European Journal of Paediatric Neurology最新文献

Evidence-based diagnostic prediction score for pediatric NMDA receptor encephalitis 小儿NMDA受体脑炎循证诊断预测评分。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.12.004

Shimpei Matsuda , Takayuki Mori , Mariko Kasai , Kuniko Kohyama , Hiroya Nishida , Shimpei Abe , Ichiro Kuki , Satoko Kumada , Hirokazu Kurahashi , Sahoko Miyama , Motomasa Suzuki , Jun-ichi Takanashi , Satoshi Usami , Satoshi Yamaguchi , Syudo Yamasaki , Atsushi Nishida , Hiroshi Sakuma

Objective

Early diagnosis and treatment of anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) are crucial for a favorable prognosis. Detecting the causative autoantibodies can be challenging. Probable diagnostic criteria are useful in adults less so in children. We aimed to develop a novel diagnostic score for pediatric NMDARE using cohort data.

Methods

We retrospectively analyzed pediatric participants (0–18 years) with suspected autoimmune encephalitis who underwent cerebrospinal fluid analysis for antineuronal antibodies (Abs) between January 2015 and March 2023. Clinical data, including symptoms and laboratory findings, were analyzed. Symptoms were selected through univariate analysis and then analyzed with multivariate logistic regression model. Resulting odds ratios were used to calculate scores. Scoring systems were developed and evaluated with five-fold validation and univariate logistic regression. One scoring system was selected to create a diagnostic prediction score for pediatric NMDARE.

Results

Of the 504 patients, 264 met the inclusion criteria, and 39 tested positive for NMDAR Abs. Comparing clinical symptoms between cohorts and identified 15 variables significantly different (p < 0.05) to create a pediatric NMDARE prediction score. This score showed 82.1 % sensitivity and 82.2 % specificity, with an 8-point cutoff. The area under the curve was 0.888 (95 % confidence interval: 0.838–0.939). A five-fold cross-validation showed a sensitivity of 95.6 %, specificity of 71.4 %, and kappa coefficient of 0.670.

Conclusion

We developed a novel evidence-based diagnostic prediction score for pediatric NMDARE that incorporates specific clinical features and laboratory findings. This score may improve diagnostic accuracy and guide early therapy in children with suspected autoimmune encephalitis.

目的：早期诊断和治疗抗n -甲基- d -天冬氨酸受体脑炎（NMDARE）对预后至关重要。检测致病自身抗体具有挑战性。可能的诊断标准对成人有用，对儿童则不那么有用。我们的目标是利用队列数据开发一种新的儿科NMDARE诊断评分。方法：我们回顾性分析了2015年1月至2023年3月期间接受脑脊液抗神经元抗体（Abs）分析的疑似自身免疫性脑炎的儿童参与者（0-18岁）。分析临床资料，包括症状和实验室结果。通过单因素分析选择症状，然后采用多因素logistic回归模型进行分析。所得的比值比用于计算得分。采用五重验证和单变量逻辑回归开发和评估评分系统。选择一个评分系统来创建儿科NMDARE的诊断预测评分。结果：在504例患者中，264例符合纳入标准，39例NMDAR抗体检测呈阳性。比较队列之间的临床症状并确定15个变量显着差异(p)结论：我们开发了一种新的基于证据的儿科NMDARE诊断预测评分，该评分结合了特定的临床特征和实验室结果。该评分可提高诊断准确性，指导疑似自身免疫性脑炎患儿的早期治疗。

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引用次数: 0

Corpus callosum biometry in children born very preterm with and without cerebral palsy

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.02.001

Manuel Lubián-Gutiérrez , Monica Crotti , Isabel Benavente-Fernández , Simón Pedro Lubián-López , Nofar Ben Itzhak , Lisa Mailleux , Els Ortibus

Background

Corpus callosum (CC) measurements are used as a biomarker of white matter volume in infants born very preterm (VPT; gestational age≤32 weeks). Although smaller CC measurements are found in both children born VPT and those with cerebral palsy (CP) compared to neurotypical children born at term, there is a lack of research specifically comparing CC measurements in VPT children with and without CP at different ages.

