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Levetiracetam for pediatric migraine prophylaxis: A narrative review 用于小儿偏头痛预防的左乙拉西坦:叙述性综述。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-17 DOI: 10.1016/j.braindev.2024.104304
Maryam Shahrokhi , Amir Mohammad Davari Fard Pur , Negar Shafaei-Bajestani , Habibeh Mashayekhi-sardoo
{"title":"Levetiracetam for pediatric migraine prophylaxis: A narrative review","authors":"Maryam Shahrokhi ,&nbsp;Amir Mohammad Davari Fard Pur ,&nbsp;Negar Shafaei-Bajestani ,&nbsp;Habibeh Mashayekhi-sardoo","doi":"10.1016/j.braindev.2024.104304","DOIUrl":"10.1016/j.braindev.2024.104304","url":null,"abstract":"<div><h3>Background</h3><div>Migraine, a common primary headache disorder, affects children and adolescents under 18, often bilateral and lasting 2–72  hours, affecting 7.7% of them.</div></div><div><h3>Objective</h3><div>Recent studies on migraine prevention and treatment in children and adolescents have explored the potential benefits of levetiracetam, considering its side effects and potential effects on migraines. Hence, we aimed to review the studies that have examined the possible mechanism and beneficial effects of levetiracetam in children's and adolescents' migraine.</div></div><div><h3>Methods</h3><div>A comprehensive search of English and non-English trials evaluating levetiracetam's effectiveness in pediatric migraine treatment using relevant keywords was conducted in scientific databases including PubMed, Web of Science, and the Cochrane Controlled Trials Register in Feb 2024. The studies included non-randomized controlled trials, uncontrolled trials, and retrospectively reviewed medical charts plus randomized controlled trials.</div></div><div><h3>Results</h3><div>Seven studies were included in this review. They revealed that levetiracetam can promisingly complete the resolution of migraines, and decrease the duration, severity, number of migraine episodes, and frequency of migraine in children. In addition, levetiracetam diminished the Pediatric Migraine Disability Assessment Scale score in them.</div></div><div><h3>Conclusion</h3><div>Seven studies suggest levetiracetam, at doses ranging from 20 to 60 mg/kg/day (250–3000 mg/day), can significantly reduce migraine frequency and duration, but larger controlled trials are needed.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104304"},"PeriodicalIF":1.4,"publicationDate":"2024-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649606","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
Impact of COVID-19 pandemic on accesses for seizures in the pediatric emergency department COVID-19 大流行对儿科急诊室癫痫发作就诊的影响。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-16 DOI: 10.1016/j.braindev.2024.104303
Alberto M. Cappellari , Alessandro Salici , Antonio A. Tirozzi , Maria T. Molisso , Gaia Bruschi , Elisabetta Lo Iudice , Sarah Palumbo , Giuseppe Bertolozzi
{"title":"Impact of COVID-19 pandemic on accesses for seizures in the pediatric emergency department","authors":"Alberto M. Cappellari ,&nbsp;Alessandro Salici ,&nbsp;Antonio A. Tirozzi ,&nbsp;Maria T. Molisso ,&nbsp;Gaia Bruschi ,&nbsp;Elisabetta Lo Iudice ,&nbsp;Sarah Palumbo ,&nbsp;Giuseppe Bertolozzi","doi":"10.1016/j.braindev.2024.104303","DOIUrl":"10.1016/j.braindev.2024.104303","url":null,"abstract":"<div><h3>Background</h3><div>Several studies reported a reduced rate of accesses to pediatric emergency department (ED) for seizures during COVID-19 pandemic. The aim of our study is to evaluate the attendance to pediatric ED for seizures, as well as the influence of seizure type and personal history of seizures on the rate of admissions during the pandemic period.</div></div><div><h3>Methods</h3><div>The number and clinical features of patients admitted to the pediatric ED because of seizures were collected at a single hospital in Milan, Italy, between January 2017 and December 2021. The impact of COVID-19 on the rate of admissions was quantified by using the incidence rate ratio (IRR), comparing the pandemic period (March 2020 to December 2021) to the pre-pandemic (January 2017 to February 2020).</div></div><div><h3>Results</h3><div>During the study period, 1091 patients with seizures were evaluated, 776 (71.1 %) before the pandemic and 315 (28.9 %) during the pandemic. Mean age at evaluation was 3.9 years (range: 1 month to 17 years). During the pandemic, we found a 30 % decrease in evaluation rates per month (IRR, 0.70; 95 % CI, 0.58–0.84), as well as an increased rate of unprovoked seizures (44.8 %, vs 26.5 %, <em>p</em> &lt; 0.001) and focal seizures (29.5 % vs 13.1 %, <em>p</em> &lt; 0.001).</div></div><div><h3>Conclusions</h3><div>Our study showed a reduction in the number of emergency evaluations for seizures during the COVID-19 pandemic. The rate of evaluations was influenced by seizure type and previous history of seizures.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104303"},"PeriodicalIF":1.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649605","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
