Brain & Development最新文献

Video game exposure in children with epilepsy: EEG and clinical findings

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-03 DOI: 10.1016/j.braindev.2025.104329

Hande Gazeteci Tekin , Pınar Edem

Objective

To investigate the effects of video game exposure on pediatric epilepsy patients, focusing on electroencephalography (EEG) and clinical outcomes.

Methods

A total of 94 pediatric epilepsy patients aged 6–18 years (juvenile idiopathic generalized epilepsy, childhood absence epilepsy, self-limited idiopathic focal epilepsy [SeLEAS and SeLECTS]) and 57 non-epileptic controls were enrolled. EEG recordings were obtained while patients were awake, asleep, and during video game play. The impact of video games was analyzed across different epilepsy subgroups and according to epilepsy control status.

Results

Twenty-five patients with EEG deterioration in the entire group, three of whom were from the control group (p = 0.032). Among juvenile idiopathic generalized epilepsy patients, 2 of 21 controlled and 6 of 11 uncontrolled patients were adversely affected by video games (p = 0.01). In the SeLECTS group, none of the controlled patients and 3 of 11 uncontrolled patients showed adverse effects (p = 0.063). In the absence epilepsy and SeLEAS groups, epilepsy status did not significantly affect video game response (p = 0.250, p = 0.603). Patients with pattern sensitivity and photosensitivity had a higher risk of EEG deterioration during video game play than those without these sensitivities.

Conclusions

Playing selected video games is safer for patients with juvenile idiopathic generalized epilepsies and the SeLECTS group when precautions are taken, and both EEG and clinical conditions are under control. However, video games pose a risk for patients with absence epilepsy and SeLEAS, regardless of epilepsy control status. These findings underscore the need for individualized assessments and tailored recommendations for video game exposure in pediatric epilepsy patients.

{"title":"Video game exposure in children with epilepsy: EEG and clinical findings","authors":"Hande Gazeteci Tekin , Pınar Edem","doi":"10.1016/j.braindev.2025.104329","DOIUrl":"10.1016/j.braindev.2025.104329","url":null,"abstract":"<div><h3>Objective</h3><div>To investigate the effects of video game exposure on pediatric epilepsy patients, focusing on electroencephalography (EEG) and clinical outcomes.</div></div><div><h3>Methods</h3><div>A total of 94 pediatric epilepsy patients aged 6–18 years (juvenile idiopathic generalized epilepsy, childhood absence epilepsy, self-limited idiopathic focal epilepsy [SeLEAS and SeLECTS]) and 57 non-epileptic controls were enrolled. EEG recordings were obtained while patients were awake, asleep, and during video game play. The impact of video games was analyzed across different epilepsy subgroups and according to epilepsy control status.</div></div><div><h3>Results</h3><div>Twenty-five patients with EEG deterioration in the entire group, three of whom were from the control group (<em>p</em> = 0.032). Among juvenile idiopathic generalized epilepsy patients, 2 of 21 controlled and 6 of 11 uncontrolled patients were adversely affected by video games (<em>p</em> = 0.01). In the SeLECTS group, none of the controlled patients and 3 of 11 uncontrolled patients showed adverse effects (<em>p</em> = 0.063). In the absence epilepsy and SeLEAS groups, epilepsy status did not significantly affect video game response (<em>p</em> = 0.250, <em>p</em> = 0.603). Patients with pattern sensitivity and photosensitivity had a higher risk of EEG deterioration during video game play than those without these sensitivities.</div></div><div><h3>Conclusions</h3><div>Playing selected video games is safer for patients with juvenile idiopathic generalized epilepsies and the SeLECTS group when precautions are taken, and both EEG and clinical conditions are under control. However, video games pose a risk for patients with absence epilepsy and SeLEAS, regardless of epilepsy control status. These findings underscore the need for individualized assessments and tailored recommendations for video game exposure in pediatric epilepsy patients.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 2","pages":"Article 104329"},"PeriodicalIF":1.4,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143182182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Reply to “Levacetylleucine a game changer for Niemann-Pick disease type-C”

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.104301

Muneaki Matsuo , Yoichi Ishitsuka , Tetsumi Irie

引用次数: 0

Letter to the editor: “Levacetylleucine a game changer for Niemann pick disease type-C” 致编辑的信：《左乙酰亮氨酸改变了尼曼挑剔病 C 型的治疗方法

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.10.002

Mobeen Abid, Shanzay Akhtar, Mirza Ahmed Baig

引用次数: 0

Which aEEG patterns could predict neurodevelopmental outcome in preterm neonates? – A systematic review 哪些脑电图模式可预测早产新生儿的神经发育结果？- 系统综述。

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.104315

Mariana Martins Dantas Santos , Isadora Souza Eilers , Taís Michele Werle , Gabriel Lorentz Trein , Lara Michel da Silva , Luiz Eduardo Leal Canton , Magda Lahorgue Nunes

Objective

Amplitude-integrated electroencephalogram (aEEG) enables continuous and simplified bedside monitoring of brain function. This review aims to investigate aEEG's value as a predictor of neurodevelopment outcome in preterm infants.