Participants and methods

We compared five CC measurements (total length, and thickness of genu, body, isthmus, and splenium) calculated on the midsagittal plane of T1 magnetic resonance imaging (MRI) in a retrospective case-control study between VPT children with (case) and without CP (control) matched 1:1 by age at MRI at different ages (<12 months age; 5-11 years-old).

Results

Seventy-four VPT children were included (median age 5.8 months [2.1–89.3], 34 females). Children with CP showed shorter length (45.3 mm [40.9–66.2] vs 50.9 mm [44.5–69]; p = 0.01), smaller isthmus thickness (1.8 mm [1.2–2.2] vs 2.2 mm [1.8–4.1]; p = 0.03), and smaller splenium thickness (3.5 [2.7–7.9] vs 5 mm [3.7–9.8]; p = 0.04) compared to children without CP. Comparison of the two groups by age at MRI, showed significantly smaller splenium thickness in both infants (<12 months age) and children (5-11 years-old) with CP than in controls.

Conclusion

Infants and children born VPT with CP had smaller CC measurements than those without CP, with the posterior region being the most affected. Splenium thickness in VPT infants could serve as a biomarker for white matter damage, potentially leading to CP.

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引用次数: 0

Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database study

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.003

Sarah Baer , Mathieu Rebert , Pauline Burger , Jean-Louis Mandel , Nathalie Villeneuve , Marc Gibaud , Cecilia Altuzarra , Frédéric Villega , Claude Cances , Laure Lacan , Sylvie Nguyen , Gaëtan Lesca , Hervé Isnard , Nouha Allani-Essid , Vincent Laugel , Romain Coutelle , Anne de Saint Martin

SLC6A1 (Solute Carrier Family 6 Member 1) variants are associated with SLC6A1-neurodevelopmental disorders (SLC6A1-NDD), which manifest as early-onset epilepsy, intellectual developmental disorder, and autism spectrum disorder. There have been over 300 reported cases so far. A retrospective analysis of 14 patients with de novo SLC6A1 variants was conducted to assess their developmental milestones, epilepsy progression, antiseizure medication, and, for some, a comprehensive neurodevelopmental evaluation. Data from 14 additional families were also collected using the GenIDA participatory database, aiming to better characterize the natural history of genetic forms of NDDs.

Most patients exhibited normal early motor development, but delays in communication and language skills were observed. Their intellectual functioning varied, mostly falling within the low average to moderate intellectual developmental disorder range, with a predominant expressive and receptive language disorder. More than half of the group displayed autistic features, particularly stereotypic behavior. Behavioral disorders such as hyperactivity, anxiety, impulsivity, or inhibition were common concerns for parents.

The first seizures occurred between 14 months and 5 years, mainly presenting as generalized seizures (atonic falls, absences, atypical absences, myoclonic-atonic seizures). EEG results frequently showed bursts of rhythmic delta activity, persisting from childhood to adulthood, with epilepsy primarily responding well to antiseizure medication in most of the reported cases.

This study exhibited a distinct electroclinical and neurodevelopmental phenotype in young children, suggesting the importance of early genetic testing for SLC6A1-NDD diagnosis.

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引用次数: 0

Transition of patients with Duchenne muscular dystrophy from paediatric to adult care: An international Delphi consensus study 杜兴氏肌肉萎缩症患者从儿科护理向成人护理的过渡：国际德尔菲共识研究。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.004

Diana Castro , Thomas Sejersen , Luca Bello , Filippo Buccella , Anita Cairns , Jorge Carranza-del Río , Imelda J.M. de Groot , Lauren Elman , Isabella Inzani , Andrea Klein , Oscar H. Mayer , Hawken Miller , Alessandro Onofri , Alexandra Prufer de Queiroz Campos Araújo , Ulrike Schara-Schmidt , Karsten Vanden Wyngaert , Leanne M. Ward , Jo M. Wilmshurst , Rosaline Quinlivan

Background

Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder characterized by a progressive decline in muscle function, leading to loss of ambulation, respiratory and cardiac failure, and ultimately death. Improvements in DMD management have increased patient life expectancy; therefore, there is a growing requirement for patients to transfer from paediatric to adult care services. There is also a need for clear recommendations to guide this process.

