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SETD1B variants associated with absence seizures
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.12.002
Genfu Zhang , Yue Niu , Zhao Xu , Jiong Qin , Zhixian Yang

Aim

Exploring the association between SETD1B variants and absence seizures (ASs).

Methods

We engaged a small cohort of four pediatric epilepsy patients with identified SETD1B 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 SETD1B alterations, utilizing descriptive statistics for analysis.

Results

The quartet of new cases presented with developmental impediments, cognitive deficits, and epileptic manifestations. Pathogenicity was established in the detected SETD1B 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 SETD1B were prevalent in 46.2 % of the AS-afflicted cohort.

Discussion

Our findings accentuate the potential influence of SETD1B 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.

Conclusion

Our study identified four novel SETD1B variants, highlighting that the importance of AS as part of the phenotype among individuals with SETD1B, 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.
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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 Q3 CLINICAL 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

Introduction

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.

Methods

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.

Results

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 (n = 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.

Discussion

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.
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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 Q3 CLINICAL 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

Objective

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.

Methods

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 (TcCO2) levels.

Results

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 TcCO2 levels decreased in three patients and increased in four.

Conclusions

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.
{"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
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 Q3 CLINICAL 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
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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 Q3 CLINICAL 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
Pathogenic variants in the SETD5 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 SETD5-related disorder by describing 28 previously unreported patients, 26 carrying single nucleotide variants, and 2 with copy number variations involving SETD5 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.
Other psychiatric comorbidities include autism, ADHD, psychotic disorder and other internalizing and externalizing symptoms.
Finally, we conduct a comprehensive review of the available literature, suggesting a possible genotype-phenotype correlation.
SETD5 基因的致病变异会导致一种神经发育障碍,其特征是智力障碍、自闭症和面部畸形,且具有不完全渗透性。迄今为止,尚未发现这种疾病在神经学、精神病学、脑电图和神经影像学方面有明显特征。我们通过描述 28 例之前未报道过的患者(其中 26 例携带单核苷酸变异,2 例涉及 SETD5 基因拷贝数变异),扩展了 SETD5 相关障碍的临床表型,重点研究了神经、精神、脑电图和脑磁共振成像数据。在我们的队列中,神经系统症状包括肌张力低下(39.2%)、过度运动障碍(包括刻板行为和舞蹈症)(21.4%)、步态异常(包括踮脚或行走不稳以及精细动作技能改变)(35.7%)。约 14% 的患者患有癫痫,包括癫痫痉挛、局灶性运动性和非运动性发作等不同类型。在认知表型方面,75%的患者存在智力障碍或全面发育迟缓(视年龄而定,从轻度到重度不等),21.4%的患者表现出边缘智力功能,而个别患者智商正常。其他精神疾病合并症包括自闭症、多动症、精神障碍以及其他内化和外化症状。
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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 Q3 CLINICAL 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

Background

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.

Methods

We retrospectively included patients <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 X2 test.

Results

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 < 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 < 0.001).

