Journal of Child Neurology最新文献

{"title":"Christianson Syndrome Family Experiences: Results From Caregiver Interviews.","authors":"Danielle G St Pierre, Carrie R Best, Jennifer Elacio, Naomi Kissel, Eric M Morrow","doi":"10.1177/08830738251327619","DOIUrl":"https://doi.org/10.1177/08830738251327619","url":null,"abstract":"<p><p><b>Background:</b> 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. <b>Methods:</b> 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. <b>Results:</b> 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. <b>Conclusions:</b> These findings reflect caregiver experiences, enhance knowledge of Christianson syndrome impacts, and highlight common challenges for families managing disabilities.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251327619"},"PeriodicalIF":2.0,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143764100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Features and Predictors of Unfavorable Outcomes in Infantile Epileptic Spasms Syndrome: Results from a Multiancestry Cohort.","authors":"Dana Thaher, Abdullah Alkfaween, Ruba Benini","doi":"10.1177/08830738251326631","DOIUrl":"https://doi.org/10.1177/08830738251326631","url":null,"abstract":"<p><p><b>Background:</b> Infantile epileptic spasms syndrome is an epileptic encephalopathy with poor prognosis. <b>Objective:</b> To describe clinical features and predictors of unfavorable outcomes of infantile epileptic spasms syndrome in a multiancestry cohort. <b>Methods:</b> Retrospective cross-sectional chart review analysis at a single tertiary pediatric hospital in 56 patients with infantile epileptic spasms syndrome. <b>Results:</b> 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. <b>Significance:</b> 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.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251326631"},"PeriodicalIF":2.0,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742942","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>TANGO-2</i>: A Rare Genetic Condition With Severe Clinical Presentation of Encephalopathy, Rhabdomyolysis, and Cardiac Rhythm Disorders in 2 Children.","authors":"Khairunnisa Mukhtiar, Shahnaz Ibrahim, Quart-Ul-Ain Khalid","doi":"10.1177/08830738251328404","DOIUrl":"https://doi.org/10.1177/08830738251328404","url":null,"abstract":"<p><p>Biallelic pathogenic or likely pathogenic variants in Transport and Golgi Organization 2 (<i>TANGO-2</i>) 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 <i>TANGO-2</i> 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 <i>TANGO-2</i>. 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.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251328404"},"PeriodicalIF":2.0,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143742940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric Traumatic Brain Injuries in Natural Disasters, a Call for Better Preparedness: A Systematic Literature Review.","authors":"Alex S Aguirre, Kenny Rojas, Alcy R Torres","doi":"10.1177/08830738251323430","DOIUrl":"https://doi.org/10.1177/08830738251323430","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251323430"},"PeriodicalIF":2.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiac Involvement in Becker Muscular Dystrophy: Insights from Echocardiographic Analysis.","authors":"Jihye You, Mi Jin Kim, Seulgi Cha, Jae Suk Baek, Mi-Sun Yum, Beom Hee Lee, Jeong Jin Yu","doi":"10.1177/08830738251327248","DOIUrl":"https://doi.org/10.1177/08830738251327248","url":null,"abstract":"<p><p>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).</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251327248"},"PeriodicalIF":2.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143692309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cooking Up a Diagnosis: How the Starch-Iodine Test Adds Consistency in Localizing Horner Syndrome Lesions.","authors":"Daniela da Rocha Couto, Sara Carvalho, Jacinta Fonseca, Cláudia Melo, Mafalda Sampaio, Raquel Sousa","doi":"10.1177/08830738251324229","DOIUrl":"https://doi.org/10.1177/08830738251324229","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251324229"},"PeriodicalIF":2.0,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143673981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Short-term EEG Outcomes in Children With Developmental and/or Epileptic Encephalopathy With Spike and Wave Activation in Sleep (DEE-SWAS) Treated With High-Dose Diazepam.","authors":"Sonali Singh, Ayako Ochi, Hiroshi Otsubo, Miguel Cortez, Vann Chau, Laura Wang, Rohit Sharma, Kaitlin Flynn, Elizabeth Donner, Puneet Jain","doi":"10.1177/08830738251322227","DOIUrl":"https://doi.org/10.1177/08830738251322227","url":null,"abstract":"<p><p><b>Objectives:</b> 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. <b>Results:</b> 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, <i>P</i> = .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%). <b>Conclusions:</b> 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.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251322227"},"PeriodicalIF":2.0,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Calcitonin Gene-Related Peptide Levels in Children and Adolescents With Primary Headache Disorder.","authors":"Mathilde Musoni Falsing, Amalie Akulenok Berring-Uldum, Astrid Førland-Schill, Niklas Rye Jørgensen, Nanette Marinette Monique Debes","doi":"10.1177/08830738251321276","DOIUrl":"https://doi.org/10.1177/08830738251321276","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251321276"},"PeriodicalIF":2.0,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143624812","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurologic Disease and Vitamin B₁₂ Levels in Children.","authors":"Betül Diler Durgut","doi":"10.1177/08830738251319056","DOIUrl":"https://doi.org/10.1177/08830738251319056","url":null,"abstract":"<p><p><b>Introduction:</b> Vitamin B₁₂ deficiency is a well-known cause of neurologic symptoms, prompting routine measurement in patients with neurologic conditions. However, elevated B₁₂ levels are also observed in some cases. Recent studies suggest a potential link between high B₁₂ levels and neurologic or neurodevelopmental disorders. This study aims to evaluate vitamin B₁₂ levels in children with neurologic disorders compared with those in general pediatric populations. <b>Materials and Methods:</b> This single-center retrospective study analyzed pediatric patients' vitamin B₁₂ levels between 2000 and 2023. Exclusion criteria included incomplete data and vitamin supplementation. Patients were grouped based on B₁₂ 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 B₁₂ levels (>660 pg/mL) in the neurology clinic. Vitamin B₁₂ levels were measured using Roche Cobas e 601 analyzers. <b>Results:</b> Over 3 years, 4142 pediatric clinic and 2638 pediatric neurology patients were reviewed. Elevated B₁₂ levels were more frequent in the neurology clinic. Patients with elevated B₁₂ levels (n = 338) had a mean age of 8.67 months and a mean B₁₂ level of 894.7 pg/mL. Of 137 patients with follow-up B₁₂ measurements, 40.1% normalized, while 17.5% remained > 1000 pg/mL. The most common diagnosis in patients with persistently high B₁₂ levels was epilepsy, followed by prematurity, cerebral palsy, autism, intellectual disability, and language delay. <b>Conclusions:</b> Elevated vitamin B₁₂ levels were associated with pediatric neurologic disorders, particularly epilepsy. Further research is needed to clarify the mechanisms and clinical implications of this finding.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251319056"},"PeriodicalIF":2.0,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early Treatment in Preterm Twins With Spinal Muscular Atrophy.","authors":"Jacob Bistritzer, Dekel Avital, Inbal Golan-Tripto, Ramy Abramsky, Iris Noyman","doi":"10.1177/08830738251322224","DOIUrl":"https://doi.org/10.1177/08830738251322224","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251322224"},"PeriodicalIF":2.0,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}