Pediatric neurology最新文献

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Early Biomarkers in the Prediction of Later Functional Impairment in Preterm Children With Cerebral Palsy 预测早产脑瘫儿童日后功能障碍的早期生物标志物
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-23 DOI: 10.1016/j.pediatrneurol.2024.08.013
Gabrielle Lambert MD , Nafisa Husein MSc , Darcy Fehlings MD, MSc , John Andersen MD , Maryam Oskoui MD, MSc , Michael Shevell MDCM , Canadian Cerebral Palsy Registry
{"title":"Early Biomarkers in the Prediction of Later Functional Impairment in Preterm Children With Cerebral Palsy","authors":"Gabrielle Lambert MD ,&nbsp;Nafisa Husein MSc ,&nbsp;Darcy Fehlings MD, MSc ,&nbsp;John Andersen MD ,&nbsp;Maryam Oskoui MD, MSc ,&nbsp;Michael Shevell MDCM ,&nbsp;Canadian Cerebral Palsy Registry","doi":"10.1016/j.pediatrneurol.2024.08.013","DOIUrl":"10.1016/j.pediatrneurol.2024.08.013","url":null,"abstract":"<div><h3>Background</h3><p>To identify early biomarkers that could predict later functional capabilities in preterm children with later cerebral palsy (CP).</p></div><div><h3>Methods</h3><p>Data from 968 preterm children with later CP were extracted from the Canadian Cerebral Palsy Registry. One hundred eighty-two infants were born before 27 weeks of gestation, 461 infants were born between 27 and 33 weeks, and 325 infants were born between 34 and 37 weeks. Univariate and chi-square analyses were conducted to measure the association between early objective biomarkers and later mobility status defined as Gross Motor Function Classification System (GMFCS) levels IV and V as well as tube feeding dependence.</p></div><div><h3>Results</h3><p>Univariate analysis suggested no significant association between GMFCS levels IV and V or impaired feeding status and bilateral white matter injury on magnetic resonance imaging, high-grade intraventricular hemorrhage on head ultrasound, chorioamnionitis, a birth weight of 1000 to 1500 g or &lt;1000 g, as well as an Apgar score of ≤5 at five minutes of life. Similar results were found for gestational age &lt;28 weeks at birth. Only a significant association between GMFCS levels IV and V and a cord or first hour of life pH of ≤7 was reported (mobility status: odds ratio [OR] 1.95, 95% confidence interval [CI] 1.09 to 3.57) and feeding status: OR 2.23, CI 0.97 to 4.65)].</p></div><div><h3>Conclusions</h3><p>Prediction of functional outcomes based on specific early biomarkers appears hard to obtain in children with CP born preterm in contrast to those born at term. The complications and causal pathways inherent to prematurity may contribute to making prognostication less determinant.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 55-60"},"PeriodicalIF":3.2,"publicationDate":"2024-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142228736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
A Complex Presentation of Vestibular Paroxysmia in an Adolescent With Wolff- Parkinson-White Syndrome 患有沃尔夫-帕金森-怀特综合征的青少年前庭阵痛的复杂表现。
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-22 DOI: 10.1016/j.pediatrneurol.2024.08.010
Manuel Nunez MD , Michal T. Ruprecht BS , Alex S. Aguirre MD , Alcy Torres MD
{"title":"A Complex Presentation of Vestibular Paroxysmia in an Adolescent With Wolff- Parkinson-White Syndrome","authors":"Manuel Nunez MD ,&nbsp;Michal T. Ruprecht BS ,&nbsp;Alex S. Aguirre MD ,&nbsp;Alcy Torres MD","doi":"10.1016/j.pediatrneurol.2024.08.010","DOIUrl":"10.1016/j.pediatrneurol.2024.08.010","url":null,"abstract":"<div><p>Vestibular paroxysmia is an episodic vestibular disorder resulting from compression or irritation of the eighth cranial nerve. This disorder is a rare and difficult diagnosis in children. We report the case of a 16-year-old adolescent male with a history of syncope and coronavirus disease 2019 infection four months prior who presented with intermittent episodes of <em>vertigo</em> and unsteadiness several times a week. These events started abruptly, and he appeared frozen. However, he remained conscious and was able to answer questions. He