Journal of Child Neurology最新文献

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Acquired Demyelinating Syndromes of the Central Nervous System in Children: The Importance of Regular Follow-up in the First Year After Onset. 儿童中枢神经系统获得性脱髓鞘综合征:发病后第一年定期随访的重要性。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-08-01 DOI: 10.1177/08830738231193495
Carlotta Canavese, Irene Favole, Rossella D'Alessandro, Fabiana Vercellino, Amanda Papa, Barbara Podestà, Francesca Longaretti, Francesca Brustia, Sara Rampone, Francesca Benedini, Mariachiara Giraudo, Aba Tocchet
{"title":"Acquired Demyelinating Syndromes of the Central Nervous System in Children: The Importance of Regular Follow-up in the First Year After Onset.","authors":"Carlotta Canavese,&nbsp;Irene Favole,&nbsp;Rossella D'Alessandro,&nbsp;Fabiana Vercellino,&nbsp;Amanda Papa,&nbsp;Barbara Podestà,&nbsp;Francesca Longaretti,&nbsp;Francesca Brustia,&nbsp;Sara Rampone,&nbsp;Francesca Benedini,&nbsp;Mariachiara Giraudo,&nbsp;Aba Tocchet","doi":"10.1177/08830738231193495","DOIUrl":"https://doi.org/10.1177/08830738231193495","url":null,"abstract":"<p><strong>Aim: </strong>We reviewed the clinical features of a sample of pediatric acquired demyelinating syndromes with the purpose of determining the appropriate protocol for follow-up after the first episode.</p><p><strong>Methods: </strong>A multicenter retrospective observational study was conducted on a cohort of 40 children diagnosed with a first episode of acquired demyelinating syndrome over the period 2012-2021. Patients were evaluated with clinical and neuroradiologic assessment after 3, 6, and 12 months, with a median follow-up of 4.0 years.</p><p><strong>Results: </strong>At the first acquired demyelinating syndrome episode, 18 patients (45%) were diagnosed with acute disseminated encephalomyelitis, 18 (45%) with clinical isolated syndrome, and 4 (10%) with multiple sclerosis. By month 12, 12 patients (30%) had progressed from an initial diagnosis of acute disseminated encephalomyelitis (2) or clinical isolated syndrome (10) to multiple sclerosis. Of these, 6 had clinical relapse and 6 radiologic relapse only. The first relapse occurred after a median of 3 months. Among the patients who had evolved toward multiple sclerosis, there was a prevalence of females (<i>P</i> = .014), higher oligoclonal bands positivity (<i>P</i> = .009), and older median age (<i>P</i> < .001) as compared with those who had remained stable.</p><p><strong>Interpretation: </strong>Both clinical and radiologic follow-up of children with acquired demyelinating syndromes is crucial, especially during the first year after acute onset, for early identification of multiple sclerosis and prompt initiation of disease-modifying treatment to delay axonal damage and to limit disability.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10565644","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
Outcome of Absence Epilepsy With Onset at 8-11 Years of Age: Watershed Ages When Syndromes Overlap. 8-11岁癫痫发作的结局:综合征重叠的分水岭年龄。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-08-01 DOI: 10.1177/08830738231188397
Anita N Datta, Jacqueline Crawford, Laura Wallbank, Peter K H Wong
{"title":"Outcome of Absence Epilepsy With Onset at 8-11 Years of Age: Watershed Ages When Syndromes Overlap.","authors":"Anita N Datta,&nbsp;Jacqueline Crawford,&nbsp;Laura Wallbank,&nbsp;Peter K H Wong","doi":"10.1177/08830738231188397","DOIUrl":"https://doi.org/10.1177/08830738231188397","url":null,"abstract":"<p><p><b>Introduction:</b> Absence seizures occur in various epilepsy syndromes, including childhood and juvenile absence epilepsy and juvenile myoclonic epilepsy. When children present with absence seizures at ages when syndromes overlap, initial syndrome designation is not always possible, making early prognostication challenging. For these children, the study objective is to determine clinical and initial electroencephalograph (EEG) findings to predict the development of generalized tonic-clonic seizures, which is a factor that affects outcome. <b>Methods:</b> Children with new-onset absence seizures between 8 and 11 years of age with at least 5 years of follow-up data were studied through the review of medical records and initial EEG tracings. <b>Results:</b> Ninety-eight patients were included in the study. The median age of absence seizure onset was 9 years (interquartile range [IQR] = 8.00, 10.00) and