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Standardizing qualitative assessments of developing myelination on brain MRI 脑核磁共振成像对髓鞘发育的定性评估标准化。
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.ejpn.2024.09.003
Andreas M. Rauschecker
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引用次数: 0
Reliability and validity of a newly developed PANDAS/PANS questionnaire 新开发的 PANDAS/PANS 问卷的可靠性和有效性
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.ejpn.2024.07.008
Akita Bleibach , Camilla Birgitte Sørensen , Liselotte Skov , Karl Bang Christensen , Nanette Mol Debes

Objective

This study aimed to examine the reliability and validity of a newly developed questionnaire for Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) and Pediatric Acute-onset Neuropsychiatric Syndrome (PANS). The aim was to contribute to future standardisation of screening methods for symptoms and comorbidity, as well as the measurement of symptom severity, daily life impairment, and treatment effectiveness in individuals diagnosed with PANDAS/PANS.

Methods

27 items from the PANDAS/PANS questionnaire concerning symptoms and comorbidities associated with PANDAS/PANS were divided into ten domains. To assess the external validity, 119 PANDAS/PANS questionnaires from a cohort of 65 children with PANDAS/PANS were correlated with three well-known validated questionnaires: the Children's Yale-Brown Obsessive-Compulsive Scale (CY-BOCS), Attention Deficit Hyperactivity Disorder Rating Scale (ADHD-RS), and the Strengths and Difficulties Questionnaire (SDQ). The internal validity of the PANDAS/PANS questionnaire was assessed by correlating the PANDAS/PANS items with the domains.

Results

Internal consistency of the PANDAS/PANS questionnaire was high, measuring moderate to very strong correlations. The external correlations for the PANDAS/PANS questionnaire showed a higher correlation with the ADHD-RS and CY-BOCS (rs ≥ 0.60) than with the SDQ (rs < 0.40).

Conclusion

The validity and clinical feasibility of the PANDAS/PANS questionnaire were confirmed as an effective tool for screening symptoms, assessing symptom severity, and evaluating comorbidity and daily life impairment in individuals with PANDAS/PANS. These findings can potentially enhance the management of PANDAS/PANS patients in both clinical and research settings.

本研究旨在检验新开发的链球菌感染相关小儿自身免疫性神经精神障碍(PANDAS)和小儿急性发作神经精神综合征(PANS)问卷的可靠性和有效性。目的是促进今后症状和合并症筛查方法的标准化,以及对被诊断为 PANDAS/PANS 患者的症状严重程度、日常生活障碍和治疗效果的测量。方法将 PANDAS/PANS 问卷中有关 PANDAS/PANS 相关症状和合并症的 27 个项目分为 10 个领域。为了评估外部效度,我们将 65 名 PANDAS/PANS 患儿的 119 份 PANDAS/PANS 问卷与三份著名的有效问卷进行了比对,这三份问卷是:儿童耶鲁-布朗强迫症量表(CY-BOCS)、注意力缺陷多动障碍评定量表(ADHD-RS)和优势与困难问卷(SDQ)。通过将 PANDAS/PANS 项目与各领域相关联,评估了 PANDAS/PANS 问卷的内部效度。结果PANDAS/PANS 问卷的内部一致性很高,测量出中等至非常强的相关性。PANDAS/PANS 问卷的外部相关性显示,与 ADHD-RS 和 CY-BOCS 的相关性(rs ≥ 0.60)高于与 SDQ 的相关性(rs < 0.40)。结论PANDAS/PANS 问卷的有效性和临床可行性得到证实,是筛查 PANDAS/PANS 患者症状、评估症状严重程度、评估合并症和日常生活障碍的有效工具。这些研究结果有可能加强临床和研究机构对 PANDAS/PANS 患者的管理。
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引用次数: 0
Understanding the scale of the problem: How to standardise the measurement of Childhood Movement Disorders? 了解问题的严重程度:如何对儿童运动障碍进行标准化测量?
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-09-01 DOI: 10.1016/j.ejpn.2024.08.009
Daniel E. Lumsden
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引用次数: 0
Understanding the scale of the problem: How to standardise the measurement of childhood movement disorders? 了解问题的严重程度:如何规范儿童运动障碍的测量?
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-30 DOI: 10.1016/j.ejpn.2024.08.008
Daniel E. Lumsden
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引用次数: 0
Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec 脊髓性肌萎缩症(RESTORE)登记册中患有脊髓性肌萎缩症且有四个或更多 SMN2 基因拷贝的患者接受 onasemnogene abeparvovec 治疗的结果
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-27 DOI: 10.1016/j.ejpn.2024.08.006
Eduardo F. Tizzano , Susana Quijano-Roy , Laurent Servais , Julie A. Parsons , Sharon Aharoni , Arpita Lakhotia , Richard S. Finkel

