Brain & Development最新文献

{"title":"COVID-19 infection and vaccination in children with Dravet syndrome or infantile epileptic spasms syndrome: An internet survey in Japan","authors":"Susumu Ito ,&nbsp;Aiko Nishikawa ,&nbsp;Ruby Kuroiwa ,&nbsp;Kaori Honda ,&nbsp;Satoru Nagata","doi":"10.1016/j.braindev.2025.104352","DOIUrl":"10.1016/j.braindev.2025.104352","url":null,"abstract":"<div><h3>Background</h3><div>This study aimed to clarify the status of coronavirus disease 2019 (COVID-19) infection and vaccination among children with infantile-onset drug-resistant epilepsy through an internet survey involving Dravet syndrome (DS) and infantile epileptic spasms syndrome (IESS) family associations.</div></div><div><h3>Methods</h3><div>A web-based survey was conducted between October and November 2023, targeting parents of children aged ≤15 years with DS or IESS who were members of the Dravet Syndrome JP or West Syndrome JP family associations, covering patient characteristics, COVID-19 infection, and vaccination.</div></div><div><h3>Results</h3><div>A total of 151 and 112 responses were obtained. COVID-19 infections occurred in 68.2 % and 52.7 % of DS and IESS cases, respectively. Fever-triggered seizures were reported in 61.8 % of DS and 3.6 % of IESS cases. Among DS cases, 22.8 % (8.0 % vaccinated), 36.6 % (20.0 % vaccinated), and 34.0 % (16.0 % vaccinated) required temporary visits for seizure exacerbation, emergency visits for seizure clusters/status epilepticus, and seizure-related hospitalizations, respectively. Vaccination rates were 25.3 % for DS and 17.3 % for IESS. Post-vaccination fever-triggered seizures occurred in 2.9 % and 3.5 % of DS cases after the first and second doses, respectively, and 0.0 % of IESS cases. Among DS cases, temporary visits were required in 2.9 % and 0.0 %, emergency visits in 0.0 % for both doses and hospitalizations in 2.9 % and 3.5 %, respectively. Vaccine hesitancy arising from seizure concerns was reported by 66.4 % and 23.0 % of DS and IESS caregivers, respectively.</div></div><div><h3>Conclusion</h3><div>COVID-19 vaccination is well-tolerated and may lower seizure risks in children with DS. However, caregivers should monitor those with a history of fever-triggered seizures.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104352"},"PeriodicalIF":1.4,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735312","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}

{"title":"Influence of SARS-CoV-2 omicron variant infection on seizure occurrence among children: The large-scale multicenter study","authors":"Juhyun Kong ,&nbsp;Sooyoung Lyu ,&nbsp;Sang Ook Nam ,&nbsp;Young Ok Kim ,&nbsp;Ji-ye Ahn ,&nbsp;Jung Sook Yeom ,&nbsp;Sun Ho Lee ,&nbsp;Kyung-Ran Kim ,&nbsp;Bo Lyun Lee ,&nbsp;Yun Jung Hur ,&nbsp;Young Joo Han ,&nbsp;Su-Keong Hwang ,&nbsp;Yun-Jin Lee","doi":"10.1016/j.braindev.2025.104341","DOIUrl":"10.1016/j.braindev.2025.104341","url":null,"abstract":"<div><h3>Purpose</h3><div>During the pandemic of the coronavirus disease 2019 (COVID-19) Omicron variant, we experienced an increase in patients with COVID-19-associated seizures. However, there was a lack of literature about the occurrence of seizures according to different pandemics. Therefore, we investigated the characteristics of seizures in pediatric patients before and after the spread of the Omicron variant.</div></div><div><h3>Method</h3><div>We analyzed the clinical findings of pediatric patients who visited outpatient clinics or emergency rooms and were diagnosed with COVID-19 at seven hospitals in Korea from 2020 to 2022. We divided the participants into pre-Omicron and post-Omicron groups based on whether it was before or after January 1, 2022, the onset of the Omicron variant pandemic in Korea. We then compared seizure incidence and clinical characteristics between the two groups.</div></div><div><h3>Result</h3><div>We enrolled 1608 patients aged 5.2 ± 4.8 years. Among post-Omicron group (<em>n</em> = 1293), 286 (22 %) patients presented with COVID-19-associated seizures; in contrast, only one (0.3 %) patient in pre-Omicron group (<em>n</em> = 315). Status epilepticus occurred in 18 (6.2 %) patients, multiple seizures in 64 (22 %), and afebrile seizures in 33 (11.5 %). Clinical diagnoses of seizures were seizures associated with COVID-19 infection (239/286, 83.6 %), epilepsy (39/286, 13.6 %), neuroinflammatory disease (4/286, 1.4 %), seizures associated with multisystem inflammatory syndrome in children (MIS-C, 4/286, 1.4 %), and hyponatremic seizures (1/286, 0.3 %).</div></div><div><h3>Conclusion</h3><div>The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) omicron variant is associated with a high incidence of seizure as a presenting symptom. Clinical diagnoses vary, including seizures associated with the SARS-CoV-2 omicron variant without a definitive diagnosis, epilepsy, MIS-C, neuroinflammatory disease, and hyponatremia.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104341"},"PeriodicalIF":1.4,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704473","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}