follow-up was 15 years (IQR = 13.00, 18.00). Forty-six percent developed generalized tonic-clonic seizures and 20% developed myoclonic seizures. On multiple regression analysis, a history of myoclonic seizures, anxiety, as well as bifrontal slowing and mild background slowing on initial EEG (<i>P</i> < .05) were associated with generalized tonic-clonic seizures. Although not statistically significant, a shorter duration of shortest EEG burst on baseline EEG was also associated with generalized tonic-clonic seizures. <b>Conclusion:</b> On initial EEG, bifrontal and background slowing and myoclonic seizures and anxiety are associated with developing generalized tonic-clonic seizures, which is of prognostic significance when early syndrome designation is difficult.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/89/29/10.1177_08830738231188397.PMC10493039.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10198612","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
Autism Spectrum Disorder in Children With Perinatal Ischemic Stroke Varies by Stroke Type. 围产儿缺血性卒中儿童的自闭症谱系障碍因卒中类型而异。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-08-01 DOI: 10.1177/08830738231188395
Clara M Wu, Bo Zhang, Cameron C Trenor, Michael J Rivkin, Amy Danehy, Laura L Lehman
{"title":"Autism Spectrum Disorder in Children With Perinatal Ischemic Stroke Varies by Stroke Type.","authors":"Clara M Wu,&nbsp;Bo Zhang,&nbsp;Cameron C Trenor,&nbsp;Michael J Rivkin,&nbsp;Amy Danehy,&nbsp;Laura L Lehman","doi":"10.1177/08830738231188395","DOIUrl":"https://doi.org/10.1177/08830738231188395","url":null,"abstract":"<p><p><b>Background and Objectives:</b> Perinatal stroke leads to significant morbidity over a child's lifetime, including diagnosis of various neurodevelopmental disorders. Specific studies examining the prevalence of autism spectrum disorder in children with perinatal stroke are scarce. Following the clinical observation of autism spectrum disorder in a pediatric referral stroke center, we evaluated the rate of autism spectrum disorder diagnosis after perinatal ischemic stroke, including analysis by subtypes of perinatal ischemic stroke. <b>Methods:</b> We retrospectively examined all children diagnosed with perinatal ischemic stroke, who were ≥18 months old at the time of last follow-up at a single institution from 2008 through 2021. We classified patients as having autism spectrum disorder if they were diagnosed by a neurologist, neuropsychologist, clinical psychologist, or developmental pediatrician. Multivariable logistic regression was performed to examine the association between ischemic stroke subtype and autism spectrum disorder. <b>Results:</b> Among 260 children with perinatal stroke, 19 children (7.3%) also had autism spectrum disorder. Children with perinatal venous stroke had 3-fold higher odds of autism spectrum disorder compared to those with perinatal arterial ischemic stroke (adjusted odds ratio: 3.01, 95% confidence interval: 1.07-8.47). <b>Conclusion:</b> In our perinatal ischemic stroke population, children with venous stroke had higher odds of autism spectrum disorder compared to those with arterial ischemic stroke alone. Prospective studies are needed to further investigate the role of perinatal stroke in autism spectrum disorder development.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10546167","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
Proceedings of the 45th Annual Meeting of the Southern Pediatric Neurology Society March 26, 2022, New Orleans, LA. 第45届南方儿科神经学会年会论文集,2022年3月26日,新奥尔良,洛杉矶。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-08-01 DOI: 10.1177/08830738231171883
{"title":"Proceedings of the 45th Annual Meeting of the Southern Pediatric Neurology Society March 26, 2022, New Orleans, LA.","authors":"","doi":"10.1177/08830738231171883","DOIUrl":"https://doi.org/10.1177/08830738231171883","url":null,"abstract":"Objective: This study aimed to assess patient experience with telemedicine in pediatric neurology and feasibility for increasing the number of telemedicine visits in Ochsner Louisiana State University Shreveport. Methods: Data from patient surveys were collected from 40 consecutive telemedicine visits after face-to-face meetings conducted over a secured conferencing service. Data collected included demographic details about age of the caregiver on the call, employment details, ease of use of the platform, duration of