Objective

We describe outcomes following onasemnogene abeparvovec monotherapy for patients with ≥four survival motor neuron 2 (SMN2) gene copies in RESTORE, a noninterventional spinal muscular atrophy patient registry.

Methods

We evaluated baseline characteristics, motor milestone achievement, post-treatment motor function, use of ventilatory/nutritional support, and adverse events as of December 22, 2022.

Results

At data cutoff, 19 patients in RESTORE had ≥four SMN2 copies and were treated with onasemnogene abeparvovec monotherapy (n=12 [63.2%] four copies; n=7 [36.8%] >four copies). All patients were identified by newborn screening and were reported as asymptomatic at diagnosis. Median age at onasemnogene abeparvovec administration was 3.0 months. Median time from treatment to last recorded visit was 15.4 months, with a range of post-treatment follow-up of 0.03–39.4 months. All 12 children who were assessed for motor development achieved new milestones, including standing alone (n=2) and walking alone (n=5). Five children reported one or more treatment-emergent adverse events (one Grade 3 or greater). No deaths or use of ventilatory/nutritional support were reported.

Conclusions

Real-world findings from the RESTORE registry indicate that patients with ≥four SMN2 gene copies treated with onasemnogene abeparvovec monotherapy demonstrated improvements in motor function. Adverse events experienced by these patients were consistent with previously reported findings.

目的我们描述了非介入性脊髓性肌萎缩症患者登记处RESTORE对运动神经元2(SMN2)基因拷贝数≥4的存活患者进行onasemnogene abeparvovec单药治疗后的结果。方法我们评估了截至2022年12月22日的基线特征、运动里程碑成就、治疗后运动功能、通气/营养支持的使用情况以及不良事件。结果在数据截止时,RESTORE中有19名患者的SMN2基因拷贝数≥4个,并接受了onasemnogene abeparvovec单药治疗(4个拷贝的患者有12人[63.2%];4个拷贝的患者有7人[36.8%])。所有患者均通过新生儿筛查发现,确诊时均无症状。服用onasemnogene abeparvovec时的中位年龄为3.0个月。从接受治疗到最后一次就诊的中位时间为15.4个月,治疗后随访时间为0.03-39.4个月。所有12名接受运动发育评估的儿童都达到了新的里程碑,包括独自站立(2名)和独自行走(5名)。五名儿童报告了一次或多次治疗突发不良事件(一次为 3 级或以上)。结论 RESTORE登记处的实际研究结果表明,接受onasemnogene abeparvovec单药治疗的SMN2基因拷贝≥4个的患者运动功能有所改善。这些患者经历的不良事件与之前报告的结果一致。
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引用次数: 0
Exploring the correlation between paediatric narcolepsy and serum neurofilament light chain levels: An exploratory study 探索小儿嗜睡症与血清神经丝轻链水平之间的相关性:一项探索性研究
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-20 DOI: 10.1016/j.ejpn.2024.08.005
Weifeng Li , Meijun Sun , Chen Chen

Background

The study seeks to assess serum neurofilament light chain (NfL) levels in paediatric narcolepsy-diagnosed patients. Moreover, it aims to explore the correlation between NfL levels and the severity of narcolepsy symptoms, sleep quality, and manifestations of anxiety and depression.