Methods

PubMed, Embase and Web of Science were systematically searched according to the PRISMA in April 2023 and updated in October 2023. The protocol was registered on PROSPERO platform and the methodological quality of studies was analyzed using the Newcastle–Ottawa Scale (NOS).

Results

Nineteen articles (18 cohort and 1 case-control study) were included, reporting the recording of aEEG in 2074 preterm neonates and its association to neurodevelopment outcome. In most studies, aEEG recording started within 72 h of life. The mean NOS score for prospective and retrospective cohort studies were 6 (4–7, median 6) and 6.6 (6–7, median 7), respectively. The case-control study received 7 stars. Burst suppression and low voltage background were associated with poor neurodevelopmental outcome, while normal background and established cyclicity was correlated with a favorable outcome, especially when they occurred in the first week of life.

Conclusion

The background patterns and cyclicity of aEEG seems to be reliable patterns to help predict neurodevelopmental outcome in premature infants, especially when monitorization started early.

目的：波幅集成脑电图（aEEG）能够实现对脑功能的连续、简化的床边监测。本综述旨在探讨aEEG作为早产儿神经发育结局预测指标的价值。方法：系统检索PubMed、Embase和Web of Science，检索时间为2023年4月和2023年10月。该方案在PROSPERO平台上注册，并使用纽卡斯尔-渥太华量表（NOS）对研究的方法学质量进行分析。结果：共纳入19篇文献（18篇队列研究和1篇病例对照研究），报道了2074例早产儿的aEEG记录及其与神经发育结局的关系。在大多数研究中，aEEG记录开始于生命72小时内。前瞻性和回顾性队列研究的NOS平均评分分别为6（4-7，中位数6）和6.6（6-7，中位数7）。病例对照研究获得7颗星。突发抑制和低电压背景与不良的神经发育结果相关，而正常背景和已建立的循环与良好的结果相关，特别是当它们发生在生命的第一周时。结论：aEEG的背景模式和周期似乎是帮助预测早产儿神经发育结局的可靠模式，特别是当监测开始较早时。

{"title":"Which aEEG patterns could predict neurodevelopmental outcome in preterm neonates? – A systematic review","authors":"Mariana Martins Dantas Santos , Isadora Souza Eilers , Taís Michele Werle , Gabriel Lorentz Trein , Lara Michel da Silva , Luiz Eduardo Leal Canton , Magda Lahorgue Nunes","doi":"10.1016/j.braindev.2024.104315","DOIUrl":"10.1016/j.braindev.2024.104315","url":null,"abstract":"<div><h3>Objective</h3><div>Amplitude-integrated electroencephalogram (aEEG) enables continuous and simplified bedside monitoring of brain function. This review aims to investigate aEEG's value as a predictor of neurodevelopment outcome in preterm infants.</div></div><div><h3>Methods</h3><div>PubMed, Embase and Web of Science were systematically searched according to the PRISMA in April 2023 and updated in October 2023. The protocol was registered on PROSPERO platform and the methodological quality of studies was analyzed using the Newcastle–Ottawa Scale (NOS).</div></div><div><h3>Results</h3><div>Nineteen articles (18 cohort and 1 case-control study) were included, reporting the recording of aEEG in 2074 preterm neonates and its association to neurodevelopment outcome. In most studies, aEEG recording started within 72 h of life. The mean NOS score for prospective and retrospective cohort studies were 6 (4–7, median 6) and 6.6 (6–7, median 7), respectively. The case-control study received 7 stars. Burst suppression and low voltage background were associated with poor neurodevelopmental outcome, while normal background and established cyclicity was correlated with a favorable outcome, especially when they occurred in the first week of life.</div></div><div><h3>Conclusion</h3><div>The background patterns and cyclicity of aEEG seems to be reliable patterns to help predict neurodevelopmental outcome in premature infants, especially when monitorization started early.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104315"},"PeriodicalIF":1.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142916372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Motor function and compound muscle action potential amplitude in children with spinal muscular atrophy treated with nusinersen nusinersen治疗脊髓性肌萎缩症患儿的运动功能及复合肌动作电位振幅。

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.104316

Yingshuang Peng, Lianying Feng, Jinfeng Wu, Qianyun Zhou, Hailang Liu, Jin Chen, Xiaojie Song, Wei Han, Fuyi Zhang, Ping Yuan, Zhengxiong Yao, Lingling Xie, Mei Li, Li Jiang, Siqi Hong

Background

Disease-modifying therapies can improve motor function in patients with spinal muscular atrophy (SMA), but efficacy varies between individuals. The aim was to evaluate the efficacy and safety of nusinersen treatment in children with SMA and to investigate prognostic factors.