Conclusion

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.
背景急性神经精神障碍是遗传和环境特征相互作用导致的一种异质性疾病。其中,小儿急性发作神经精神综合征(PANS)和链球菌感染相关的小儿自身免疫性神经精神障碍(PANDAS)等感染后形式很常见。临床前研究表明,中枢神经系统 T 辅助细胞-17/白细胞介素-17(IL-17)炎症介导的反应在这些疾病的发病机制中起着重要作用。我们分析了急性神经精神疾病患者队列中的血清和脑脊液(CSF)-IL-17浓度。方法我们回顾性纳入了2016年至2020年期间出现急性神经精神症状的<14岁患者。采用定量夹心酶联免疫分析技术测定血清和脑脊液中的IL-17,并将其值与血清和脑脊液对照组进行比较。通过单变量分析、皮尔逊回归检验和 X2 检验确定变量。50.8%被归类为 PANDAS,11.8%被归类为 PANS。与对照组相比,研究组血清 IL-17 的平均浓度更高(p < 0.0001)。我们观察到,青春期后儿童血清(p = 0.05)和脑脊液(p = 0.04)中的 IL-17 均呈上升趋势。CSF中的IL-17耦合浓度高于血清(p = 0.003),在PANDAS和PANS组中具有显著意义(p < 0.001)。IL-17可能与儿童急性神经精神疾病的发病机制有关。有必要进行进一步研究,以验证其作为诊断或预后生物标志物的潜在作用。
{"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}
引用次数: 0
Understanding North Star Ambulatory Assessment total scores and their implications for standards of care using observational data 利用观察数据了解北辰门诊评估总分及其对护理标准的影响
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.09.004
Georgia Stimpson , Meredith K. James , Michela Guglieri , Amy Wolfe , Adnan Manzur , Anna Sarkozy , Giovanni Baranello , Francesco Muntoni , Anna Mayhew , UK NorthStar Clinical Network
NorthStar Ambulatory Assessment (NSAA) total score (TS) is an ordinal scale to evaluate disease progression and treatment response in ambulatory Duchenne Muscular Dystrophy individuals. Clinical management according to standard of care could be enhanced by understanding how changes in the TS could inform standards of care. Here we describe the associated item performance patterns in the NorthStar Database for ranges of NSAA TS and its timed tests (10 m walk/run and rise from floor). We then compare these patterns depending on whether a participant is on an improving/stable (≤2-point loss in the prior year) or declining (>2-point loss in the prior year) trend. These TS and trends are subsequently linked and referenced to therapy standards of care. We included 761 participants from the UK NorthStar observational clinical database between 5 and 16 years, who were on steroids. Differences and trends in item ability, compensations, and times can suggest specific disease complications and lead towards anticipatory therapy recommendations. Families and therapists can benefit from using the TS and trend to guide therapy management.
北星非卧床评估(NSAA)总分(TS)是一种序数量表,用于评估非卧床杜兴氏肌肉萎缩症患者的疾病进展和治疗反应。通过了解TS的变化如何为护理标准提供依据,可以加强根据护理标准进行的临床管理。在此,我们描述了 NorthStar 数据库中 NSAA TS 及其计时测试(10 米步行/跑步和起立)范围的相关项目表现模式。然后,我们将根据参与者是处于改善/稳定(前一年减分≤2 分)趋势还是下降(前一年减分 2 分)趋势来比较这些模式。这些 TS 和趋势随后会与治疗护理标准相联系和参照。我们从英国 NorthStar 观察性临床数据库中纳入了 761 名年龄在 5 到 16 岁之间、服用类固醇的参与者。项目能力、代偿和时间方面的差异和趋势可以提示特定的疾病并发症,从而提出预见性治疗建议。使用TS和趋势来指导治疗管理,可使家庭和治疗师受益匪浅。
{"title":"Understanding North Star Ambulatory Assessment total scores and their implications for standards of care using observational data","authors":"Georgia Stimpson ,&nbsp;Meredith K. James ,&nbsp;Michela Guglieri ,&nbsp;Amy Wolfe ,&nbsp;Adnan Manzur ,&nbsp;Anna Sarkozy ,&nbsp;Giovanni Baranello ,&nbsp;Francesco Muntoni ,&nbsp;Anna Mayhew ,&nbsp;UK NorthStar Clinical Network","doi":"10.1016/j.ejpn.2024.09.004","DOIUrl":"10.1016/j.ejpn.2024.09.004","url":null,"abstract":"<div><div>NorthStar Ambulatory Assessment (NSAA) total score (TS) is an ordinal scale to evaluate disease progression and treatment response in ambulatory Duchenne Muscular Dystrophy individuals. Clinical management according to standard of care could be enhanced by understanding how changes in the TS could inform standards of care. Here we describe the associated item performance patterns in the NorthStar Database for ranges of NSAA TS and its timed tests (10 m walk/run and rise from floor). We then compare these patterns depending on whether a participant is on an improving/stable (≤2-point loss in the prior year) or declining (&gt;2-point loss in the prior year) trend. These TS and trends are subsequently linked and referenced to therapy standards of care. We included 761 participants from the UK NorthStar observational clinical database between 5 and 16 years, who were on steroids. Differences and trends in item ability, compensations, and times can suggest specific disease complications and lead towards anticipatory therapy recommendations. Families and therapists can benefit from using the TS and trend to guide therapy management.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 123-130"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142577936","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