the visit, satisfaction with the visit, comfortabil-ity with the visit, prior experience with telehealth, and use of online shopping/banking. Results: Descriptive analysis was performed on the collected information, which revealed 85% of respondents were female, those aged <40 years comprised 48% and those aged ≥ 41 years were 52%, 62.5% reported prior use of telehealth within the past 3 months, and 92.5% were satis fi ed with patient education. Overall patient satisfaction (scale of 1-5, with 1 being the best and 5 as the worst) was 1.33 (SD 0.8), ease of access 1.35 (SD 0.86), and likelihood to request another virtual visit 1.70 (SD 0.9). Of the collected variables, age and comfort using mobile technology were statistically signi fi cant, with older age being negatively correlated with patient comfort using mobile technology ( P = .02). However, no statistically signi fi cant difference was noted when comparing age to patient satisfaction with virtual visits, ease of access, nor likelihood of requesting another virtual visit, indicating that patients can adapt to the telemedicine irrespective of age and usage of mobile technology. Conclusion: Overall patient satisfaction was high regardless of age, gender, and ethnicity, and use of mobile technology, suggesting that an expansion of telehealth services can improve patient accessibility and desire to use it beyond the current COVID-19 pandemic.","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10194068","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: 1
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome. Aicardi-Goutières综合征毛运动功能的探讨。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-08-01 Epub Date: 2023-07-27 DOI: 10.1177/08830738231188753
Francesco Gavazzi, Allan M Glanzman, Sarah Woidill, Brielle Formanowski, Agrani Dixit, David Isaacs, Tracy Kornafel, Elizabeth Ballance, Samuel R Pierce, Nicholson Modesti, Isabella Barcelos, Stacy V Cusack, Amanda K Jan, Zaida Flores, Omar Sherbini, Ariel Vincent, Russell D'Aiello, Scott A Lorch, Sara B DeMauro, Abbas Jawad, Adeline Vanderver, Laura Adang
{"title":"Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.","authors":"Francesco Gavazzi,&nbsp;Allan M Glanzman,&nbsp;Sarah Woidill,&nbsp;Brielle Formanowski,&nbsp;Agrani Dixit,&nbsp;David Isaacs,&nbsp;Tracy Kornafel,&nbsp;Elizabeth Ballance,&nbsp;Samuel R Pierce,&nbsp;Nicholson Modesti,&nbsp;Isabella Barcelos,&nbsp;Stacy V Cusack,&nbsp;Amanda K Jan,&nbsp;Zaida Flores,&nbsp;Omar Sherbini,&nbsp;Ariel Vincent,&nbsp;Russell D'Aiello,&nbsp;Scott A Lorch,&nbsp;Sara B DeMauro,&nbsp;Abbas Jawad,&nbsp;Adeline Vanderver,&nbsp;Laura Adang","doi":"10.1177/08830738231188753","DOIUrl":"10.1177/08830738231188753","url":null,"abstract":"<p><p><b>Background:</b> Aicardi-Goutières syndrome (AGS) is a rare genetic disorder characterized by a spectrum of motor abilities. While the Aicardi-Goutières syndrome severity score favors severely impacted individuals, there is an unmet need to define tools measuring function across the Aicardi-Goutières syndrome spectrum as potential outcome assessments for future clinical trials. <b>Methods:</b> Gross Motor Function Measure-88 (GMFM-88) and AGS Severity Scale were administered in individuals affected by Aicardi-Goutières syndrome (n = 71). We characterized the performance variability by genotype. Derived versions of the GMFM-88, including the GMFM-66, GMFM-66 item set (GMFM-66IS), and GMFM-66 Basal&Ceiling (GMFM-66BC) were calculated. The Aicardi-Goutières syndrome cohort was divided into severe (AGS Severity Scale score <4) or attenuated (≥4). Performance on the AGS Severity Scale highly correlated with total GMFM-88 scores (Spearman Correlation: R = 0.91). To assess variability of the GMFM-88 within genotypic subcohorts, interquartile ranges (IQRs) were compared. <b>Results</b><b>:</b> GMFM-88 performance in the <i>TREX1</i> cohort had least variability while the <i>SAMHD1</i> cohort had the largest IQR (4.23 vs 81.8). Floor effect was prominent, with most evaluations scoring below 20% (n = 46, 64.79%), particularly in <i>TREX1</i>- and <i>RNASEH2-</i>cohorts. Performance by the GMFM-66, GMFM-66IS, and GMFM-66BC highly correlated with the full GMFM-88. The Aicardi-Goutières syndrome population represents a broad range of gross motor skills. <b>Conclusions:</b> This work identified the GMFM-88 as a potential clinical outcome assessment in subsets of the Aicardi-Goutières syndrome population but underscores the need for additional validation of outcome measures reflective of the diverse gross motor function observed in this population, including low motor function. When time is limited by resources or patient endurance, shorter versions of the GMFM-88 may be a reasonable alternative.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530058/pdf/nihms-1914738.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10546614","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