Aim

To establish international consensus guidelines regarding best practices for transitioning patients with DMD from paediatric to adult care and ensuring continuity of treatment.

Methods

Consensus statements were developed using the Delphi process and scored using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The initiative was led by a steering committee (one non-voting chair and two voting members) who recruited 15 expert panellists to form the consensus group. Following an initial systematic literature search, the consensus group voted in three voting rounds. Round 1 (free-text responses to questions) and Round 2 (importance ranking of statements) were completed using an online survey. Round 3 (voting on final consensus statements) took place during a virtual consensus meeting.

Consensus statements

Consensus was reached on 48 statements covering the topics of transition planning, the transition process, post-transfer management, communicating with young people with DMD and supporting them with the transition to adult life.

Conclusion

These consensus statements provide guidelines for improving transition practices for young people with DMD and promoting continued care at a comparable standard in adulthood.

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引用次数: 0

Trauma, coping, and adjustment when parenting a child with Dravet syndrome 养育患有德拉韦特综合症的孩子时的创伤、应对和调整。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.002

Anthony Mercier , Liam Dorris , Andreas Brunklaus , Joseph D. Symonds , Sameer M. Zuberi , Teresa Finch , Galia Wilson , Claire Eldred

Objectives

Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy that requires significant caregiver input across the lifespan. This predominantly falls on parents, who are faced with considerable challenges including physical demands, financial burdens, and sustained pressure on mental wellbeing leading to mental health difficulties. We aimed to develop a grounded theory model for the process of coping and adjustment that occurs when caring for a child who has a diagnosis of DS.

Methods

Using a Constructivist Grounded Theory methodology, we conducted five focus groups, each with 4–6 participants, and 24 in total. They were recruited via convenience sampling through a national Dravet syndrome patient advocacy group. Focus group dialogue was recorded, transcribed, and coded into themes to generate a theory of coping and adjustment that is grounded in the data.

Results

We developed a model of coping and adjustment for parents caring for a child with Dravet syndrome. The model includes contextual factors that impact on parents (loss and insufficient resource). We found a prominent theme of trauma and explored how parents responded to this trauma over time. All parents described a primary coping response reflecting the high levels of stress they had to contend with. Some parents were able to describe a secondary coping style that appeared to support healthier long-term coping and adjustment.

Significance

The study provides novel insight into the ways in which parents cope and adjust to caring for a child with DS, with a focus on adapting to trauma. These insights provide the foundation for the creation of targeted therapeutic interventions for parents of children with developmental and epileptic encephalopathies (DEEs), which we outline and discuss.

目的：Dravet综合征（DS）是一种严重的发育性和癫痫性脑病，在整个生命周期中需要大量的照顾者投入。这主要落在父母身上，他们面临着相当大的挑战，包括身体需求、经济负担和持续的心理健康压力，导致心理健康困难。我们的目的是为照顾患有退行性痴呆的儿童时所发生的应对和调整过程建立一个有根据的理论模型。方法：采用建构主义扎根理论方法，进行5个焦点小组，每个小组4-6人，共24人。他们是通过一个国家德拉韦综合征患者倡导小组通过方便抽样招募的。焦点小组对话被记录、转录并编码为主题，以产生基于数据的应对和调整理论。结果：我们开发了一个模型的应对和适应的父母照顾孩子的德拉韦综合征。该模型包括影响父母的环境因素（损失和资源不足）。我们发现了一个突出的创伤主题，并探讨了父母如何随着时间的推移对这种创伤做出反应。所有父母都描述了一种主要的应对反应，反映了他们必须应对的高水平压力。一些父母能够描述一种二级应对方式，这种方式似乎支持更健康的长期应对和调整。意义：该研究为父母应对和调整照顾残疾儿童的方式提供了新的见解，重点是适应创伤。这些见解为为患有发育性和癫痫性脑病（dee）的儿童的父母提供有针对性的治疗干预提供了基础，我们概述并讨论了这一点。