Methods

Motor function, compound muscle action potential (CMAP), and other indicators were prospectively collected before and 14 months after nusinersen treatment.

Results

A total of 55 children were included in our study to assess safety. 41 patients (with at least 6 months of nusinersen treatment) were included in the final efficacy analyses, with a median age at first treatment of 4.2 years. After 14 months of treatment with nusinersen, motor function improved, with increases in CHOP INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders), HINE-2 (Hammersmith Infant Neurological Exam-Part 2), HFMSE (Hammersmith Functional Motor Scale-Expanded) and RULM (Revised Upper Limb Module) of 5.5 (95 % CI –2.4–13.4), 0.8 (95 % CI –0.2–1.9), 5.0 (95 % CI 2.5–7.4) and 2.4 (95 % CI 0.7–4.1) points, respectively. The CMAP amplitudes of the bilateral tibial, median and ulnar nerves increased, with greatest improvements of 0.87 ± 1.41 mV, 1.08 ± 1.71 mV and 0.59 ± 1.01 mV, respectively. Spearman correlation analysis showed that age at first treatment, disease duration, joint contractures and scoliosis were associated with treatment efficacy (r = −0.4–0.7, P < 0.05). Subgroup analyses showed that the mean HFMSE and RULM scores improved in the Physical therapy group (P < 0.05).

Conclusion

Early treatment, mild bone and joint complications, and regular rehabilitation training were associated with better outcomes. The other motor-related functions, such as respiratory and bullar function, and prognostic factors should be studied in the future.

背景：疾病改善疗法可以改善脊髓性肌萎缩症（SMA）患者的运动功能，但疗效因人而异。目的是评估nusinersen治疗SMA儿童的疗效和安全性，并探讨预后因素。方法：前瞻性采集nusinersen治疗前和治疗后14个月的运动功能、复合肌动作电位（CMAP）等指标。结果：我们共纳入55名儿童进行安全性评估。41例患者（nusinersen治疗至少6个月）纳入最终疗效分析，首次治疗时的中位年龄为4.2岁。nusinersen治疗14个月后，运动功能得到改善，CHOP INTEND（费城儿童医院婴儿神经肌肉疾病测试），HINE-2（哈默史密斯婴儿神经检查-第2部分），HFMSE（哈默史密斯功能运动量表扩展）和RULM（修订上肢模块）分别增加5.5 (95% CI -2.4-13.4), 0.8 (95% CI -0.2-1.9), 5.0 （95% CI 2.5-7.4）和2.4 （95% CI 0.7-4.1）点。双侧胫神经、正中神经和尺神经的CMAP振幅增加，最大增幅分别为0.87±1.41 mV、1.08±1.71 mV和0.59±1.01 mV。Spearman相关分析显示，首次治疗年龄、病程、关节挛缩、脊柱侧凸与治疗效果相关（r = -0.4 ~ 0.7， P）。结论：早期治疗、轻度骨关节并发症、定期康复训练与治疗效果相关。其他运动相关的功能，如呼吸和脾脏功能，以及预后因素应在未来进行研究。