subsequently resumed normal activity in less than a minute without seizure stigmata or postictal period. His general and neurological examinations were unremarkable. Extensive diagnostic evaluation yielded negative results, except for an electrocardiogram consistent with Wolff-Parkinson-White syndrome. However, his symptoms persisted after cardiac ablation, suggesting they were not related to this arrhythmia. Following unsuccessful trials with various medications, his symptoms resolved with carbamazepine. Early recognition and appropriate treatment of this condition could substantially improve the quality of life for affected individuals.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 26-27"},"PeriodicalIF":3.2,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142146139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Adequacy of an In–Neonatal Intensive Care Unit 1T Magnetic Resonance Imaging Compared With 3T Magnetic Resonance Imaging for Clinical Management 新生儿重症监护室 1T 磁共振成像与 3T 磁共振成像在临床管理中的充分性比较
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-16 DOI: 10.1016/j.pediatrneurol.2024.08.004
Danielle Sharon BS , Elizabeth Singh MSN, CPNP, RN , Camilo Jaimes MD , Ellen Grant MD, MSc , Terrie Inder MBChB, MD , Mohamed El-Dib MD
{"title":"Adequacy of an In–Neonatal Intensive Care Unit 1T Magnetic Resonance Imaging Compared With 3T Magnetic Resonance Imaging for Clinical Management","authors":"Danielle Sharon BS ,&nbsp;Elizabeth Singh MSN, CPNP, RN ,&nbsp;Camilo Jaimes MD ,&nbsp;Ellen Grant MD, MSc ,&nbsp;Terrie Inder MBChB, MD ,&nbsp;Mohamed El-Dib MD","doi":"10.1016/j.pediatrneurol.2024.08.004","DOIUrl":"10.1016/j.pediatrneurol.2024.08.004","url":null,"abstract":"<div><h3>Background</h3><p>This retrospective study aims to assess the added diagnostic utility and clinical value of a 3-Tesla neonatal brain magnetic resonance imaging after obtaining a 1-Tesla magnetic resonance imaging within the neonatal intensive care unit.</p></div><div><h3>Methods</h3><p>A cohort of 34 infants had an initial 1-Tesla magnetic resonance imaging and repeat imaging within 14 days in a 3-Tesla scanner. All infants were admitted to the level III neonatal intensive care unit at Brigham and Women's Hospital, and all images were interpreted by pediatric neuroradiologists.</p></div><div><h3>Results</h3><p>For 31 infants (91%), the 3-Tesla magnetic resonance imaging showed similar or expected evolution of known findings found on 1 Tesla. For infants with change between the 1-Tesla and 3-Tesla imaging results, there was no clinical impact.</p></div><div><h3>Conclusion</h3><p>Images from 1-Tesla magnetic resonance imaging were sufficient for characterizing a wide range of neonatal brain injuries and abnormalities and repeated 3-Tesla magnetic resonance imaging did not yield further clinical benefit.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 34-39"},"PeriodicalIF":3.2,"publicationDate":"2024-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Exploring the Clinical Utility of Targeted MECP2 Testing in Real-World Practice 探索 MECP2 靶向测试在实际工作中的临床实用性
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-14 DOI: 10.1016/j.pediatrneurol.2024.08.001
Soo Yeon Kim MD, PhD , Hyewon Woo MD , Byung Chan Lim MD, PhD , Ki Joong Kim MD, PhD , Jong-Hee Chae MD, PhD
{"title":"Exploring the Clinical Utility of Targeted MECP2 Testing in Real-World Practice","authors":"Soo Yeon Kim MD, PhD ,&nbsp;Hyewon Woo MD ,&nbsp;Byung Chan Lim MD, PhD ,&nbsp;Ki Joong Kim MD, PhD ,&nbsp;Jong-Hee Chae MD, PhD","doi":"10.1016/j.pediatrneurol.2024.08.001","DOIUrl":"10.1016/j.pediatrneurol.2024.08.001","url":null,"abstract":"<div><h3>Background</h3><p>This study aimed to explore the clinical utility of targeted <em>MECP2</em> testing in a large cohort of females with neurodevelopmental delays. Our aim was to identify suitable candidates for testing based on prevailing diagnostic criteria.