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Reply to the letter regarding the article “the impact of intraventricular hemorrhage on brainstem auditory function in preterm babies” 关于“脑室内出血对早产儿脑干听觉功能的影响”一文的复函
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2025-10-30 DOI: 10.1016/j.braindev.2025.104480
Ze Dong Jiang
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引用次数: 0
A patient presenting with chapeau de gendarme and three phase-ictal EEG pattern: Suggesting a focus in the interhemispheric fissure 1例患者脑电图表现为三相脑电图:提示在半球间裂处有病灶。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2025-10-14 DOI: 10.1016/j.braindev.2025.104467
Kensuke Kumazaki , Tohru Okanishi , Kento Ohta , Michiru Sasaki , Sotaro Kanai , Yoshihiro Maegaki

Introduction

We report a pediatric case of frontal lobe epilepsy with seizures characterized by the “chapeau de gendarme (CdG)” sign and a three phase-ictal scalp EEG (3Ph-EEG) pattern, suggesting a seizure focus in the interhemispheric fissure (IHF) cortex.

Case report

An 8-year-old boy with autism spectrum disorder (ASD) presented with daily episodes of impaired consciousness, staring, and bilateral tonic posturing of the upper limbs, accompanied by stiffening and drooping of both corners of the mouth. These episodes were initially misdiagnosed as behavioral disturbances in patients with ASD. Video-scalp EEG at age 11 revealed a 3Ph-EEG pattern: 1) brief β bursts in the left frontal region; 2) diffuse attenuation; and 3) rhythmic activity evolving from β to δ frequencies over the left fronto-centro-parietal regions. Seizure semiology and EEG findings were consistent with a seizure focus in the anterior IHF cortex, including the cingulate gyrus. Although valproate and levetiracetam were ineffective, lacosamide (LCM) effectively controlled the seizures, and its efficacy was sustained over a 3-year follow-up period.

Discussion

The combination of CdG and 3Ph-EEG patterns may serve as clinical and electrophysiological markers for seizures originating in the frontal IHF cortex. Therefore, LCM may be an effective treatment option for such cases. This case underscores the importance of detailed seizure semiology and EEG interpretation for accurate localization.
简介:我们报告一例额叶癫痫患儿,其癫痫发作的特征为“头盖骨(CdG)”征和三期脑电图(3Ph-EEG)模式,提示癫痫发作集中在半球间裂(IHF)皮层。病例报告:一名患有自闭症谱系障碍(ASD)的8岁男孩,每日表现为意识受损、凝视、双侧上肢强直姿势,并伴有嘴角僵硬和下垂。这些发作最初被误诊为ASD患者的行为障碍。11岁儿童头部视频脑电图显示3Ph-EEG模式:1)左侧额叶区出现短暂的β爆发;2)扩散衰减;3)左侧额-中-顶叶区节律性活动频率由β向δ演化。癫痫符号学和脑电图结果与癫痫集中在IHF前部皮层,包括扣带回一致。丙戊酸钠和左乙拉西坦均无效,而拉科沙胺(LCM)可有效控制癫痫发作,且其疗效持续3年以上。讨论:CdG和3Ph-EEG模式的结合可以作为源自额叶IHF皮层的癫痫发作的临床和电生理标记。因此,LCM可能是这类病例的有效治疗选择。这个病例强调了详细的癫痫符号学和脑电图解释对准确定位的重要性。
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引用次数: 0
Reply to: “Acute encephalopathy with biphasic seizures: Is cerebrospinal fluid glutamate truly specific?” 回复:“急性脑病伴双相癫痫:脑脊液谷氨酸真的是特异性的吗?”
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-12-01 Epub Date: 2025-10-16 DOI: 10.1016/j.braindev.2025.104471
Yasunari Sakai, Kenta Kajiwara
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引用次数: 0
EEG microstate-based static and dynamic brain functional network differences in autism spectrum disorder children and tDCS interventional modulation 自闭症谱系障碍儿童基于EEG微状态的静态和动态脑功能网络差异及tDCS干预调节
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 Epub Date: 2025-08-20 DOI: 10.1016/j.braindev.2025.104423
Jiannan Kang , Xiaoke Yang , Liang Zhang , Xiaoli Li , Shukai Zheng , Xiaoyan Tian

Background

Autism has garnered significant attention due to its abnormal brain network function.

