European Journal of Paediatric Neurology最新文献

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Characterization of children with early onset pediatric multiple sclerosis
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.006
Franziska Kauth , Annikki Bertolini , Eva-Maria Wendel , Georgia Koukou , Ines El Naggar , Jena Chung , Matthias Baumann , Christopher Schödl , Christian Lechner , Sandra Bigi , Astrid Blaschek , Jan Georg Hengstler , Mareike Schimmel , Margherita Nosadini , Stefano Sartori , Marco Puthenparampil , Karin Storm van's Gravesande , Anne Drenckhahn , Marc Nikolaus , Birgit Kauffmann , Kevin Rostásy
{"title":"Characterization of children with early onset pediatric multiple sclerosis","authors":"Franziska Kauth ,&nbsp;Annikki Bertolini ,&nbsp;Eva-Maria Wendel ,&nbsp;Georgia Koukou ,&nbsp;Ines El Naggar ,&nbsp;Jena Chung ,&nbsp;Matthias Baumann ,&nbsp;Christopher Schödl ,&nbsp;Christian Lechner ,&nbsp;Sandra Bigi ,&nbsp;Astrid Blaschek ,&nbsp;Jan Georg Hengstler ,&nbsp;Mareike Schimmel ,&nbsp;Margherita Nosadini ,&nbsp;Stefano Sartori ,&nbsp;Marco Puthenparampil ,&nbsp;Karin Storm van's Gravesande ,&nbsp;Anne Drenckhahn ,&nbsp;Marc Nikolaus ,&nbsp;Birgit Kauffmann ,&nbsp;Kevin Rostásy","doi":"10.1016/j.ejpn.2025.01.006","DOIUrl":"10.1016/j.ejpn.2025.01.006","url":null,"abstract":"<div><h3>Background</h3><div>Early onset pediatric multiple sclerosis (EOPMS) provides an early window of opportunity to understand the mechanisms leading to MS.</div></div><div><h3>Objective</h3><div>To investigate clinical, laboratory and imaging differences between children with early onset pediatric MS (&lt;11 years, EOPMS) and late onset pediatric MS (≥11 years, LOPMS).</div></div><div><h3>Methods</h3><div>Mostly prospectively collected data of children with MS including clinical presentation, MRI at onset, time to second relapse, relapse rate, treatment history, and CSF markers were eligible.</div></div><div><h3>Results</h3><div>In total 274 children were included, n = 53 children with EOPMS and n = 221 children with LOPMS. In children with EOPMS both sexes were equally affected, while in LOPMS the female sex was more prevalent (p &lt; 0.001). Presence of additional oligoclonal bands (OCBs) in the cerebrospinal fluid (CSF) was comparable in both age groups (92.3 % vs 89.5 %). Children with EOPMS had more relapses in the first 2 years (p = 0.004). Children with LOPMS had significantly more spinal lesions (p = 0.001). Presence of a prior EBV infection tested in a subset of children with EOPMS (n = 34) was only detected in 27/34 (79 %).</div></div><div><h3>Conclusion</h3><div>Our findings suggest that both groups share important similarities but also important differences such as an increased relapse rate and a higher amount of infratentorial lesions in EOPMS. Furthermore, our results allude to a prior EBV-infection possibly not being an indispensable requirement for the development of MS in children with EOPMS.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 113-120"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143068543","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
Plant-derived cannabinoids for treatment of spasticity in children and adolescents with severe cerebral palsy: Double-blind, placebo-controlled trial 植物源性大麻素治疗严重脑瘫儿童和青少年痉挛:双盲、安慰剂对照试验
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.11.007
Milica Stefanović , Damjan Osredkar , Zvonka Rener-Primec , Jakob Peterlin , Tomislav Laptoš , David Neubauer
{"title":"Plant-derived cannabinoids for treatment of spasticity in children and adolescents with severe cerebral palsy: Double-blind, placebo-controlled trial","authors":"Milica Stefanović ,&nbsp;Damjan Osredkar ,&nbsp;Zvonka Rener-Primec ,&nbsp;Jakob Peterlin ,&nbsp;Tomislav Laptoš ,&nbsp;David Neubauer","doi":"10.1016/j.ejpn.2024.11.007","DOIUrl":"10.1016/j.ejpn.2024.11.007","url":null,"abstract":"<div><h3>Background</h3><div>To assess the efficacy, safety, and tolerability of full-spectrum cannabis oil (FSCO) (CBD:THC ratio of 10:1) for the treatment of spasticity in individuals with spastic cerebral palsy (CP) grades IV and V.</div></div><div><h3>Method</h3><div>A pilot trial to assess the feasibility of FSCO in seven CP patients was followed by a prospective double-blind, placebo-controlled parallel trial, with 53 participants aged 5–25 years, randomised in a 1:1 ratio. The double-blind phase lasted six weeks, followed by the open-label phase of six weeks’ duration. The primary endpoint was a change in spasticity measured by the modified Ashworth Scale. Secondary outcomes were changes in motor function (Gross Motor Function Measure 88 scale), quality of life, safety, and tolerability.