In memoriam Dr. Ilona György 为了纪念伊洛娜博士György
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.09.008
Katalin Hollódy
{"title":"In memoriam Dr. Ilona György","authors":"Katalin Hollódy","doi":"10.1016/j.ejpn.2024.09.008","DOIUrl":"10.1016/j.ejpn.2024.09.008","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages A1-A2"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142744795","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
Immune-mediated neurological syndromes associated with childhood cancers 与儿童癌症相关的免疫介导的神经综合征。
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.10.013
Thomas Rossor , Sanjay Tewari , Jon Gadian , Marios Kaliakatsos , Paola Angelini , Ming Lim
The association of recognisable neurological conditions with an underlying malignancy is well described. In this review we explore the complex interplay of genetic, environmental and tumour factors which contribute to autoimmunity and paraneoplastic conditions. We review the current understanding of the pathogenesis of well recognised paraneoplastic conditions in children including Opsoclonus myoclonus ataxia syndrome, N-Methyl-D Aspartate receptor encephalitis and limbic encephalitis, and the broad approaches to treatment.
Rapid advances in oncological treatment has expanded the arsenal of therapeutic modalities. We explore the broad spectrum of immune therapies in childhood cancer, and the potential neurological complications of these novel therapies, and discuss the fine balance of risk and benefit that these bring.
可识别的神经系统疾病与潜在恶性肿瘤之间的关联已被充分描述。在本综述中,我们将探讨导致自身免疫和副肿瘤性疾病的遗传、环境和肿瘤因素之间复杂的相互作用。我们回顾了目前对儿童中公认的副肿瘤疾病(包括Opsoclonus肌阵挛共济失调综合征、N-甲基-D-天冬氨酸受体脑炎和肢端脑炎)发病机制的理解,以及广泛的治疗方法。肿瘤治疗的快速发展扩大了治疗方法的范围。我们探讨了儿童癌症免疫疗法的广泛应用,以及这些新型疗法的潜在神经并发症,并讨论了这些疗法所带来的风险和益处之间的微妙平衡。
{"title":"Immune-mediated neurological syndromes associated with childhood cancers","authors":"Thomas Rossor ,&nbsp;Sanjay Tewari ,&nbsp;Jon Gadian ,&nbsp;Marios Kaliakatsos ,&nbsp;Paola Angelini ,&nbsp;Ming Lim","doi":"10.1016/j.ejpn.2024.10.013","DOIUrl":"10.1016/j.ejpn.2024.10.013","url":null,"abstract":"<div><div>The association of recognisable neurological conditions with an underlying malignancy is well described. In this review we explore the complex interplay of genetic, environmental and tumour factors which contribute to autoimmunity and paraneoplastic conditions. We review the current understanding of the pathogenesis of well recognised paraneoplastic conditions in children including Opsoclonus myoclonus ataxia syndrome, N-Methyl-D Aspartate receptor encephalitis and limbic encephalitis, and the broad approaches to treatment.</div><div>Rapid advances in oncological treatment has expanded the arsenal of therapeutic modalities. We explore the broad spectrum of immune therapies in childhood cancer, and the potential neurological complications of these novel therapies, and discuss the fine balance of risk and benefit that these bring.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 174-181"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640199","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
Caregiver burden and therapeutic needs in dravet syndrome - A national UK cross-sectional questionnaire study 德拉瓦综合征护理者的负担和治疗需求--英国全国横断面问卷调查研究
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-11-01 DOI: 10.1016/j.ejpn.2024.10.010
Erin Freeman-Jones , Galia Wilson , Claire Eldred , Anthony Mercier , Kirsty Hendry , Adriana Swindler , Joseph D. Symonds , Sameer M. Zuberi , Liam Dorris , Andreas Brunklaus

