Febrile seizures are a common cause of emergency pediatric transport. Although the coronavirus disease (COVID-19) pandemic disrupted healthcare systems, including emergency services, its impact on transport times for pediatric febrile seizures remains unclear. This study aimed to evaluate how the pandemic affected transport times.
Methods
We retrospectively reviewed emergency department visits at our hospital between 2018 and 2022. Patients with febrile seizures in 2019 (before the COVID-19 pandemic) and in 2022 (during the pandemic) were included. Transport times and clinical data were compared between those years. Multivariate regression analysis was used to identify factors associated with longer transport times.
Results
There were 329 and 282 patients in 2019 and 2022, respectively. The median transport time increased significantly from 33 min in 2019 to 39 min in 2022 (p < 0.001). The proportion of cases exceeding 46 min increased from 10 % to 28 %, whereas those exceeding 60 min increased from 1.2 % to 7.4 %. A longer transport time was associated with seizure duration, onset year (2022), and transport from distant areas. Onset in 2022 was identified as an independent factor. Stratified analysis showed significantly longer transport times in adjacent and remote areas during the pandemic no significant difference in transport times near the hospital.
Conclusion
Transport times for pediatric febrile seizures increased significantly during the COVID-19 pandemic, with more delays of over 60 min, especially in remote areas. These findings highlight the need to strengthen regional emergency transportation systems to reduce time to care, particularly for patients living farther from hospitals.
{"title":"Impact of the coronavirus disease pandemic on emergency transport times for pediatric febrile seizures: A retrospective study","authors":"Taisuke Matsumoto , Masahiro Nishiyama , Yusuke Ishida , Satoshi Matsui , Azusa Maruyama","doi":"10.1016/j.braindev.2025.104456","DOIUrl":"10.1016/j.braindev.2025.104456","url":null,"abstract":"<div><h3>Background</h3><div>Febrile seizures are a common cause of emergency pediatric transport. Although the coronavirus disease (COVID-19) pandemic disrupted healthcare systems, including emergency services, its impact on transport times for pediatric febrile seizures remains unclear. This study aimed to evaluate how the pandemic affected transport times.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed emergency department visits at our hospital between 2018 and 2022. Patients with febrile seizures in 2019 (before the COVID-19 pandemic) and in 2022 (during the pandemic) were included. Transport times and clinical data were compared between those years. Multivariate regression analysis was used to identify factors associated with longer transport times.</div></div><div><h3>Results</h3><div>There were 329 and 282 patients in 2019 and 2022, respectively. The median transport time increased significantly from 33 min in 2019 to 39 min in 2022 (<em>p</em> < 0.001). The proportion of cases exceeding 46 min increased from 10 % to 28 %, whereas those exceeding 60 min increased from 1.2 % to 7.4 %. A longer transport time was associated with seizure duration, onset year (2022), and transport from distant areas. Onset in 2022 was identified as an independent factor. Stratified analysis showed significantly longer transport times in adjacent and remote areas during the pandemic no significant difference in transport times near the hospital.</div></div><div><h3>Conclusion</h3><div>Transport times for pediatric febrile seizures increased significantly during the COVID-19 pandemic, with more delays of over 60 min, especially in remote areas. These findings highlight the need to strengthen regional emergency transportation systems to reduce time to care, particularly for patients living farther from hospitals.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104456"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145202186","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}
Background: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) usually has a favorable gross motor prognosis, and involuntary movements that occur after AESD are transient, typically resolving spontaneously during the recovery phase.
Case presentation: Three male patients without any underlying disease or history of perinatal insults developed AESD between 10 and 12 months of age. Case 1 remained choreoathetosis, dystonia, and ataxia, with the choreoathetosis resolving six years after onset. By age 10, he could sit without support and crawl but could not walk independently due to ataxia. Case 2 exhibited persistent athetosis in all four limbs and the trunk. He could not sit without support and required full assistance for movement at age 8. Case 3 displayed athetosis in all four limbs at age 4. He could sit without support and crawl but was unable to walk independently. All patients regained their ability to consume food orally but had severe intellectual disability. Case 1 and 2 developed mild scoliosis. Abnormal findings were observed in the basal ganglia or thalami on magnetic resonance imaging (MRI) or single-photon emission computed tomography (SPECT) scans during acute or subacute phase for all patients.