Gross Motor Function in Pediatric Onset TUBB4A-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A. 儿童发病性TUBB4A相关白细胞营养不良的毛运动功能:GMFM-88在TUBB4A中的表现和GMFC-MLD的验证。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-08-01 Epub Date: 2023-07-17 DOI: 10.1177/08830738231188159
Francesco Gavazzi, Virali Patel, Brittany Charsar, Allan Glanzman, Jacqueline Erler, Anjana Sevagamoorthy, Emma McKenzie, Tracy Kornafel, Elizabeth Ballance, Samuel R Pierce, Michelle Teng, Brielle Formanowski, Sarah Woidill, Justine Shults, Evangeline Wassmer, Davide Tonduti, Francesca Magrinelli, Geneviève Bernard, Marjo Van Der Knaap, Nicole Wolf, Laura Adang, Adeline Vanderver
{"title":"Gross Motor Function in Pediatric Onset <i>TUBB4A</i>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <i>TUBB4A</i>.","authors":"Francesco Gavazzi,&nbsp;Virali Patel,&nbsp;Brittany Charsar,&nbsp;Allan Glanzman,&nbsp;Jacqueline Erler,&nbsp;Anjana Sevagamoorthy,&nbsp;Emma McKenzie,&nbsp;Tracy Kornafel,&nbsp;Elizabeth Ballance,&nbsp;Samuel R Pierce,&nbsp;Michelle Teng,&nbsp;Brielle Formanowski,&nbsp;Sarah Woidill,&nbsp;Justine Shults,&nbsp;Evangeline Wassmer,&nbsp;Davide Tonduti,&nbsp;Francesca Magrinelli,&nbsp;Geneviève Bernard,&nbsp;Marjo Van Der Knaap,&nbsp;Nicole Wolf,&nbsp;Laura Adang,&nbsp;Adeline Vanderver","doi":"10.1177/08830738231188159","DOIUrl":"10.1177/08830738231188159","url":null,"abstract":"<p><p><i>TUBB4A</i> pathogenic variants are associated with a spectrum of neurologic impairments including movement disorders and leukodystrophy. With the development of targeted therapies, there is an urgent unmet need for validated tools to measure mobility impairment. Our aim is to explore gross motor function in a pediatric-onset <i>TUBB4A</i>-related leukodystrophy cohort with existing gross motor outcome tools. Gross Motor Function Measure-88 (GMFM-88), Gross Motor Function Classification System (GMFCS-ER), and Gross Motor Function Classification-Metachromatic Leukodystrophy (GMFC-MLD) were selected through face validity. Subjects with a confirmed clinical and molecular diagnosis of <i>TUBB4A</i>-related leukodystrophy were enrolled. Participants' sex, age, genotype, and age at disease onset were collected, together with GMFM-88 and concurrent GMFCS-ER and GMFC-MLD. Performances on each measure were compared. GMFM-88 floor effect was defined as total score below 20%. A total of 35 subjects participated. Median performance by GMFM-88 was 16.24% (range 0-97.31), with 42.9% (n = 15) of individuals performing above the floor. GMFM-88 Dimension A (Lying and Rolling) was the best-performing dimension in the GMFM-88 (n = 29 above the floor). All levels of the Classification Scales were represented, with the exception of the GMFC-MLD level 0. Evaluation by GMFM-88 was strongly correlated with the Classification Scales (Spearman correlations: GMFCS-ER:GMFM-88 <i>r</i> = 0.90; GMFC-MLD:GMFM-88 <i>r</i> = 0.88; GMFCS-ER:GMFC-MLD: <i>r</i> = 0.92). Despite overall observation of a floor effect, the GMFM-88 is able to accurately capture the performance of individuals with attenuated phenotypes. GMFM-88 Dimension A shows no floor effect. GMFC-MLD shows a strong correlation with GMFCS-ER and GMFM-88, supporting its use as an age-independent functional score in <i>TUBB4A</i>-related leukodystrophy.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10527384/pdf/nihms-1914118.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10193846","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 Features and a Prediction Nomogram for Prognosis in Children with Escherichia coli Meningitis. 儿童大肠杆菌脑膜炎的临床特征及预后预测图。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-08-01 DOI: 10.1177/08830738231193217
Lingyu Zhang, Wenjie Li, Xiaoling Peng, Li Jiang, Yue Hu