Background and objectives

Dravet Syndrome is a severe developmental and epileptic encephalopathy with significant care needs for affected individuals and families. Our objective was to characterise the caregiver burden and therapeutic needs of families caring for an individual with Dravet Syndrome from child to adulthood, to examine age related differences in co-morbidities, and identify current gaps in health and social care.

Methods

Cross-sectional national survey conducted by the patient advocacy group Dravet Syndrome UK (DSUK) emailed to registered families caring for an individual with a confirmed diagnosis of Dravet syndrome. To characterise the sample, quantitative data on demographics, diagnostic journey, co-morbidities, therapies, healthcare utilisation, social care and funding, and impact on family life were collected. Qualitative data were analysed using grounded theory to develop a model of impact and service need.

Results

165 out of 381 families (43 %) responded. 90 % of adult Dravet syndrome patients waited >12 months to receive a diagnosis, compared to 25 % families with a young child (p < 0.001). 96 % reported intellectual disability as co-morbidity, more frequently observed in older Dravet syndrome individuals (p < 0.001), alongside autism/autistic-like symptoms (χ2 = 15.3, df = 3 p = 0.001) and scoliosis (χ2 = 28.4, df = 3, p < 0.001). Sleep problems are associated with greater impact on caregiver's mental well-being (χ2 = 13.2, df = 2, p < 0.001). 77 % of families wished more discussions about sudden unexpected death in epilepsy (SUDEP) and 50 % rated the paediatric to adult transition experience as ‘poor’. 90 % of caregivers were unable to continue working as normal with negative impact on their quality of life (p = 0.024) and mental well-being (p = 0.007).

Discussion

Families are profoundly impacted by Dravet syndrome. Their experience changes over time as people with Dravet syndrome become older and present with increasing levels of health, cognitive and behavioural comorbidities. Families will benefit from improved communication with health care professionals, psychosocial interventions and better access to social care.
背景和目的:德拉沃综合征是一种严重的发育性癫痫性脑病,患者及其家庭需要大量的护理工作。我们的目标是描述从儿童到成年期照顾德拉维特综合征患者的家庭的照顾者负担和治疗需求,研究与年龄相关的共病差异,并找出目前在医疗和社会护理方面存在的差距。方法英国德拉维特综合征患者权益组织(DSUK)通过电子邮件向照顾确诊为德拉维特综合征患者的登记家庭进行了横断面全国调查。为了描述样本的特征,收集了有关人口统计学、诊断过程、并发症、治疗、医疗保健利用、社会关怀和资金以及对家庭生活的影响等方面的定量数据。采用基础理论对定性数据进行了分析,以建立影响和服务需求模型。90%的成年德雷维综合征患者等待了12个月才得到诊断,相比之下,25%的幼儿家庭等待了12个月才得到诊断(p< 0.001)。96%的患者称智力残疾为并发症,在年长的德雷维综合征患者中更为常见(p <0.001),此外还有自闭症/类自闭症症状(χ2 = 15.3,df = 3,p = 0.001)和脊柱侧弯(χ2 = 28.4,df = 3,p <0.001)。睡眠问题对照顾者心理健康的影响更大(χ2 = 13.2,df = 2,p = 0.001)。77%的家庭希望就癫痫意外猝死(SUDEP)进行更多讨论,50%的家庭将儿科向成人过渡的经历评为 "差"。90%的护理人员无法继续正常工作,这对他们的生活质量(p = 0.024)和精神健康(p = 0.007)产生了负面影响。随着年龄的增长以及健康、认知和行为方面合并症的增加,家人的经历也会随之改变。改善与医疗保健专业人员的沟通、社会心理干预和更好地获得社会关怀将使家庭受益。
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引用次数: 0
期刊
European Journal of Paediatric Neurology
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