Discussion: We reported three patients with gross motor dysfunction caused by persistent involuntary movements, deviating from the usual clinical progression of AESD. In cases where MRI or SPECT revealed basal ganglia abnormalities, it is crucial to consider the possibility of late involuntary movements, and to plan suitable rehabilitation and environmental modifications to alleviate motor dysfunction and scoliosis.
{"title":"Three cases of acute encephalopathy with biphasic seizures and late reduced diffusion predominantly manifesting generalized involuntary movements in the chronic phase.","authors":"Azusa Matsubara, Shodo Hirano, Naomi Okuyama, Satori Hirai, Yukihiro Kitai, Hiroshi Arai","doi":"10.1016/j.braindev.2025.104413","DOIUrl":"10.1016/j.braindev.2025.104413","url":null,"abstract":"<p><strong>Background: </strong>Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) usually has a favorable gross motor prognosis, and involuntary movements that occur after AESD are transient, typically resolving spontaneously during the recovery phase.</p><p><strong>Case presentation: </strong>Three male patients without any underlying disease or history of perinatal insults developed AESD between 10 and 12 months of age. Case 1 remained choreoathetosis, dystonia, and ataxia, with the choreoathetosis resolving six years after onset. By age 10, he could sit without support and crawl but could not walk independently due to ataxia. Case 2 exhibited persistent athetosis in all four limbs and the trunk. He could not sit without support and required full assistance for movement at age 8. Case 3 displayed athetosis in all four limbs at age 4. He could sit without support and crawl but was unable to walk independently. All patients regained their ability to consume food orally but had severe intellectual disability. Case 1 and 2 developed mild scoliosis. Abnormal findings were observed in the basal ganglia or thalami on magnetic resonance imaging (MRI) or single-photon emission computed tomography (SPECT) scans during acute or subacute phase for all patients.</p><p><strong>Discussion: </strong>We reported three patients with gross motor dysfunction caused by persistent involuntary movements, deviating from the usual clinical progression of AESD. In cases where MRI or SPECT revealed basal ganglia abnormalities, it is crucial to consider the possibility of late involuntary movements, and to plan suitable rehabilitation and environmental modifications to alleviate motor dysfunction and scoliosis.</p>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"104413"},"PeriodicalIF":1.3,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144818404","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}
Epileptic spasms are the predominant seizure type in infantile epileptic spasms syndrome (IESS). The pathophysiology of IESS, including blood–brain barrier (BBB) function involvement, remains unclear. To address this issue, we evaluated the serum matrix metallopeptidase-9 (MMP-9) and tissue inhibitor of metalloproteinase-1 (TIMP-1) levels in patients with IESS before and after initiating vigabatrin therapy.
Methods
IESS was defined as epileptic spasms occurring within 2 years after birth. We prospectively assessed serum MMP-9 and TIMP-1 levels before and after initiating vigabatrin therapy in patients with IESS who attended Saitama Children's Medical Center between February 2019 and December 2024 (n = 12; 5 boys) and compared them with those in age-matched controls (n = 14; 8 boys).
Results
The median ages at epileptic spasm onset and vigabatrin therapy initiation were 3.5 (1−11) and 8 (3−13) months, respectively. Serum MMP-9 levels were higher in patients with IESS than in the controls (p < 0.001). Serum MMP-9 and MMP-9/TIMP-1 ratios decreased significantly after vigabatrin therapy (MMP-9: 308 [160–664] ng/mL vs. 220 [112–367] ng/mL, p < 0.01; MMP-9/TIMP-1 ratio: 1.48 [0.61–8.14] vs. 1.11 [0.31–1.92], p < 0.05). MMP-9 levels decreased in 9 of 11 patients whose epileptic spasms had disappeared by the time of the last measurement.