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引用次数: 0

Efficacy and safety of Nusinersen among children with spinal muscular atrophy from North India: A prospective cohort study (NICE-SMA study) 北印度脊髓性肌肉萎缩症儿童服用 Nusinersen 的疗效和安全性：前瞻性队列研究（NICE-SMA 研究）。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.12.001

Abhishek Pandey , Renu Suthar , Titiksha Sirari , Manisha Malviya , Somya Saxena , Sandhya Yaddanapudi , Shobit Garg , Arushi G. Saini , Jitendra K. Sahu , Naveen Sankhyan

Background

Intra-thecal Nusinersen has been approved for the treatment of Spinal muscular atrophy (SMA). Limited data is available regarding the efficacy and safety of Nusinersen in children with SMA type 2 and 3 from North India.

Objective

To study the efficacy and safety of Nusinersen among children with SMA type 2 and 3 from North India compared to standard of care (SOC) over 12 months.

Methods

Children with a genetically confirmed diagnosis of SMA and ≥2 copies of the SMN2 gene were screened for enrolment in prospective study design. Revised Hammersmith score (RHS) and revised upper limb module (RULM) were assessed every three months. Compound muscle action potentials (CMAPs) at median and ulnar nerves and quality of life (QOL) were performed at baseline and 12 months. Intra-thecal procedure-related and treatment-emergent side effects in children receiving Nusinersen therapy were recorded. Outcome measures at 6 and 12 months were compared between the Nusinersen and SOC groups.

Results

Forty-two children with SMA, mean age of 85 ± 6 months, including 16 in the Nusinersen group and 26 in the SOC group, were enrolled. The mean RHS score in the Nusinersen group increased from the baseline of 35 ± 18 to 38.9 ± 19, and 39.9 ± 17 at 6 and 12 months (p value-0.001), in the SOC group increased from the baseline of 28.8 ± 15, to 29.6 ± 16, and 29.9 ± 17 at 6 and 12 months respectively (p value-0.35). The mean gain in the RHS score over 12 months in the Nusinersen group was significantly higher compared to the SOC group (p-value 0.02). RULM showed significant gain in the Nusinersen group compared to the SOC group over 12 months (p value 0.03). The median and ulnar nerve CMAPs, and QOL were similar in both the groups. A total of 119 intrathecal injections of Nusinersen were given. Most adverse events were mild and related to the intra-thecal procedure.

Conclusion

Intra-thecal Nusinersen therapy among children with late-onset SMA from North India over 12-month duration was associated with improvement in motor abilities as measured by RHS compared to SOC. Intra-thecal Nusinersen was safe and tolerated well.

背景：鞘内注射用奴西那生已被批准用于治疗脊髓性肌萎缩症（SMA）。有关奴西那生在北印度 2 型和 3 型 SMA 患儿中的疗效和安全性的数据有限：研究印度北部 2 型和 3 型 SMA 患儿服用纽西奈森 12 个月后的疗效和安全性，并与标准护理（SOC）进行比较：方法：筛选经基因确诊为 SMA 且 SMN2 基因拷贝数≥2 的儿童，纳入前瞻性研究设计。每三个月评估一次修订版哈默史密斯评分（RHS）和修订版上肢模块（RULM）。在基线和12个月时对正中神经和尺神经的复合肌肉动作电位（CMAP）和生活质量（QOL）进行评估。记录了接受 Nusinersen 治疗的儿童鞘内手术相关副作用和治疗突发副作用。比较了Nusinersen组和SOC组在6个月和12个月时的结果：42名SMA患儿（平均年龄为85 ± 6个月）参加了此次研究，其中纽西奈森组16名，SOC组26名。Nusinersen组的平均RHS评分从基线（35±18）分提高到6个月和12个月时的（38.9±19）分和（39.9±17）分（P值-0.001），SOC组的平均RHS评分从基线（28.8±15）分提高到6个月和12个月时的（29.6±16）分和（29.9±17）分（P值-0.35）。与 SOC 组相比，Nusinersen 组在 12 个月内的 RHS 平均得分显著增加（p 值为 0.02）。与 SOC 组相比，Nusinersen 组在 12 个月内的 RULM 有明显增加（p 值 0.03）。两组患者的正中神经和尺神经CMAP以及QOL相似。共进行了 119 次 Nusinersen 鞘内注射。大多数不良反应较轻，且与鞘内注射过程有关：结论：与SOC相比，对北印度晚发型SMA患儿进行为期12个月的鞘内注射奴西那生治疗与通过RHS测量的运动能力改善有关。鞘内奴西那生安全且耐受性良好。