</p></div><div><h3>Methods</h3><p>Eligible participants with global developmental delay/arrest or regression before age 36 months underwent <em>MECP2</em> testing. <em>MECP2</em>-positive patients were further categorized based on Rett syndrome (RTT) diagnostic criteria, including typical, atypical, possible, and unclassified, to assess disease typicality and progression with respect to age.</p></div><div><h3>Results</h3><p>Of the 683 patients, 162 (23.7%) were diagnosed with <em>MECP2</em>-related RTT. Global developmental delay was the predominant initial symptom in approximately 75% of the cohort with developmental arrest/regression at testing. Symptoms emerged before age six months in 14 patients (8.6%). The average age at the time of <em>MECP2</em> testing was 3.7 years, with 31.5% of the patients tested under two years. Of those under two years, 15 were initially categorized into the unclassified group; however, 12 were later reclassified into the typical/atypical RTT groups based on follow-up evaluation. Among the 119 patients monitored beyond age five years, 80% displayed typical RTT symptoms, 10 remained unclassified, and 9.8% had exonic deletions, posing challenges for detection using next-generation sequencing.</p></div><div><h3>Conclusions</h3><p>Targeted <em>MECP2</em> testing has emerged as a clinically valuable tool with a high diagnostic yield, including the identification of small deletions. Given that younger patients may not always meet the classic RTT criteria, this study recommends targeted <em>MECP2</em> testing in younger patients without typical RTT features.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 28-33"},"PeriodicalIF":3.2,"publicationDate":"2024-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142162117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep 与发育性癫痫脑病相关的新型单基因异常病例系列,伴有睡眠中的棘波和波激活
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-12 DOI: 10.1016/j.pediatrneurol.2024.08.003
Andrew Silverman MD, MHS , Ann Hyslop MD , William Gallentine DO , Chethan Rao DO, MS
{"title":"A Case Series of Novel Monogenic Abnormalities Associated With Developmental Epileptic Encephalopathy With Spike-and-Wave Activation in Sleep","authors":"Andrew Silverman MD, MHS ,&nbsp;Ann Hyslop MD ,&nbsp;William Gallentine DO ,&nbsp;Chethan Rao DO, MS","doi":"10.1016/j.pediatrneurol.2024.08.003","DOIUrl":"10.1016/j.pediatrneurol.2024.08.003","url":null,"abstract":"<div><h3>Background</h3><p>Developmental and epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS) is a rare neurodevelopmental spectrum of disorders marked by regression associated with spike-and-wave activation in sleep.</p></div><div><h3>Methods</h3><p>As roughly 10% have a related genetic underpinning, we sought to describe narrative clinical histories of four patients at a single academic medical center with monogenic variants associated with DEE-SWAS. In sharing this case series, we aim to build on recent work investigating genetic DEE-SWAS.</p></div><div><h3>Results</h3><p>Findings from this case series not only aid in accurate diagnosis and prognosis for our patients but also may provide potential targets for future therapeutic interventions.</p></div><div><h3>Conclusions</h3><p>This natural history case series also highlights the difficulty in differentiating genetic phenotype from the effects of DEE-SWAS.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 18-23"},"PeriodicalIF":3.2,"publicationDate":"2024-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142129912","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis 肌营养不良症 1 型的智力特征及其与发病的关系:系统回顾与元分析
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-09 DOI: 10.1016/j.pediatrneurol.2024.08.002
Carlos Pascual-Morena PhD , Iván Cavero-Redondo PhD , Alicia Saz-Lara PhD , Irene Martínez-García MSc , María Eugenia Visier-Alfonso PhD , Vicente Martínez-Vizcaíno MD, PhD