{"title":"Motor function and compound muscle action potential amplitude in children with spinal muscular atrophy treated with nusinersen","authors":"Yingshuang Peng, Lianying Feng, Jinfeng Wu, Qianyun Zhou, Hailang Liu, Jin Chen, Xiaojie Song, Wei Han, Fuyi Zhang, Ping Yuan, Zhengxiong Yao, Lingling Xie, Mei Li, Li Jiang, Siqi Hong","doi":"10.1016/j.braindev.2024.104316","DOIUrl":"10.1016/j.braindev.2024.104316","url":null,"abstract":"<div><h3>Background</h3><div>Disease-modifying therapies can improve motor function in patients with spinal muscular atrophy (SMA), but efficacy varies between individuals. The aim was to evaluate the efficacy and safety of nusinersen treatment in children with SMA and to investigate prognostic factors.</div></div><div><h3>Methods</h3><div>Motor function, compound muscle action potential (CMAP), and other indicators were prospectively collected before and 14 months after nusinersen treatment.</div></div><div><h3>Results</h3><div>A total of 55 children were included in our study to assess safety. 41 patients (with at least 6 months of nusinersen treatment) were included in the final efficacy analyses, with a median age at first treatment of 4.2 years. After 14 months of treatment with nusinersen, motor function improved, with increases in CHOP INTEND (Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders), HINE-2 (Hammersmith Infant Neurological Exam-Part 2), HFMSE (Hammersmith Functional Motor Scale-Expanded) and RULM (Revised Upper Limb Module) of 5.5 (95 % CI –2.4–13.4), 0.8 (95 % CI –0.2–1.9), 5.0 (95 % CI 2.5–7.4) and 2.4 (95 % CI 0.7–4.1) points, respectively. The CMAP amplitudes of the bilateral tibial, median and ulnar nerves increased, with greatest improvements of 0.87 ± 1.41 mV, 1.08 ± 1.71 mV and 0.59 ± 1.01 mV, respectively. Spearman correlation analysis showed that age at first treatment, disease duration, joint contractures and scoliosis were associated with treatment efficacy (<em>r</em> = −0.4–0.7, <em>P</em> < 0.05). Subgroup analyses showed that the mean HFMSE and RULM scores improved in the Physical therapy group (P < 0.05).</div></div><div><h3>Conclusion</h3><div>Early treatment, mild bone and joint complications, and regular rehabilitation training were associated with better outcomes. The other motor-related functions, such as respiratory and bullar function, and prognostic factors should be studied in the future.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104316"},"PeriodicalIF":1.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959372","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Ictal EEG of benign convulsion with mild gastroenteritis with in infants and children 婴儿和儿童良性惊厥伴轻度胃肠炎的初始脑电图分析。

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.104312

Xiaoqing Luo , Xiaoli Yu , Jun Jiang

Objective

There are fewer reports on the ictal electroencephalogram(EEG) of convulsions in infants and children with mild gastroenteritis (BCWG). Our study retrospectively analyzed the ictal EEG characteristics of convulsive episodes of BCWG.

Methods

The seizure-phase EEGs of children diagnosed with BCWG from September 2016 to January 2022 were searched and analyzed, and a total of thirteen seizure-phase EEGs of eight cases were analyzed retrospectively.

Results

The age of onset of the disease in the eight children ranged from one year to two years and seven months. No epileptiform discharges were found during the interictal EEG. A total of thirteen epileptic seizures were monitored, of which nine were focal with secondary generalisation. Scalp EEG showed three onset of EEG seizures were in the right occipital region, two were in the right parietal and occipital regions, one was in the right parietal, occipital and posterior temporal region, one was in the right posterior temporal region, one was in the right occipital and posterior temporal region and one was in the right central and central midline region. In addition, four non-convulsive epileptic seizures, which manifested themselves as a decrease in movement and consciousness, with local δ slow-wave activity in bilateral occipital regions evolved to diffuse δ slow wave activity in epileptic seizures.

Conclusion

Focal secondary generalised tonic clonic seizures were the main type of seizures in BCWG, and the seizure onset may been mostly in posterior cephalic cortex. It was previously unreported that some children of BCWG may combine with non-convulsive epileptic seizures with the onset of slow wave activity in the occipital region bilaterally and evolving into diffuse δ slow wave activity, which was not easily detected by parents and clinicians.

目的：对婴儿和儿童轻度胃肠炎（BCWG）惊厥的发作性脑电图（EEG）报道较少。本研究回顾性分析了BCWG惊厥发作的初始脑电图特征。方法：检索分析2016年9月至2022年1月诊断为BCWG的患儿癫痫期脑电图，回顾性分析8例患儿共13例癫痫期脑电图。结果：8例患儿发病年龄从1岁到2岁零7个月不等。脑电图间期未见癫痫样放电。共监测13例癫痫发作，其中9例为局灶性继发全身性发作。头皮脑电图显示3次脑电图发作分别发生在右侧枕区，2次发生在右侧顶叶和枕叶区，1次发生在右侧顶叶、枕叶和颞后区，1次发生在右侧颞后区，1次发生在右侧枕叶和颞后区，1次发生在右侧中央和中线区。此外，4次非惊厥性癫痫发作表现为运动和意识减少，双侧枕区局部δ慢波活动演变为弥漫性δ慢波活动。结论：局灶性继发性全身性强直性阵挛性发作是BCWG的主要发作类型，癫痫发作可能主要发生在头后皮质。既往未见部分BCWG患儿合并非惊厥性癫痫发作，双侧枕区开始出现慢波活动，并发展为弥漫性δ慢波活动，家长和临床医生不易发现。