{"title":"Intellectual disability and genotype-phenotype correlation between full-scale intelligence quotient and mutation characteristics in boys with dystrophinopathy","authors":"Indar Kumar Sharawat,&nbsp;Diksha Gupta,&nbsp;Aman Elwadhi,&nbsp;Achanya Palayullakandi,&nbsp;Apurva Tomar,&nbsp;Prateek Kumar Panda","doi":"10.1016/j.braindev.2025.104350","DOIUrl":"10.1016/j.braindev.2025.104350","url":null,"abstract":"<div><h3>Background</h3><div>Neuropsychological evaluations of dystrophinopathy patients indicate a decrease in mean full-scale intelligence quotient (FSIQ) compared to the general population. However, large-scale studies with longitudinal follow-up in this regard are yet to be conducted in the Indian subcontinent.</div></div><div><h3>Methods</h3><div>Verbal, performance, and FSIQ of children with dystrophinopathy, aged 6–16 years were prospectively compared with age/socioeconomic status matched healthy controls, using the <em>Malin's Intelligence Scale for Indian children</em> (MISIC). Additionally, cognitive assessments were repeated in dystrophinopathy boys who completed at least one year of follow-up during study period. Genotype-phenotype correlation was also explored between FSIQ and mutational characteristics by dividing the dystrophinopathy group into <em>Dp427</em>, <em>Dp140</em>, and <em>Dp71</em> isoforms. Furthermore, other clinical/genetic predictors of cognitive status were explored in dystrophinopathy cases.</div></div><div><h3>Results</h3><div>A total of 154 and 77 boys were enrolled in the dystrophinopathy and control groups, respectively. While the dystrophinopathy group had lower scores in verbal, performance, FSIQ, and all sub-tests compared to the control group (<em>p</em> &lt; 0.001), their performance IQ was paradoxically better than verbal IQ (86.9 ± 12.3 vs 83.6 ± 11.4, <em>p</em> = 0.008). The <em>Dp71</em> group had significantly lower verbal, performance, and FSIQ, and this isoform was found to be an independent predictor of intellectual disability in the dystrophinopathy group in multivariate analysis. Follow-up IQ assessment after one year (<em>n</em> = 47) showed a non-significant reduction in FSIQ (85.1 ± 10.7 vs 84.3 ± 11.2, <em>p</em> = 0.64).</div></div><div><h3>Conclusion</h3><div>Boys with dystrophinopathy exhibit lower IQ compared to healthy controls, and the degree of cognitive impairment is more pronounced in cases with the <em>Dp71</em> isoform.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104350"},"PeriodicalIF":1.4,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704472","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}

{"title":"Risk factors for sedation and MRI failure in children with neurodevelopmental disorders undergoing head MRI with oral triclofos sodium and/or rectal chloral hydrate","authors":"Kazumasa Zensho ,&nbsp;Keisuke Itami ,&nbsp;Natsuko Matsuda ,&nbsp;Hiroto Akaike ,&nbsp;Masamichi Kubota ,&nbsp;Toru Asakawa ,&nbsp;Hironobu Tokumasu ,&nbsp;Nobuyoshi Mimaki","doi":"10.1016/j.braindev.2025.104353","DOIUrl":"10.1016/j.braindev.2025.104353","url":null,"abstract":"<div><h3>Background</h3><div>Head magnetic resonance imaging (MRI) is of critical importance in the diagnosis and management of neurodevelopmental disorders. However, the use of sedation in affected children can present a significant challenge.</div></div><div><h3>Aims</h3><div>To identify the factors associated with sedation and MRI failure in children with neurodevelopmental disorders undergoing head MRI with oral triclofos sodium or rectal chloral hydrate.</div></div><div><h3>Methods</h3><div>This retrospective study analyzed 215 MRI sessions of children with neurodevelopmental disorders from January 2020 to December 2021. Sedation was administered via oral triclofos sodium or rectal chloral hydrate. Multivariate logistic regression was used to determine the factors associated with sedation failure and MRI failure.</div></div><div><h3>Results</h3><div>The sedation failure rate was 38.1 % (82/215). Factors significantly associated with sedation failure were older age (odds ratio [OR] 1.59, 95 % confidence interval [CI] 1.30–1.95, p &lt; 0.001) and stranger anxiety (OR 4.07, 95 % CI 1.95–8.49, p &lt; 0.001). The age cut-off for increased sedation failure risk was 4.0 years (<em>p</em> &lt; 0.01). The MRI failure rate was 21.9 % (47/215), associated with autism spectrum disorder (ASD) diagnosis (OR 19.00, 95 % CI 2.43–149.00, p &lt; 0.01), stranger anxiety (OR 3.66, 95 % CI 1.62–8.24, p &lt; 0.01), and place anxiety (OR 3.18, 95 % CI 1.33–7.57, p &lt; 0.01).</div></div><div><h3>Conclusions</h3><div>Older age and stranger anxiety are significant risk factors for sedation failure, while ASD diagnosis, stranger anxiety, and place anxiety increase MRI failure risk in children with neurodevelopmental disorders undergoing head MRI.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104353"},"PeriodicalIF":1.4,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143724612","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}

