European Journal of Paediatric Neurology最新文献

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CSF IL-6 in children with neuroinflammatory conditions 脑脊液IL-6与儿童神经炎症的关系
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-30 DOI: 10.1016/j.ejpn.2025.07.013
Valeria Pozzilli , Manori Prasadani Thambiliyagodage , Kshitij Mankad , Austen Worth , Paul Brogan , Sara Ghorashian , Alasdair Bamford , Cheryl Hemingway , Marios Kaliakatsos , Kimberly Gilmour , Yael Hacohen
{"title":"CSF IL-6 in children with neuroinflammatory conditions","authors":"Valeria Pozzilli ,&nbsp;Manori Prasadani Thambiliyagodage ,&nbsp;Kshitij Mankad ,&nbsp;Austen Worth ,&nbsp;Paul Brogan ,&nbsp;Sara Ghorashian ,&nbsp;Alasdair Bamford ,&nbsp;Cheryl Hemingway ,&nbsp;Marios Kaliakatsos ,&nbsp;Kimberly Gilmour ,&nbsp;Yael Hacohen","doi":"10.1016/j.ejpn.2025.07.013","DOIUrl":"10.1016/j.ejpn.2025.07.013","url":null,"abstract":"<div><h3>Introduction</h3><div>Cerebrospinal fluid <strong>(</strong>CSF) cytokines may contribute to immune-mediated processes affecting the central nervous system (CNS). We evaluated CSF cytokine profiles in children with suspected neuroinflammatory conditions to explore their clinical relevance.</div></div><div><h3>Methods</h3><div>Between 2019 and 2024, CSF from children &lt;18 years were analyzed using BD Biosciences cytokine bead array for interleukin-2 (IL-2), IL-4, IL-6, IL-10, interferon-alpha (IFN-α), and tumour necrosis-factor-alpha (TNF-α). Clinical phenotyping was conducted. Serum cytokine levels were measured in cases with abnormal CSF, when available.</div></div><div><h3>Results</h3><div>112 patients were included (median age 6 years [IQR 3.6–11.2]; 54 % male). CSF IL-6 was raised in 35/112 (31 %; median 107 pg/ml, IQR 24–329). No other cytokine was raised without concurrent IL-6. Raised CSF IL-6 occurred in 16/50 acquired neuroimmune conditions (including myelin oligodendrocyte glycoprotein antibody-associated disease, seronegative demyelination, seronegative autoimmune encephalitis, and febrile-infection-related epilepsy syndrome), 5/9 CNS infections; 9/17 monogenic autoinflammatory syndromes, and 5/7 cancer treatment-related neurotoxicities.</div><div>Of the 35 patients with raised CSF IL-6, 21 had serum cytokines tested; 13 (62 %) showed elevated serum IL-6. In demyelinating cases, higher IL-6 was associated with increased CSF protein (p = 0.007). Follow-up CSF samples (n = 16, median 34 days) showed persistent elevation in 7 and normalisation in 9. IL-6 inhibitors (tocilizumab and/or siltuximab) were used in 10 patients with variable outcomes, depending on the underlying etiology.</div></div><div><h3>Conclusions</h3><div>CSF IL-6 was the most frequently elevated cytokine in our cohort, observed across a range of primary and secondary neuroinflammatory disorders. While not diagnostic of a specific condition, its elevation may help guide treatment decisions.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 42-49"},"PeriodicalIF":2.3,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144763776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Neurological manifestations in children with SARS-CoV-2 infection: a French multicentric cohort SARS-CoV-2感染儿童的神经系统表现:法国多中心队列研究
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-23 DOI: 10.1016/j.ejpn.2025.07.010
J. Roux , F. Angoulvant , M. Aubart , S. Auvin , C. Brehin , E. Cheuret , M.-A. Dommergues , F. Girard , D. Graber , V. Hoeusler , E. Lametery , C. Le Stradic , A. Lepine , S. Nguyen , S. Peudenier , C. Pons , A.-L. Poulat , S. Rivera , B. Robert , M. Shum , K. Deiva
{"title":"Neurological manifestations in children with SARS-CoV-2 infection: a French multicentric cohort","authors":"J. Roux ,&nbsp;F. Angoulvant ,&nbsp;M. Aubart ,&nbsp;S. Auvin ,&nbsp;C. Brehin ,&nbsp;E. Cheuret ,&nbsp;M.-A. Dommergues ,&nbsp;F. Girard ,&nbsp;D. Graber ,&nbsp;V. Hoeusler ,&nbsp;E. Lametery ,&nbsp;C. Le Stradic ,&nbsp;A. Lepine ,&nbsp;S. Nguyen ,&nbsp;S. Peudenier ,&nbsp;C. Pons ,&nbsp;A.-L. Poulat ,&nbsp;S. Rivera ,&nbsp;B. Robert ,&nbsp;M. Shum ,&nbsp;K. Deiva","doi":"10.1016/j.ejpn.2025.07.010","DOIUrl":"10.1016/j.ejpn.2025.07.010","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aimed to assess neurological manifestations in French children hospitalized with SARS-CoV-2 infection. Secondary objectives were to evaluate the severity of these presentations and estimate the frequency of long-term neurological sequelae.