Clinical characteristics and management of plexiform neurofibromas in children with neurofibromatosis 1: A Japanese nationwide survey 神经纤维瘤病 1 患儿丛状神经纤维瘤的临床特征和治疗:日本全国调查。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-16 DOI: 10.1016/j.braindev.2024.10.008
Masafumi Sanefuji , Takuji Nakamura , Naoya Higuchi , Hidetaka Niizuma , Yasuhiro Kawachi , Tadashi Shiohama , Yuichi Yoshida , Akihiko Asahina , Muneaki Matsuo
{"title":"Clinical characteristics and management of plexiform neurofibromas in children with neurofibromatosis 1: A Japanese nationwide survey","authors":"Masafumi Sanefuji ,&nbsp;Takuji Nakamura ,&nbsp;Naoya Higuchi ,&nbsp;Hidetaka Niizuma ,&nbsp;Yasuhiro Kawachi ,&nbsp;Tadashi Shiohama ,&nbsp;Yuichi Yoshida ,&nbsp;Akihiko Asahina ,&nbsp;Muneaki Matsuo","doi":"10.1016/j.braindev.2024.10.008","DOIUrl":"10.1016/j.braindev.2024.10.008","url":null,"abstract":"<div><h3>Objectives</h3><div>To investigate the clinical characteristics and management of plexiform neurofibromas (PNs) in Japanese children with neurofibromatosis 1 (NF1) in the beginning of a new era of treatment with mitogen-activated protein kinase/extracellular signal-regulated kinase kinase (MEK) inhibitor selumetinib.</div></div><div><h3>Study design</h3><div>Primary and secondary surveys were conducted targeting 1612 departments of pediatrics and dermatology in hospitals with ≥300 beds and children's hospitals, which followed up pediatric patients with NF1-associated PN between April 1, 2022, and April 30, 2024, in Japan.</div></div><div><h3>Results</h3><div>The response rates in the primary and secondary surveys were 40.4 % and 33.8 %, respectively, and 49 patients were followed up in 23 departments. Their ages at the time ranged from 3.3 to 18.8 years and the onset of PN was most frequently recognized during the first year of life. PN was most often observed superficially in the face (39 %), neck (27 %), and head (24 %), followed by the buttocks (20 %), back (18 %), and thighs (18 %). In addition, PNs could be identified radiologically in the spinal/paraspinal regions (18 %) and pelvis (16 %), where they were rarely visible on the corresponding body surfaces. Major morbidities were cosmetic disfigurement (78 %), pain (53 %), and dysfunction (61 %). Selumetinib use was frequent (69 %) and significantly associated with pain (<em>chi</em>-square test, <em>p</em> = 0.014) and dysfunction (<em>p</em> = 0.014).</div></div><div><h3>Conclusions</h3><div>This retrospective nationwide study revealed early onset, diverse tumor locations, and varying morbidities in children with NF1-PN, underscoring the need for early evaluation and optimal treatment. A prospective multicenter registry system is warranted to attain better management.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104300"},"PeriodicalIF":1.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649601","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
Regulatory mechanism of LncRNA GAS5 in cognitive dysfunction induced by sevoflurane anesthesia in neonatal rats 七氟醚麻醉诱导新生大鼠认知功能障碍的LncRNA GAS5调控机制
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-16 DOI: 10.1016/j.braindev.2024.10.003
Xi Chen, Yu Zhang, Nan Hu, Qian Pan, Kaiyuan Wang, Yiqing Yin
{"title":"Regulatory mechanism of LncRNA GAS5 in cognitive dysfunction induced by sevoflurane anesthesia in neonatal rats","authors":"Xi Chen,&nbsp;Yu Zhang,&nbsp;Nan Hu,&nbsp;Qian Pan,&nbsp;Kaiyuan Wang,&nbsp;Yiqing Yin","doi":"10.1016/j.braindev.2024.10.003","DOIUrl":"10.1016/j.braindev.2024.10.003","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Sevoflurane (Sev) exposure may provoke deleterious effects on cognitive function. This study explores the mechanism of long non-coding RNA growth arrest specific transcript 5 (LncRNA GAS5) in Sev-induced cognitive dysfunction in neonatal rats.