{"title":"Diffuse but Non-homogeneous Brain Atrophy: Identification of Specific Brain Regions and Their Correlation with Clinical Severity in Rett Syndrome","authors":"Hajime Narita ,&nbsp;Jun Natsume ,&nbsp;Takeshi Suzuki ,&nbsp;Tadashi Shiohama ,&nbsp;Masahiro Kawaguchi ,&nbsp;Masaki Okazaki ,&nbsp;Atsushi Hashizume ,&nbsp;Shinji Naganawa ,&nbsp;Yuji Ito ,&nbsp;Hiroyuki Yamamoto ,&nbsp;Tomohiko Nakata ,&nbsp;Hiroyuki Kidokoro ,&nbsp;Yoshiyuki Takahashi ,&nbsp;Satoru Takahashi ,&nbsp;Keita Tsujimura","doi":"10.1016/j.braindev.2025.104348","DOIUrl":"10.1016/j.braindev.2025.104348","url":null,"abstract":"<div><h3>Background</h3><div>Rett syndrome is a genetic neurodevelopmental disorder that predominantly affects girls. While microcephaly is a common feature, there is limited information on the detailed structural changes in the brain. This study aimed to identify regional brain volume abnormalities and explore the correlation between brain volume and clinical characteristics.</div></div><div><h3>Methods</h3><div>We compared the regional brain volumes of 20 female children with Rett syndrome to those of 25 healthy female children. Additionally, we assessed the correlation between regional brain volume, Clinical Severity Scores, and epilepsy status.</div></div><div><h3>Results</h3><div>Significantly smaller volumes were observed in all brain regions, including the cerebral cortex, cerebral white matter, subcortical gray matter, cerebellum, and brainstem. Within the cortical regions, volume reduction was prominent in the left precentral, right lateral occipital, left precuneus, left inferior parietal, and right medial orbitofrontal cortices. After correcting for intracranial volumes, volume reduction was more prominent in the cerebral cortices than in the cerebral white matter. Small volumes were consistently observed, regardless of age. Negative correlations were observed between the volumes of multiple regions and the Clinical Severity Scores. There were no correlations among regional brain volume, seizure control, or duration of epilepsy.</div></div><div><h3>Conclusion</h3><div>The mechanism underlying the cortical-dominant volume reduction remains unclear; however, it may be caused by altered synapse development associated with methyl-CpG-binding protein 2 gene abnormalities. Characteristic impairments in visual recognition and deterioration of motor function in Rett syndrome may be associated with significant volume reduction in specific cortical regions, such as the lateral occipital cortex, precuneus, and precentral gyrus.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104348"},"PeriodicalIF":1.4,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143697835","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}