</div></div><div><h3>Methods</h3><div>A multicenter observational study was conducted, including 71 children hospitalized for neurological manifestations of SARS-CoV-2 infection from January 2020 to March 2022.</div></div><div><h3>Results</h3><div>The median age was 8.7 years (range 4.2–13), with 49 % being girls. The most common neurological manifestations were encephalitis and meningoencephalitis (32 %). Brain imaging was abnormal in 68 % of cases. Half of the children required admission in intensive care unit (ICU). Nearly one-third of the children had neurological symptoms at the end of the follow-up, with cognitive difficulties being the most reported complaints. No significant associations were made between sex, age, neurological comorbidities, and the severity nor presence of sequelae. However, abnormal brain imaging was significantly associated with a higher risk of ICU stay (OR = 8.01 [95 % CI 2.37–27.1], p &lt; 0.01) and with the presence of sequelae at discharge (OR = 4.65 [1.45–14.9], p = 0.011) and last follow-up (OR = 5.14 [1.40–18.9], p = 0.015).</div></div><div><h3>Conclusion</h3><div>Although rare, neurological manifestations in children with SARS-CoV-2 infection can be severe, with encephalitis as the most common clinical presentation. Abnormal brain imaging is a strong prognostic marker of acute severity and long-term neurological and cognitive sequelae. Objective assessment tools and longer follow-up are necessary to evaluate the long-term outcomes in these children.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 57-63"},"PeriodicalIF":2.3,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144763778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of lesion metrics and neurological functions on long-term cognitive outcome in childhood stroke 损伤指标和神经功能对儿童中风长期认知结果的影响
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-23 DOI: 10.1016/j.ejpn.2025.07.012
Saskia Salzmann , Leonie Steiner , Tatia Aprasidze , Andrea Klein , Gabriela Oesch , Hakim Arsany , Maja Steinlin , Regula Everts
{"title":"Impact of lesion metrics and neurological functions on long-term cognitive outcome in childhood stroke","authors":"Saskia Salzmann ,&nbsp;Leonie Steiner ,&nbsp;Tatia Aprasidze ,&nbsp;Andrea Klein ,&nbsp;Gabriela Oesch ,&nbsp;Hakim Arsany ,&nbsp;Maja Steinlin ,&nbsp;Regula Everts","doi":"10.1016/j.ejpn.2025.07.012","DOIUrl":"10.1016/j.ejpn.2025.07.012","url":null,"abstract":"<div><div>The prevalence of cognitive impairment after childhood stroke is high and various risk factors influence long-term cognitive outcome. Whether and how risk factors are associated with cognitive outcome is still incompletely understood. This study investigated how lesion volume, lesion location and neurological functions at discharge, 6 months and 2 years after childhood stroke contribute to long-term cognitive outcome.</div><div>This observational study included patients after childhood arterial ischemic stroke. Long-term cognitive outcome (intelligence, processing speed, working memory) was assessed at least one year after stroke (<em>Md</em> = 3.52, <em>IQR</em> = 5.57). Neurological functions were measured using the pediatric stroke outcome measure at discharge, at 6-month and 2-year follow-up. Magnetic resonance imaging at stroke manifestation was applied to analyze acute to subacute lesion metrics (volume &amp; location).</div><div>43 patients aged 6–23 years (<em>Md</em> = 6.17, <em>IQR</em> = 7.58) were enrolled in the study. Cognitive functions significantly correlated with lesion volume (processing speed: <em>r</em> = −.423, <em>p</em> = .005; working memory: <em>r</em> = −.478, <em>p</em> = .002). Working memory was worse if the left caudate nucleus was involved (<em>U</em> = 284.5, <em>p</em> &lt; .001, <em>d</em> = 1.43). Long-term cognitive outcome correlated with neurological functions at discharge, 6-month and 2-year follow-up, although effects varied depending on the cognitive domain measured (discharge: <em>r</em> = .449, <em>p</em> = .003; 6-month; <em>r</em> = .509 to .538, <em>p</em> &lt;.001; 2-year follow-up: <em>r</em> = .588 to .744, <em>p</em> &lt;.001).</div><div>Long-term cognitive outcome was associated with lesion volume, lesion location and neurological functions. Our study adds to the determination of risk factors for long-term cognitive rehabilitation and highlights the need for the combined evaluation of neurological and cognitive outcome.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 34-41"},"PeriodicalIF":2.3,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144764157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort 与PLA2G6相关的儿童非典型神经轴突营养不良:一项法国队列研究