Methods

EEG microstates are brief, stable patterns of brain activity during rest, lasting 80–120 milliseconds before rapidly transitioning to new configurations. A static brain functional network was constructed based on microstates, and the static brain functional network was further quantified using fuzzy entropy to build a dynamic brain functional network. The techniques thoroughly assessed how children with autism spectrum disorder (ASD) and typically developing (TD) brain networks differed from two angles: microstate static functional connectivity and dynamic temporal variability. These features were used in a support vector machine classification model to distinguish ASD children. Additionally, the impact of transcranial direct current stimulation (tDCS) on the brain functional network of ASD children was also assessed using this approach.

Results

The static functional connectivity of microstate A in ASD children was significantly lower than that of TD children, while the static functional connectivity of microstate D was significantly higher in the ASD group. The dynamic functional connectivity of microstates A, B, C, and D in the ASD group was significantly reduced across the whole brain. The support vector machine (SVM) classification accuracy based on these features was 96.33 %. Furthermore, after tDCS intervention, ASD children showed a trend of increased static functional connectivity in microstates A and C, as well as a tendency for increased dynamic functional connectivity in microstates A, B, and D.

Conclusion

A notable disparity was observed between children diagnosed with ASD and TD regarding their static and dynamic brain networks. The excellent classification results were achieved. Furthermore, it was discovered that the tDCS intervention altered the children with ASD's static and dynamic brain networks.
自闭症由于其异常的大脑网络功能而引起了人们的广泛关注。seeg微状态是休息时短暂、稳定的大脑活动模式,持续80-120毫秒,然后迅速过渡到新的状态。基于微观状态构建静态脑功能网络,并利用模糊熵对静态脑功能网络进行量化,构建动态脑功能网络。该技术从微观状态静态功能连通性和动态时间变异性两个角度全面评估了自闭症谱系障碍(ASD)儿童和典型发育(TD)儿童大脑网络的差异。这些特征被用于支持向量机分类模型来区分ASD儿童。此外,采用该方法还评估了经颅直流电刺激(tDCS)对ASD儿童脑功能网络的影响。结果ASD组儿童微状态A的静态功能连通性显著低于TD组,而ASD组儿童微状态D的静态功能连通性显著高于TD组。ASD组全脑微态A、B、C、D的动态功能连通性显著降低。基于这些特征的支持向量机(SVM)分类准确率为96.33%。此外,经tDCS干预后,ASD儿童在微观状态a和C中表现出静态功能连通性增加的趋势,在微观状态a、B和d中表现出动态功能连通性增加的趋势。结论ASD和TD患儿在静态和动态脑网络方面存在显著差异。取得了优异的分类效果。此外,还发现tDCS干预改变了ASD儿童的静态和动态脑网络。
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引用次数: 0
Fukuyama congenital muscular dystrophy: Clinical features and therapeutic advances 福山先天性肌营养不良症:临床特征和治疗进展
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 Epub Date: 2025-09-06 DOI: 10.1016/j.braindev.2025.104437
Keiko Ishigaki , Mariko Taniguchi-Ikeda
Fukuyama congenital muscular dystrophy (FCMD, a severe form of muscular dystrophy characterized by brain structural anomalies and ocular complications due to neuronal migration disorders, is notably limited mainly to Japan. Ninety percent of patients are unable to walk throughout their lives and die before the age of 20 due to respiratory failure and cardiomyopathy. At present, there is no cure. The founder variant, a 3-kb insertion in FKTN, is an SVA (SINE-VNTR-Alu) retrotransposon, and FCMD is a splicing disorder