{"title":"Ictal EEG of benign convulsion with mild gastroenteritis with in infants and children","authors":"Xiaoqing Luo , Xiaoli Yu , Jun Jiang","doi":"10.1016/j.braindev.2024.104312","DOIUrl":"10.1016/j.braindev.2024.104312","url":null,"abstract":"<div><h3>Objective</h3><div>There are fewer reports on the ictal electroencephalogram(EEG) of convulsions in infants and children with mild gastroenteritis (BCWG). Our study retrospectively analyzed the ictal EEG characteristics of convulsive episodes of BCWG.</div></div><div><h3>Methods</h3><div>The seizure-phase EEGs of children diagnosed with BCWG from September 2016 to January 2022 were searched and analyzed, and a total of thirteen seizure-phase EEGs of eight cases were analyzed retrospectively.</div></div><div><h3>Results</h3><div>The age of onset of the disease in the eight children ranged from one year to two years and seven months. No epileptiform discharges were found during the interictal EEG. A total of thirteen epileptic seizures were monitored, of which nine were focal with secondary generalisation. Scalp EEG showed three onset of EEG seizures were in the right occipital region, two were in the right parietal and occipital regions, one was in the right parietal, occipital and posterior temporal region, one was in the right posterior temporal region, one was in the right occipital and posterior temporal region and one was in the right central and central midline region. In addition, four non-convulsive epileptic seizures, which manifested themselves as a decrease in movement and consciousness, with local δ slow-wave activity in bilateral occipital regions evolved to diffuse δ slow wave activity in epileptic seizures.</div></div><div><h3>Conclusion</h3><div>Focal secondary generalised tonic clonic seizures were the main type of seizures in BCWG, and the seizure onset may been mostly in posterior cephalic cortex. It was previously unreported that some children of BCWG may combine with non-convulsive epileptic seizures with the onset of slow wave activity in the occipital region bilaterally and evolving into diffuse δ slow wave activity, which was not easily detected by parents and clinicians.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104312"},"PeriodicalIF":1.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967479","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Paroxysmal delta waves of awake EEG in childhood adrenoleukodystrophy: Possible indicator of the hematopoietic stem cell therapy (HSCT) 儿童肾上腺白质营养不良症清醒脑电图阵发性三角波：造血干细胞疗法（HSCT）的可能指标。

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.104310

Kotoe Sakihara , Atsuko Gunji , Makiko Kaga , Wakana Furushima , Seiko Suzuki , Yoshimi Kaga , Masumi Inagaki

Background

Childhood cerebral type of Adrenoleukodystrophy (CC-ALD) is fatal without hematopoietic stem cell transplantation (HSCT). We consider whether EEGs showing focal paroxysmal delta waves can be a candidate of early detector of the apparent ALD and HSCT therapy.

Methods

Twenty-two male children with ALD (5–16 years; 10.4 ± 2.8) were evaluated. Fourteen children were diagnosed as CC-ALD and the rest 8 were yet asymptomatic both clinical and MRI findings. CC-ALD patients with frontal or occipital MRI main lesions were classified as Types F and O (4 and 10 patients). Asymptomatic patients were classified as Type A whose clinical types had not been known. Awake electroencephalogram was recorded during cognitive tasks and analyzed using fast Fourier transform (FFT). Eight children (1/4 F, 3/10 O and 4/8 A patients) were evaluated pre- and post-HSCT.

Results

FFT analysis revealed the high voltage slow wave characterized by an increased delta band wave power volume (DBPV) in all children. The DBPV of Type F and O patients showed anterior and posterior dominance in 4/4 and 9/10 patients. Dominant DBPV in Type A patients were anterior and posterior in 6/8 and 1/8, respectively. We classified them as Type F′ and O′. DBPV decreased in all (8/8) patients after HSCT therapy.

Conclusion

All patients showed paroxysmal delta wave. In symptomatic patients, abnormal delta wave appeared in their corresponding cortical lesions and decreased after therapy. In asymptomatic patients it may be the first sign of the apparent ALD onset and suggesting when to consider HSCT therapy.

背景：儿童脑型肾上腺白质营养不良症（CC-ALD）如果不进行造血干细胞移植（HSCT）将是致命的。我们认为，显示局灶性阵发性δ波的脑电图是否可作为早期检测明显ALD和造血干细胞移植治疗的候选指标：对 22 名患有 ALD 的男性儿童（5-16 岁；10.4 ± 2.8）进行了评估。14名儿童被诊断为CC-ALD，其余8名儿童临床和磁共振成像结果均无症状。有额叶或枕叶磁共振成像主要病变的 CC-ALD 患者被分为 F 型和 O 型（4 人和 10 人）。临床类型不明的无症状患者被归为A型。在进行认知任务时记录清醒的脑电图，并使用快速傅立叶变换（FFT）进行分析。对 8 名儿童（1/4 名 F 型、3/10 名 O 型和 4/8 名 A 型患者）进行了 HSCT 前后的评估：结果：快速傅立叶变换分析显示，所有儿童都出现了高压慢波，其特点是三角波带功率体积（DBPV）增加。F型和O型患者的DBPV在4/4和9/10的患者中显示出前后优势。A 型患者的 DBPV 优势分别为前方和后方，分别占 6/8 和 1/8。我们将他们分为 F'型和 O'型。所有患者（8/8）在接受造血干细胞移植治疗后，DBPV 均有所下降：结论：所有患者均出现阵发性三角波。在有症状的患者中，异常德尔塔波出现在相应的皮质病变中，并在治疗后下降。在无症状的患者中，这可能是明显的 ALD 发病的首发症状，并提示何时考虑造血干细胞移植治疗。