</div></div><div><h3>Methods</h3><div>Cognitive dysfunction was induced by Sev anesthesia in 7-day-old Sprague-Dawley rats, followed by open field test, novel object recognition, radial arm maze, and Morris water maze to evaluate cognitive function of rats. The subcellular localization of LncRNA GAS5 was detected by nucleocytoplasmic isolation assay, and the binding of miR-137 to LncRNA GAS5 and NKCC1 was detected by RNA pull down and dual-luciferase reporter assay, respectively. Adenovirus-packaged sh-LncRNA GAS5 was injected into the hippocampus of Sev rats. qRT-PCR and Western blot were performed to detect the expressions of LncRNA GAS5, miR-137 and NKCC1 in the hippocampus of rats.</div></div><div><h3>Results</h3><div>Sev anesthesia led to cognitive dysfunction in neonatal rats. LncRNA GAS5 was highly expressed in Sev rats, and inhibition of LncRNA GAS5 alleviated Sev-induced cognitive dysfunction in rats. LncRNA GAS5 targeted miR-137, and miR-137 inhibited NKCC1 expression. Knockdown of miR-137 or overexpression of NKCC1 reversed the effect of LncRNA GAS5 inhibition on cognitive dysfunction in sev rats.</div></div><div><h3>Conclusion</h3><div>LncRNA GAS5 promotes Sev-induced cognitive dysfunction in neonatal rats via the miR-137/NKCC1 axis.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104295"},"PeriodicalIF":1.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142649613","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
Association between small for gestational age and motor coordination difficulties in children aged 5–6 years: Insights from the Hokkaido Study on Environment and Children's Health 胎龄小与 5-6 岁儿童运动协调困难之间的关系:北海道环境与儿童健康研究的启示。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-15 DOI: 10.1016/j.braindev.2024.10.004
Maki Tojo , Hiroyoshi Iwata , Naomi Tamura , Takeshi Yamaguchi , Kenji J. Tsuchiya , Satoshi Suyama , Taku Obara , Akio Nakai , Toshio Yoshikawa , Toyoki Yamagata , Mariko Itoh , Keiko Yamazaki , Sumitaka Kobayashi , Reiko Kishi
{"title":"Association between small for gestational age and motor coordination difficulties in children aged 5–6 years: Insights from the Hokkaido Study on Environment and Children's Health","authors":"Maki Tojo ,&nbsp;Hiroyoshi Iwata ,&nbsp;Naomi Tamura ,&nbsp;Takeshi Yamaguchi ,&nbsp;Kenji J. Tsuchiya ,&nbsp;Satoshi Suyama ,&nbsp;Taku Obara ,&nbsp;Akio Nakai ,&nbsp;Toshio Yoshikawa ,&nbsp;Toyoki Yamagata ,&nbsp;Mariko Itoh ,&nbsp;Keiko Yamazaki ,&nbsp;Sumitaka Kobayashi ,&nbsp;Reiko Kishi","doi":"10.1016/j.braindev.2024.10.004","DOIUrl":"10.1016/j.braindev.2024.10.004","url":null,"abstract":"<div><h3>Background</h3><div>Developmental coordination disorder (DCD) presents motor skill delays in early childhood and has been associated with later maladaptation, necessitating early intervention. However, research on the potential risk factors, particularly in preschool-aged children, remains scarce.</div></div><div><h3>Aims</h3><div>We aimed to explore the association between small for gestational age (SGA) and other factors and motor coordination problems in 5–6-year-olds from the Hokkaido Study on Environment and Children's Health Cohort.</div></div><div><h3>Study design</h3><div>Prospective.</div></div><div><h3>Subjects</h3><div>We analyzed data from &gt;3500 participants from the Hokkaido Study, a prospective birth cohort, and assessed children aged 5–6 years.</div></div><div><h3>Outcome measures</h3><div>Participants underwent assessment with the Developmental Coordination Disorder Questionnaire Japanese version (DCDQ-J). We conducted linear regression analyses adjusted for variables such as the child's sex, maternal age, and maternal smoking history during pregnancy, while also examining the independent associations of each risk factor.</div></div><div><h3>Results</h3><div>Among the 3883 children analyzed for SGA, children with SGA exhibited significantly lower DCDQ-J total scores than non-SGA children (mean difference: −2.25, 95 % confidence interval [−4.19, −0.30], <em>p</em> = 0.02). On the subscales, children with SGA demonstrated significantly lower “Control During Movement” scores than non-SGA children (mean difference: −0.96, 95 % confidence interval [−1.78, −0.13], <em>p</em> = 0.02). Furthermore, the child's sex, maternal smoking, maternal age, and preterm birth were independently associated with DCD.</div></div><div><h3>Conclusions</h3><div>SGA was shown to be one of the risk factors for the manifestation of motor coordination difficulties in 5–6-years old children. In combination with other factors, screening for motor coordination difficulties in SGA children will be an important means of initiating appropriate interventions.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104296"},"PeriodicalIF":1.4,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142640417","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