{"title":"Clinical Features and a Prediction Nomogram for Prognosis in Children with <i>Escherichia coli</i> Meningitis.","authors":"Lingyu Zhang,&nbsp;Wenjie Li,&nbsp;Xiaoling Peng,&nbsp;Li Jiang,&nbsp;Yue Hu","doi":"10.1177/08830738231193217","DOIUrl":"https://doi.org/10.1177/08830738231193217","url":null,"abstract":"<p><strong>Background: </strong>We aimed to build a prediction nomogram for early prediction of poor prognosis in children with <i>Escherichia coli</i> meningitis and analyzed the course of treatment and discharge criteria.</p><p><strong>Methods: </strong>Eighty-seven pediatric patients with <i>E coli</i> meningitis were retrospectively recruited from the Children's Hospital of Chongqing Medical University between June 2012 and November 2021. Univariate analysis and binary logistic analysis were used to evaluate the risk factors, and the prediction model was built.</p><p><strong>Results: </strong><i>E coli</i> meningitis is more common in children <3 months old in our study (86.2%). Common complications were subdural effusion (39.1%), followed by hydrocephalus (13.8%) and repeated convulsions (12.6%). The mortality rate and sequelae rate of <i>E coli</i> meningitis in children was ∼10.9% and ∼6.3%, respectively. Univariate analysis showed that 13 clinical indicators were associated with poor prognosis of <i>E coli</i> meningitis in children. In binary logistic analysis, risk factors were seizures (<i>P</i> = .032) and the last cerebrospinal fluid glucose content before discharge (<i>P</i> = .002). A graphical nomogram was designed. The area under the receiver operating characteristic curve was 0.913. The Hosmer-Lemeshow test showed that the model was a good fit (<i>P</i> = .648). Internal validation proved the reliability of the prediction nomogram.</p><p><strong>Conclusions: </strong><i>E coli</i> meningitis is more common in children <3 months old in our study. The rate of complications and sequelae are high. The prediction nomogram could be used to assess the risk of poor prognosis in children with <i>E coli</i> meningitis by clinicians.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10547138","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
Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders. 遗传性神经发育障碍的脑电图(EEG)生物标志物。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-05-01 Epub Date: 2023-06-01 DOI: 10.1177/08830738231177386
Kimberly Goodspeed, Dallas Armstrong, Alison Dolce, Patricia Evans, Rana Said, Peter Tsai, Deepa Sirsi
{"title":"Electroencephalographic (EEG) Biomarkers in Genetic Neurodevelopmental Disorders.","authors":"Kimberly Goodspeed, Dallas Armstrong, Alison Dolce, Patricia Evans, Rana Said, Peter Tsai, Deepa Sirsi","doi":"10.1177/08830738231177386","DOIUrl":"10.1177/08830738231177386","url":null,"abstract":"<p><p>Collectively, neurodevelopmental disorders are highly prevalent, but more than a third of neurodevelopmental disorders have an identifiable genetic etiology, each of which is individually rare. The genes associated with neurodevelopmental disorders are often involved in early brain development, neuronal signaling, or synaptic plasticity. Novel treatments for many genetic neurodevelopmental disorders are being developed, but disease-relevant clinical outcome assessments and biomarkers are limited. Electroencephalography (EEG) is a promising noninvasive potential biomarker of brain function. It has been used extensively in epileptic disorders, but its application in neurodevelopmental disorders needs further investigation. In this review, we explore the use of EEG in 3 of the most prevalent genetic neurodevelopmental disorders-Angelman syndrome, Rett syndrome, and fragile X syndrome. Quantitative analyses of EEGs, such as power spectral analysis or measures of connectivity, can quantify EEG signatures seen on qualitative review and potentially correlate with phenotypes. In both Angelman syndrome and Rett syndrome, increased delta power on spectral analysis has correlated with clinical markers of disease severity including developmental disability and seizure burden, whereas spectral power analysis on EEG in fragile X syndrome tends to demonstrate abnormalities in gamma power. Further studies are needed to establish reliable relationships between quantitative EEG biomarkers and clinical phenotypes in rare genetic neurodevelopmental disorders.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10644693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10120039","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