{"title":"Paroxysmal delta waves of awake EEG in childhood adrenoleukodystrophy: Possible indicator of the hematopoietic stem cell therapy (HSCT)","authors":"Kotoe Sakihara , Atsuko Gunji , Makiko Kaga , Wakana Furushima , Seiko Suzuki , Yoshimi Kaga , Masumi Inagaki","doi":"10.1016/j.braindev.2024.104310","DOIUrl":"10.1016/j.braindev.2024.104310","url":null,"abstract":"<div><h3>Background</h3><div>Childhood cerebral type of Adrenoleukodystrophy (CC-ALD) is fatal without hematopoietic stem cell transplantation (HSCT). We consider whether EEGs showing focal paroxysmal delta waves can be a candidate of early detector of the apparent ALD and HSCT therapy.</div></div><div><h3>Methods</h3><div>Twenty-two male children with ALD (5–16 years; 10.4 ± 2.8) were evaluated. Fourteen children were diagnosed as CC-ALD and the rest 8 were yet asymptomatic both clinical and MRI findings. CC-ALD patients with frontal or occipital MRI main lesions were classified as Types F and O (4 and 10 patients). Asymptomatic patients were classified as Type A whose clinical types had not been known. Awake electroencephalogram was recorded during cognitive tasks and analyzed using fast Fourier transform (FFT). Eight children (1/4 F, 3/10 O and 4/8 A patients) were evaluated pre- and post-HSCT.</div></div><div><h3>Results</h3><div>FFT analysis revealed the high voltage slow wave characterized by an increased delta band wave power volume (DBPV) in all children. The DBPV of Type F and O patients showed anterior and posterior dominance in 4/4 and 9/10 patients. Dominant DBPV in Type A patients were anterior and posterior in 6/8 and 1/8, respectively. We classified them as Type F′ and O′. DBPV decreased in all (8/8) patients after HSCT therapy.</div></div><div><h3>Conclusion</h3><div>All patients showed paroxysmal delta wave. In symptomatic patients, abnormal delta wave appeared in their corresponding cortical lesions and decreased after therapy. In asymptomatic patients it may be the first sign of the apparent ALD onset and suggesting when to consider HSCT therapy.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104310"},"PeriodicalIF":1.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830495","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Gut microbiota as a potential therapeutic target for children with cerebral palsy and epilepsy 肠道微生物群是脑瘫和癫痫患儿的潜在治疗目标。

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.09.002

Hui Wu , Congfu Huang , Shenghua Xiong

Gut microbiota (GM), the “second genome,” exerts influence on human health by impacting brain function through the gut-brain axis. This interaction involves various mechanisms, including immune regulation, metabolites, and neuronal pathways. The application of the next-generation sequencing technology provides a revolutionary tool for the study of GM, which contributes to a deeper comprehension of the GM-host relationship. Children with cerebral palsy (CP), a common neurological disorder in children, are more likely to develop epilepsy, which can exacerbate CP symptoms, particularly those related to cognitive impairment and gastrointestinal tract, such as constipation. The current study identified specific changes in the GM of children with CP accompanied by epilepsy. Furthermore, both diet and oral microbiota have the potential to influence the composition of the GM. Interventions with probiotics and dietary fiber based on GM can improve constipation and cognition, and this approach may be a potential therapeutic strategy.

肠道微生物群（GM）是 "第二基因组"，通过肠脑轴影响大脑功能，从而对人类健康产生影响。这种相互作用涉及多种机制，包括免疫调节、代谢物和神经元通路。新一代测序技术的应用为转基因研究提供了革命性的工具，有助于深入理解转基因与宿主的关系。脑瘫（CP）是一种常见的儿童神经系统疾病，患儿更容易患上癫痫，而癫痫会加重CP症状，尤其是与认知障碍和胃肠道（如便秘）有关的症状。目前的研究确定了伴有癫痫的CP患儿基因组的具体变化。此外，饮食和口腔微生物群都有可能影响基因组的组成。基于基因改造的益生菌和膳食纤维干预可以改善便秘和认知能力，这种方法可能是一种潜在的治疗策略。

引用次数: 0

Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review 与神经病变相关的新型IGHMBP2基因双等位基因无义突变（CMT2S）：对土耳其患者进行综合临床、遗传和生物信息学分析，并进行文献回顾。

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.104313

Cüneyd Yavas , Mustafa Dogan , Bilge Ozgor , Ekrem Akbulut , Recep Eroz

Background

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the IGHMBP2 gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.