attributable the exon trapping function of this retrotransposon. A splicing modulation therapy targeting exon-trapping based on using antisense nucleic acids to block abnormal splicing is under development, and clinical trials have begun. Additionally, it was clarified that the gene product of FKTN is a glycosyltransferase that transfers ribitol-5-phosphate from cytidine diphosphate ribitol, a precursor for the synthesis of the O-mannosyl glycans of α-dystroglycan, a cell membrane component. This finding raises hopes for a prodrug therapy. Though patient numbers were small, previous clinical studies suggested that steroids are effective in FCMD. Thus, phase II clinical trials are underway with the aim of obtaining insurance approval. This review provides an overview of the clinical course and current status of treatments being developed for FCMD.
福山先天性肌营养不良症(Fukuyama congenital muscular dystrophy, FCMD)是一种严重的肌肉营养不良症,其特征是大脑结构异常和由神经元迁移障碍引起的眼部并发症,值得注意的是,主要局限于日本。90%的患者一生无法行走,在20岁之前因呼吸衰竭和心肌病而死亡。目前还没有治疗方法。FKTN中一个3 kb的插入,是一个SVA (sin - vntr - alu)反转录转座子,而FCMD是一种可归因于该反转录转座子的外显子捕获功能的剪切紊乱。基于反义核酸阻断异常剪接的靶向外显子捕获的剪接调节疗法正在开发中,并已开始临床试验。此外,FKTN的基因产物是一种糖基转移酶,可将胞苷二磷酸核糖糖醇转化为5-磷酸核糖糖醇,而胞苷二磷酸核糖糖醇是合成α-三磷酸糖聚糖(一种细胞膜成分)的o -甘露糖基聚糖的前体。这一发现为药物前治疗带来了希望。虽然患者人数很少,但先前的临床研究表明,类固醇对口蹄疫有效。因此,II期临床试验正在进行中,目的是获得保险批准。本综述概述了口蹄疫的临床过程和目前正在开发的治疗方法。
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引用次数: 0
Glutamate in cerebrospinal fluid as a diagnostic marker for acute encephalopathy in childhood 脑脊液谷氨酸盐作为儿童急性脑病的诊断标志物。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 Epub Date: 2025-09-24 DOI: 10.1016/j.braindev.2025.104448
Kenta Kajiwara , Daiki Setoyama , Kanako Higashi , Tomoko Nomiyama , Yuko Ichimiya , Daichi Kumamoto , Satoshi Akamine , Yuri Sonoda , Pin Fee Chong , Ryuichi Takemoto , Wakato Matsuoka , Soichi Mizuguchi , Noriyuki Kaku , Takahiro A. Kato , Tomohiko Akahoshi , Yuya Kunisaki , Yasunari Sakai , Shouichi Ohga

Backgrounds

Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most frequent form of acute encephalopathy in early childhood in Japan. Magnetic resonance imaging provides useful hallmarks of diagnosing AESD. However, metabolomic profiles for AESD remain elusive. This study investigates whether measurement of amino acids in the cerebrospinal fluid (CSF) is useful for the diagnosis of AESD before onset.

Methods

In the first study, CSF samples were collected from patients (11 AESD and 17 controls) admitted to Kyushu University Hospital during 2011–2016. Amino acids in the CSF were analyzed using mass spectrometry. Cytometric bead arrays were used to measure cytokine and chemokine levels in the CSF. The second study was performed by recruiting patients (8 AESD patients and 10 controls) admitted during 2011–2024. CSF samples were stored at −20 °C for 1 month to 12 years.

Results

In the first study, glutamate levels in the CSF from AESD patients were higher than in controls and correlated with methionine, threonine, and tyrosine levels. A correlation map of cytokines and amino acids revealed that glutamate formed a cluster with IL-1β, IL-10, and IL-12 p70. In the second study, no difference in glutamate levels was observed between AESD and control groups.