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引用次数: 0

Cognitive performance and perceived injury symptoms in school-aged children and adolescents after mild traumatic brain injury. A long-term follow-up study

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.02.002

Mari Saarinen , Leena Himanen , Marjaana Raukola-Lindblom , Nina Erkinjuntti , Tero Vahlberg , Anna Rinta-Rahko , Julia Wiklund , Mira Karrasch , Olli Tenovuo , Tuire Lähdesmäki

Background

Mild traumatic brain injuries (mTBIs) are common in childhood and adolescence, but their long-term effects remain poorly understood.

Objective

Examine cognitive performances and perceived injury symptoms, on average, six years after an mTBI in school-aged children and adolescents, and to evaluate longitudinal changes in performance and symptoms during the follow-up period.

Materials and method

Finnish children aged 7–15 years who were cared for mTBI at Turku University Hospital during 2010–2016, with brain imaging and neuropsychological assessment linked to the event available, were identified and targeted for follow-up assessment. We gathered cognitive performance and injury symptom data, as recorded at 1–3 months post-injury, retrospectively from the hospital patient records. Age-appropriate versions of Wechsler Intelligence Scale, Conners Continuous Performance Test II, PedsQL™ Multidimensional Fatigue Scale and semi-structured interview of symptoms were used as outcome measures at follow-up.

Results

Age-adjusted verbal performance scores of the participants deteriorated during follow-up, and were predicted by younger age at injury, male sex, and lower verbal performance scores at the original assessment. At follow-up 64.9 % reported one or more injury symptoms, with 48.6 % of those displaying symptoms at the original assessment continuing to report symptoms at follow-up. The most persistent injury symptoms were verbal difficulties, headache and fatigue.

Conclusions

The results stress the importance of identifying and monitoring children recovering slowly after a hospital-treated mTBI, as they might be at increased risk for long-lasting problems.

{"title":"Cognitive performance and perceived injury symptoms in school-aged children and adolescents after mild traumatic brain injury. A long-term follow-up study","authors":"Mari Saarinen , Leena Himanen , Marjaana Raukola-Lindblom , Nina Erkinjuntti , Tero Vahlberg , Anna Rinta-Rahko , Julia Wiklund , Mira Karrasch , Olli Tenovuo , Tuire Lähdesmäki","doi":"10.1016/j.ejpn.2025.02.002","DOIUrl":"10.1016/j.ejpn.2025.02.002","url":null,"abstract":"<div><h3>Background</h3><div>Mild traumatic brain injuries (mTBIs) are common in childhood and adolescence, but their long-term effects remain poorly understood.</div></div><div><h3>Objective</h3><div>Examine cognitive performances and perceived injury symptoms, on average, six years after an mTBI in school-aged children and adolescents, and to evaluate longitudinal changes in performance and symptoms during the follow-up period.</div></div><div><h3>Materials and method</h3><div>Finnish children aged 7–15 years who were cared for mTBI at Turku University Hospital during 2010–2016, with brain imaging and neuropsychological assessment linked to the event available, were identified and targeted for follow-up assessment. We gathered cognitive performance and injury symptom data, as recorded at 1–3 months post-injury, retrospectively from the hospital patient records. Age-appropriate versions of Wechsler Intelligence Scale, Conners Continuous Performance Test II, PedsQL™ Multidimensional Fatigue Scale and semi-structured interview of symptoms were used as outcome measures at follow-up.</div></div><div><h3>Results</h3><div>Age-adjusted verbal performance scores of the participants deteriorated during follow-up, and were predicted by younger age at injury, male sex, and lower verbal performance scores at the original assessment. At follow-up 64.9 % reported one or more injury symptoms, with 48.6 % of those displaying symptoms at the original assessment continuing to report symptoms at follow-up. The most persistent injury symptoms were verbal difficulties, headache and fatigue.</div></div><div><h3>Conclusions</h3><div>The results stress the importance of identifying and monitoring children recovering slowly after a hospital-treated mTBI, as they might be at increased risk for long-lasting problems.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 159-170"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143403307","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