Method

Detailed family histories and medical data were collected. Segregation analysis was performed using Sanger sequencing and whole exome sequencing. Additionally, a review of molecularly confirmed patients was conducted. Protein tertiary structures expressed in the IGHMBP2 gene were tested for topological and conformational changes using modeling programs and in-silico tools.

Results

We identified a novel homozygous nonsense mutation (c.2568_2569del p.Gly857Alafs*27) in a family with a member showing neuropathy. This report details the clinical and genetic findings of the affected individuals, including a Turkish patient with neuropathy, and compares them with literature cases.

Conclusion

Understanding the clinical impact of the (c.2568_2569del p.Gly857Alafs*27) mutation will enhance our knowledge of IGHMBP2 gene defects role in neuropathy. This study aims to highlight this severe recessive disease caused by pathogenic IGHMBP2 gene mutations and to examine the mutation spectrum and phenotype differences.

背景：脊髓性肌萎缩伴呼吸窘迫1型（SMARD1）和Charcot-Marie-Tooth型2S （CMT2S）通常在10岁前出现。遗传因素占高达50%的神经病变，往往表现出不同的症状。IGHMBP2基因的突变与CMT2S和SMARD1都相关，导致一种罕见的临床病症，其特征是轴突神经病变、脊髓性肌萎缩、呼吸窘迫和肌肉无力。方法：收集详细的家族史和医疗资料。分离分析采用Sanger测序和全外显子组测序。此外，对分子确诊患者进行了回顾。使用建模程序和计算机工具测试了IGHMBP2基因表达的蛋白质三级结构的拓扑和构象变化。结果：我们在一个有神经病变成员的家族中发现了一个新的纯合无义突变（c.2568_2569del p.Gly857Alafs*27）。本报告详细介绍了受影响个体的临床和遗传发现，包括一名土耳其神经病患者，并将其与文献病例进行了比较。结论：了解（c.2568_2569del p.Gly857Alafs*27）突变的临床影响将增强我们对IGHMBP2基因缺陷在神经病变中的作用的认识。本研究旨在突出这种由致病性IGHMBP2基因突变引起的严重隐性疾病，并研究突变谱和表型差异。

{"title":"Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review","authors":"Cüneyd Yavas , Mustafa Dogan , Bilge Ozgor , Ekrem Akbulut , Recep Eroz","doi":"10.1016/j.braindev.2024.104313","DOIUrl":"10.1016/j.braindev.2024.104313","url":null,"abstract":"<div><h3>Background</h3><div>Spinal muscular atrophy with respiratory distress type 1 (SMARD1) and Charcot-Marie-Tooth type 2S (CMT2S) typically present before age 10. Genetic factors account for up to 50 % of neuropathies, which often display varied symptoms. Mutations in the <em>IGHMBP2</em> gene are associated with both CMT2S and SMARD1, resulting in a rare clinical condition marked by axonal neuropathy, spinal muscular atrophy, respiratory distress, and muscle weakness.</div></div><div><h3>Method</h3><div>Detailed family histories and medical data were collected. Segregation analysis was performed using Sanger sequencing and whole exome sequencing. Additionally, a review of molecularly confirmed patients was conducted. Protein tertiary structures expressed in the <em>IGHMBP2</em> gene were tested for topological and conformational changes using modeling programs and in-silico tools.</div></div><div><h3>Results</h3><div>We identified a novel homozygous nonsense mutation (c.2568_2569del p.Gly857Alafs*27) in a family with a member showing neuropathy. This report details the clinical and genetic findings of the affected individuals, including a Turkish patient with neuropathy, and compares them with literature cases.</div></div><div><h3>Conclusion</h3><div>Understanding the clinical impact of the (c.2568_2569del p.Gly857Alafs*27) mutation will enhance our knowledge of <em>IGHMBP2</em> gene defects role in neuropathy. This study aims to highlight this severe recessive disease caused by pathogenic <em>IGHMBP2</em> gene mutations and to examine the mutation spectrum and phenotype differences.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104313"},"PeriodicalIF":1.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873613","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Prevention of chronic pneumonia in children with severe motor and intellectual disabilities by long-term tobramycin inhalation: Its benefits and limitations 长期吸入妥布霉素预防严重运动和智力残疾儿童慢性肺炎的益处和局限性