Conclusions

CSF glutamate potentially serves as a useful marker for diagnosing AESD. The long-term storage of CSF samples was likely to cause a decay of glutamate in the CSF. Prospective studies using fresh CSF samples are necessary to validate the results in this study.
背景:急性脑病伴双相发作和晚期弥散减少(AESD)是日本儿童早期急性脑病最常见的形式。磁共振成像提供了诊断AESD的有用标志。然而,AESD的代谢组学特征仍然难以捉摸。本研究探讨脑脊液(CSF)中氨基酸的测定是否有助于在发病前诊断AESD。方法:在第一项研究中,收集2011-2016年九州大学医院住院的患者(11例AESD和17例对照组)的脑脊液样本。用质谱法分析脑脊液中的氨基酸。采用细胞头阵列技术检测脑脊液中细胞因子和趋化因子的水平。第二项研究招募了2011-2024年间入院的患者(8名AESD患者和10名对照组)。脑脊液样品在-20°C保存1个月至12年。结果:在第一项研究中,AESD患者脑脊液中的谷氨酸水平高于对照组,并与蛋氨酸、苏氨酸和酪氨酸水平相关。细胞因子与氨基酸的相关图谱显示,谷氨酸与IL-1β、IL-10和IL-12 p70形成一个簇。在第二项研究中,在AESD和对照组之间没有观察到谷氨酸水平的差异。结论:脑脊液谷氨酸盐可作为诊断AESD的有效指标。脑脊液样品的长期保存可能导致脑脊液中谷氨酸的衰减。使用新鲜脑脊液样本进行前瞻性研究是验证本研究结果的必要条件。
{"title":"Glutamate in cerebrospinal fluid as a diagnostic marker for acute encephalopathy in childhood","authors":"Kenta Kajiwara ,&nbsp;Daiki Setoyama ,&nbsp;Kanako Higashi ,&nbsp;Tomoko Nomiyama ,&nbsp;Yuko Ichimiya ,&nbsp;Daichi Kumamoto ,&nbsp;Satoshi Akamine ,&nbsp;Yuri Sonoda ,&nbsp;Pin Fee Chong ,&nbsp;Ryuichi Takemoto ,&nbsp;Wakato Matsuoka ,&nbsp;Soichi Mizuguchi ,&nbsp;Noriyuki Kaku ,&nbsp;Takahiro A. Kato ,&nbsp;Tomohiko Akahoshi ,&nbsp;Yuya Kunisaki ,&nbsp;Yasunari Sakai ,&nbsp;Shouichi Ohga","doi":"10.1016/j.braindev.2025.104448","DOIUrl":"10.1016/j.braindev.2025.104448","url":null,"abstract":"<div><h3>Backgrounds</h3><div>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most frequent form of acute encephalopathy in early childhood in Japan. Magnetic resonance imaging provides useful hallmarks of diagnosing AESD. However, metabolomic profiles for AESD remain elusive. This study investigates whether measurement of amino acids in the cerebrospinal fluid (CSF) is useful for the diagnosis of AESD before onset.</div></div><div><h3>Methods</h3><div>In the first study, CSF samples were collected from patients (11 AESD and 17 controls) admitted to Kyushu University Hospital during 2011–2016. Amino acids in the CSF were analyzed using mass spectrometry. Cytometric bead arrays were used to measure cytokine and chemokine levels in the CSF. The second study was performed by recruiting patients (8 AESD patients and 10 controls) admitted during 2011–2024. CSF samples were stored at −20 °C for 1 month to 12 years.</div></div><div><h3>Results</h3><div>In the first study, glutamate levels in the CSF from AESD patients were higher than in controls and correlated with methionine, threonine, and tyrosine levels. A correlation map of cytokines and amino acids revealed that glutamate formed a cluster with IL-1β, IL-10, and IL-12 p70. In the second study, no difference in glutamate levels was observed between AESD and control groups.</div></div><div><h3>Conclusions</h3><div>CSF glutamate potentially serves as a useful marker for diagnosing AESD. The long-term storage of CSF samples was likely to cause a decay of glutamate in the CSF. Prospective studies using fresh CSF samples are necessary to validate the results in this study.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104448"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145152058","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 “Integrating optical and behavioral measures in fNIRS visual search” 答复“fNIRS视觉搜索中光学和行为措施的整合”。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 Epub Date: 2025-09-24 DOI: 10.1016/j.braindev.2025.104450
Koji Yano , Makoto Wada , Akira Yasumura
{"title":"Reply to “Integrating optical and behavioral measures in fNIRS visual search”","authors":"Koji Yano ,&nbsp;Makoto Wada ,&nbsp;Akira Yasumura","doi":"10.1016/j.braindev.2025.104450","DOIUrl":"10.1016/j.braindev.2025.104450","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104450"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145152072","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
Parenting stress in autism spectrum disorder: A comparative analysis with other developmental disabilities 自闭症谱系障碍的父母压力:与其他发育障碍的比较分析
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 Epub Date: 2025-09-08 DOI: 10.1016/j.braindev.2025.104436
Jung Sook Yeom , Young-Soo Kim