Conclusion
Decreased MMP-9 levels after the initiation of vigabatrin therapy suggested an improvement in BBB dysfunction. Our findings shed light on the role of the BBB in IESS and the role of vigabatrin in the recovery of this function.
目的癫痫性痉挛是婴儿癫痫性痉挛综合征（IESS）的主要发作类型。IESS的病理生理机制，包括血脑屏障（BBB）功能受累，仍不清楚。为了解决这个问题，我们评估了IESS患者在vigabatrin治疗前后的血清基质金属肽酶-9 （MMP-9）和组织金属蛋白酶-1抑制剂（TIMP-1）水平。方法siess定义为出生后2年内发生的癫痫性痉挛。我们前瞻性地评估了2019年2月至2024年12月期间在埼玉儿童医疗中心就诊的IESS患者（n = 12, 5名男孩）在开始vigabatrin治疗前后的血清MMP-9和TIMP-1水平，并将其与年龄匹配的对照组（n = 14, 8名男孩）进行了比较。结果癫痫性痉挛发作的中位年龄为3.5（1−11）个月，vigabatrin治疗开始的中位年龄为8（3−13）个月。IESS患者血清MMP-9水平高于对照组（p < 0.001）。vigabatrin治疗后血清MMP-9和MMP-9/TIMP-1比值显著降低（MMP-9: 308 [160-664] ng/mL vs. 220 [112-367] ng/mL, p < 0.01； MMP-9/TIMP-1比值：1.48 [0.61-8.14]vs. 1.11 [0.31-1.92], p < 0.05）。在最后一次测量时癫痫痉挛消失的11例患者中，有9例MMP-9水平下降。结论维加巴特林治疗后MMP-9水平降低提示血脑屏障功能障碍改善。我们的研究结果揭示了血脑屏障在IESS中的作用，以及vigabatrin在这一功能恢复中的作用。
{"title":"Serum matrix metallopeptidase-9 levels in patients with infantile epileptic spasms syndrome before and after the initiation of vigabatrin therapy","authors":"Ryuki Matsuura , Shin-ichiro Hamano , Atsuro Daida , Azusa Oba , Haruhito Horita , Yuko Hirata , Reiko Koichihara , Kenjiro Kikuchi , Akira Oka","doi":"10.1016/j.braindev.2025.104447","DOIUrl":"10.1016/j.braindev.2025.104447","url":null,"abstract":"<div><h3>Purpose</h3><div>Epileptic spasms are the predominant seizure type in infantile epileptic spasms syndrome (IESS). The pathophysiology of IESS, including blood–brain barrier (BBB) function involvement, remains unclear. To address this issue, we evaluated the serum matrix metallopeptidase-9 (MMP-9) and tissue inhibitor of metalloproteinase-1 (TIMP-1) levels in patients with IESS before and after initiating vigabatrin therapy.</div></div><div><h3>Methods</h3><div>IESS was defined as epileptic spasms occurring within 2 years after birth. We prospectively assessed serum MMP-9 and TIMP-1 levels before and after initiating vigabatrin therapy in patients with IESS who attended Saitama Children's Medical Center between February 2019 and December 2024 (<em>n</em> = 12; 5 boys) and compared them with those in age-matched controls (<em>n</em> = 14; 8 boys).</div></div><div><h3>Results</h3><div>The median ages at epileptic spasm onset and vigabatrin therapy initiation were 3.5 (1−11) and 8 (3−13) months, respectively. Serum MMP-9 levels were higher in patients with IESS than in the controls (<em>p</em> < 0.001). Serum MMP-9 and MMP-9/TIMP-1 ratios decreased significantly after vigabatrin therapy (MMP-9: 308 [160–664] ng/mL vs. 220 [112–367] ng/mL, <em>p</em> < 0.01; MMP-9/TIMP-1 ratio: 1.48 [0.61–8.14] vs. 1.11 [0.31–1.92], <em>p</em> < 0.05). MMP-9 levels decreased in 9 of 11 patients whose epileptic spasms had disappeared by the time of the last measurement.</div></div><div><h3>Conclusion</h3><div>Decreased MMP-9 levels after the initiation of vigabatrin therapy suggested an improvement in BBB dysfunction. Our findings shed light on the role of the BBB in IESS and the role of vigabatrin in the recovery of this function.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104447"},"PeriodicalIF":1.3,"publicationDate":"2025-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157449","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}
Pub Date : 2025-09-25DOI: 10.1016/j.braindev.2025.104454
Prateek Kumar Panda , Indar Kumar Sharawat , Diksha Gupta , Achanya Palayullakandi , Suthiraj Sopanam , Sarama Saha
Background
Both risperidone and aripiprazole are effective in reducing irritability severity in children with autism spectrum disorder (ASD). However, head-to-head comparison trials between these two drugs are scarce in the literature and have shown conflicting results.