IF 1.4 4区医学 Q4 CLINICAL NEUROLOGY

Brain & Development

Pub Date : 2025-02-01 DOI: 10.1016/j.braindev.2024.104317

Yoshiaki Saito , Yuto Arai , Takanori Omae , Keisuke Watanabe , Yusuke Saiki , Toshiaki Tanaka , Chika Hosoda , Akiko Tamasaki-Kondo , Yoshihiro Maegaki , Kensaku Okada

Aim

To determine the effect of long-term tobramycin (TOB) inhalation therapy on recurrent pneumonia among ventilator-dependent children with profound neurological disabilities.

Methods

TOB inhalation was performed in eight series of trials in seven ventilator-dependent children who had intratracheal Pseudomonas aeruginosa and suffered from recurrent pneumonia. Their age at the initiation of therapy was 68 ± 50 months (mean ± standard deviation), whereas the duration of treatment was 30 ± 22 months. The participants were followed after the termination of therapy for a period of 38 ± 32 months.

Results

The annual rate of pneumonia was 5.6 episodes per year (n = 8) preceding the initiation of inhalation, which decreased to 3.7 (n = 8), 1.6 (n = 5), and 0.67 (n = 3) in the periods of 0–12, 12–24, and 24–36 months after initiation, respectively. The rates were 1.0 (n = 6), 0.6 (n = 5), and 1.4 (n = 5) in the periods of 0–12, 12–24, and 24–36 months after the termination of therapy.

Interpretation

Extended TOB inhalation therapy was effective in decreasing the morbidity of pneumonia in ventilator-dependent children with severe motor and intellectual disabilities.

目的：探讨长期妥布霉素（TOB）吸入治疗重度神经功能障碍依赖呼吸机儿童复发性肺炎的疗效。方法：对7例经气管内铜绿假单胞菌感染并复发性肺炎的呼吸机依赖患儿进行TOB吸入8组试验。治疗开始时的年龄为68±50个月（平均±标准差），治疗持续时间为30±22个月。治疗结束后随访38±32个月。结果：吸入前肺炎年发生率为5.6次/年（n = 8），吸入后0-12月、12-24月和24-36月分别降至3.7次（n = 8）、1.6次（n = 5）和0.67次（n = 3）。在治疗结束后0-12、12-24和24-36个月，发生率分别为1.0 （n = 6）、0.6 （n = 5）和1.4 （n = 5）。结论：延长TOB吸入治疗可有效降低严重运动和智力残疾的呼吸机依赖儿童肺炎的发病率。

{"title":"Prevention of chronic pneumonia in children with severe motor and intellectual disabilities by long-term tobramycin inhalation: Its benefits and limitations","authors":"Yoshiaki Saito , Yuto Arai , Takanori Omae , Keisuke Watanabe , Yusuke Saiki , Toshiaki Tanaka , Chika Hosoda , Akiko Tamasaki-Kondo , Yoshihiro Maegaki , Kensaku Okada","doi":"10.1016/j.braindev.2024.104317","DOIUrl":"10.1016/j.braindev.2024.104317","url":null,"abstract":"<div><h3>Aim</h3><div>To determine the effect of long-term tobramycin (TOB) inhalation therapy on recurrent pneumonia among ventilator-dependent children with profound neurological disabilities.</div></div><div><h3>Methods</h3><div>TOB inhalation was performed in eight series of trials in seven ventilator-dependent children who had intratracheal <em>Pseudomonas aeruginosa</em> and suffered from recurrent pneumonia. Their age at the initiation of therapy was 68 ± 50 months (mean ± standard deviation), whereas the duration of treatment was 30 ± 22 months. The participants were followed after the termination of therapy for a period of 38 ± 32 months.</div></div><div><h3>Results</h3><div>The annual rate of pneumonia was 5.6 episodes per year (<em>n</em> = 8) preceding the initiation of inhalation, which decreased to 3.7 (n = 8), 1.6 (<em>n</em> = 5), and 0.67 (<em>n</em> = 3) in the periods of 0–12, 12–24, and 24–36 months after initiation, respectively. The rates were 1.0 (<em>n</em> = 6), 0.6 (n = 5), and 1.4 (n = 5) in the periods of 0–12, 12–24, and 24–36 months after the termination of therapy.</div></div><div><h3>Interpretation</h3><div>Extended TOB inhalation therapy was effective in decreasing the morbidity of pneumonia in ventilator-dependent children with severe motor and intellectual disabilities.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104317"},"PeriodicalIF":1.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142959374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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