Journal of Child Neurology最新文献

{"title":"Delayed Bilateral Internal Carotid Artery Occlusion in a Pediatric Patient Following Traumatic Injury: Insights on Management and Interventional Approach.","authors":"Samuel J Belfer, Lauren A Beslow, Alexander Vaz, Karuna Shekdar, Avrum Pollock, Sanjiv Mehta, Karla Resendiz, Leslie Raffini, Anne Marie Cahill, Joshua Catapano, Adam J Kundishora","doi":"10.1177/08830738251398589","DOIUrl":"10.1177/08830738251398589","url":null,"abstract":"<p><p>Carotid artery dissection is a rare but significant cause of pediatric stroke, often associated with trauma or underlying collagen vascular disorders. The management of these cases, both medical and surgical, is complex, particularly in bilateral dissections where collateral circulation may be insufficient. We describe a case of bilateral internal carotid artery occlusion that developed 10 days after an initial traumatic fall. The progression of ischemic stroke burden and fluctuating neurologic status, despite therapeutic anticoagulation and optimal medical management, led to the decision for endovascular intervention involving balloon angioplasty and stenting. Following the procedure, a rapid improvement in neurologic function was observed, with the patient exhibiting only mild deficits at discharge. This case highlights the complexities in managing pediatric carotid dissections, especially in unusual presentations. Our experience underscores the necessity for tailored treatment strategies, rigorous monitoring, and a multidisciplinary approach to optimize outcomes in pediatric stroke patients.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1020-1026"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145668708","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":"Family Functioning, Anxiety, and Depressive Symptoms and Their Impact on Quality of Life in Children With Neurofibromatosis Type 1.","authors":"Tuğba Acehan, Yağmur Harputlu Yamak, Şeyma Gürbüz, Ruken Demirkol Tunca, Yusuf Selman Çelik, Ayşe Kaçar Bayram, Ayşegül Efe, Bahadır Konuşkan","doi":"10.1177/08830738251396193","DOIUrl":"10.1177/08830738251396193","url":null,"abstract":"<p><p>AimOur study aims to explore the relationship between anxiety, depressive symptoms, and family functioning about quality of life in children diagnosed with neurofibromatosis type 1.MethodsA total of 51 participants, including 24 children in the neurofibromatosis type 1 group and 27 age- and gender-matched controls, aged between 8 and 18 years, were included. A pediatric neurologist confirmed each neurofibromatosis type 1 diagnosis. A semi-structured clinical interview (KSADS-PL) and psychometric evaluation were performed by a unique child psychiatrist. A sociodemographic form and psychometric scales assessing family functioning, quality of life, and children's anxiety and depressive symptoms were administered.ResultsAttention-deficit hyperactivity disorder and/or specific learning disorder were identified in 12 cases (50.0%). Parent-reported psychosocial subscores and total quality of life scores were significantly lower in the neurofibromatosis type 1 group compared with controls. Affective involvement subscores in family functioning were significantly higher in the neurofibromatosis type 1 group than in controls. The total quality of life scores reported by both children and parents, along with parent-reported psychosocial quality of life subscores, showed a moderate positive correlation with age at neurofibromatosis type 1 diagnosis. In contrast to the control group, problem-solving subscores in family functioning in the neurofibromatosis type 1 group showed a moderate positive correlation with depression scores and a moderate negative correlation with child-reported psychosocial quality of life subscores. Additionally, in the neurofibromatosis type 1 group, general family functioning exhibited a moderate positive correlation with total anxiety scores and a moderate negative correlation with child-reported psychosocial quality of life subscores.ConclusionsAddressing family functioning and integrating psychosocial support into neurofibromatosis type 1 management may enhance adaptation, mental health, and long-term quality of life for affected children and their families.