Safety and efficacy of viltolarsen treatment in patients with Duchenne muscular dystrophy: A retrospective study with 3-year follow-up 维托拉生治疗杜氏肌营养不良症患者的安全性和有效性:一项为期三年的回顾性研究。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-15 DOI: 10.1016/j.braindev.2024.10.005
Michinori Funato , Reina Iwata , Toru Ando , Motohiro Takeuchi , Yohei Horibe , Takashi Funato , Junko Oota , Ryoya Uno , Misaki Yumioka , Emi Kondo , Miho Katoyama , Chie Ito , Yoshiko Kato , Yuji Yamada , Toshifumi Kusukawa
{"title":"Safety and efficacy of viltolarsen treatment in patients with Duchenne muscular dystrophy: A retrospective study with 3-year follow-up","authors":"Michinori Funato ,&nbsp;Reina Iwata ,&nbsp;Toru Ando ,&nbsp;Motohiro Takeuchi ,&nbsp;Yohei Horibe ,&nbsp;Takashi Funato ,&nbsp;Junko Oota ,&nbsp;Ryoya Uno ,&nbsp;Misaki Yumioka ,&nbsp;Emi Kondo ,&nbsp;Miho Katoyama ,&nbsp;Chie Ito ,&nbsp;Yoshiko Kato ,&nbsp;Yuji Yamada ,&nbsp;Toshifumi Kusukawa","doi":"10.1016/j.braindev.2024.10.005","DOIUrl":"10.1016/j.braindev.2024.10.005","url":null,"abstract":"<div><h3>Background</h3><div>Duchenne muscular dystrophy (DMD) is a hereditary neuromuscular disorder characterized by severe, progressive muscle wasting. Viltolarsen, a formulation consisting of exon 53-skipping antisense oligonucleotides of the dystrophin gene, has been indicated for some patients with DMD. However, reports describing the efficacy and safety of viltolarsen treatment in patients with DMD, particularly those comparing patients receiving viltolarsen with age- and time-period-matched controls, are limited. This study aimed to confirm the safety and efficacy of viltolarsen treatment in patients with DMD.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed real-world data of patients with DMD aged 6–19 years who started viltolarsen treatment between July 2020 and February 2021 and compared them with age- and time-period-matched patients with DMD who did not receive viltolarsen.</div></div><div><h3>Results</h3><div>Five patients received viltolarsen treatment for over 3 years. Three of the four patients who received viltolarsen once weekly maintained motor function, while one ambulatory patient showed remarkably slow motor function decline. Conversely, eight of nine patients who did not receive viltolarsen and one patient who underwent intermittent viltolarsen treatment showed motor function deterioration. Two patients showed significant treatment-related adverse events, namely swelling of the dorsal surface of the right hand due to extravasation of viltolarsen in one patient and axillary lymph node enlargement due to frequent intravenous infusion in another patient. None of the patients discontinued viltolarsen.</div></div><div><h3>Conclusions</h3><div>Viltolarsen was a safe and effective treatment for patients with DMD, and the findings highlighted the importance of once-weekly and uninterrupted viltolarsen treatment. The distinct safety and efficacy of viltolarsen require further investigation using a large number of cases and a long follow-up period.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104297"},"PeriodicalIF":1.4,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142645190","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
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes 伴侣疗法:稳定和增强内源性和外源性溶酶体酶。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-15 DOI: 10.1016/j.braindev.2024.10.006
Yoshiyuki Suzuki
{"title":"Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes","authors":"Yoshiyuki Suzuki","doi":"10.1016/j.braindev.2024.10.006","DOIUrl":"10.1016/j.braindev.2024.10.006","url":null,"abstract":"<div><div>Chaperone therapy is a new concept of molecular therapeutic approach to protein misfolding diseases, particularly to lysosomal diseases. Initially we started molecular analysis of culture cells, model animals and patients with Fabry disease and G<sub>M1</sub>-gangliosidosis. Some mutant enzyme proteins did not express the catalytic activity because of unstable molecular structure in somatic cells. The small molecule compound (chaperone) corrected misfolding of the unstable mutant protein, resulting in restoration of the enzyme activity (chaperone therapy). This pathological molecular event was studied first in endogenous mutant enzymes. Then a similar molecular interaction was found between the chaperone and the exogenous protein supplied for enzyme replacement therapy (ERT) in Pompe disease. This new chaperone-ERT combination therapy will become another useful technology in order to expand the application of chaperone therapy to a wide range of lysosomal diseases. Thus, chaperone therapy is expected in future for stabilization and enhancement of exogenously supplied ERT enzymes as well as endogenous mutant enzymes.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 1","pages":"Article 104298"},"PeriodicalIF":1.4,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142645189","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