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-23 DOI: 10.1016/j.ejpn.2025.07.011
Lorenzo Menicucci , Moussa Mane , Agathe Roubertie , Odile Boespflug-Tanguy , Lena Damaj , Aline Delignieres , Laurine Perrin , Diana Rodriguez , Imen Dorboz , Michel Koenig , Lydie Burglen , Nelly Durand , Catherine Sarret
{"title":"Atypical neuroaxonal dystrophy in childhood related to PLA2G6: a French cohort","authors":"Lorenzo Menicucci ,&nbsp;Moussa Mane ,&nbsp;Agathe Roubertie ,&nbsp;Odile Boespflug-Tanguy ,&nbsp;Lena Damaj ,&nbsp;Aline Delignieres ,&nbsp;Laurine Perrin ,&nbsp;Diana Rodriguez ,&nbsp;Imen Dorboz ,&nbsp;Michel Koenig ,&nbsp;Lydie Burglen ,&nbsp;Nelly Durand ,&nbsp;Catherine Sarret","doi":"10.1016/j.ejpn.2025.07.011","DOIUrl":"10.1016/j.ejpn.2025.07.011","url":null,"abstract":"<div><div>Atypical neuroaxonal dystrophy (ANAD) is a rare form of neurodegeneration linked to the <em>PLA2G6</em> gene. Unlike classical infantile neuroaxonal dystrophy (INAD), it occurs later in childhood and seems less progressive. It appears phenotypically different from juvenile form of Parkinson disease linked to <em>PLA2G6</em> (PARK14). A genotype-phenotype correlation has been suggested.</div><div>We describe a large genetically confirmed cohort of pediatric patients with ANAD, describe their clinical symptomatology, brain imaging, other complementary explorations, symptomatic medication and compare to patients reported in the literature.</div><div>Fourteen patients were identified with early childhood onset and slowly progressive cerebello-spastic syndrome with variable dystonia and parkinsonism. Complementary investigations were inconsistently abnormal compared to INAD, with variable iron deposits on brain imaging, infrequent rapid rhythms on EEG and absence of neuronal spheroids on skin biopsy leading to diagnosis difficulties in absence of large molecular analysis. Nine of the seventeen reported variants were novel variants and a relative genotype-phenotype correlation was confirmed.</div><div>This study reports a large cohort of ANAD, providing new insights into this paediatric phenotype; which is less frequently described in the literature compared to INAD or PARK14.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 50-56"},"PeriodicalIF":2.3,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144763777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience 肢体带状肌营养不良症(LGMD)患者的人口统计学、临床和遗传特征:单一三中心经验
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-22 DOI: 10.1016/j.ejpn.2025.07.009
Murat Yildirim Kale , Huseyin Anil Korkmaz , Berk Ozyilmaz , Aysel Çoban Taşkın , Ebru Boluk
{"title":"Demographic, clinical, and genetic characteristics of patients with Limb-Girdle Muscular Dystrophies (LGMD): A single tertiary-center experience","authors":"Murat Yildirim Kale ,&nbsp;Huseyin Anil Korkmaz ,&nbsp;Berk Ozyilmaz ,&nbsp;Aysel Çoban Taşkın ,&nbsp;Ebru Boluk","doi":"10.1016/j.ejpn.2025.07.009","DOIUrl":"10.1016/j.ejpn.2025.07.009","url":null,"abstract":"<div><h3>Objective</h3><div>Given that pathogenic variants related to limb-girdle muscular dystrophies (LGMD) are rarely found in Turkish populations, we aim to characterize pathogenic genetic variants of LGMD associated with age of disease onset, family characteristics, final clinical status, and muscle biopsy findings.</div></div><div><h3>Materials and methods</h3><div>We retrospectively evaluated adult patients with LGMD whose diagnoses were confirmed by genetic and/or muscle biopsy and who were being followed up in the Muscle Diseases Center of Izmir Tepecik Training and Research Hospital. We tested for LGMD genes on the DNA sample obtained from peripheral blood using the next-generation sequencing method on the MiSeq Platform (Illimunia, USA). A minor allele frequency of &lt;0.01 in the GnomAD or ExAC database was used to filter for significant variants. Sanger sequencing was then conducted to validate the findings. Function prediction by SIFT, PolyPhen-2, and PROVEAN or CADD was carried out in missense pathogenic genes.