Methods

This retrospective analysis included 98 paediatric narcolepsy cases and 100 controls matched for age and gender. The study focused on comparing serum NfL levels across these groups. Severity of EDS in patients was measured with the Epworth Sleepiness Scale (ESS). Moreover, the Pittsburgh Sleep Quality Index (PSQI), Hamilton Depression Rating Scale-24 (HAMD-24), and Hamilton Anxiety Scale-14 (HAMA-14) were used to assess narcolepsy symptoms, sleep quality, and psychological conditions.

Results

Patients with paediatric narcolepsy had significantly higher serum NfL levels than controls (P < 0.05). Additionally, a positive correlation was found between serum NfL levels and ESS scores (P < 0.001). An independent link between serum NfL and paediatric narcolepsy was established via multiple logistic regression (OR = 0.943, 95 % CI = 0.921–0.993, P = 0.004). Moreover, serum NfL's diagnostic precision for paediatric narcolepsy was evident from the ROC curve area of 0.938 (95 % CI: 0.86–0.99, P < 0.001).

Conclusion

The study implies a positive correlation between increased serum NfL levels and the severity of paediatric narcolepsy. Nevertheless, the causative link between serum NfL levels and paediatric narcolepsy remains uncertain, highlighting the need for larger sample sizes and well-structured cohort studies to offer more definitive.

研究背景本研究旨在评估儿科嗜睡症确诊患者的血清神经丝蛋白轻链(NfL)水平。此外,研究还旨在探讨 NfL 水平与嗜睡症症状严重程度、睡眠质量以及焦虑和抑郁表现之间的相关性:这项回顾性分析包括 98 例儿科嗜睡症病例和 100 例年龄和性别匹配的对照组。研究的重点是比较这些群体的血清 NfL 水平。患者 EDS 的严重程度通过埃普沃思嗜睡量表(ESS)进行测量。此外,还使用匹兹堡睡眠质量指数(PSQI)、汉密尔顿抑郁量表-24(HAMD-24)和汉密尔顿焦虑量表-14(HAMA-14)来评估嗜睡症症状、睡眠质量和心理状况:结果:小儿嗜睡症患者的血清 NfL 水平明显高于对照组(P研究表明,血清 NfL 水平升高与小儿嗜睡症的严重程度呈正相关。然而,血清 NfL 水平与小儿嗜睡症之间的因果关系仍不确定,这突出表明需要更大的样本量和结构良好的队列研究来提供更明确的结论。
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引用次数: 0
Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function 土耳其杜兴氏肌肉萎缩症患者的认知和情绪行为结果及其与运动功能的关系
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-18 DOI: 10.1016/j.ejpn.2024.08.004
Esra Aldırmaz, Numan Bulut, Öznur Yılmaz, İpek Alemdaroğlu-Gürbüz

Purpose

The aim of this study was to examine the cognitive and emotional-behavioural outcomes of Turkish children with Duchenne muscular dystrophy (DMD) in comparison with healthy peers, to determine its relationship with motor functions, and to analyse the difference of cognitive and emotional-behavioural outcomes according to the site of mutations.

Method

Children aged 7–16 years with DMD (n = 68) and age-matched typically developing children (n = 33) were included in the study. The cognitive and emotional-behavioural status and the motor functions were assessed in detail. Children with DMD also divided into two groups as “proximal” and “distal” site mutation groups to compare the cognitive and emotional-behavioural outcomes.

Results

The children with DMD and typically developing children were similar in terms of age and body mass index (p > 0.05). Significant differences were found between children with DMD and typically developing peers in almost all subtests of both cognitive and emotional-behavioural assessments (p < 0.05). Cognitive and emotional-behavioural parameters were weakly correlated with specific motor parameters responsive to cognitive functioning (p < 0.05). Children with distal site mutation performed significantly worser than those with proximal site mutation in particular cognitive subtest (p < 0.05).

Conclusions

It is concluded that comprehensive and detailed evaluation of cognitive and emotional-behavioural features of children with DMD is essential for better implementation of rehabilitation programs to maintain motor function which especially requires cognitive ability, since a Turkish cohort represented challenges in particular domains of cognitive and emotional-behavioural areas.

Clinical trial registration number

NCT05661071.

