. High rates of comorbidity between fetal alcohol spectrum disorder and ADHD of 21% and of fetal alcohol spectrum disorder and autism spectrum disorder of 2.5% were found.

Conclusions: Because fetal alcohol spectrum disorder is one of the most common causes of neurodevelopmental disorders, the limited attention to fetal alcohol spectrum disorder in pediatric neurology journals is concerning. This study suggests that in addition to ADHD and autism spectrum disorder, fetal alcohol spectrum disorder may also be a common diagnosis in pediatric neurology practice. Pediatric neurology journals may need to take active steps to increase content on fetal alcohol spectrum disorder. This could include editorials, invited commentaries, or topical reviews. Early recognition and diagnosis of fetal alcohol spectrum disorder allows for the implementation of specific interventions, which can improve the quality of life for patients and families.

Balamuthia mandrillaris granulomatous amebic encephalitis is a rare disease that is associated with a high rate of mortality. Delays in diagnosis and treatment are common because of limited information on the organism in addition to its nonspecific clinical presentation. Prior reports have demonstrated that the encephalitis presents as multifocal lesions throughout the central nervous system with enhancement and edema. Here we report a case involving a 4-year-old previously healthy female child with a novel pathologic presentation of B mandrillaris infection, including vasculitis involving multiple large intracranial vessels as well as inflammation of multiple cranial nerves. The infection was ultimately fatal despite early diagnosis and initiation of targeted treatment.

Kabuki syndrome is a rare congenital disorder characterized by a distinctive combination of craniofacial features, developmental anomalies, and intellectual disabilities. This study aims to provide a comprehensive exploration of Kabuki syndrome through a meticulous case series analysis focusing on its clinical features and genetic underpinnings. A cohort of 9 Kabuki syndrome patients was identified through a retrospective examination of medical records spanning from 1996 to 2022. These patients underwent various clinical assessments, radiologic investigations, neuropsychological evaluations, and targeted genetic analyses, specifically focusing on the KMT2D and KDM6A genes.The median age of diagnosis was approximately 4.7 years, with a male-to-female ratio of 6:3. Prominent clinical characteristics included distinctive facial features such as arched eyebrows, elongated eyelashes, ear abnormalities, fingertip pads, nasolabial anomalies, and oral alterations. Ophthalmologic and otologic manifestations were notable, alongside a spectrum of cardiovascular, gastrointestinal, and endocrine aberrations. The prevalence of neuropsychological disorders highlighted the cognitive and behavioral challenges experienced by Kabuki syndrome patients. Genetic investigations confirmed the involvement of variants in the KMT2D and KDM6A genes in the pathogenesis of Kabuki syndrome. In conclusion, this study emphasizes the importance of precise diagnosis, the adoption of a multidisciplinary care approach, and the tailored interventions for individuals affected by Kabuki syndrome. Furthermore, it underscores the need for continued research efforts to unravel the genetic intricacies and molecular mechanisms underlying this enigmatic syndrome.

Background: Children with self-limited epilepsy with centrotemporal spikes often face language impairments and central auditory processing difficulties. The correlations between these issues, seizure timing, and neuropsychiatric challenges are not fully understood. This study delves into the connections between language impairments and central auditory processing difficulties in cases with self-limited epilepsy with centrotemporal spikes, examining their links with seizure occurrence and neuropsychiatric function.

Materials and methods: Patients with self-limited epilepsy with centrotemporal spikes were categorized based on seizure timing: group 1 experienced seizures postbedtime, and group 2 prewaking. Both, alongside controls, underwent the Turkish Expressive and Receptive Language Test (TIFALDI) for language skills, and the Frequency Pattern and Duration Pattern tests for central auditory processing difficulties. Neuropsychiatric assessments involved the Wechsler Intelligence Scale for Children-Revised, the Strengths and Difficulties Questionnaire, the Conners Parent Rating Scale-Revised Short, and the Barratt Impulsiveness Scale-11.

Results: The study comprised 56 patients with self-limited epilepsy with centrotemporal spikes (ages 6-13) and 32 healthy controls. Both groups significantly lagged behind controls on the Frequency Pattern and Duration Pattern tests (P < .001). In the TIFALDI, the expressive language scores varied between group 1 and controls (P = .04) but not the receptive language scores or the test's expressive and receptive language results between group 2 and controls (P > .05). In the Strengths and Difficulties Questionnaire, group 1 diverged from controls in behavioral and kind and helpful behavior scores (P = .016 and P = .012). Group 1's Barratt Impulsiveness Scale-11 values surpassed controls' (P = .038).

Conclusion: Children with self-limited epilepsy with centrotemporal spikes have a high central auditory processing difficulties prevalence, regardless of seizure timing. Those with postsleep seizures tend to confront expressive language difficulties, alongside issues in prosocial behavior and impulsivity.

Background: Most patients with idiopathic generalized epilepsy have good seizure control on antiseizure medications. Although idiopathic generalized epilepsy subtypes such as juvenile absence epilepsy and juvenile myoclonic epilepsy have a high risk of relapse, childhood absence epilepsy may have seizure remission. After 2 years of seizure freedom in childhood absence epilepsy, typically antiseizure medications are discontinued, but follow-up protocols are unclear. This study aims to evaluate how often patients with idiopathic generalized epilepsy undergo electroencephalography (EEG) after antiseizure medication withdrawal, how often antiseizure medications are restarted based on EEG findings, and if this varies between physicians and advanced practice providers at our institution.

Methods: This was a retrospective chart review. Data were collected using electronic medical records of pediatric patients (<18 years) with idiopathic generalized epilepsy who were successfully weaned off antiseizure medications at Penn State Children's Hospital from 2010 to 2020.

Results: We reviewed 1409 charts and found 52 patients meeting criteria. Seventeen of 52 patients (32%) had a repeat EEG within 6 months of antiseizure medication withdrawal following seizure freedom. Of those 17 patients, 3 (17.6%) had generalized epileptiform discharges on EEG. Of these 3 patients, 2 (66%) were restarted on antiseizure medications based on the abnormal EEG. None had seizure relapse.

Conclusion: Obtaining a repeat EEG in patients after antiseizure medication withdrawal following seizure freedom is common. Patients with an abnormal EEG are often restarted on antiseizure medications, irrespective of clinical seizure relapse. Considering the high health care costs of EEGs and antiseizure medication side effects, we propose that if patients with idiopathic generalized epilepsy do well clinically following antiseizure medication withdrawal, EEGs may not be necessary.

We present an overview of the epidemiology and differential diagnosis of Marcus Gunn jaw-winking syndrome. We scrutinize various hypotheses regarding its etiology and pathogenesis, encompassing abnormal nerve connections, heredity factors, genetic variation, and the release hypothesis, as proposed in prior studies. Furthermore, we discuss the clinical manifestations of Marcus Gunn jaw-winking syndrome and highlight cases with exceptional clinical presentations or concurrent diseases. Moreover, we not only describe the existing surgical and nonsurgical treatments for Marcus Gunn jaw-winking syndrome but also delineate therapies for related conditions such as Meige syndrome, sequelae of facial paralysis, and other oculopalpebral and facial synkinesis. This comprehensive approach serves as a valuable reference for the holistic management of Marcus Gunn jaw-winking syndrome.