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"971-981"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145668747","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":"Before Diagnosing Encephalomyeloradiculoneuropathy, Infectious and Immune Encephalitis, Lymphomas, and Mitochondrial Disorders Must Be Ruled Out.","authors":"Josef Finsterer","doi":"10.1177/08830738261420613","DOIUrl":"10.1177/08830738261420613","url":null,"abstract":"","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1070-1071"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146213103","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":"Syncope as a Presenting Symptom of MuSK-Associated Myasthenia Gravis: A Case Report.","authors":"Danielle Akinsanmi, Roshan Srinivasan, Yaacov Anziska, Steven Pavlakis","doi":"10.1177/08830738251396190","DOIUrl":"10.1177/08830738251396190","url":null,"abstract":"<p><p>ObjectiveDysautonomia in neuromuscular junction disorders is not frequently reported and is not widely recognized. It has been linked to thymoma and several novel antibodies. Yet, autonomic instability can be found even when these features are absent. In MuSK-related myasthenia gravis, clinical autonomic signs have been found in a significant percentage.CaseWe present a report of MuSK-related myasthenia gravis in a teen that presented with strong dysautonomic symptoms, most notably orthostatic intolerance prior to onset of neuromuscular symptoms. The patient experienced a severe disease course because of concurrent autonomic and myasthenic crises, requiring intensive treatment for recovery.DiscussionThe patient is unique in syncopal and autonomic burden prior to myasthenia gravis diagnosis. It is difficult to explain dysautonomia in MuSK. However, current evidence along with this case suggests yet unknown roles with broader systemic effect tied to the MuSK protein.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1027-1029"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708166","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":"Saposin B Deficiency With Neurologic and Hepatobiliary Involvement: Two Patients Expanding the Clinical Spectrum.","authors":"Merve Yoldas Celik, Habibe Koc Ucar, Burcu Köseci, Ezgi Burgac","doi":"10.1177/08830738251398579","DOIUrl":"10.1177/08830738251398579","url":null,"abstract":"<p><p>IntroductionSaposin B deficiency is an ultrarare lysosomal disorder caused by biallelic mutations in the <i>PSAP</i> gene. Although it clinically resembles classical arylsulfatase A (ARSA)-deficient metachromatic leukodystrophy (MLD), ARSA activity remains biochemically normal. Fewer than 30 genetically confirmed patients have been reported to date.Patient PresentationWe describe 2 pediatric patients with homozygous <i>PSAP</i> gene mutations. Both presented with progressive neurodegeneration, spastic quadriparesis, demyelinating peripheral neuropathy, and radiologic findings consistent with MLD. The first patient harbored a canonical splice-site variant (c.577-1G>T), whereas the second carried a recurrent missense mutation (p.Cys241Ser). Notably, the first patient also had a <i>PMP22</i> duplication consistent with coexisting CMT1A. Despite preserved ARSA activity, both patients fulfilled clinical and imaging criteria for MLD. Abdominal imaging revealed gallbladder sludge in both patients, with additional biliary tract dilation in one. These hepatobiliary findings have not been previously reported in genetically confirmed saposin B deficiency, broadening the known phenotypic spectrum.ConclusionThese patients underscore the importance of <i>PSAP</i> gene sequencing in MLD-like presentations with normal ARSA activity and suggest that hepatobiliary involvement may be an underrecognized feature of saposin B-related MLD.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"1014-1019"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145667321","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":"Retrospective, Observational Study of Recovery in Pediatric Recurrent Concussions.","authors":"Viviane Ugalde, Bill Rosen, Sophia Andrews, Lindsay Hagler, Alex Heisler, Ellese Lupori, Jackilen Shannon","doi":"10.1177/08830738251398573","DOIUrl":"10.1177/08830738251398573","url":null,"abstract":"<p><p>Recurrent concussion (RC) studies, especially in young children, are limited and provide conflicting results. We studied 505 children sustaining concussions presenting to an outpatient concussion clinic over a 2-year period, ages 5-18, of which 207 were RCs. Recovery time was defined by days to return to play (RTP), return to learn (RTL), and headache recovery (HR). Recovery was not