目的 本研究旨在考察土耳其杜氏肌营养不良症(DMD)患儿与健康同龄人相比在认知和情绪行为方面的结果,确定其与运动功能的关系,并根据突变部位分析认知和情绪行为结果的差异。研究人员详细评估了患儿的认知和情绪行为状况以及运动功能。结果 DMD 患儿与发育正常儿童在年龄和体重指数方面相似(p > 0.05)。在认知和情绪行为评估的几乎所有分测验中,DMD 患儿与发育正常的同龄人之间均存在显著差异(p <0.05)。认知和情绪行为参数与反应认知功能的特定运动参数呈弱相关(p < 0.05)。结论:对DMD患儿的认知和情绪行为特征进行全面而详细的评估,对于更好地实施康复计划以维持运动功能至关重要,而运动功能尤其需要认知能力,因为土耳其队列在认知和情绪行为的特定领域面临挑战。
{"title":"Cognitive and emotional-behavioural outcomes of Turkish Duchenne muscular dystrophy population and its association with motor function","authors":"Esra Aldırmaz,&nbsp;Numan Bulut,&nbsp;Öznur Yılmaz,&nbsp;İpek Alemdaroğlu-Gürbüz","doi":"10.1016/j.ejpn.2024.08.004","DOIUrl":"10.1016/j.ejpn.2024.08.004","url":null,"abstract":"<div><h3>Purpose</h3><p>The aim of this study was to examine the cognitive and emotional-behavioural outcomes of Turkish children with Duchenne muscular dystrophy (DMD) in comparison with healthy peers, to determine its relationship with motor functions, and to analyse the difference of cognitive and emotional-behavioural outcomes according to the site of mutations.</p></div><div><h3>Method</h3><p>Children aged 7–16 years with DMD (n = 68) and age-matched typically developing children (n = 33) were included in the study. The cognitive and emotional-behavioural status and the motor functions were assessed in detail. Children with DMD also divided into two groups as “proximal” and “distal” site mutation groups to compare the cognitive and emotional-behavioural outcomes.</p></div><div><h3>Results</h3><p>The children with DMD and typically developing children were similar in terms of age and body mass index (p &gt; 0.05). Significant differences were found between children with DMD and typically developing peers in almost all subtests of both cognitive and emotional-behavioural assessments (p &lt; 0.05). Cognitive and emotional-behavioural parameters were weakly correlated with specific motor parameters responsive to cognitive functioning (p &lt; 0.05). Children with distal site mutation performed significantly worser than those with proximal site mutation in particular cognitive subtest (p &lt; 0.05).</p></div><div><h3>Conclusions</h3><p>It is concluded that comprehensive and detailed evaluation of cognitive and emotional-behavioural features of children with DMD is essential for better implementation of rehabilitation programs to maintain motor function which especially requires cognitive ability, since a Turkish cohort represented challenges in particular domains of cognitive and emotional-behavioural areas.</p></div><div><h3>Clinical trial registration number</h3><p>NCT05661071.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"52 ","pages":"Pages 86-94"},"PeriodicalIF":2.3,"publicationDate":"2024-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142049791","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
CSF-profile and hypocretin levels in children with narcolepsy type 1 and 2 1 型和 2 型嗜睡症儿童的脑脊液特征和下视素水平
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-17 DOI: 10.1016/j.ejpn.2024.08.003
Maike Josler , Ines El Naggar , Annikki Bertolini , Patrizia Kutz , Claudia Roll , Eva-Maria Wendel , Bernhard Schlüter , Andreas Hahn , Sandy Siegert , Anette Hackenberg , Sameer M. Zuberi , Markus Otto , Kevin Rostásy

Background

Narcolepsy is a rare neurological disease caused by dysfunction of hypocretin-producing neurons. Hypocretin concentrations in the cerebrospinal fluid (CSF) of less than 110 pg/ml are considered pathological in adults.

Objectives

To compare hypocretin levels of children with narcolepsy type 1, type 2 and disease control groups, in addition to a detailed CSF analysis, clinical and polysomnographic parameters.