Methods
This trial compared the efficacy and safety of risperidone and aripiprazole in children and adolescents with ASD, aged 6–18 years. After a two-week placebo trial, placebo responders were excluded. The remaining participants were randomized into two groups. The outcomes were the change in the irritability subscale of the Aberrant Behavior Checklist (ABC-I), Childhood Autism Rating Scale (CARS2), Conners' Parent Rating Scale-Revised (CPRS-R), Children's Sleep Habits Questionnaire (CSHQ), Sensory Profile-2 (SP-2), cognition and the nature and frequency of treatment-emergent adverse events.
Results
Seventy-two patients (36 in each group) were recruited. Changes in the ABC-I score (−13.6 ± 4.3 vs. -12.2 ± 3.9, p = 0.15), ABC total score (−27.5 ± 15.9 vs. -26.8 ± 15.7, p = 0.85), CARS score (−2.9 ± 0.7 vs. -2.7 ± 0.8, p = 0.26), CPRS-R Global Index T-score (−10.63 ± 8.54 vs. -9.61 ± 8.92, p = 0.62), number of patients with significant sensory processing abnormalities (18/36 vs. 18/36, p = 1.0), CSHQ score (−4.6 ± 3.8 vs. -3.9 ± 3.1, p = 0.39), and full-scale IQ (1.9 ± 1.6 vs. 1.8 ± 1.5, p = 0.75) were comparable between groups. In multivariate regression analysis, CPRS-R Global Index T-score (p = 0.02) and full-scale intelligence quotient (p = 0.03) were independent predictors of changes in the ABC-I score. The frequency of adverse events was similar in both groups. Serum prolactin levels decreased in the aripiprazole group at 12 weeks but increased in the risperidone group.
Conclusions
Risperidone and aripiprazole demonstrate comparable efficacy and safety in managing irritability in children and adolescents with ASD.
Trial Registry no: Clinical Trial Registry of India (CTRI/2021/12/038721).
{"title":"Efficacy and safety of risperidone and aripiprazole in reducing severity of irritability in children with autism spectrum disorder: A randomized controlled trial","authors":"Prateek Kumar Panda , Indar Kumar Sharawat , Diksha Gupta , Achanya Palayullakandi , Suthiraj Sopanam , Sarama Saha","doi":"10.1016/j.braindev.2025.104454","DOIUrl":"10.1016/j.braindev.2025.104454","url":null,"abstract":"<div><h3>Background</h3><div>Both risperidone and aripiprazole are effective in reducing irritability severity in children with autism spectrum disorder (ASD). However, head-to-head comparison trials between these two drugs are scarce in the literature and have shown conflicting results.</div></div><div><h3>Methods</h3><div>This trial compared the efficacy and safety of risperidone and aripiprazole in children and adolescents with ASD, aged 6–18 years. After a two-week placebo trial, placebo responders were excluded. The remaining participants were randomized into two groups. The outcomes were the change in the irritability subscale of the Aberrant Behavior Checklist (ABC-I), Childhood Autism Rating Scale (CARS2), Conners' Parent Rating Scale-Revised (CPRS-R), Children's Sleep Habits Questionnaire (CSHQ), Sensory Profile-2 (SP-2), cognition and the nature and frequency of treatment-emergent adverse events.