Language and Cognitive Outcomes Following Ischemic Stroke in Children With Monolingual and Bilingual Exposure. 单语和双语暴露儿童缺血性卒中后的语言和认知结局。
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-05-01 DOI: 10.1177/08830738231171466
Kai Ian Leung, Nomazulu Dlamini, Robyn Westmacott, Monika Molnar
{"title":"Language and Cognitive Outcomes Following Ischemic Stroke in Children With Monolingual and Bilingual Exposure.","authors":"Kai Ian Leung,&nbsp;Nomazulu Dlamini,&nbsp;Robyn Westmacott,&nbsp;Monika Molnar","doi":"10.1177/08830738231171466","DOIUrl":"https://doi.org/10.1177/08830738231171466","url":null,"abstract":"<p><p><b>Aim:</b> Although many children who experience ischemic stroke come from bilingual backgrounds, it is unclear whether bilingual exposure affects poststroke development. Our research evaluates bilingual and monolingual exposure on linguistic/cognitive development poststroke across 3 stroke-onset groups. <b>Method:</b> An institutional stroke registry and medical charts were used to gather data on 237 children across 3 stroke-onset groups: neonatal, <28 days; first-year, 28 days to 12 months; and childhood, 13 months to 18 years. The Pediatric Stroke Outcome Measure (PSOM), administered several times poststroke, was used to evaluate cognition and linguistic development. <b>Results:</b> Similar cognitive outcomes were observed across language groups. However, an interaction effect with stroke-onset group was observed, with monolinguals in the first-year group having worse productive language outcomes as compared to bilinguals. <b>Interpretation:</b> Overall, no detrimental effects of bilingualism were found on children's poststroke cognition and linguistic development. Our study suggests that a bilingual environment may facilitate language development in children poststroke.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bc/c3/10.1177_08830738231171466.PMC10467015.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10125143","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: 1
The Spectrum of Pediatric Infection-Associated Intracranial Arteriopathies and Acute Ischemic Stroke at 2 Eastern Indian Tertiary Care Centres. 2个东印度三级保健中心的儿童感染相关颅内动脉病变和急性缺血性中风的频谱
IF 1.9 4区 医学
Journal of Child Neurology Pub Date : 2023-05-01 DOI: 10.1177/08830738231171800
Suman Das, Biman Kanti Ray, Lopamudra Mishra, Kaushani Chatterjee, Gobinda Mondal, Dilip Kumar Paul
{"title":"The Spectrum of Pediatric Infection-Associated Intracranial Arteriopathies and Acute Ischemic Stroke at 2 Eastern Indian Tertiary Care Centres.","authors":"Suman Das,&nbsp;Biman Kanti Ray,&nbsp;Lopamudra Mishra,&nbsp;Kaushani Chatterjee,&nbsp;Gobinda Mondal,&nbsp;Dilip Kumar Paul","doi":"10.1177/08830738231171800","DOIUrl":"https://doi.org/10.1177/08830738231171800","url":null,"abstract":"<p><strong>Introduction: </strong>Major and minor pediatric infections may cause intracranial arteriopathies, the long-term outcome of which we investigated and identified the factors influencing the progression/resolution of arteriopathies.</p><p><strong>Methods: </strong>We collected the clinical and radiological data of children aged 1 month-15 years who had ischemic stroke with definite arteriopathy following a recent febrile infection. Repeated neuroimaging was done over the next year to ascertain recurrent strokes and the progression and resolution of arteriopathies.</p><p><strong>Results: </strong>The anterior circulation was more frequently affected (83.33%), predominantly involving the middle cerebral artery (41.67%), resolving in 20.84% of cases and progressing in 33.33% of cases. Lesions were commonly unilateral (54.17%) and stenotic (75%), resulting predominantly in cortical infarcts (45.83%), with hemiparesis being the most common neurodeficiency. Apart from tubercular meningitis patients, others had a good functional outcome.</p><p><strong>Conclusion: </strong>Lower age, minor infections, and unilateral arteriopathies had a significantly higher chance of resolution. Postviral arteriopathies had a significantly lower chance of progression compared with those following bacterial infections. Progressive and bilateral arteriopathies were significantly associated with worse outcomes and recurrent strokes.</p>","PeriodicalId":15319,"journal":{"name":"Journal of Child Neurology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10119552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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