{"title":"Age-related variations in opening pressure in lumbar puncture: Implications for its interpretation in children","authors":"Juan David Farfán-Albarracín ,&nbsp;Cristina Lorena Ramírez-Sierra ,&nbsp;Oscar Mauricio Espitia Segura ,&nbsp;Ana Maritza Bedoya Morales ,&nbsp;Sofy Helena Pérez Cárdenas ,&nbsp;Jennifer Julieth Guzmán-Porras ,&nbsp;Luisa Fernanda Lopéz Mora ,&nbsp;Mateo Humberto Ramírez Salazar ,&nbsp;Leydi Alexandra Ceballos Inga ,&nbsp;María Camila Rueda-Rodríguez ,&nbsp;Hugo Andrés Téllez Prada ,&nbsp;Juan David Sanchez Rincón ,&nbsp;Juan Camilo Castro Rubio ,&nbsp;Ingrid Lemus Espitia ,&nbsp;Juan David Guevara-Ramos","doi":"10.1016/j.braindev.2025.104347","DOIUrl":"10.1016/j.braindev.2025.104347","url":null,"abstract":"<div><h3>Introduction</h3><div>Opening pressure in lumbar puncture (LP) is an important parameter in the diagnosis of various neurological diseases. In children pressures may vary according to age. This study aimed to analyze the variation of opening pressure in LP according to age in children.</div></div><div><h3>Methods</h3><div>All LPs performed between February 2017 and March 2023 were analyzed. Patients with modifying factors for opening pressure were excluded. Descriptive analysis was conducted, along with a comparison of means and medians, local regression, and quantile regression. To identify the most relevant cutoff points, graphical analyses were employed.</div></div><div><h3>Results</h3><div>The median opening pressure was 21.0 cm H₂O, with a 10th percentile (P10) of 10 and a 90th percentile (P90) of 32. An increase in opening pressure with age was found. Graphical analysis revealed a significant cutoff point at 96 months. The median opening pressure from 1 to 96 months of age was 19.2 cm H₂O, with a P10 of 8 and a P90 of 28.9. For children older than 96 months, the median was 22 cm H₂O, with a P10 of 11.8 and a P90 of 35.</div></div><div><h3>Conclusion</h3><div>Opening pressures in children vary with age, with no differences related to sex. Graphical analysis indicates that 96 months of age is an important cutoff point. Above this age, standard values could be used, up to 96 months of age, however, it is necessary to conduct studies for reference values. Opening pressure alone is not sufficient for the diagnosis of intracranial hypertension in children.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104347"},"PeriodicalIF":1.4,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143643058","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}

{"title":"A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature","authors":"Davide Politano ,&nbsp;Francesca Marazzi ,&nbsp;Ilaria Scognamillo ,&nbsp;Federica Morelli ,&nbsp;Sabrina Signorini ,&nbsp;Simone Gana ,&nbsp;Silvia Nicolosi ,&nbsp;Elisa Rognone ,&nbsp;Renato Borgatti ,&nbsp;Enza Maria Valente ,&nbsp;Romina Romaniello","doi":"10.1016/j.braindev.2025.104351","DOIUrl":"10.1016/j.braindev.2025.104351","url":null,"abstract":"<div><h3>Background</h3><div><em>ZMYM2</em> heterozygous pathogenic variants cause an ultra-rare disease characterized by a broad clinical phenotype. This condition has been named neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC, MIM#619522). Associated anomalies include congenital abnormalities of the kidney and urinary tract (CAKUT), non-specific facial, cardiac, and skeletal abnormalities, along with a variety of neurodevelopmental disorders. Other abnormalities reported in some patients include infantile hypotonia, poor growth, microcephaly, hypospadias, and motor stereotypies. Recently, one patient with cerebral palsy embedded in a complex phenotype was reported to carry a pathogenic <em>ZMYM2</em> variant.</div></div><div><h3>Case presentation</h3><div>This study presents the case of a 13-year-old girl carrying a <em>de novo ZMYM2</em> heterozygous pathogenic variant. The patient displayed a Rett-like phenotype, associated with non-specific features such as precocious puberty, short stature, facial dysmorphisms, and spastic diplegia.</div></div><div><h3>Conclusions</h3><div>This case expands the known clinical phenotype associated with <em>ZMYM2</em> pathogenic variants, suggesting for the first time a possible link to Rett-like syndromes.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104351"},"PeriodicalIF":1.4,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671751","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}

{"title":"Autism-like features and FOXP1 syndrome: A scoping review","authors":"Jayme Stewart ,&nbsp;Gloria Hyun Young Cho","doi":"10.1016/j.braindev.2025.104346","DOIUrl":"10.1016/j.braindev.2025.104346","url":null,"abstract":"<div><div><em>FOXP1</em> syndrome is a rare neurodevelopmental disorder associated with a range of cognitive, behavioural, and physical consequences, including autism spectrum disorder and associated symptomatology. This scoping review aims to explore the prevalence and characteristics of autism and autism-like features in individuals with <em>FOXP1</em> syndrome. A comprehensive literature search identified 15 studies encompassing 103 participants. Of these, 13 studies (<em>n</em> = 76 participants) detailed autism spectrum disorder diagnostic information, and 13 studies (<em>n</em> = 37 participants) detailed information at the symptom level. Autism spectrum disorder was diagnosed in 39 % (<em>n</em> = 30) of cases, with repetitive and restrictive behaviours being the most commonly reported feature, observed in 89 % (<em>n</em> = 33) of patients. However, significant heterogeneity in study methodologies and diagnostic criteria prevented direct comparisons and may have led to an underestimation of certain symptoms. Additionally, inconsistencies in symptom reporting across studies further limited the accuracy of conclusions. Overall, findings highlight the need for more standardized and detailed assessments of autism-like features in <em>FOXP1</em> syndrome to improve differential diagnosis and inform targeted intervention strategies. Future research should address these gaps to enhance understanding and clinical management of individuals with <em>FOXP1</em> syndrome.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104346"},"PeriodicalIF":1.4,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143642577","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}