Methods

In a retrospective, cross-sectional study, children diagnosed with narcolepsy based on clinical and polysomnographic parameters, who received a CSF analysis and hypocretin measurement, in addition to controls, were included. CSF was analyzed for the presence of cells, total protein, lactate, intrathecal synthesis of antibodies against measles, rubella and/or varicella zoster, and oligoclonal bands. All children had a complete sleep study including a multiple sleep latency test (MSLT).

Results

49 children with narcolepsy type 1, 15 children with type 2 and 37 children with other (suspected) neurological diseases were included. CSF routine analysis did not reveal any differences between the three groups. All children with narcolepsy type 1 had hypocretin levels of less than 110 pg/ml (range: 10–101 pg/ml). Hypocretin levels in type 2 patients ranged from 43 to 436 pg/ml (median 157 pg/ml). The median hypocretin level in the control cohort was 365 pg/ml (range: 153–583 pg/ml). In 4 children with narcolepsy type 2 the diagnosis was changed to narcolepsy level 1 because of a CSF hypocretin level of less than 110 pg/ml according to the recently proposed criteria, which consider the measurement of hypocretin in CSF.

Conclusion

Children with narcolepsy type 1 showed significantly lower CSF hypocretin levels than children with narcolepsy type 2 and controls. As suggested by the recently published narcolepsy criteria, hypocretin levels of less than 110 pg/ml should be used as an additional criterion for the presence of narcolepsy type 1 in children.

背景嗜睡症是一种罕见的神经系统疾病,由分泌视网膜下素的神经元功能障碍引起。方法在一项回顾性横断面研究中,纳入了根据临床和多导睡眠图参数被诊断为嗜睡症的儿童,这些儿童除对照组外,还接受了脑脊液分析和低视网膜素测量。脑脊液分析包括细胞、总蛋白、乳酸盐、麻疹、风疹和/或水痘带状疱疹抗体的鞘内合成以及寡克隆带。所有患儿都进行了完整的睡眠检查,包括多重睡眠潜伏期测试(MSLT)。结果包括49名1型嗜睡症患儿、15名2型嗜睡症患儿和37名患有其他(疑似)神经系统疾病的患儿。脑脊液常规分析未发现三组之间存在任何差异。所有 1 型嗜睡症患儿的低视网膜素水平均低于 110 pg/ml(范围:10-101 pg/ml)。2 型患者的低视蛋白水平介于 43 至 436 pg/ml 之间(中位数为 157 pg/ml)。对照组的降视素水平中位数为 365 pg/ml(范围:153-583 pg/ml)。结论1型嗜睡症儿童的脑脊液低视网膜素水平明显低于2型嗜睡症儿童和对照组。正如最近公布的嗜睡症标准所建议的,低视网膜素水平低于 110 pg/ml 应作为儿童罹患 1 型嗜睡症的附加标准。
{"title":"CSF-profile and hypocretin levels in children with narcolepsy type 1 and 2","authors":"Maike Josler ,&nbsp;Ines El Naggar ,&nbsp;Annikki Bertolini ,&nbsp;Patrizia Kutz ,&nbsp;Claudia Roll ,&nbsp;Eva-Maria Wendel ,&nbsp;Bernhard Schlüter ,&nbsp;Andreas Hahn ,&nbsp;Sandy Siegert ,&nbsp;Anette Hackenberg ,&nbsp;Sameer M. Zuberi ,&nbsp;Markus Otto ,&nbsp;Kevin Rostásy","doi":"10.1016/j.ejpn.2024.08.003","DOIUrl":"10.1016/j.ejpn.2024.08.003","url":null,"abstract":"<div><h3>Background</h3><p>Narcolepsy is a rare neurological disease caused by dysfunction of hypocretin-producing neurons. Hypocretin concentrations in the cerebrospinal fluid (CSF) of less than 110 pg/ml are considered pathological in adults.</p></div><div><h3>Objectives</h3><p>To compare hypocretin levels of children with narcolepsy type 1, type 2 and disease control groups, in addition to a detailed CSF analysis, clinical and polysomnographic parameters.</p></div><div><h3>Methods</h3><p>In a retrospective, cross-sectional study, children diagnosed with narcolepsy based on clinical and polysomnographic parameters, who received a CSF analysis and hypocretin measurement, in addition to controls, were included. CSF was analyzed for the presence of cells, total protein, lactate, intrathecal synthesis of antibodies against measles, rubella and/or varicella zoster, and oligoclonal bands. All children had a complete sleep study including a multiple sleep latency test (MSLT).</p></div><div><h3>Results</h3><p>49 children with narcolepsy type 1, 15 children with type 2 and 37 children with other (suspected) neurological diseases were included. CSF routine analysis did not reveal any differences between the three groups. All children with narcolepsy type 1 had hypocretin levels of less than 110 pg/ml (range: 10–101 pg/ml). Hypocretin levels in type 2 patients ranged from 43 to 436 pg/ml (median 157 pg/ml). The median hypocretin level in the control cohort was 365 pg/ml (range: 153–583 pg/ml). In 4 children with narcolepsy type 2 the diagnosis was changed to narcolepsy level 1 because of a CSF hypocretin level of less than 110 pg/ml according to the recently proposed criteria, which consider the measurement of hypocretin in CSF.</p></div><div><h3>Conclusion</h3><p>Children with narcolepsy type 1 showed significantly lower CSF hypocretin levels than children with narcolepsy type 2 and controls. As suggested by the recently published narcolepsy criteria, hypocretin levels of less than 110 pg/ml should be used as an additional criterion for the presence of narcolepsy type 1 in children.</p></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 1-7"},"PeriodicalIF":2.3,"publicationDate":"2024-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142122913","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
Effects of cycling training on balance and gait in children with Duchenne muscular dystrophy: A randomized controlled study 自行车训练对杜氏肌营养不良症儿童平衡和步态的影响:随机对照研究
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-08-11 DOI: 10.1016/j.ejpn.2024.08.001
Numan Bulut , Ali İmran Yalçın , Semra Topuz , İpek Gürbüz , Öznur Yılmaz , Ayşe Karaduman