Difficulty of administration of nusinersen in complex-column spinal muscular atrophy: New alternative technique by means of cervical intrathecal access through an Ommaya reservoir 复杂柱型脊髓性肌萎缩患者使用nusinersen的困难：通过Ommaya贮液器进行宫颈鞘内入路的新技术。

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.01.005

Beatriz Mansilla Fernández , José Francisco Paz Solís , María del Mar García Romero , Miguel A. Fernandez-Garcia , María Román de Aragón , Fernando Carceller Benito , Samuel Ignacio Pascual Pascual

Background

The study aimed to describe a new Ommaya reservoir implantation method in late-onset SMA patients, assessing its safety and effectiveness under standard clinical conditions.

Methods

Prospective observational study. Lumbar intrathecal access was unfeasible due to significant scoliosis and prior spinal surgeries with instrumentation. Patients were infused with Nusinersen through the Ommaya reservoir at Hospital Universitario La Paz (Spain) following the standard dosing protocol.

Results

The cohort was composed of 6 patients, 5 individuals with type 2 SMA (83.3 %), and 1 patient presenting with type 3 SMA. 4 of the patients were functionally sitters (66.7 %) and 2 had lost this ability prior to initiating treatment (non-sitters). Mean treatment was 34.7 months. Patient discharge was done in all the cases within 48 h post-admission; no significant postoperative complications or during administration of nusinersen were reported. Functional progress was observed in all patients. Hammersmith Functional Motor Scale Expanded (HFMSE) showed a low average increase (1.0), attributed to the severity of baseline functional impairments. Improvements in upper extremity motor function, measured by the Revised Upper Limb Module (RULM), were more pronounced, with an average improvement of 3.3. Disability levels as measured by the Egen Klassifikation 2 (EK2) scale, declined by 4.4.

Conclusion

the current study broadens knowledge regarding the efficacy and safety of using an Ommaya reservoir to administer nusinersen in patients with SMA Types 2 and 3. The technique demonstrated rapid, straightforward drug delivery through a subcutaneous needle, maintaining optimal sterility without radiation or the need for a multidisciplinary team.

背景：本研究旨在描述一种新的Ommaya储层植入方法用于迟发性SMA患者，评估其在标准临床条件下的安全性和有效性。方法：前瞻性观察研究。腰椎鞘内通路是不可行的，因为脊柱侧凸和既往的脊柱内固定手术。患者通过拉巴斯大学医院（西班牙）的Ommaya水库按照标准给药方案输注Nusinersen。结果：该队列由6例患者组成，5例为2型SMA(83.3%)， 1例为3型SMA。4名患者（66.7%）是功能性坐着者，2名患者在开始治疗前失去了这种能力（非坐着者）。平均治疗34.7个月。所有病例均在入院后48 h内出院；无明显的术后并发症或服用nusinersen期间的报告。所有患者均观察到功能进展。Hammersmith功能运动量表扩展（HFMSE）显示低平均增加（1.0），归因于基线功能损伤的严重程度。通过修订上肢模块（RULM）测量的上肢运动功能的改善更为明显，平均改善3.3。以Egen分类2 （EK2）量表衡量的残疾水平下降了4.4。结论：目前的研究拓宽了关于使用Ommaya储液器给2型和3型SMA患者注射nusinsen的有效性和安全性的知识。该技术证明了通过皮下针快速、直接地给药，在没有辐射或需要多学科团队的情况下保持最佳的无菌性。