Objective

To compare parenting stress between parents of children with autism spectrum disorder (ASD) and other developmental disabilities (DDs) and to examine ASD's influence on parenting stress through mediation analysis.

Methods

We retrospectively analyzed 48 children with ASD (ASD group) and 77 with non-ASD DDs (non-ASD group), along with one of their parents, at the Gyeongsang National University Hospital between May 2021 and August 2024. All underwent developmental assessments and completed the Korean version of the Parenting Stress Index-4 and the Child Interactive Behavior Test (CIBT).

Results

The ASD group's median age was 37.5 months, with 37 boys (77.1 %). No significant difference was found in child age, sex, or parental demographics between the groups. Total parenting stress was significantly higher in the ASD group (p = 0.01), primarily due to higher child domain scores (p<0.01) than in the non-ASD group. Among the child domain subscales, Distractibility/Hyperactivity, Adaptability, Reinforces Parent, and Acceptability were significantly higher in the ASD group, while only the Attachment subscale differed in the parent domain. For high parenting stress (>85th percentile), Initiative Interaction—a CIBT subscale—was the only independent predictor, rather than ASD diagnosis. Mediation analysis showed no direct effect of ASD on parenting stress (β = 4.28, p = 0.42) but an indirect effect via reduced initial interaction (β = 3.68, p<0.05).

