Journal of Child Neurology最新文献

{"title":"The Ketogenic Diet: An Underrecognized Therapy for Rett Syndrome.","authors":"Babitha Haridas, Stacey Bessone, Zahava Turner, Eric Kossoff","doi":"10.1177/08830738251329139","DOIUrl":"10.1177/08830738251329139","url":null,"abstract":"<p><p>Rett syndrome is an X-linked dominant neurodevelopmental disorder characterized by cognitive and communicative regression, stereotypies and loss of hand use. Epilepsy is present in 50% to 90% with approximately one-third having refractory epilepsy. The ketogenic diet has been used as an antiseizure therapy for more than a century; however, there is limited data on its use in Rett syndrome. In this retrospective single-center case series, we present 9 children with Rett syndrome who were placed on ketogenic diet. There was ≥50% improvement in seizure frequency in 67% (6/9) and 44% (4/9) at 6 and 12 months, respectively. Patients with ≥50% seizure reduction had an improvement in cognition and alertness. All 9 had a gastrostomy tube, with 8 starting ketogenic diet with a ketogenic formula and 1 with a food-based diet. The ketogenic diet is well tolerated and has high efficacy for seizures associated with Rett syndrome with two-thirds reporting significant seizure reduction. The presence of a gastrostomy tube can help the initiation and titration of ketogenic diet.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"530-534"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143993883","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":"Broadening the Scope: Enhancing Caregiver Research in Christianson Syndrome Through Diversity and In-Depth Exploration.","authors":"Muhammad Khubaib Iftikhar, Qurat Ul Ain Iftikhar","doi":"10.1177/08830738251339568","DOIUrl":"10.1177/08830738251339568","url":null,"abstract":"<p><p>The article by St. Pierre et al provides valuable insights into the challenges faced by caregivers of individuals with Christianson syndrome (CS), focusing on emotional burden, symptom progression, and coping strategies. However, several key areas require further exploration. The study's limited sample size and lack of demographic diversity may hinder the generalizability of its findings, as caregivers' experiences are shaped by cultural and geographic factors. Expanding the sample size and including caregivers from diverse backgrounds would offer a more comprehensive understanding of their needs. Furthermore, the study could have delved deeper into specific caregiver concerns, such as the diagnostic process and available support systems. Previous research underscores the importance of clear communication and robust support networks during the diagnostic journey of rare diseases. Future studies should prioritize larger, more diverse samples and explore critical areas such as diagnostic challenges, resource accessibility, and the efficacy of support systems to develop targeted interventions and improve caregiver outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"592-593"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142500","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":"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":"519-529"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","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":"Childhood Dementia: The Collective Impact and the Urgent Need for Greater Awareness and Action.","authors":"Kristina L Elvidge, Michelle A Farrar, John Christodoulou, Maina P Kava, Alexandra M Johnson, Marc C Patterson, Simon A Jones, Sameer Zuberi, Jo M Wilmshurst, Nicholas J C Smith","doi":"10.1177/08830738251331359","DOIUrl":"10.1177/08830738251331359","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"501-503"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144026475","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":"Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.","authors":"Francesco Gavazzi, Ashley Martin, Anjana Sevagamoorthy, Ylenia Vaia, Ariel Vincent, Sarah Woidill, Russell D'Aiello, Sara B DeMauro, Scott A Lorch, Adeline Vanderver, Laura A Adang","doi":"10.1177/08830738251341530","DOIUrl":"10.1177/08830738251341530","url":null,"abstract":"<p><p>Aicardi Goutières syndrome is a type I interferonopathy that results in a spectrum of neurologic impairment. In general, neurodegenerative disorders of childhood strongly affect the quality of life and perspective of the whole caregiver network. This article aims to define the impact of Aicardi Goutières syndrome on affected individuals and families through a multimethod approach using quality of life surveys and qualitative interviews.Qualitative interviews (n = 45) and quality of life questionnaires, including the Pediatric Quality of Life-Generic Core (PedsQL-GC, n = 46) and Family Impact (PedsQL-FI, n = 