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引用次数: 0

N-Acetyl-leucine in progressive CACNA1A ataxia: A case series

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2024.12.006

K. Martakis , M. Giorgi , M. Spanou , B.A. Neubauer , A. Dinopoulos , A. Hahn

Background

CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.

Cases

Four patients (1 boy, age 15 years, 3 girls, age 5, 9, and 14) received NAL as individualized off-label treatment and were assessed using the SARA Score, SCAFI and CGI-I. In all children NAL resulted in rapid improvement of ataxia, (gait, balance, fine motor and speech - mean SARA improvement at first follow-up: 3.25 points). Improvement was sustained up to 3 years (mean long-term SARA improvement: 5.13 points). SCAFI and CGI-I showed similar improvement. NAL was well-tolerated, without adverse reactions.

Conclusions

N-acetyl-leucine is a novel potential treatment for a so far untreatable rare disease spectrum of CACNA1A-disorders. The sustained benefit may reflect neuroprotective effects seen in other populations. Clinical trials are needed to control the results.

{"title":"N-Acetyl-leucine in progressive CACNA1A ataxia: A case series","authors":"K. Martakis , M. Giorgi , M. Spanou , B.A. Neubauer , A. Dinopoulos , A. Hahn","doi":"10.1016/j.ejpn.2024.12.006","DOIUrl":"10.1016/j.ejpn.2024.12.006","url":null,"abstract":"<div><h3>Background</h3><div>CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.</div></div><div><h3>Cases</h3><div>Four patients (1 boy, age 15 years, 3 girls, age 5, 9, and 14) received NAL as individualized off-label treatment and were assessed using the SARA Score, SCAFI and CGI-I. In all children NAL resulted in rapid improvement of ataxia, (gait, balance, fine motor and speech - mean SARA improvement at first follow-up: 3.25 points). Improvement was sustained up to 3 years (mean long-term SARA improvement: 5.13 points). SCAFI and CGI-I showed similar improvement. NAL was well-tolerated, without adverse reactions.</div></div><div><h3>Conclusions</h3><div>N-acetyl-leucine is a novel potential treatment for a so far untreatable rare disease spectrum of CACNA1A-disorders. The sustained benefit may reflect neuroprotective effects seen in other populations. Clinical trials are needed to control the results.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 64-67"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143099266","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

Spinal cord stimulation (SCS) induced favorable neuromodulative outcome in the treatment of chronic neuropathic pain syndrome in children

IF 2.3 3区医学 Q3 CLINICAL NEUROLOGY

European Journal of Paediatric Neurology

Pub Date : 2025-01-01 DOI: 10.1016/j.ejpn.2025.02.007

Nina Barišić , Jakob Nemir , Romana Perković , Manuela Frančić , Raffaela Lombardi

Background

Chronic pharmaco-resistant pain syndrome (CPS) requires different therapeutic approaches based on the underlying pathology. Spinal cord stimulation (SCS) in children with chronic neuropathic pain syndrome (CNPS) has been scarcely reported in the literature.

Objectives

To present SCS as the rational treatment approach in children with chronic regional and generalized chronic neuropathic pain syndrome, its efficiency, complications and the role in neuromodulation.

We present two children with chronic pain syndrome treated with SCS. A 14-year-old girl at the age of 8 manifested with signs of chronic regional pain syndrome (CRPS) type 1 in wrist and afterwards in knee, associated with allodynia, signs of local autonomic dysfunction, trophic changes of the skin, and loss of ambulation. Nerve biopsy showed inflammatory infiltrates and loss of small unmyelinated C in skin biopsy.