</div></div><div><h3>Results</h3><div>Seventy-two patients (36 in each group) were recruited. Changes in the ABC-I score (−13.6 ± 4.3 vs. -12.2 ± 3.9, <em>p</em> = 0.15), ABC total score (−27.5 ± 15.9 vs. -26.8 ± 15.7, <em>p</em> = 0.85), CARS score (−2.9 ± 0.7 vs. -2.7 ± 0.8, <em>p</em> = 0.26), CPRS-R Global Index T-score (−10.63 ± 8.54 vs. -9.61 ± 8.92, <em>p</em> = 0.62), number of patients with significant sensory processing abnormalities (18/36 vs. 18/36, <em>p</em> = 1.0), CSHQ score (−4.6 ± 3.8 vs. -3.9 ± 3.1, <em>p</em> = 0.39), and full-scale IQ (1.9 ± 1.6 vs. 1.8 ± 1.5, <em>p</em> = 0.75) were comparable between groups. In multivariate regression analysis, CPRS-R Global Index T-score (<em>p</em> = 0.02) and full-scale intelligence quotient (<em>p</em> = 0.03) were independent predictors of changes in the ABC-I score. The frequency of adverse events was similar in both groups. Serum prolactin levels decreased in the aripiprazole group at 12 weeks but increased in the risperidone group.</div></div><div><h3>Conclusions</h3><div>Risperidone and aripiprazole demonstrate comparable efficacy and safety in managing irritability in children and adolescents with ASD.</div><div><strong>Trial Registry no:</strong> Clinical Trial Registry of India (CTRI/2021/12/038721).</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104454"},"PeriodicalIF":1.3,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157447","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}
Pub Date : 2025-09-25DOI: 10.1016/j.braindev.2025.104449
Eun Song Song , Sanghoon Lee , Young Ok Kim
Background
Self-limited epilepsy with centrotemporal spikes (SeLECTS) is a well-known self-limited focal epilepsy in children. While centrotemporal discharges remit with age, the timing and biomarkers predicting EEG normalization and polytherapy needs are not well established.
Purpose
This study aimed to identify the timing of EEG remission and electroclinical biomarkers influencing remission and polytherapy needs in SeLECTS.
Methods
We retrospectively reviewed 153 of 401 patients (<18 years) with SeLECTS whose sleep EEGs normalized (2010–2025, Chonnam National University Hospital).
Results
The median age at sleep EEG normalization was 11.4 years (IQR, 10.1–13.2), with a median interval of 45.9 months (IQR, 27.0–66.8). Seizure-onset age correlated positively with EEG normalization age (R = 0.457) and negatively with the interval to normalization (R = −0.508; P < 0.001). EEG normalized younger in patients with unilateral (10.9 vs. 12.0 years, P = 0.002) or right-dominant discharges (11.2 vs. 13.0 years, P = 0.023). The EEG normalization interval increased with a longer gap between the first and second seizures (R = 0.279; P = 0.001). It was shorter in unilateral discharges (28.1 vs. 53.9 months; P < 0.001), and longer in the polytherapy group (57.3 vs. 43.5 months; P = 0.006). Polytherapy was more frequent in early childhood (50.5 % vs. 21.0 %; P = 0.005), and in patients with Todd's paralysis (71.4 % vs. 26.0 %; P = 0.019), daytime seizures (64.7 % vs. 23.5 %; P < 0.001), or attention deficit/hyperactivity disorder (ADHD; 66.7 % vs. 25.7 %; P = 0.015).
Conclusion
EEG remission is associated with seizure-onset age and dipole findings, whereas the need for polytherapy is influenced more by atypical clinical than electrical biomarkers.