</div></div><div><h3>Results</h3><div>There was no significant difference in spasticity, motor function, and quality of life parameters between patients receiving FSCO or placebo. Patients in the FSCO group were significantly drowsier compared to the placebo group. Adverse events were mild to moderate; there were no life-threatening events.</div></div><div><h3>Interpretation</h3><div>This trial suggests FSCO treatment in children with CP is generally well tolerated and safe. It might have benefits on quality of life. No significant change in spasticity was demonstrated with FSCO treatment compared to the placebo.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 18-24"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774497","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
SETD1B variants associated with absence seizures
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.12.002
Genfu Zhang , Yue Niu , Zhao Xu , Jiong Qin , Zhixian Yang
{"title":"SETD1B variants associated with absence seizures","authors":"Genfu Zhang ,&nbsp;Yue Niu ,&nbsp;Zhao Xu ,&nbsp;Jiong Qin ,&nbsp;Zhixian Yang","doi":"10.1016/j.ejpn.2024.12.002","DOIUrl":"10.1016/j.ejpn.2024.12.002","url":null,"abstract":"<div><h3>Aim</h3><div>Exploring the association between <em>SETD1B</em> variants and absence seizures (ASs).</div></div><div><h3>Methods</h3><div>We engaged a small cohort of four pediatric epilepsy patients with identified <em>SETD1B</em> variants and conducted a comprehensive review of 50 documented instances. Clinical profiles were meticulously compiled, and genetic screening was executed via trio-based whole-exome sequencing. Our literature survey centered on AS manifestations linked to <em>SETD1B</em> alterations, utilizing descriptive statistics for analysis.</div></div><div><h3>Results</h3><div>The quartet of new cases presented with developmental impediments, cognitive deficits, and epileptic manifestations. Pathogenicity was established in the detected <em>SETD1B</em> variants. Among the 54 individuals, 26 (accounting for 48.1 %) presented with AS during the course of the disease. The median seizure onset age stood at 44.8 months, with a majority displaying cognitive challenges and autistic traits. Anti-epileptic drug therapies proved efficacious in 70.8 % of the instances. Notably, variants within the N-SET, SET, and post-SET domains of <em>SETD1B</em> were prevalent in 46.2 % of the AS-afflicted cohort.</div></div><div><h3>Discussion</h3><div>Our findings accentuate the potential influence of <em>SETD1B</em> variants in AS pathogenesis, these variants may perturb neuronal excitability, possibly via modulation of histone methylation landscapes. The insights garnered here deepen our grasp of AS's genetic architecture.</div></div><div><h3>Conclusion</h3><div>Our study identified four novel <em>SETD1B</em> variants, highlighting that the importance of <span>AS</span> as part of the phenotype among individuals with <em>SETD1B</em>, demonstrated by 3 novel cases, and supported by review of the literature. Our findings also suggest that the SET domains may play a potential role in the pathogenesis of AS, providing a clue for future mechanistic research.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 68-74"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143100032","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
Experience of nusinersen treatment in advanced spinal muscular atrophy type 1: Characteristics of late responders with delayed treatment efficacy 纽西奈森治疗晚期脊髓性肌萎缩症1型的经验:疗效延迟的晚期应答者的特征
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.02.003
Sachi Tokunaga , Hideki Shimomura , Takuya Horibe , Naoko Taniguchi , Tomoko Lee , Yasuhiro Takeshima