45) modules, Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD, n = 30), and Caregiver Traumatic Brain Injury (TBI)-CareQoL (n = 37), were administered to caregivers of children with Aicardi Goutières syndrome. The open-ended interviews with guided questions addressed the caregivers' perception of Aicardi Goutières syndrome and determinants of quality of life. Interviews were conducted until thematic saturation and qualitative analyses generated salient themes. Per quality of life questionnaires, motor abilities and activities of daily living were more impaired compared with other domains (Comfort and Emotion, Psychosocial Health, [mixed effect analysis with Bonferroni correction, <i>P</i> < .0001; Wilcoxon signed-rank test, <i>P</i> < .0001, respectively). In the qualitative interviews, families described stress surrounding symptoms of Aicardi Goutières syndrome, poor neurologic development with communication and motor impairment, and the overall impact of the disease on the family. This study shows the profound effects of Aicardi Goutières syndrome on families, which have global implications for family life. CPCHILD and PedsQL-FI are the preferred tools for routinely assessing the impact of disease in the Aicardi Goutières syndrome population.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"543-554"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kawasaki Disease With Left abducens Nerve Palsy: A Rare Neurological Manifestation.","authors":"Prabal Barman, C V Gayathri, Sai Charan Madugula, Arushi Gahlot Saini, Rakesh Kumar Pilania","doi":"10.1177/08830738251340265","DOIUrl":"10.1177/08830738251340265","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"555-557"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110921","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":"Hemiplegic Cerebral Palsy: Clinical Features Associated With Arterial Ischemic Stroke or Periventricular Venous Infarction.","authors":"Trish Domi, Darcy Fehlings, Pradeep Krishnan, Manohar Shroff, Matylda Machnowska, Amanda Robertson, Nomazulu Dlamini, Gabrielle deVeber","doi":"10.1177/08830738251327615","DOIUrl":"10.1177/08830738251327615","url":null,"abstract":"<p><p>ObjectiveWe sought to determine the clinical features of hemiplegic cerebral palsy associated with perinatal arterial ischemic stroke or periventricular venous infarction.MethodsWe studied children with hemiplegic cerebral palsy enrolled at 9 rehabilitation centers across Ontario. We compared children with underlying perinatal arterial ischemic stroke or periventricular venous infarction on clinically acquired brain imaging. Analysis also included prenatal (maternal, prenatal/gestational) and perinatal (obstetrical, neonatal) clinical features collected from birth records and standardized parent interviews.ResultsThe 144 children with hemiplegic cerebral palsy (62% male) included 95 with perinatal arterial ischemic stroke and 49 with periventricular venous infarction. In this cohort of children with hemiplegic cerebral palsy, we found neonatal systemic thrombosis (ie, blood clots in the body) (<i>P</i> = .05), emergency cesarean section (<i>P</i> = .05), and neonatal seizures (<i>P</i> = .01) to be clinical features associated with hemiplegic cerebral palsy in children with perinatal arterial ischemic stroke more often than periventricular venous infarction. Preterm delivery rates were similar for perinatal arterial ischemic stroke and periventricular venous infarction.ConclusionWe determined clinical features associated with the 2 most typical forms of focal ischemic brain injury in children with hemiplegic cerebral palsy, including mode of delivery emergency cesarean section, neonatal seizures and systemic thrombosis. These findings provide further insight and support for existing findings about focal brain injury patterns leading to hemiplegic cerebral palsy in children.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"535-542"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143998995","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":"Outcomes of Therapeutic Plasma Exchange Among Children With Autoimmune Encephalitis in Vietnam.","authors":"Son Thai Pham, Khang Vinh Nguyen, Lam Tran Khanh Le, Nguyen Minh Khoi, Tung Huu Trinh, Luan H Nguyen, Nguyen Khoi Quan, Nguyen Tien Huy","doi":"10.1177/08830738251356122","DOIUrl":"https://doi.org/10.1177/08830738251356122","url":null,"abstract":"<p><p><b>Background:</b> Autoimmune encephalitis is a group of inflammatory brain diseases causing neuropsychiatric symptoms, seizures, and memory problems. If untreated, autoimmune encephalitis can lead to serious complications and even death. Therapeutic plasma exchange may improve outcomes in severe or treatment-resistant cases. <b>Objective:</b> This study aimed to describe the clinical characteristics and treatment outcomes among pediatric autoimmune encephalitis with therapeutic plasma exchange-containing regimen. <b>Method:</b> This retrospective case series conducted on children admitted with autoimmune encephalitis underwent therapeutic plasma exchange at Children's Hospital No.2 (Vietnam), from January 2019 to June 2022. <b>Results:</b> Thirty-six Vietnamese children with severe autoimmune encephalitis were included. The median age was 7.4 years, with 8.5 days from disease onset to hospitalization. 