affected by age at first concussion. Neither loss of consciousness nor posttraumatic amnesia were more frequent in RC. The number of concussions was associated with prolonged HR, <i>P</i> = .03. Prolonged RTP (<i>P</i> = .002) and HR (<i>P</i> = .006) were associated with a longer duration of prior concussion recovery time. Prolonged RTL was associated with a shorter interval between concussions, <i>P</i> = .01. RC was associated with a higher number of total symptoms on initial presentation, endorsed affective symptomology, fatigue and headache, and a history of premorbid self-reported headaches and anxiety. HR was associated with a prior history of self-reported anxiety and depression in RC, whereas, in first concussions (FC) only anxiety was associated. Sleep disturbance on initial presentation was associated with HR in both groups. Although recovery from FC and those with RC exhibit broad variation, RC demonstrates differences in recovery, indicating a need for greater awareness of clinical recovery in this group. Definitions of full recovery from concussion are evolving. Further study of concussion recovery is needed, especially in children with RC.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"982-993"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145668786","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 and Genetic Spectrum of <i>SCN8A</i>-Related Disorders: A Retrospective Study From the Gulf Region.","authors":"Osama Muthaffar, Mashael Alsubhan, Ali Mir, Hind Alsharhan, Mariam Ayed, Mohamed Zakkariah, Reem Elshafie, Amna Al Futaisi, Ahmed Bamaga, Khalid Hundallah, Nebal Saadi, Mohammed Oshi, Brahim Tabarki, Hanin Alsini, Hadi A Helali, Mohamed Babiker, Samar Almuntaser, Anas Alyazidi","doi":"10.1177/08830738251396198","DOIUrl":"10.1177/08830738251396198","url":null,"abstract":"<p><p>This multicenter retrospective study examined the clinical characteristics and outcomes of 26 patients with sodium channel protein type 8 subunit alpha (<i>SCN8A)</i>-related epilepsy and/or neurodevelopmental disorders across the Gulf region. Data were collected from August 2024 to January 2025. Most patients (80.77%) experienced epilepsy onset within the first year of life, with a mean onset age of 8.25 months. Common features included developmental delay (69.57%), epileptic encephalopathy (73.08%), intellectual disability (46.15%), and movement disorders (34.62%). Genetic testing identified <i>SCN8A</i> mutations, primarily loss-of-function variants (65.38%), with missense mutations being most frequent. Seizure types varied, with generalized tonic-clonic (53.84%) and focal seizures (42.31%) being common. Levetiracetam and sodium channel blockers were the most used treatments. A seizure reduction of >50% was achieved in 65.38% of patients, and 26.92% became seizure-free. Loss-of-function mutations were linked to better outcomes. The study underscores the clinical variability of <i>SCN8A</i> disorders and the importance of personalized genetic diagnosis and targeted therapy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"939-948"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654458","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":"Sleep Problems in Children With Duchenne Muscular Dystrophy: The Impact on Motor, Cognitive, and Pulmonary Parameters.","authors":"İrem Akar, İpek Alemdaroğlu Gürbüz, Öznur Tunca, Numan Bulut","doi":"10.1177/08830738251396186","DOIUrl":"10.1177/08830738251396186","url":null,"abstract":"<p><p>ObjectiveThe aim of this study was to investigate the relationship between sleep parameters and motor performance, cognitive status, and pulmonary function in children with Duchenne muscular dystrophy (DMD).MethodChildren with DMD aged 5-12 years who were able to walk independently were included in the study. Sleep problems were assessed using a parent-proxy tool, the Children's Sleep Habits Questionnaire (CSHQ). The Pediatric Sleep Questionnaire-sleep-related breathing disorders (PSQ-SRBD) was used to assess sleep-disordered breathing. Motor performance was evaluated using the 6-minute walk test and muscle strength assessments. Cognitive status was assessed by performing dual tasks, including both motor-motor and cognitive-motor tasks. Spirometry was used to measure pulmonary function.ResultsA total of 39 children with DMD (mean age: 9.03 ± 1.88 years) were included. The mean CSHQ total score was 44.79 ± 6.32 points, and 64.1% (n = 25) of the children had