{"title":"Intellectual Profile in Myotonic Dystrophy Type 1 and Its Association With Its Onset: A Systematic Review and Meta-Analysis","authors":"Carlos Pascual-Morena PhD ,&nbsp;Iván Cavero-Redondo PhD ,&nbsp;Alicia Saz-Lara PhD ,&nbsp;Irene Martínez-García MSc ,&nbsp;María Eugenia Visier-Alfonso PhD ,&nbsp;Vicente Martínez-Vizcaíno MD, PhD","doi":"10.1016/j.pediatrneurol.2024.08.002","DOIUrl":"10.1016/j.pediatrneurol.2024.08.002","url":null,"abstract":"<div><h3>Background</h3><p>Myotonic dystrophy type 1 (DM1) is caused by mutations in the <em>DMPK</em> gene, and it is associated with cognitive deficits and intelligence below normative values. The objective of this systematic review and meta-analysis was to estimate the overall intelligence and proportion of intellectual development disorder (IDD) in the population with DM1 and its association with its onset.</p></div><div><h3>Methods</h3><p>Systematic searches of Medline, Scopus, Web of Science, and Cochrane Library were performed from inception to January 2023. Studies that determined the full intelligence quotient (FIQ) or the IDD proportion in populations with DM1 were included. Meta-analyses of the FIQ and IDD and the FIQ mean difference and IDD prevalence ratios (PRs) by disease onset, inheritance, and genotype were conducted.</p></div><div><h3>Results</h3><p>Forty-five studies were included in the meta-analyses, and all were performed in the DM1 population. The FIQ and IDD in DM1 were 77.90 (71.98, 83.81) and 0.44 (0.27, 0.60), respectively. Furthermore, DM1 onset was negatively associated with intelligence. Thus, the comparison “Congenital versus Adult” onsets resulted in an intelligence quotient of −41.61 (−47.81, −35.40) points and a PR of IDD of 9.49 (3.23, 27.89). Finally, maternal inheritance was also negatively associated, but the genotype did not have a statistically significant association.</p></div><div><h3>Conclusions</h3><p>The alterations in intelligence in DM1 are highly associated with the onset of the disease. However, the genotype did not explain these alterations well and there may be other genetic or epigenetic factors that should be considered.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 9-17"},"PeriodicalIF":3.2,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142129910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Editorial Board and Masthead 编辑委员会和刊头
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-07 DOI: 10.1016/S0887-8994(24)00266-2
{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(24)00266-2","DOIUrl":"10.1016/S0887-8994(24)00266-2","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages A1-A2"},"PeriodicalIF":3.2,"publicationDate":"2024-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141962834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
An Evaluation of an Australian Pediatric Neuromuscular Transition Model 澳大利亚儿科神经肌肉过渡模型评估
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-05 DOI: 10.1016/j.pediatrneurol.2024.07.020
Rebecca Leung BSci (Hons), PhD, MBBS, Kate Munro, Anita Cairns MBBS
{"title":"An Evaluation of an Australian Pediatric Neuromuscular Transition Model","authors":"Rebecca Leung BSci (Hons), PhD, MBBS,&nbsp;Kate Munro,&nbsp;Anita Cairns MBBS","doi":"10.1016/j.pediatrneurol.2024.07.020","DOIUrl":"10.1016/j.pediatrneurol.2024.07.020","url":null,"abstract":"<div><h3>Background</h3><p>After receiving a diagnosis of a neuromuscular condition, patients have to make their way through a convoluted network of community and state resources as health care shifts from being family and child centered to adult focused. This study examined the barriers to successful transition from patient and clinician perspectives.</p></div><div><h3>Methods</h3><p>Adolescents with a primary diagnosis of a neuromuscular condition who were aged 16 years and over in Queensland, Australia, and who had started the transition process were eligible. Surveys were collected over six months and statistics used to characterize survey responses.</p></div><div><h3>Results</h3><p>There was a high degree of anxiety reported about the transition, with almost 50% of patients and families surveyed reporting concerns about moving across to the adult hospital system. The main barriers to effective transition identified by clinicians were limited time (84%), clinic space (58%), and a lack of an identified transition coordinator (79%).</p></div><div><h3>Conclusions</h3><p>This study has provided a checklist to assist patients with neuromuscular disorders in transitioning from pediatric to adult care. A new model has been developed to enable a slow, personalized transition that is led by a multidisciplinary team.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"160 ","pages":"Pages 60-69"},"PeriodicalIF":3.2,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142076740","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study 脑瘫的遗传之谜:单中心研究的结果