{"title":"Experience of nusinersen treatment in advanced spinal muscular atrophy type 1: Characteristics of late responders with delayed treatment efficacy","authors":"Sachi Tokunaga ,&nbsp;Hideki Shimomura ,&nbsp;Takuya Horibe ,&nbsp;Naoko Taniguchi ,&nbsp;Tomoko Lee ,&nbsp;Yasuhiro Takeshima","doi":"10.1016/j.ejpn.2025.02.003","DOIUrl":"10.1016/j.ejpn.2025.02.003","url":null,"abstract":"<div><h3>Objective</h3><div>Little clinical data is available for advanced cases of spinal muscular atrophy (SMA) type 1, particularly those requiring ventilation support. Therefore, this study aimed to evaluate the effectiveness of nusinersen treatment on motor and respiratory function in advanced cases of SMA type 1.</div></div><div><h3>Methods</h3><div>This observational cohort study included seven patients with advanced SMA type 1, requiring permanent ventilator support and tracheostomy, at Hyogo Medical University School of Medicine Hospital between July 2017 and July 2019. The primary outcome was change in motor function, assessed using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score. Subjective changes, which could not be measured with CHOP-INTEND, were also evaluated. The secondary outcomes included changes in respiratory function, measured by tidal volume (TV) and transcutaneous carbon dioxide (TcCO<sub>2</sub>) levels.</div></div><div><h3>Results</h3><div>Two patients showed a meaningful improvement in CHOP-INTEND scores (an increase of 4 points) after 2–3 years of nusinersen treatment. The remaining five showed changes ranging from 0 to 2 points. Subjective changes were observed in all patients. Patient respiratory function outcomes varied; TV increased in two patients and decreased in five, and TcCO<sub>2</sub> levels decreased in three patients and increased in four.</div></div><div><h3>Conclusions</h3><div>Nusinersen may provide meaningful improvement in motor function in some patients with advanced SMA type 1; however, treatment response may take a while and varies between individuals. Further research is needed to substantiate these findings and identify potential prognostic factors for nusinersen treatment.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 171-177"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143421152","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
Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.007
Lauren Kelada , Stephanie Best , Kristine Pierce , Meagan Allen , Joanna Cobb , Kate Berens , Ilias Goranitis , Elizabeth Emma Palmer , Ingrid E. Scheffer , Katherine B. Howell
{"title":"Fulfilling the needs of caregivers in delivering health services to children with developmental and epileptic encephalopathies","authors":"Lauren Kelada ,&nbsp;Stephanie Best ,&nbsp;Kristine Pierce ,&nbsp;Meagan Allen ,&nbsp;Joanna Cobb ,&nbsp;Kate Berens ,&nbsp;Ilias Goranitis ,&nbsp;Elizabeth Emma Palmer ,&nbsp;Ingrid E. Scheffer ,&nbsp;Katherine B. Howell","doi":"10.1016/j.ejpn.2025.01.007","DOIUrl":"10.1016/j.ejpn.2025.01.007","url":null,"abstract":"<div><h3>Introduction</h3><div>Patients with developmental and epileptic encephalopathies (DEEs) have multiple comorbidities and high healthcare needs. Whether health services meet the needs of this patient population and their families is not well understood. We explored caregiver perspectives on their child's health service use, satisfaction with health services, and priorities for improvement.</div></div><div><h3>Methods</h3><div>Caregivers of patients with DEEs completed online questionnaires containing specifically designed quantitative and qualitative questions to assess their perceptions of their child's health service use over a 12-month period. We analysed the quantitative data using descriptive and non-parametric statistics and the qualitative data using content analysis.</div></div><div><h3>Results</h3><div>Seventy-five caregivers participated. Over 12-months, 52 (69.3 %) patients presented to the emergency department, 70 (93.3 %) saw ≥3 medical professionals, and 45 (60 %) saw ≥3 allied health professionals (<em>n</em> = 45, 60.0 %). Caregivers were satisfied with their child's healthcare when they perceived healthcare professionals to be compassionate and knowledgeable. Caregivers were dissatisfied when they perceived that healthcare professionals were not knowledgeable about DEEs, or they felt unheard, unsupported, needed to advocate for their child's healthcare and disability funding, and perceived care coordination to be lacking. Hospital care and parent psychological support were caregivers' top priorities for improvement to the healthcare system.</div></div><div><h3>Discussion</h3><div>Care coordination and access to knowledgeable healthcare professionals and psychological supports should be prioritised to achieve more appropriate models of care for patients with DEEs. Further research should evaluate models of care which incorporate these features to determine if they provide high value healthcare and improve the patient and family journey.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 147-158"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143278263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Augmented (diagnostic) Reality: A clinical prediction rule for the early recognition and diagnosis of paediatric NMDA-receptor antibody encephalitis