{"title":"Electroclinical biomarkers predicting EEG normalization and polytherapy needs in self-limited epilepsy with centrotemporal spikes","authors":"Eun Song Song , Sanghoon Lee , Young Ok Kim","doi":"10.1016/j.braindev.2025.104449","DOIUrl":"10.1016/j.braindev.2025.104449","url":null,"abstract":"<div><h3>Background</h3><div>Self-limited epilepsy with centrotemporal spikes (SeLECTS) is a well-known self-limited focal epilepsy in children. While centrotemporal discharges remit with age, the timing and biomarkers predicting EEG normalization and polytherapy needs are not well established.</div></div><div><h3>Purpose</h3><div>This study aimed to identify the timing of EEG remission and electroclinical biomarkers influencing remission and polytherapy needs in SeLECTS.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed 153 of 401 patients (<18 years) with SeLECTS whose sleep EEGs normalized (2010–2025, Chonnam National University Hospital).</div></div><div><h3>Results</h3><div>The median age at sleep EEG normalization was 11.4 years (IQR, 10.1–13.2), with a median interval of 45.9 months (IQR, 27.0–66.8). Seizure-onset age correlated positively with EEG normalization age (<em>R</em> = 0.457) and negatively with the interval to normalization (<em>R</em> = −0.508; <em>P</em> < 0.001). EEG normalized younger in patients with unilateral (10.9 vs. 12.0 years, <em>P</em> = 0.002) or right-dominant discharges (11.2 vs. 13.0 years, <em>P</em> = 0.023). The EEG normalization interval increased with a longer gap between the first and second seizures (<em>R</em> = 0.279; <em>P</em> = 0.001). It was shorter in unilateral discharges (28.1 vs. 53.9 months; <em>P</em> < 0.001), and longer in the polytherapy group (57.3 vs. 43.5 months; <em>P</em> = 0.006). Polytherapy was more frequent in early childhood (50.5 % vs. 21.0 %; <em>P</em> = 0.005), and in patients with Todd's paralysis (71.4 % vs. 26.0 %; <em>P</em> = 0.019), daytime seizures (64.7 % vs. 23.5 %; <em>P</em> < 0.001), or attention deficit/hyperactivity disorder (ADHD; 66.7 % vs. 25.7 %; <em>P</em> = 0.015).</div></div><div><h3>Conclusion</h3><div>EEG remission is associated with seizure-onset age and dipole findings, whereas the need for polytherapy is influenced more by atypical clinical than electrical biomarkers.</div><div>Keywords: Child; epilepsy, rolandic; electroencephalography; biomarkers; anticonvulsants.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104449"},"PeriodicalIF":1.3,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157450","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}
Pub Date : 2025-09-25DOI: 10.1016/j.braindev.2025.104455
Ze Dong Jiang , Jin Wang , Cui Wang
Objective
Whether intraventricular hemorrhage (IVH) in preterm babies affects the brainstem auditory pathway is undetermined. This study investigated the functional status of the pathway in preterm babies with IVH to assess the effect of IVH on the pathway.
Methods
Brainstem auditory evoked response (BAER) was studied at term equivalent age in 83 preterm babies with or without IVH and 35 normal term controls, and between different groups of babies to detect any abnormality in preterm IVH babies.
Results
Compared to the normal term group, the preterm IVH group manifested an elevated BAER threshold (p < 0.01). The IVH group also manifested moderate prolongation in BAER wave latencies and significant reduction in waves III and V amplitudes (p < 0.05, and 0.05). Compared to the age-matched non-IVH group, the IVH group manifested a moderately higher BAER threshold and relatively shorter wave V latency. However, the I-V interval in the IVH group was significantly shorter than in the non-IVH group (p < 0.05). The amplitudes of BAER waves in the IVH group were smaller than in the non-IVH group, and the differences were significant for wave III amplitude (p < 0.05).
Conclusion
This first specific BAER study in IVH revealed that preterm babies with IVH are associated with moderately elevated hearing threshold and shortened brainstem auditory conduction. Brainstem auditory function in preterm babies is affected by IVH.