A 17-year-old boy manifested at the age of 9 with clinical signs of acute central (CNS) and peripheral nervous system (PNS) involvement associated with headache, photophobia, ataxia, paraparesis, autonomic dysfunction and intensive generalized global neuropathic pain, especially in the lower extremities. Electromyoneurography (EMNG) at the first exam was compatible with Guillain Barre syndrome and subsequently several times during follow up EMNG and nerve biopsy were compatible with chronic inflammatory demyelinating polyneuropathy (CIDP). Treatment was maintained with i.v. immunoglobulins (IVIG) and steroids without functional improvement.

In both children functional psychosomatic, orthopedic and rheumatologic causes were excluded including painful genetic neuropathies. Seven and eight years after the onset of symptoms and signs of CPS in both children, epidural SCS was implanted, followed by pain relief up to 100 % with complete recovery of motor function, local skin changes and of intraepidermal nerve fiber density in a girl. A boy became ambulant, 50 % up to 75 % pain control was attained, and only partial recovery of sphincter control.

Conclusion

SCS as minimally invasive neurosurgical method may be efficient in resolving chronic pain and in restoring functional abilities of affected extremities. SCS should be considered as a treatment approach in children with chronic regional and generalized (pharmacoresistant) neuropathic pain syndrome resistant to all established treatment modalities.

{"title":"Spinal cord stimulation (SCS) induced favorable neuromodulative outcome in the treatment of chronic neuropathic pain syndrome in children","authors":"Nina Barišić , Jakob Nemir , Romana Perković , Manuela Frančić , Raffaela Lombardi","doi":"10.1016/j.ejpn.2025.02.007","DOIUrl":"10.1016/j.ejpn.2025.02.007","url":null,"abstract":"<div><h3>Background</h3><div>Chronic pharmaco-resistant pain syndrome (CPS) requires different therapeutic approaches based on the underlying pathology. Spinal cord stimulation (SCS) in children with chronic neuropathic pain syndrome (CNPS) has been scarcely reported in the literature.</div></div><div><h3>Objectives</h3><div>To present SCS as the rational treatment approach in children with chronic regional and generalized chronic neuropathic pain syndrome, its efficiency, complications and the role in neuromodulation.</div><div>We present two children with chronic pain syndrome treated with SCS. A 14-year-old girl at the age of 8 manifested with signs of chronic regional pain syndrome (CRPS) type 1 in wrist and afterwards in knee, associated with allodynia, signs of local autonomic dysfunction, trophic changes of the skin, and loss of ambulation. Nerve biopsy showed inflammatory infiltrates and loss of small unmyelinated C in skin biopsy.</div><div>A 17-year-old boy manifested at the age of 9 with clinical signs of acute central (CNS) and peripheral nervous system (PNS) involvement associated with headache, photophobia, ataxia, paraparesis, autonomic dysfunction and intensive generalized global neuropathic pain, especially in the lower extremities. Electromyoneurography (EMNG) at the first exam was compatible with Guillain Barre syndrome and subsequently several times during follow up EMNG and nerve biopsy were compatible with chronic inflammatory demyelinating polyneuropathy (CIDP). Treatment was maintained with i.v. immunoglobulins (IVIG) and steroids without functional improvement.</div><div>In both children functional psychosomatic, orthopedic and rheumatologic causes were excluded including painful genetic neuropathies. Seven and eight years after the onset of symptoms and signs of CPS in both children, epidural SCS was implanted, followed by pain relief up to 100 % with complete recovery of motor function, local skin changes and of intraepidermal nerve fiber density in a girl. A boy became ambulant, 50 % up to 75 % pain control was attained, and only partial recovery of sphincter control.</div></div><div><h3>Conclusion</h3><div>SCS as minimally invasive neurosurgical method may be efficient in resolving chronic pain and in restoring functional abilities of affected extremities. SCS should be considered as a treatment approach in children with chronic regional and generalized (pharmacoresistant) neuropathic pain syndrome resistant to all established treatment modalities.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 186-192"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143438090","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