Journal of Child Neurology最新文献

BackgroundChildhood primary angiitis of the central nervous system is a rare inflammatory disorder affecting the central nervous system in children. High-resolution magnetic resonance vessel wall imaging is less frequently used in the childhood primary angiitis of the central nervous system. This study aimed to investigate the value of high-resolution magnetic resonance vessel wall imaging in childhood primary angiitis of the central nervous system.MethodsWe retrospectively reviewed patients <18 years old who met the diagnostic criteria for primary angiitis of the central nervous system at Xiangya Hospital from January 2020 to April 2024. High-resolution magnetic resonance vessel wall imaging was performed to assess vessel wall enhancement, which was subsequently quantified for analysis.ResultA total of 6 patients were included in the study, 3 of whom were male, with a mean age of onset of 10.3 years. The most common presenting symptoms were headache/dizziness and hemiplegia. Ischemic brain lesions were caused by stenosis of vessels in the anterior circulation in 4 patients and in the posterior circulation in 2 patients. Intravenous methylprednisolone was the primary immunotherapy used and was administered to all patients. None experienced relapse. A total of 174 arteries were evaluated, of which 38 exhibited grade 1 enhancement and 31 exhibited grade 2 enhancement. Bilateral internal carotid artery wall enhancement was noted in all patients. Corresponding offending arteries were identified in each case, all of which showed predominant enhancement and varying degrees of stenosis. The vessel wall enhancement score at the initial assessment was 16.7 ± 2.8, which significantly decreased to 12.7 ± 2.4 at the final assessment (P = .012).ConclusionHigh-resolution magnetic resonance vessel wall imaging appears to be a potentially effective tool for both diagnosing childhood primary angiitis of the central nervous system and monitoring response to treatment.

Spinal muscular atrophies are a group of genetically and clinically heterogeneous neuromuscular disorders characterized by progressive loss of lower motor neurons, muscle weakness, and atrophy. Approximately 95% of spinal muscular atrophy cases are associated with a deletion of exons 7 and 8 in the survival motor neuron 1 (SMN1) gene, resulting in insufficient levels of SMN protein. The remaining 5% of cases involve mutations in approximately 30 different genes, collectively referred to as non-SMN-related spinal muscular atrophies. These variants often present with distinct clinical features beyond typical spinal muscular atrophy symptoms, including arthrogryposis, extraocular movement abnormalities, brainstem signs, or cardiomyopathy. This review aims to provide an updated genetic landscape of non-SMN-linked spinal muscular atrophy phenotypes and propose a diagnostic protocol to assist clinicians in cases where SMN1 gene sequencing yields no conclusive findings.

Soccer is the most popular sport worldwide, with participation across all levels of play. Heading the ball raises concerns about subconcussive impacts and their cumulative effects, which remain uncertain. This review aims to synthesize current literature on heading across different levels of play. A narrative review was conducted using the PubMed database to search for articles related to soccer heading and its neurologic outcomes. Articles were categorized by level of play: youth, adolescent, college, adult amateur, and professional. Twenty-seven studies met the inclusion criteria. There was lack of consensus on the neurologic effects of heading across any age group, and only 3 studies followed players through a season. The use of various tools among these studies prevented meaningful comparisons. Overall, the need for longitudinal studies across different levels of play with standardized evaluation tools is crucial for assessing the neurologic outcomes of soccer players.

The objective of this prospective cohort study was to explore parents' perspectives of patients' experiences of the first available novel disease-modifying therapy for SMA in Sweden. Patients with SMA and their parents/legal guardians were identified in the National Patient Register and the Multi-Generation Register. Data was recorded using an electronic questionnaire administered at baseline, and after 6, 12, and 18 months. In total, 47 parents to 33 children with SMA (mean patient age: 9 years, 59% female; 27% with SMA type I, 33% with type II, and 39% with type III) participated. All parents reported that they wished their child to be treated with nusinersen and most parents (81%) reported that they had sufficient information to make an informed treatment decision. Across follow-up, almost all parents reported having a positive experience of nusinersen. Our study provides unique insights into caregivers' real-world experiences of a novel disease-modifying therapy for SMA.