</div></div><div><h3>Results</h3><div>A total of 13 LGMD subtypes were identified in 69 patients. Twenty-eight of the patients were male, and 41 were female. The mean age at disease onset was 14.98 years (minimum 1 year, maximum 30 years). Consanguinity was found in 51 (71.6 %) of the 69 patients. Our study included 23 patients with type R1 (calpainopathy), 16 with type R2 (dysferlinopathy), eight with type R3 (alpha sarcoglycanopathy), two with type R4 (beta sarcoglycanopathy), seven with type R5 (gamma sarcoglycanopathy), five with type R7 (telethoninopathy), one with type R8 (TRIM32), one with type R9 (dystroglycanopathy), one with type R10 (titinopathy), one with type R11 (POMT1), two with type R12 (anoctamin 5), one with type R14 (POMT2), and one with formerly type R18 (desminopathy).</div></div><div><h3>Conclusion</h3><div>The importance of genetic diagnosis for LGMD is increasing, especially because treatment methods are being developed in this field that hold promise for truly treating the disease. This study adds to the emerging pattern of LGMD epidemiology demonstrating that the proportion of LGMD explained by known pathogenic genes is higher than that previously reported.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 64-73"},"PeriodicalIF":2.3,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144779388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation afg2a相关脑病:生酮饮食在癫痫和线粒体动力学调节中的有效性
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-19 DOI: 10.1016/j.ejpn.2025.07.007
Laia Nou-Fontanet , Uliana Musokhranova , Alia Ramírez Camacho , Verónica Delgadillo Chilavert , Víctor Soto Insuga , Luisa Arrabal Fernández , Itziar Alonso-Colmenero , Alexis Arzimanoglou , Ángeles García Cazorla , Alfonso Oyarzabal , Carmen Fons
{"title":"AFG2A-related encephalopathy: Effectiveness of ketogenic diet in epilepsy and mitochondrial dynamics modulation","authors":"Laia Nou-Fontanet ,&nbsp;Uliana Musokhranova ,&nbsp;Alia Ramírez Camacho ,&nbsp;Verónica Delgadillo Chilavert ,&nbsp;Víctor Soto Insuga ,&nbsp;Luisa Arrabal Fernández ,&nbsp;Itziar Alonso-Colmenero ,&nbsp;Alexis Arzimanoglou ,&nbsp;Ángeles García Cazorla ,&nbsp;Alfonso Oyarzabal ,&nbsp;Carmen Fons","doi":"10.1016/j.ejpn.2025.07.007","DOIUrl":"10.1016/j.ejpn.2025.07.007","url":null,"abstract":"<div><div>AFG2A-related encephalopathy (AFG2A-RE) is a neurodevelopmental disorder that may present with drug-resistant epilepsy (DRE). Our aims were: to evaluate the clinical response to a ketogenic diet (KD) in a series of patients with AFG2A-RE and DRE, and to describe the mitochondrial effects in patient's fibroblasts cultured in a KD mimicking medium (KD-MM). This was a collaborative, descriptive, and experimental study involving a total of five patients. The primary outcomes assessed following ketogenic diet (KD) treatment were the percentage of seizure reduction and the parents' global impression of change. Additionally, patient-derived fibroblasts (n = 3) were cultured in a KD-MM to evaluate effects on mitochondrial dynamics and metabolism. The mean age of the patients was 7.9 years, and four were males. All patients presented with developmental and epileptic encephalopathy with DRE, motor impairment, severe intellectual disability, deafness, and microcephaly. In all but one case, the initial epilepsy presentation was infantile epileptic spasms syndrome (IESS), with a mean age at onset of 13.6 months. Four patients received KD treatment for DRE, with seizure reduction rates of 0 %, 30 %, 70 % and 100 %, respectively. Improvement in social interaction improvement was observed in one patient, while improvements in attentional and motor function were noted in two. <em>In vitro</em> studies demonstrated that AFG2A-deficient fibroblasts exhibited altered mitochondrial morphology and dynamics, as well as reduced ATP production and ROS levels. These abnormalities were significantly reversed when the fibroblasts were cultured in KD-MM. In conclusion, this small series of patients with AFG2A-RE showed beneficial effects from KD treatment. Greater seizure control was achieved when the ketogenic diet was initiated during early childhood. These findings are preliminary and validation in multicenter prospective study is required.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 20-26"},"PeriodicalIF":2.3,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144703959","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Assessment of psychosocial adjustment and reduced initiative in children with myotonic dystrophy type 1: a pilot study on the reliability and clinical utility of a short parent-report questionnaire 评估1型肌强直性营养不良儿童的心理社会适应和主动性降低:一项关于简短父母报告问卷的可靠性和临床应用的初步研究