{"title":"The impact of intraventricular hemorrhage on brainstem auditory function in preterm babies","authors":"Ze Dong Jiang , Jin Wang , Cui Wang","doi":"10.1016/j.braindev.2025.104455","DOIUrl":"10.1016/j.braindev.2025.104455","url":null,"abstract":"<div><h3>Objective</h3><div>Whether intraventricular hemorrhage (IVH) in preterm babies affects the brainstem auditory pathway is undetermined. This study investigated the functional status of the pathway in preterm babies with IVH to assess the effect of IVH on the pathway.</div></div><div><h3>Methods</h3><div>Brainstem auditory evoked response (BAER) was studied at term equivalent age in 83 preterm babies with or without IVH and 35 normal term controls, and between different groups of babies to detect any abnormality in preterm IVH babies.</div></div><div><h3>Results</h3><div>Compared to the normal term group, the preterm IVH group manifested an elevated BAER threshold (<em>p</em> < 0.01). The IVH group also manifested moderate prolongation in BAER wave latencies and significant reduction in waves III and V amplitudes (<em>p</em> < 0.05, and 0.05). Compared to the age-matched non-IVH group, the IVH group manifested a moderately higher BAER threshold and relatively shorter wave V latency. However, the I-V interval in the IVH group was significantly shorter than in the non-IVH group (<em>p</em> < 0.05). The amplitudes of BAER waves in the IVH group were smaller than in the non-IVH group, and the differences were significant for wave III amplitude (<em>p</em> < 0.05).</div></div><div><h3>Conclusion</h3><div>This first specific BAER study in IVH revealed that preterm babies with IVH are associated with moderately elevated hearing threshold and shortened brainstem auditory conduction. Brainstem auditory function in preterm babies is affected by IVH.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104455"},"PeriodicalIF":1.3,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157448","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}
TANGO2 deficiency disorder (TDD) is a rare autosomal recessive disease that causes recurrent metabolic crises characterized by encephalopathy, rhabdomyolysis, fatal arrhythmia, and hypothyroidism, among others. However, the clinical course of muscle magnetic resonance imaging (MRI) and thyroid function in TDD have not been well described.
Case presentation
The patient was a 3-year-old boy with no relevant medical history. After showing episodic ataxia, he developed metabolic crises twice and was eventually diagnosed with TDD with a novel variant. During the clinical course, MRI showed migratory signal changes in the lower limb muscles, primarily affecting the gastrocnemius, soleus, biceps femoris, and vastus medialis during the two episodes of rhabdomyolysis. Furthermore, the patient experienced a thyroid function abnormality with a primary hypothyroidism pattern that resolved spontaneously.
Conclusion
The case findings provide novel clinical insights into muscle MRI findings and thyroid function abnormalities in TDD and can help in early diagnosis and management of TDD.
{"title":"Muscle and thyroid manifestations in TANGO2 deficiency disorder: a case study of novel biallelic variants","authors":"Ryo Sugiyama , Yuko Shimizu-Motohashi , Yuka Sakata , Taku Omata , Jun-ichi Takanashi , Shogo Furukawa , Mitsuko Nakashima , Hirotomo Saitsu , Noriko Sato , Hirofumi Komaki","doi":"10.1016/j.braindev.2025.104442","DOIUrl":"10.1016/j.braindev.2025.104442","url":null,"abstract":"<div><h3>Introduction</h3><div>TANGO2 deficiency disorder (TDD) is a rare autosomal recessive disease that causes recurrent metabolic crises characterized by encephalopathy, rhabdomyolysis, fatal arrhythmia, and hypothyroidism, among others. However, the clinical course of muscle magnetic resonance imaging (MRI) and thyroid function in TDD have not been well described.</div></div><div><h3>Case presentation</h3><div>The patient was a 3-year-old boy with no relevant medical history. After showing episodic ataxia, he developed metabolic crises twice and was eventually diagnosed with TDD with a novel variant. During the clinical course, MRI showed migratory signal changes in the lower limb muscles, primarily affecting the gastrocnemius, soleus, biceps femoris, and vastus medialis during the two episodes of rhabdomyolysis. Furthermore, the patient experienced a thyroid function abnormality with a primary hypothyroidism pattern that resolved spontaneously.</div></div><div><h3>Conclusion</h3><div>The case findings provide novel clinical insights into muscle MRI findings and thyroid function abnormalities in TDD and can help in early diagnosis and management of TDD.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104442"},"PeriodicalIF":1.3,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145157387","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}
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.