BackgroundHypoxic-ischemic encephalopathy is a serious neurologic condition caused by reduced blood and oxygen supply to the brain, typically occurring during birth. Mitochondria play a crucial role in the pathophysiological mechanisms of hypoxic-ischemic encephalopathy, yet a comprehensive bibliometric analysis of this research area is lacking. This study aims to identify research hotspots and trends related to mitochondria and hypoxic-ischemic encephalopathy through a detailed bibliometric analysis.MethodsWe searched the Web of Science Core Collection for studies on hypoxic-ischemic encephalopathy and mitochondria published between 2004 and 2024. Using VOSviewer, Citespace, and the R package "bibliometrix," we conducted a comprehensive analysis to explore research trends, key topics, and collaborations.ResultsA total of 162 eligible articles were identified. The annual number of publications has increased over time, with peaks in recent years. The top contributing countries were China, the United States, and the United Kingdom, showing extensive international collaborations. Major institutions include Augusta University, Southern Medical University, and the University of the Basque Country. The leading journals were the International Journal of Molecular Sciences and Neurobiology of Disease. Keyword analysis highlighted neuroprotection, apoptosis, oxidative stress, and ferroptosis as primary research themes. Influential references with strong citation bursts were identified, indicating their impact on the field.ConclusionThis is the first bibliometric analysis of research on mitochondria and hypoxic-ischemic encephalopathy, highlighting key trends and hotspots. Our findings provide valuable insights into the development and direction of research in this field and emphasize the importance of mitochondria in understanding and potentially mitigating the impacts of hypoxic-ischemic encephalopathy.

BackgroundAutism spectrum disorder and epilepsy commonly occur together (ASD+EPI), suggesting shared pathology. However, epilepsy phenotypes within ASD+EPI are very heterogenous. Preterm birth poses a risk for both autism and epilepsy, and therefore may have a distinctive phenotype.MethodsWe used clinical EEG reports from more than 200 patients diagnosed with ASD+EPI and extracted lateralization and location data across multiple EEG time points. We analyzed epilepsy phenotypes between children born <32 weeks, 32-36⁺⁶, and 37-40⁺⁶ weeks to determine whether gestational age at birth impacts propensity for focal vs generalized epileptic activity.ResultsPatients with a history of birth before 32 weeks' gestational age had increased incidence of focal interictal activity compared with patients born after 32 weeks. There were no differences in seizure or interictal categorization between patients born moderately/late preterm and those born at term.ConclusionsThese results suggest that patients born extremely/very preterm who develop ASD+EPI have a predisposition toward focal epileptic activity, which may be due to changes in white matter development following very preterm birth.

ObjectivesMore than half of males with X-linked adrenoleukodystrophy (ALD) develop progressive, inflammatory cerebral demyelination (cerebral adrenoleukodystrophy). Treatment for cerebral adrenoleukodystrophy is limited with no standard therapies for advanced cerebral adrenoleukodystrophy. We reviewed cerebral adrenoleukodystrophy literature and expert opinion, compiling immunopathology, biomarkers, and therapies tested.MethodsWe reviewed published literature from January 1, 1970, through November 1, 2024, and surveyed expert clinicians worldwide caring for cerebral adrenoleukodystrophy patients for unpublished agent use.ResultsWe identified 20 publications with primary data on human cerebral adrenoleukodystrophy immunopathology. Seventeen publications reported cerebral adrenoleukodystrophy biomarkers. We identified 14 publications reporting use of 7 different agents; unpublished clinician reports identified use of 9 different agents.ConclusionsCerebral adrenoleukodystrophy immunopathology represents complex dysregulation of cytokines, macrophages, T cells, astrocytes, oligodendrocytes, and microglia. Partial responses to cerebral adrenoleukodystrophy were noted with intravenous immunoglobulin, sirolimus, leriglitazone, and mycophenolate. Our findings suggest consideration for a randomized platform trial of immunomodulatory agents for advanced cerebral adrenoleukodystrophy.

Rett syndrome is a neurodevelopmental disorder that primarily affects females and is often associated with sleep problems. To date, few studies have examined how sleep problems correspond to aspects of clinical severity in Rett syndrome. In this study, we examined how sleep architecture and sleep-disordered breathing correspond to psychometrically validated outcome measures that are being used in clinical trials. Thirteen participants (mean [M] = 5.96 years, standard deviation [SD] = 2.6), all with confirmed pathogenic variants in MECP2, were enrolled. Participants underwent polysomnography and formal clinical assessments. Six of thirteen participants had obstructive sleep apnea, which was worse during rapid eye movement (REM) sleep with associated hypoxemia and disruptions in sleep architecture. Decreased REM sleep time significantly correlated with higher overall clinical severity (r = -.57; P = .04), lower functional skills (r = -.56; P = .04), and lower social skills (r = -.57; P = .04) using the Revised Motor Behavioral Inventory. Results of t tests revealed that those with obstructive sleep apnea had significantly increased wake time. Those with obstructive sleep apnea also had more behavioral difficulties (higher anxiety, mood disturbance) as captured using the Rett Syndrome Behavior Questionnaire. Taken together, the results of this study show that reduced REM sleep is very common in Rett syndrome and is associated with more impairments in functional and social skills. Obstructive sleep apnea is also very common, and is associated with changes to sleep architecture, higher anxiety, and more mood disturbances. This suggests that providers should routinely screen for sleep problems and implement interventions that can positively impact the quality of life of individuals with Rett syndrome and their families.