sleep problems. The PSQ-SRBD scores did not indicate a significantly increased risk of SRBD (median: 0.15 (IQR: 0.09-0.27)); only 15.4% (n = 6) of the children were found to be at increased risk. No significant associations were found between sleep problems and motor, cognitive, or pulmonary parameters (<i>p</i> > .05).ConclusionBehavioral sleep problems were found to be highly prevalent in children in the early stages of DMD; however, there was no correlation between sleep problems and clinical parameters. Children with DMD should be screened for sleep problems at an early stage, before any deterioration in clinical parameters or symptoms of sleep disturbances is expected.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"961-970"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145667595","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":"Etiologies of Acute Ataxia in Children: A Systematic Review of 1167 Subjects.","authors":"Collin Jones, Paige Amendum, Michael DelVecchio, Stephen Aronoff","doi":"10.1177/08830738251396192","DOIUrl":"10.1177/08830738251396192","url":null,"abstract":"<p><p>Acute ataxia is a pediatric condition associated with a plethora of etiologies. This systematic review with meta-analysis was undertaken to provide a hierarchal approach to the differential diagnosis of acute ataxia in the pediatric population. Eleven studies, consisting of 1167 children, met inclusion criteria of 10 or more patients, multiple etiologies of ataxia, and diagnostic data including number of patients with each condition. Extracted data were summarized and expected values (EVs) and 95% credible intervals for each disease entity were estimated using a Bayesian methodology. Postinfectious cerebellitis (EV, 38.0%; 95% CredI, 35.3-40.8%), drug intoxication/poisoning (EV, 14.1%; 95% CredI, 12.1-16.1%), central nervous system infection or inflammation (EV, 8.1%; 95% CredI, 6.6-9.8%), neoplasm (EV 7.3%; 95% CredI, 5.9-8.8%), and peripheral neuropathies including Guillain-Barré syndrome (EV, 6.6%; 95% CredI, 5.3-8.1) occurred most commonly and accounted for 74.1% of cases.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"933-938"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145654411","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":"Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study.","authors":"Nicole M Castillo-Huerta, M Gabriel Delgado-Mosqueira, Alicia Diaz-Kuan, Carol Munayco Cortez, José Camones Huerta, Daniel Guillén-Pinto","doi":"10.1177/08830738251399269","DOIUrl":"10.1177/08830738251399269","url":null,"abstract":"<p><p>IntroductionInfantile epileptic spasms syndrome (IESS) is a group of severe encephalopathies during infancy. In recent years, the search for genetic causes has gained importance. This study aimed to describe the genetic causes of IESS in children <2 years of age with access to diagnostic studies.Materials and MethodsA case series study was conducted in 6 pediatric neurology centers in Peru. Medical record data of children <2 years of age diagnosed with IESS were assessed.ResultsFifty-five cases were included, with a median age at diagnosis of 6 months, predominantly male (58.12%, n = 32), and from Lima (52.73%, n = 31). The predominant etiologic category was genetic-structural (38.18%, n = 21), with tuberous sclerosis standing out, followed by structural-congenital (30.90%, n = 17), genetic (27.27%, n = 15), and metabolic (3.63%, n = 2). All presented mixed neurodevelopmental delay, most of them of severe grade (63.64%, n = 35). The predominant electroencephalographic pattern was hypsarrhythmia (67.27%, n = 37). Vigabatrin was the most frequently used control medication (54.55%, n = 30). A total of 58.18% (n = 32) progressed to some type of epilepsy, whereas 23.64% (n = 13) controlled spasms. Twenty-four variants in 21 different genes and 2 chromosomal alterations were found.ConclusionsGenetic etiology was common and diverse in IESS. The genetic-structural category was the most frequent, followed by the structural-congenital category. A wide range of genetic variants was found in one-third of the cases. Prompt genetic identification in IESS is recommended to optimize treatment and improve the prognosis.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":" ","pages":"994-1005"},"PeriodicalIF":1.6,"publicationDate":"2026-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145708031","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}