Background and aims

Although aerobic exercises such as cycling and swimming are increasingly being recommended in Duchenne muscular dystrophy (DMD), their effect on gait and balance parameters is unclear. This study was aimed to investigate the effect of cycling training on balance and spatio-temporal gait parameters in children with DMD.

Methods

Ambulant children (age range: 6.17–11.33 years) were randomly divided into two groups: home-based exercise training applied in the control group (n = 12) while 12 weeks of supervised submaximal lower extremity cycling training in addition to home-based exercise training performed in the study group (n = 11). Gait and balance parameters were evaluated using the GAITRite electronic walkway system and the Bertec Balance Check Screener™, respectively. Assessments were applied before and after 12 weeks of training.

Results

The mean ages of the children in the study and control groups were 8.20 (SD:1.34) and 8.86 (SD:1.30) years, consecutively (p > 0.05). Considering the baseline values, the balance and spatio-temporal gait parameters of the children were similar except for the antero-posterior postural sway on the perturbed surface with eyes open (p > 0.05). There was a significant time x group interaction effect in favor of the study group for the antero-posterior postural sway of children on the normal surface with eyes open (F (1,58) = 12.62, p = 0.002). It was found that the antero-posterior postural sway on the normal surface with eyes open was improved in the study group within group comparison (F (1,10) = 8.50, p = 0.015).

Conclusions

The study showed that both the cycling and the home-based exercise training groups may maintain gait and balance parameters during the study. Adding a cycling training to the rehabilitation program can also provide additional contribution to improve antero-posterior balance.