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-05 DOI: 10.1016/j.pediatrneurol.2024.07.019
Liene Thys MD , Diane Beysen MD, PhD , Berten Ceulemans MD, PhD , Sandra Kenis MD , Charlotte Dielman MD , Filip Roelens MD , Edwin Reyniers MSc , Ligia Mateiu PhD , Katrien Janssens PhD , Marije Meuwissen MD, PhD
{"title":"The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study","authors":"Liene Thys MD ,&nbsp;Diane Beysen MD, PhD ,&nbsp;Berten Ceulemans MD, PhD ,&nbsp;Sandra Kenis MD ,&nbsp;Charlotte Dielman MD ,&nbsp;Filip Roelens MD ,&nbsp;Edwin Reyniers MSc ,&nbsp;Ligia Mateiu PhD ,&nbsp;Katrien Janssens PhD ,&nbsp;Marije Meuwissen MD, PhD","doi":"10.1016/j.pediatrneurol.2024.07.019","DOIUrl":"10.1016/j.pediatrneurol.2024.07.019","url":null,"abstract":"<div><h3>Background</h3><p>Cerebral palsy (CP) is the most frequent cause of motor impairment in children. Although perinatal asphyxia was long considered to be the leading cause of CP, recent studies demonstrate its causation in only around one in 10 individuals with CP. Instead, genetic causes are increasingly demonstrated. We systematically performed clinical phenotyping and genetic investigations in a monocentric CP cohort, aiming to gain insight into the contribution of genetic variants in CP and its different subtypes.</p></div><div><h3>Methods</h3><p>Chromosomal microarray and/or trio exome sequencing were systematically performed in 337 individuals with CP between September 2017 and August 2022. Deep phenotyping was performed through clinical multidisciplinary evaluation and review of medical files.</p></div><div><h3>Results</h3><p>Genetic analyses resulted in an overall diagnostic yield of 38.3% (129 of 337). In cases with one or more comorbidities (intellectual disability, epilepsy, autism spectrum disorder), the yield increased to almost 50%. Functional enrichment analysis showed over-representation of the following pathways: genetic imprinting, DNA modification, liposaccharide metabolic process, neuron projection guidance, and axon development.</p></div><div><h3>Conclusions</h3><p>Genetic analyses in our CP cohort, the largest monocentric study to date, demonstrated a diagnostic yield of 38.3%, highlighting the importance of genetic testing in CP. The diagnosis of a genetic disorder is essential for prognosis and clinical follow-up, as well as for family counseling. Pathway analysis points to dysregulation of general developmental and metabolic processes as well as neuronal development and function. Unraveling the role of these pathways in CP pathogenesis is instrumental for the identification of CP candidate genes as well as potential therapeutic targets.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 1-8"},"PeriodicalIF":3.2,"publicationDate":"2024-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142096216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Identification of Putative Biomarkers in Cerebral Palsy: A Meta-Analysis and Meta-Regression 鉴定脑瘫的假定生物标志物:元分析和元回归
IF 3.2 3区 医学
Pediatric neurology Pub Date : 2024-08-02 DOI: 10.1016/j.pediatrneurol.2024.07.016
Vinay Suresh MBBS , Shiva Gupta MBBS , Yashita Khulbe MBBS , Muhammad Aaqib Shamim MD, PhD , Vaibhav Jain MBBS , Malavika Jayan MBBS , Madeeha Subhan Waleed MBBS , Neha Joe MBBS , Vivek Sanker MBBS , Aravind P. Gandhi MD , Areesha Alam MD (Pediatrics) , Hardeep Singh Malhotra MD, DM , Ravindra K. Garg MD, DM , Sheffali Gulati MD, DM , Priyanka Roy MD, MPH, PhD , Mainak Bardhan MD
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