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-19 DOI: 10.1016/j.ejpn.2025.07.008
Dirk J.J. Sweere , Sylvia Klinkenberg , R. Jeroen Vermeulen , Hilde M.H. Braakman , Jos G.M. Hendriksen
{"title":"Assessment of psychosocial adjustment and reduced initiative in children with myotonic dystrophy type 1: a pilot study on the reliability and clinical utility of a short parent-report questionnaire","authors":"Dirk J.J. Sweere ,&nbsp;Sylvia Klinkenberg ,&nbsp;R. Jeroen Vermeulen ,&nbsp;Hilde M.H. Braakman ,&nbsp;Jos G.M. Hendriksen","doi":"10.1016/j.ejpn.2025.07.008","DOIUrl":"10.1016/j.ejpn.2025.07.008","url":null,"abstract":"<div><div>We describe the reliability and clinical utility of the personal adjustment and role skills scale III (PARS-III) for screening of psychosocial adjustment in children with myotonic dystrophy type 1 (DM1). Data of 36 pediatric DM1 patients were included from the Dutch MYODRAFT patient registry. Reliability was assessed using Cronbach's alpha. Associations between PARS-III scores and estimates of brain-related comorbidity and parent-reported physical disease burden were explored as possible factors affecting psychosocial adjustment. PARS-III data of children with DM1 in this study were compared to PARS-III data from children with Duchenne muscular dystrophy in order to describe specificity to the pediatric DM1 population. The PARS-III showed adequate internal consistency. PARS-III total scores correlated with parent-reported symptoms of autism spectrum disorder and attention deficit/hyperactivity disorder and parent-reported physical disease burden. No statistically significant associations were found with intelligence. Parents reported most problems in reduced social activity and reduced initiative. Reduced initiative was not associated with attention deficit/hyperactivity disorder, autism spectrum disorder or reported physical disease burden. Parents of children with DM1 reported more problems in initiative compared to parents of children with Duchenne muscular dystrophy. We conclude that the PARS-III is a reliable instrument for screening psychosocial adjustment in general and deficits in initiative in particular. More research is needed on this clinically relevant symptom as a possible brain-related comorbidity of children with DM1.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 27-33"},"PeriodicalIF":2.3,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144711127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of 5-HT, ET-1, PTX-3, and inflammatory markers with clinical parameters in pediatric migraine patients with patent foramen ovale 小儿偏头痛卵圆孔未闭患者5-HT、ET-1、PTX-3及炎症标志物与临床参数的关系
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-15 DOI: 10.1016/j.ejpn.2025.07.003
Yali Wang, Yingying Wang, Jing Zhang, Chao Jiang
{"title":"Association of 5-HT, ET-1, PTX-3, and inflammatory markers with clinical parameters in pediatric migraine patients with patent foramen ovale","authors":"Yali Wang,&nbsp;Yingying Wang,&nbsp;Jing Zhang,&nbsp;Chao Jiang","doi":"10.1016/j.ejpn.2025.07.003","DOIUrl":"10.1016/j.ejpn.2025.07.003","url":null,"abstract":"<div><h3>Background</h3><div>Pediatric migraine is a debilitating neurological disorder frequently associated with patent foramen ovale (PFO). The roles of vasoactive substances (5-HT, ET-1) and inflammatory markers (PTX-3, TNF-α, CRP) in PFO-related pediatric migraine remain unclear. This study aimed to evaluate their predictive value and associations with clinical parameters.</div></div><div><h3>Methods</h3><div>A prospective cohort study enrolled 149 PFO patients (78 with pediatric migraine, 71 without) and 70 healthy controls. Serum levels of 5-HT, ET-1, PTX-3, TNF-α, PCT, and CRP were measured using ELISA. Clinical data, including pediatric migraine characteristics and PFO features (diameter, right-to-left shunt), were analyzed. Receiver operating characteristic (ROC) curves assessed biomarker performance, and logistic regression identified risk factors.