Conclusions

Parenting stress was higher in the ASD group, mainly due to child-related factors. ASD influenced parenting stress indirectly through reduced initiative interaction. These findings provide further insight into parenting stress in families of children with ASD.
目的比较自闭症谱系障碍(ASD)和其他发育障碍(dd)患儿父母的育儿压力,并通过中介分析探讨ASD对育儿压力的影响。方法回顾性分析2021年5月至2024年8月在庆尚国立大学医院收治的48例ASD患儿(ASD组)和77例非ASD患儿(非ASD组)及其父母。所有人都接受了发展评估,并完成了韩国版的养育压力指数-4和儿童互动行为测试(CIBT)。结果ASD组中位年龄为37.5个月,男孩37例(77.1%)。两组之间在儿童年龄、性别或父母人口统计数据方面没有发现显著差异。ASD组的总育儿压力显著高于非ASD组(p = 0.01),主要是由于儿童领域得分高于非ASD组(p = 0.01)。在儿童领域的子量表中,注意力分散/多动、适应性、强化父母和可接受性显著高于ASD组,而只有依恋子量表在父母领域存在差异。对于高养育压力(第85百分位),主动互动(CIBT子量表)是唯一的独立预测因子,而不是ASD诊断。中介分析显示,ASD对养育压力无直接影响(β = 4.28, p = 0.42),但通过减少初始互动产生间接影响(β = 3.68, p<0.05)。结论ASD组家长压力较高,主要与儿童相关因素有关。ASD通过减少主动互动间接影响养育压力。这些发现为自闭症儿童家庭的养育压力提供了进一步的见解。
{"title":"Parenting stress in autism spectrum disorder: A comparative analysis with other developmental disabilities","authors":"Jung Sook Yeom ,&nbsp;Young-Soo Kim","doi":"10.1016/j.braindev.2025.104436","DOIUrl":"10.1016/j.braindev.2025.104436","url":null,"abstract":"<div><h3>Objective</h3><div>To compare parenting stress between parents of children with autism spectrum disorder (ASD) and other developmental disabilities (DDs) and to examine ASD's influence on parenting stress through mediation analysis.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed 48 children with ASD (ASD group) and 77 with non-ASD DDs (non-ASD group), along with one of their parents, at the Gyeongsang National University Hospital between May 2021 and August 2024. All underwent developmental assessments and completed the Korean version of the Parenting Stress Index-4 and the Child Interactive Behavior Test (CIBT).</div></div><div><h3>Results</h3><div>The ASD group's median age was 37.5 months, with 37 boys (77.1 %). No significant difference was found in child age, sex, or parental demographics between the groups. Total parenting stress was significantly higher in the ASD group (<em>p</em> = 0.01), primarily due to higher child domain scores (<em>p</em>&lt;0.01) than in the non-ASD group. Among the child domain subscales, Distractibility/Hyperactivity, Adaptability, Reinforces Parent, and Acceptability were significantly higher in the ASD group, while only the Attachment subscale differed in the parent domain. For high parenting stress (&gt;85th percentile), Initiative Interaction—a CIBT subscale—was the only independent predictor, rather than ASD diagnosis. Mediation analysis showed no direct effect of ASD on parenting stress (β = 4.28, <em>p</em> = 0.42) but an indirect effect via reduced initial interaction (β = 3.68, <em>p</em>&lt;0.05).</div></div><div><h3>Conclusions</h3><div>Parenting stress was higher in the ASD group, mainly due to child-related factors. ASD influenced parenting stress indirectly through reduced initiative interaction. These findings provide further insight into parenting stress in families of children with ASD.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104436"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145019109","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
Cancers in an aging population with severe motor and intellectual disabilities: a single-center retrospective cohort study. 患有严重运动和智力残疾的老年人群中的癌症:一项单中心回顾性队列研究。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 Epub Date: 2025-08-09 DOI: 10.1016/j.braindev.2025.104416
Hiroshi Terashima, Yoshiaki Saito, Nagahisa Takahashi, Masashi Mizuguchi, Eiji Kitazumi

Objective: To investigate the characteristics of cancers in aging individuals with severe motor and intellectual disabilities (SMID).

Methods: This is a retrospective cohort study conducted at a single center. Clinical records of 186 individuals residing in the SMID ward between January 2002 and December 2022 were reviewed. For colorectal cancer, which showed high incidence, statistical comparisons were performed with an age- and sex-matched non-cancer control group.

Results: Among 48 recorded deaths, cancer was the most common cause (13 cases, 27 %; median age at death, 57 years), followed by pneumonia (12 cases, 25 %; median age at death, 51 years). Among the 20 patients diagnosed with cancers (affecting 22 organs), colorectal cancer accounted for eight cases (36 %) and breast cancer for six cases (27 %). The standardized incidence ratios for both cancers exceeded 1. Colorectal cancer incidence was significantly associated with frequent gross hematochezia and the number of preceding years with positive fecal occult blood test results, as well as marginally with the frequency of enemas. Four patients with colorectal cancer underwent surgery, and three were alive at the end of the study period.

Conclusion: As individuals with SMID age, cancer has become a leading cause of death. The incidence rates of colorectal and breast cancers exceed those in the general population. It is justifiable to apply the same screening protocols to this population as in the general population, but strategies to enhance diagnostic specificity and reduce the invasiveness of confirmatory tests are desirable. Surgical treatment for colorectal cancer may improve the survival outcomes.