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.03.003
Terrence Thomas , Ming Lim
{"title":"Augmented (diagnostic) Reality: A clinical prediction rule for the early recognition and diagnosis of paediatric NMDA-receptor antibody encephalitis","authors":"Terrence Thomas ,&nbsp;Ming Lim","doi":"10.1016/j.ejpn.2025.03.003","DOIUrl":"10.1016/j.ejpn.2025.03.003","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Trauma at the heart of coping strategies in developmental and epileptic encephalopathies: Insights from Dravet syndrome
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.03.004
Stéphane Auvin
{"title":"Trauma at the heart of coping strategies in developmental and epileptic encephalopathies: Insights from Dravet syndrome","authors":"Stéphane Auvin","doi":"10.1016/j.ejpn.2025.03.004","DOIUrl":"10.1016/j.ejpn.2025.03.004","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Corrigendum to "Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes" [Europ. J. Paediatr. Neurol. 41 (2022) 8-18 doi.org/10.1016/j.ejpn.2022.08.006]. “在抗体相关脱髓鞘综合征时代重新检查小儿多发性硬化症的特征”的勘误表[欧洲]。j . Paediatr。神经学报。41 (2022)8-18 doi.org/10.1016/j.ejpn.2022.08.006]。
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-12-02 DOI: 10.1016/j.ejpn.2024.11.006
Ünsal Yılmaz, Kıvılcım Gücüyener, Merve Yavuz, Ibrahim Oncel, Mehmet Canpolat, Sema Saltık, Olcay Ünver, Ayşegül Neşe Çıtak Kurt, Ayşe Tosun, Sanem Yılmaz, Bilge Özgör, İlknur Erol, Ülkühan Öztoprak, Duygu Aykol Elitez, Meltem Çobanoğulları Direk, Muhittin Bodur, Serap Teber, Banu Anlar
{"title":"Corrigendum to \"Re-examining the characteristics of pediatric multiple sclerosis in the era of antibody-associated demyelinating syndromes\" [Europ. J. Paediatr. Neurol. 41 (2022) 8-18 doi.org/10.1016/j.ejpn.2022.08.006].","authors":"Ünsal Yılmaz, Kıvılcım Gücüyener, Merve Yavuz, Ibrahim Oncel, Mehmet Canpolat, Sema Saltık, Olcay Ünver, Ayşegül Neşe Çıtak Kurt, Ayşe Tosun, Sanem Yılmaz, Bilge Özgör, İlknur Erol, Ülkühan Öztoprak, Duygu Aykol Elitez, Meltem Çobanoğulları Direk, Muhittin Bodur, Serap Teber, Banu Anlar","doi":"10.1016/j.ejpn.2024.11.006","DOIUrl":"https://doi.org/10.1016/j.ejpn.2024.11.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142774496","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 and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder SETD5 相关神经发育障碍多中心队列患者的神经和精神表型
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-11-23 DOI: 10.1016/j.ejpn.2024.11.008
Alessandro De Falco , Angela De Dominicis , Marina Trivisano , Nicola Specchio , Maria Cristina Digilio , Carmelo Piscopo , Valeria Capra , Marcello Scala , Michele Iacomino , Andrea Accogli , Ferruccio Romano , Vincenzo Salpietro , Margherita Mancardi , Pasquale Striano , Francesca Felicia Operto , Janina Gburek-Augustat , Laurence Perrin , Yline Capri , Viviana Lupo , Maurizio Elia , Gaetano Terrone
{"title":"Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorder","authors":"Alessandro De Falco ,&nbsp;Angela De Dominicis ,&nbsp;Marina Trivisano ,&nbsp;Nicola Specchio ,&nbsp;Maria Cristina Digilio ,&nbsp;Carmelo Piscopo ,&nbsp;Valeria Capra ,&nbsp;Marcello Scala ,&nbsp;Michele Iacomino ,&nbsp;Andrea Accogli ,&nbsp;Ferruccio Romano ,&nbsp;Vincenzo Salpietro ,&nbsp;Margherita Mancardi ,&nbsp;Pasquale Striano ,&nbsp;Francesca Felicia Operto ,&nbsp;Janina Gburek-Augustat ,&nbsp;Laurence Perrin ,&nbsp;Yline Capri ,&nbsp;Viviana Lupo ,&nbsp;Maurizio Elia ,&nbsp;Gaetano Terrone","doi":"10.1016/j.ejpn.2024.11.008","DOIUrl":"10.1016/j.ejpn.2024.11.008","url":null,"abstract":"<div><div>Pathogenic variants in the <em>SETD5</em> gene cause a neurodevelopmental disorder characterized by intellectual disability, autism, and facial dysmorphisms, with incomplete penetrance. To date, no distinctive neurological, psychiatric, electroencephalographic, and neuroimaging features have been identified in this condition. We expand the clinical phenotype of <em>SETD5</em>-related disorder by describing 28 previously unreported patients, 26 