19.4% had preceding flu-like symptoms. Common manifestations included impaired consciousness (100%), cognitive impairment (91.7%), seizures (86.1%), and movement disorders (86.1%). Neurological abnormalities were assessed via cerebrospinal fluid, electroencephalography (EEG), and brain magnetic resonance imaging (MRI). Most patients had anti-<i>N</i>-methyl-d-aspartate receptor (anti-NMDAR) encephalitis, receiving intravenous methylprednisolone and therapeutic plasma exchange. Probable antibody-negative autoimmune encephalitis patients received therapeutic plasma exchange alone or with intravenous methylprednisolone. Additional treatments included antibiotics, mechanical ventilation, and vasopressors. Early therapeutic plasma exchange initiation (within 28 days) was associated with improvement. Whereas 54.5% of patients required antiepileptic drugs at discharge, only 24.2% experienced seizures at ≥1-year follow-up. <b>Conclusions:</b> In this study, anti-NMDAR encephalitis was the most common diagnosis among admitted patients. Although therapeutic plasma exchange requires special training and equipment and is only available in some tertiary hospitals, therapeutic plasma exchange did improve neuropsychiatric symptoms at discharge. Future research should focus on elucidating the factors that contribute to successful therapeutic plasma exchange outcomes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"8830738251356122"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144760269","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":"A Systematic Review of Race or Ethnicity and Risk of Death in Spina Bifida in the United States.","authors":"Joan M Jasien, Michaela Z Kolarova, Euna Cho, Bronwen E Foreman, P Brian Smith, Samantha J Kaplan, Gordon Worley","doi":"10.1177/08830738251346215","DOIUrl":"10.1177/08830738251346215","url":null,"abstract":"<p><p>ObjectiveWe performed a systematic review of studies of mortality risk in spina bifida by race or ethnicity to determine if risks were relatively greater in Black or in Hispanic people with spina bifida than in White people in most studies.MethodsWe included studies of myelomeningocele that were peer-reviewed, recently published (1983-2022), and from the United States. We searched MEDLINE, Embase, and Scopus. We used PRISMA 2020 Guidelines and Cochrane Handbook for Interventions GRADE \"confidence in certainty of quality of evidence\" to evaluate studies. We assessed duplication of data sources during study periods in permutations of all possible pairs of studies.ResultsWe identified 4675 reports. After sequential review, 9 studies met inclusion criteria. We eliminated 1 study for design flaws, leaving 8 studies for systematic review synthesis. The median final endpoint at which survival was ascertained was 1 year old (range neonatal hospitalization discharge to ≤28 years old). There were 7 population-based, longitudinal, observational birth cohort studies and 1 cross-sectional study that used the Nationwide Inpatient Sample. Five studies found no increased mortality risk at study final endpoints in either Black or Hispanic participants (983 total decedents/9571 total participants), and 3 found a greater mortality risk in either Black (2) or \"non-White\" (1) participants (286 total decedents/7826 total participants). The median GRADE rating of the quality of evidence of the 8 studies was only \"moderate.\" Duplicated data sources during study periods were present in 28 of the 42 permutations of the 21 possible study pairs (67%), with a median duplication of 24%.ConclusionThis systematic review synthesis was inconclusive for racial or ethnic disparities in risk of death in young people with spina bifida. Results were variable across studies; potential bias from duplicated data sources was present in most pairs of studies; and quality of evidence was not high. Disparities in risk of death require further study.PROSPERO registrationCRD42021244766.Funded by philanthropic donations.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"575-591"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144560157","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":"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":"558-562"},"PeriodicalIF":1.6,"publicationDate":"2025-08-01","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}