目的:探讨老年重度运动智力障碍(SMID)患者的癌症特点。方法:这是一项单中心回顾性队列研究。回顾了2002年1月至2022年12月期间居住在SMID病房的186名患者的临床记录。对于高发病率的结直肠癌,与年龄和性别匹配的非癌症对照组进行了统计比较。结果:在记录的48例死亡中,癌症是最常见的原因(13例,27%;死亡时中位年龄为57岁,其次是肺炎(12例,25%;死亡年龄中位数为51岁)。在被诊断为癌症(影响22个器官)的20例患者中,结直肠癌占8例(36%),乳腺癌占6例(27%)。两种癌症的标准化发病率比均超过1。结直肠癌的发病率与频繁的总便血和粪便潜血检查阳性的年数显著相关,与灌肠次数也有轻微关系。四名结直肠癌患者接受了手术,其中三人在研究结束时仍然活着。结论:随着SMID患者年龄的增长,癌症已成为导致其死亡的主要原因。结直肠癌和乳腺癌的发病率高于一般人群。对这类人群采用与普通人群相同的筛查方案是合理的,但提高诊断特异性和减少确诊性检测的侵入性的策略是可取的。结直肠癌的手术治疗可能会提高生存率。
{"title":"Cancers in an aging population with severe motor and intellectual disabilities: a single-center retrospective cohort study.","authors":"Hiroshi Terashima, Yoshiaki Saito, Nagahisa Takahashi, Masashi Mizuguchi, Eiji Kitazumi","doi":"10.1016/j.braindev.2025.104416","DOIUrl":"10.1016/j.braindev.2025.104416","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the characteristics of cancers in aging individuals with severe motor and intellectual disabilities (SMID).</p><p><strong>Methods: </strong>This is a retrospective cohort study conducted at a single center. Clinical records of 186 individuals residing in the SMID ward between January 2002 and December 2022 were reviewed. For colorectal cancer, which showed high incidence, statistical comparisons were performed with an age- and sex-matched non-cancer control group.</p><p><strong>Results: </strong>Among 48 recorded deaths, cancer was the most common cause (13 cases, 27 %; median age at death, 57 years), followed by pneumonia (12 cases, 25 %; median age at death, 51 years). Among the 20 patients diagnosed with cancers (affecting 22 organs), colorectal cancer accounted for eight cases (36 %) and breast cancer for six cases (27 %). The standardized incidence ratios for both cancers exceeded 1. Colorectal cancer incidence was significantly associated with frequent gross hematochezia and the number of preceding years with positive fecal occult blood test results, as well as marginally with the frequency of enemas. Four patients with colorectal cancer underwent surgery, and three were alive at the end of the study period.</p><p><strong>Conclusion: </strong>As individuals with SMID age, cancer has become a leading cause of death. The incidence rates of colorectal and breast cancers exceed those in the general population. It is justifiable to apply the same screening protocols to this population as in the general population, but strategies to enhance diagnostic specificity and reduce the invasiveness of confirmatory tests are desirable. Surgical treatment for colorectal cancer may improve the survival outcomes.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"104416"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818402","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
Gene therapy advancements in Duchenne muscular dystrophy: Overlooked challenges 杜氏肌营养不良症的基因治疗进展:被忽视的挑战。
IF 1.3 4区 医学 Q4 CLINICAL NEUROLOGY Pub Date : 2025-10-01 Epub Date: 2025-09-29 DOI: 10.1016/j.braindev.2025.104460
Daniel Matovu
{"title":"Gene therapy advancements in Duchenne muscular dystrophy: Overlooked challenges","authors":"Daniel Matovu","doi":"10.1016/j.braindev.2025.104460","DOIUrl":"10.1016/j.braindev.2025.104460","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104460"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202167","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
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Brain & Development
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