carrying single nucleotide variants, and 2 with copy number variations involving <em>SETD5</em> gene, focusing on neurological, psychiatric, EEG, and brain MRI data. In our cohort neurological symptoms include hypotonia (39.2 %), hyperkinetic movement disorders including stereotypies and chorea (21.4 %) and gait abnormalities ranging from tip-toe or unsteady walking and alterations of fine motor skills (35.7 %). Epilepsy was present in about 14 % of patients, including different types of seizures as epileptic spasms, focal motor, and non-motor seizures. Concerning the cognitive phenotype, intellectual disability or global developmental delay depending on age, ranging from mild to severe, was present in 75 % of cohort, 21.4 % exhibit borderline intellectual functioning while an individual has a normal intelligence quotient.</div><div>Other psychiatric comorbidities include autism, ADHD, psychotic disorder and other internalizing and externalizing symptoms.</div><div>Finally, we conduct a comprehensive review of the available literature, suggesting a possible genotype-phenotype correlation.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 8-17"},"PeriodicalIF":2.3,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142699941","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
IL-17 in serum and cerebrospinal fluid of pediatric patients with acute neuropsychiatric disorders: Implications for PANDAS and PANS 急性神经精神疾病儿科患者血清和脑脊液中的 IL-17:对 PANDAS 和 PANS 的影响
IF 2.3 3区 医学
European Journal of Paediatric Neurology Pub Date : 2024-11-12 DOI: 10.1016/j.ejpn.2024.11.004
Foiadelli Thomas , Loddo Nicolò , Sacchi Lucia , Viola Santi , D'Imporzano Giulia , Eugenia Spreafico , Orsini Alessandro , Ferretti Alessandro , De Amici Mara , Testa Giorgia , Marseglia Gian Luigi , Savasta Salvatore
{"title":"IL-17 in serum and cerebrospinal fluid of pediatric patients with acute neuropsychiatric disorders: Implications for PANDAS and PANS","authors":"Foiadelli Thomas ,&nbsp;Loddo Nicolò ,&nbsp;Sacchi Lucia ,&nbsp;Viola Santi ,&nbsp;D'Imporzano Giulia ,&nbsp;Eugenia Spreafico ,&nbsp;Orsini Alessandro ,&nbsp;Ferretti Alessandro ,&nbsp;De Amici Mara ,&nbsp;Testa Giorgia ,&nbsp;Marseglia Gian Luigi ,&nbsp;Savasta Salvatore","doi":"10.1016/j.ejpn.2024.11.004","DOIUrl":"10.1016/j.ejpn.2024.11.004","url":null,"abstract":"<div><h3>Background</h3><div>Acute neuropsychiatric disorders are heterogeneous conditions resulting from interaction between genetic and environmental features. Among these, post infectious forms like Pediatric Acute-onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS) are common. Preclinical studies suggest a role of CNS T-helper-17/interleukin-17 (IL-17) inflammatory mediated response in the pathogenesis of these disorders. We analyze serum and cerebral-spinal fluid (CSF)-IL-17 concentrations in a cohort of patients with acute neuropsychiatric disease.</div></div><div><h3>Methods</h3><div>We retrospectively included patients &lt;14 years with acute neuropsychiatric symptoms from 2016 to 2020. IL-17 was determined on serum and CSF by means of quantitative sandwich enzyme immunoassay technique, and values were compared to serum and CSF controls. Variables were identified using univariate analysis with Pearson's regression test and X<sup>2</sup> test.</div></div><div><h3>Results</h3><div>58 subjects were included (67.8 % males, average age: 8.5 years). 50.8 % were classified as PANDAS, 11.8 % as PANS. Mean concentrations of serum IL-17 were higher in the study group compared to controls (p &lt; 0.0001). We observe a trend of increasing IL-17 in post-pubertal children both on serum (p = 0.05) and on CSF (p = 0.04). Coupled IL-17 concentration were higher in the CSF than in serum (p = 0.003), with a marked significance in the PANDAS and PANS group (p &lt; 0.001).</div></div><div><h3>Conclusion</h3><div>IL-17 is elevated in children and adolescents with acute neuropsychiatric conditions, both on serum and CSF. IL-17 could be involved in the pathogenesis of acute neuropsychiatric disorders in childhood. Further studies are necessary to validate its potential role as a diagnostic or prognostic biomarker.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 1-7"},"PeriodicalIF":2.3,"publicationDate":"2024-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142660633","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}
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