{"title":"Glutamate in cerebrospinal fluid as a diagnostic marker for acute encephalopathy in childhood","authors":"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","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":"2025-09-24","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}
Pub Date : 2025-09-23DOI: 10.1016/j.braindev.2025.104444
Chi Hou , Yiru Zeng , Wenxiao Wu , Haixia Zhu , Wenlin Wu , Yang Tian, Lianfeng Chen, Wen-Xiong Chen, Yuanyuan Gao, Xiaojing Li
Purpose
To retrospectively analyze the clinical characteristics and relapse factors of children with relapsed anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis in south China.
Methods
Clinical data of children diagnosed with relapsed anti-NMDAR encephalitis in Guangzhou Women and Children's Medical Center from October 2014 to June 2022 were collected. Patients with monophasic disease course in the same follow-up period were randomly selected as controls. Statistical analysis was performed using SPSS IBM 28.0 and figures were graphed using GraphPad Prism 7.01.
Results
A total of 18 children diagnosed with relapsed anti-NMDAR encephalitis (male: female 5:13). The initial onset age was (9.8 ± 3.1) year-old. Relapse interval was 7.0 [interquartile range (IQR) 6.5–15.0] months. Compared with relapses, neurological symptoms were more extensive and mRS scores were higher at the first episode (P = 0.000 in both). Female gender was an independent risk factor for relapse [odds ratio (OR) =0.055, 95 % confidence interval (CI): 0.003–0.907, P = 0.043]. Compared to the patients with monophasic disease course, the relapsed ones were prone to leave neurological sequelae (P = 0.011) at the last follow-up.
Conclusions
Relapses often occur within 1 year after the first episode in children with anti-NMDAR encephalitis. Relapses were milder than first episodes. Female sex is an independent risk factor for relapses. The relapsed individuals were prone to leave neurological sequelae at the last follow-up.
{"title":"Relapse in pediatric anti-N-methyl-d-aspartate receptor encephalitis: A cohort study in one of the national children's medical center in China","authors":"Chi Hou , Yiru Zeng , Wenxiao Wu , Haixia Zhu , Wenlin Wu , Yang Tian, Lianfeng Chen, Wen-Xiong Chen, Yuanyuan Gao, Xiaojing Li","doi":"10.1016/j.braindev.2025.104444","DOIUrl":"10.1016/j.braindev.2025.104444","url":null,"abstract":"<div><h3>Purpose</h3><div>To retrospectively analyze the clinical characteristics and relapse factors of children with relapsed anti-<em>N</em>-methyl-<span>d</span>-aspartate receptor (NMDAR) encephalitis in south China.</div></div><div><h3>Methods</h3><div>Clinical data of children diagnosed with relapsed anti-NMDAR encephalitis in Guangzhou Women and Children's Medical Center from October 2014 to June 2022 were collected. Patients with monophasic disease course in the same follow-up period were randomly selected as controls. Statistical analysis was performed using SPSS IBM 28.0 and figures were graphed using GraphPad Prism 7.01.</div></div><div><h3>Results</h3><div>A total of 18 children diagnosed with relapsed anti-NMDAR encephalitis (male: female 5:13). The initial onset age was (9.8 ± 3.1) year-old. Relapse interval was 7.0 [interquartile range (IQR) 6.5–15.0] months. Compared with relapses, neurological symptoms were more extensive and mRS scores were higher at the first episode (<em>P</em> = 0.000 in both). Female gender was an independent risk factor for relapse [odds ratio (OR) =0.055, 95 % confidence interval (CI): 0.003–0.907, <em>P</em> = 0.043]. Compared to the patients with monophasic disease course, the relapsed ones were prone to leave neurological sequelae (<em>P</em> = 0.011) at the last follow-up.</div></div><div><h3>Conclusions</h3><div>Relapses often occur within 1 year after the first episode in children with anti-NMDAR encephalitis. Relapses were milder than first episodes. Female sex is an independent risk factor for relapses. The relapsed individuals were prone to leave neurological sequelae at the last follow-up.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 5","pages":"Article 104444"},"PeriodicalIF":1.3,"publicationDate":"2025-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145120888","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}
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