Looks can be deceiving: An appraisal of Sturge weber syndrome type III case series 外表是会骗人的:对韦伯综合征 III 型病例系列的评估。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.09.003
Vaishakh Anand , Kollencheri Puthenveettil Vinayan , Shilpa Radhakrishnan
{"title":"Looks can be deceiving: An appraisal of Sturge weber syndrome type III case series","authors":"Vaishakh Anand ,&nbsp;Kollencheri Puthenveettil Vinayan ,&nbsp;Shilpa Radhakrishnan","doi":"10.1016/j.braindev.2024.09.003","DOIUrl":"10.1016/j.braindev.2024.09.003","url":null,"abstract":"","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 10","pages":"Page 392"},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301813","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
Characterizing visual processing deficits in cerebral adrenoleukodystrophy 脑肾上腺白质营养不良症视觉处理缺陷的特征。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.09.008
Camille S. Corre , Melissa Bambery , Christopher R. Bennett , Amanda Nagy , Claire E. Manley , Ellen Winter , Cary Peregoy , Daniel Kelly , Haley Andonian , Stacy Maciel , Catherine Becker , Lotfi B. Merabet , Florian S. Eichler
{"title":"Characterizing visual processing deficits in cerebral adrenoleukodystrophy","authors":"Camille S. Corre ,&nbsp;Melissa Bambery ,&nbsp;Christopher R. Bennett ,&nbsp;Amanda Nagy ,&nbsp;Claire E. Manley ,&nbsp;Ellen Winter ,&nbsp;Cary Peregoy ,&nbsp;Daniel Kelly ,&nbsp;Haley Andonian ,&nbsp;Stacy Maciel ,&nbsp;Catherine Becker ,&nbsp;Lotfi B. Merabet ,&nbsp;Florian S. Eichler","doi":"10.1016/j.braindev.2024.09.008","DOIUrl":"10.1016/j.braindev.2024.09.008","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Cerebral adrenoleukodystrophy (CALD) can cause visual impairment, but early symptoms are often missed or misdiagnosed. The framework of cerebral visual impairment (CVI) distinguishes deficits in sensory detection (“lower order”) from those of perception and interpretation (“higher order”). This study describes visual deficits in patients with CALD and higher order visual function assessed with a virtual reality (VR) interface combined with eye tracking.</div></div><div><h3>Methods</h3><div>A retrospective medical record review assessed the prevalence of visual deficits in patients with CALD, as well as lesion burden on brain MRI using the Loes MRI severity score. A VR-based task measured visual spatial processing performance in participants with CALD and controls.</div></div><div><h3>Results</h3><div>Out of 89 CALD patients, 69 % had at least one sign or symptom of visual impairment. Lower order deficits were seen in 56 % of patients, and higher order deficits were seen in 59 % of patients who underwent neuropsychological testing. Even in early stage disease (Loes MRI severity score ≤ 3), visual impairment was present in more than half of patients (58 %). On prospective VR-based assessment, the CALD group (<em>n</em> = 30) had impaired visual search performance (lower success rate and longer reaction time) compared with controls (<em>n</em> = 38). In both groups, there was a trend of worsening performance with increasing task difficulty.</div></div><div><h3>Discussion</h3><div>Higher order visual deficits, not just impairment of visual acuity, visual fields, or oculomotor function, are common in all stages of CALD. Beyond neuropsychological testing, VR-based functional testing allows for quantitative assessment of higher order visual perceptual deficits that are relevant to everyday tasks and may serve as an important marker of neurological decline.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"46 10","pages":"Pages 344-350"},"PeriodicalIF":1.4,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142481868","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
Translation and validation of the Thai Version of the Japanese Sleep Questionnaire for Preschoolers (JSQ-P) 泰语版日本学龄前儿童睡眠问卷(JSQ-P)的翻译和验证。
IF 1.4 4区 医学
Brain & Development Pub Date : 2024-11-01 DOI: 10.1016/j.braindev.2024.08.003
Natcha Lueangapapong , Jariya Chuthapisith , Lunliya Thampratankul
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