背景和目的虽然越来越多的杜氏肌营养不良症(DMD)患者被推荐进行骑自行车和游泳等有氧运动,但这些运动对步态和平衡参数的影响尚不清楚。本研究旨在探讨骑自行车训练对 DMD 儿童平衡和时空步态参数的影响。方法将患有 DMD 的儿童(年龄范围:6.17-11.33 岁)随机分为两组:对照组(12 人)进行家庭运动训练,研究组(11 人)在家庭运动训练的基础上进行为期 12 周的有指导的亚极限下肢骑自行车训练。步态和平衡参数分别使用 GAITRite 电子步行系统和 Bertec Balance Check Screener™ 进行评估。结果研究组和对照组儿童的平均年龄分别为 8.20 岁(标准差:1.34 岁)和 8.86 岁(标准差:1.30 岁)(p > 0.05)。考虑到基线值,除了睁眼时在扰动面上的前后姿势摇摆外,儿童的平衡和时空步态参数相似(p >0.05)。在睁眼的情况下,儿童在正常表面上的前后姿势摇摆有明显的时间 x 组间交互效应(F (1,58) = 12.62,p = 0.002)。研究发现,在组内比较中,研究组儿童睁眼时在正常表面上的前胸后仰摇摆得到了改善(F (1,10) = 8.50,p = 0.015)。在康复计划中加入骑自行车训练也能为改善前后平衡做出额外贡献。
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引用次数: 0
Age-appropriate or delayed myelination? Scoring myelination in routine clinical MRI 适龄髓鞘化还是延迟髓鞘化?常规临床磁共振成像中的髓鞘化评分。
IF 2.3 3区 医学 Q3 CLINICAL NEUROLOGY Pub Date : 2024-07-27 DOI: 10.1016/j.ejpn.2024.07.010
Inga Harting , Sven F. Garbade , Stefan D. Roosendaal , Hannah Fels-Palesandro , Clara Raudonat , Alexander Mohr , Nicole I. Wolf

Background

Assessment of myelination is a core issue in paediatric neuroimaging and can be challenging, particularly in settings without dedicated paediatric neuroradiologists. Deep learning models have recently been shown to be able to estimate myelination age in children with normal MRI, but currently lack validation for patients with myelination delay and implementation including pre-processing suitable for local imaging is not trivial. Standardized myelination scores, which have been successfully used as biomarkers for myelination in hypomyelinating diseases, rely on visual, semiquantitative scoring of myelination on routine clinical MRI and may offer an easy-to-use alternative for assessment of myelination.

Methods

Myelination was scored in 13 anatomic sites (items) on conventional T2w and T1w images in controls (n = 253, 0–2 years). Items for the score were selected based on inter-rater variability, practicability of scoring, and importance for correctly identifying validation scans.

Results

The resulting myelination score consisting of 7 T2- and 5 T1-items delineated myelination from term-equivalent to advanced, incomplete myelination which 50 % and 99 % of controls had reached by 19.1 and 32.7 months, respectively. It correctly identified 20/20 new control MRIs and 40/43 with myelination delay, missing one patient with borderline myelination delay at 8.6 months and 2 patients with incomplete T2-myelination of subcortical temporopolar white matter at 28 and 34 months.

Conclusions

The proposed myelination score provides an easy to use, standardized, and versatile tool to delineate myelination normally occurring during the first 1.5 years of life.

背景髓鞘化评估是儿科神经影像学的一个核心问题,具有一定的挑战性,尤其是在没有专门儿科神经放射科医生的情况下。最近的研究表明,深度学习模型能够估算出核磁共振成像正常儿童的髓鞘化年龄,但目前还缺乏对髓鞘化延迟患者的验证,而且包括适合局部成像的预处理在内的实施也并非易事。标准化的髓鞘化评分已成功用作髓鞘功能减退疾病的髓鞘化生物标志物,它依靠常规临床磁共振成像对髓鞘化进行可视化、半定量评分,可为髓鞘化评估提供一种易于使用的替代方法。方法在对照组(n = 253,0-2 岁)的常规 T2w 和 T1w 图像上对 13 个解剖部位(项目)的髓鞘化进行评分。结果由7个T2-和5个T1-项目组成的髓鞘化评分将髓鞘化划分为等效期髓鞘化和晚期不完全髓鞘化,分别有50%和99%的对照组患者在19.1个月和32.7个月时达到了等效期髓鞘化和晚期不完全髓鞘化。它能正确识别 20/20 例新的对照组 MRI 和 40/43 例髓鞘化延迟患者,但漏诊了一名 8.6 个月时有边缘髓鞘化延迟的患者和两名 28 个月和 34 个月时皮层下颞极白质 T2 髓鞘化不完全的患者。
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引用次数: 0
期刊
European Journal of Paediatric Neurology
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