{"title":"Characteristics of neonatal-onset and presumed neonatal arterial ischemic stroke","authors":"Kazuto Ueda ,&nbsp;Erina Kataoka ,&nbsp;Jun Natsume ,&nbsp;Ikumi Hori ,&nbsp;Takeshi Tsuji ,&nbsp;Misa Miyake ,&nbsp;Michio Suzuki ,&nbsp;Satoru Kobayashi ,&nbsp;Hirokazu Kurahashi ,&nbsp;Yoshiaki Sato ,&nbsp;Akihisa Okumura ,&nbsp;Tetsushi Yoshikawa ,&nbsp;Shinji Saitoh ,&nbsp;Yoshiyuki Takahashi","doi":"10.1016/j.braindev.2025.104343","DOIUrl":"10.1016/j.braindev.2025.104343","url":null,"abstract":"<div><h3>Objective</h3><div>To clarify the difference in clinical-radiological features between neonatal-onset arterial ischemic stroke (AIS) and presumed neonatal AIS with a normal neonatal neurological history.</div></div><div><h3>Methods</h3><div>Twenty-one neonatal AIS patients and seven with presumed neonatal AIS were identified in Aichi Prefecture, Japan, between 2010 and 2014. MRI and clinical characteristics were determined.</div></div><div><h3>Results</h3><div>Nine patients (43 %) with neonatal AIS and only one patient (13 %) with presumed neonatal AIS underwent emergency cesarean sections (ECS). Pyramidal tract involvement was more common in patients with presumed neonatal AIS (71 %) than in those with neonatal AIS (24 %). The most common sequela, hemiplegia, was present in 33 % of patients with neonatal AIS and 71 % with presumed neonatal AIS.</div></div><div><h3>Conclusions</h3><div>The small number of ECS in presumed neonatal AIS suggests different causal factors from those of neonatal AIS. Given the different distributions of lesions and sequelae, there can be undiagnosed patients with presumed neonatal AIS and no sequelae.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 3","pages":"Article 104343"},"PeriodicalIF":1.4,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143637611","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}

{"title":"Recurrence of Tic disorders in children after medication withdrawal: A cohort study on long-term outcomes","authors":"Si Zhang,&nbsp;Yuxin Chai,&nbsp;Zilin Chen,&nbsp;Yuchen Hu,&nbsp;Ru Jia,&nbsp;Fei Han","doi":"10.1016/j.braindev.2025.104344","DOIUrl":"10.1016/j.braindev.2025.104344","url":null,"abstract":"<div><h3>Aim</h3><div>To evaluate the relapse rate in children with tic disorders following medication withdrawal and to identify the risk factors associated with tic recurrence.</div></div><div><h3>Methods</h3><div>This prospective cohort study enrolled 387 children who had recently discontinued medication and had been tic-free for at least 3 months. Participants were followed monthly for 12 months to monitor tic relapse. The primary outcome was the time from medication discontinuation to tic recurrence, while the secondary outcome was the characteristics of the recurrence. Cox regression models were used to identify prognostic factors associated with relapse.</div></div><div><h3>Results</h3><div>During the 12-month follow-up, 235 participants (61 %) experienced tic relapse. Among these, 120 participants (51 %) had a recurrence of their original tic symptoms, 75 (32 %) developed new symptoms alongside their original tics, and 39 (17 %) presented with entirely new tic symptoms. Significant prognostic factors for tic recurrence included treatment duration, Yale Global Tic Severity Scale score at the worst-ever phase, average daily screen time, negative emotional stimuli, and snack consumption.</div></div><div><h3>Conclusion</h3><div>Tic recurrence following medication discontinuation is common in children with tic disorders and is associated with several modifiable prognostic factors. Clinicians should address these predictors to develop more effective prevention strategies and reduce tic recurrence.</div></div>","PeriodicalId":56137,"journal":{"name":"Brain & Development","volume":"47 2","pages":"Article 104344"},"PeriodicalIF":1.4,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143549305","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}