</div></div><div><h3>Results</h3><div>5-HT showed the highest individual predictive accuracy for pediatric migraine (AUC = 0.810), followed by PCT (AUC = 0.786) and PTX-3 (AUC = 0.707). ET-1 exhibited high specificity (99.1 %), while TNF-α and CRP demonstrated high sensitivity (91.1 %). A combined biomarker panel achieved superior performance (AUC = 0.911, specificity = 94.4 %). Elevated 5-HT (adjusted OR = 1.593, p = 0.026) and PTX-3 (adjusted OR = 1.752, p = 0.014) levels were independently associated with pediatric migraine risk after adjusting for covariates.</div></div><div><h3>Conclusion</h3><div>5-HT, PTX-3, and inflammatory markers are promising biomarkers for PFO-related pediatric migraine. A multi-marker approach significantly enhances risk prediction, supporting its potential for clinical stratification and targeted interventions.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 14-19"},"PeriodicalIF":2.3,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144653220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pediatric acute-onset neuropsychiatric syndrome: A single-center retrospective study 儿童急性发作神经精神综合征:一项单中心回顾性研究
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-14 DOI: 10.1016/j.ejpn.2025.07.004
Yaping Zheng, Yu Zhang, Yuhang Li, Jiannan Ma
{"title":"Pediatric acute-onset neuropsychiatric syndrome: A single-center retrospective study","authors":"Yaping Zheng,&nbsp;Yu Zhang,&nbsp;Yuhang Li,&nbsp;Jiannan Ma","doi":"10.1016/j.ejpn.2025.07.004","DOIUrl":"10.1016/j.ejpn.2025.07.004","url":null,"abstract":"<div><h3>Aim</h3><div>To facilitate the diagnosis of Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) in children, we described the clinical features of a PANS cohort and analyzed whether immunotherapy could shorten the symptom duration.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed the medical records of children with PANS at the Children's Hospital of Chongqing Medical University and categorized them into two groups on the basis of whether they received immunotherapy to compare symptom duration.</div></div><div><h3>Results</h3><div>Forty-two patients were included. Thirty-three children (76.2 %) had infection within 4 weeks before onset. Thirty-six (88.1 %) children had obsessive‒compulsive symptoms, 5 children (11.9 %) had eating disorders, and one child had both. Other common clinical manifestations included sleep disturbances (76.2 %, 32/42), academic difficulties (73.8 %, 31/42), irritability (66.7 %, 28/42), developmental regression (54.8 %, 23/42), motor abnormalities (52.4 %, 22/42), hallucinations (52.4 %, 22/42), anxiety (50 %, 21/42), aggression (40.5 %, 17/42), hyperesthesia (31.0 %, 13/42), and emotional lability (23.8 %, 10/42). One child had epileptiform discharges on the electroencephalogram (EEG), while the other 41 children had normal EEGs. Brain magnetic resonance imaging (MRI) and cerebrospinal fluid (CSF) analysis were normal in all the children. Immunotherapy was used in 12 patients, and there was not a significant difference in symptom duration between the two groups (immunotherapy group: median 17, IQR 14–21; nonimmunotherapy group: median 15, IQR 11–20; p = 0.275).</div></div><div><h3>Conclusions</h3><div>PANS is usually triggered by infection and is accompanied by a variety of neuropsychiatric symptoms. In our retrospective small-sample study, immunotherapy did not shorten the duration of symptoms in children with PANS. However, further prospective studies are still needed to confirm its effectiveness.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"58 ","pages":"Pages 1-4"},"PeriodicalIF":2.3,"publicationDate":"2025-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144633664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Outcome of herpes simplex virus encephalitis in children and young people 儿童和青少年单纯疱疹病毒性脑炎的预后。
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-07-01 DOI: 10.1016/j.ejpn.2025.07.006
Jay Shetty (Consultant paediatricNeurologist)
{"title":"Outcome of herpes simplex virus encephalitis in children and young people","authors":"Jay Shetty (Consultant paediatricNeurologist)","doi":"10.1016/j.ejpn.2025.07.006","DOIUrl":"10.1016/j.ejpn.2025.07.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"57 ","pages":"Page A3"},"PeriodicalIF":2.3,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144668888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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