Pediatric neurology最新文献

{"title":"Potential Role of Sleep Disturbance in the Development of Early Puberty: Past Clinical Evidence for Future Management","authors":"Dolrutai Puttawong MD ,&nbsp;Karn Wejaphikul MD, PhD ,&nbsp;Chanisa Thonusin MD, PhD ,&nbsp;Prapai Dejkhamron MD ,&nbsp;Nipon Chattipakorn MD, PhD ,&nbsp;Siriporn C. Chattipakorn DDS, PhD","doi":"10.1016/j.pediatrneurol.2024.09.010","DOIUrl":"10.1016/j.pediatrneurol.2024.09.010","url":null,"abstract":"<div><div>The incidence of early puberty in children has been increasing. It has been suspected that both genetic and various environmental factors such as nutrition and hormonal exposure could influence the mechanisms underlying the earlier onset of puberty. Interestingly, several previous studies have reported a strong connection between sleep and puberty. Specifically, it was discovered that luteinizing hormone (LH), a potential marker for the onset of puberty, was increased during the deep sleep period. Furthermore, a high prevalence of early puberty was observed in patients with sleep disorders, especially in those experiencing narcolepsy. In this review article, findings related to the association between sleep disturbance and early puberty have been comprehensively summarized. Any contrary findings are also included and discussed. Advances in the knowledge surrounding sleep disturbance have led to a greater understanding of a correlation between early puberty and sleep disorder and provide alternative therapeutic options for the treatment of central precocious puberty in the future.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 117-124"},"PeriodicalIF":3.2,"publicationDate":"2024-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378173","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}

{"title":"A Comparison of Treatment Practices for Newborn Seizure Management Across Level II and III Neonatal Intensive Care Units in the United States","authors":"Jacky A. Dickman BS ,&nbsp;Jennifer C. Keene MD ,&nbsp;Niranjana Natarajan MD ,&nbsp;Lindsey A. Morgan MD ,&nbsp;Melisa Carrasco MD, PhD","doi":"10.1016/j.pediatrneurol.2024.09.006","DOIUrl":"10.1016/j.pediatrneurol.2024.09.006","url":null,"abstract":"<div><h3>Background</h3><div>Neonatal seizures (NS) represent an important clinical manifestation among critically ill infants and are often the first sign of underlying brain injury. Early recognition and treatment are essential to reduce morbidity and mortality. The present study investigated the NS management and treatment approaches employed by level II/III neonatal intensive care units (NICUs) across the United States to identify areas of consensus and variability.</div></div><div><h3>Methods</h3><div>Personnel associated with level II/III NICUs were directly surveyed with an electronic questionnaire. Access to neurology specialists, on-site electroencephalography (EEG) monitoring, and use of antiseizure medications was directly queried. A total of 51 NICUs participated in this survey.</div></div><div><h3>Results</h3><div>Twenty-five percent of the surveyed NICUs reported having an established clinical practice pathway available for treating NS. Twenty-four percent endorsed having written guidelines that provided a formal definition for the concept of “neonatal seizures.” Although the majority of NICUs reported having phenobarbital available for rapid seizure management, most NICUs lacked access to additional antiseizure medications for treatment escalation. Twenty-four percent of the surveyed NICUs had no access to EEG monitoring available to them on-site. Daytime and overnight access to neurology consultants was limited and variable.</div></div><div><h3>Conclusions</h3><div>Findings were consistent with a lack of equitable access for NS treatment. Areas of potential improvement include development and implementation of a protocol for rapidly treating NS that emphasizes enhanced access to EEG and rapid neurology consultation, acknowledging and improving upon resource limitations. These developments may eventually provide earlier detection, evaluation, and treatment of seizures in newborns, contributing to improved long-term outcomes.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 108-112"},"PeriodicalIF":3.2,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378171","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}

{"title":"A Retrospective Review of Reclassification of Variants of Uncertain Significance in a Pediatric Epilepsy Cohort Undergoing Genetic Panel Testing","authors":"Nitish Chourasia MD ,&nbsp;Rohan Vaidya DO ,&nbsp;Soham Sengupta PhD ,&nbsp;Heather C. Mefford MD, PhD ,&nbsp;James Wheless MD","doi":"10.1016/j.pediatrneurol.2024.09.009","DOIUrl":"10.1016/j.pediatrneurol.2024.09.009","url":null,"abstract":"<div><h3>Background</h3><div>The interpretation and communication of variant of uncertain significance (VUS) genetic results often present a challenge in clinical practice. VUSs can be reclassified over time into benign/likely benign (B/LB) or pathogenic/likely pathogenic (P/LP) based on the availability of updated data. We evaluate the frequency of VUS reclassification in our tertiary care epilepsy cohort undergoing epilepsy genetic panel (EGP) testing.</div></div><div><h3>Methods</h3><div>Patients with established diagnoses of epilepsy (neonates to 18 years of age) who underwent EGP testing between 2017 and 2022 from a single commercial laboratory were evaluated. Patients who had any variant reclassified from their initial EGP report were included. Duration between reclassification of VUSs and types of reclassifications were compared between developmental and epileptic encephalopathy (DEE) versus non-DEE phenotypes.</div></div><div><h3>Results</h3><div>Over the five years, 1025 probands were tested using EGP. Eighty-five probands (8%) had at least one genetic variant reclassified. A total of 252 initial VUSs were reported in the 85 probands, of which 113 (45%) VUSs were reclassified. Of 113 reclassification events, 21 (19%) were upgraded to P/LP and 92 (81%) were reclassified to B/LB. The median (interquartile range) duration between variant reinterpretations in the cohort was 12 (14.5) months. There were no significant differences in the duration between reclassification and the likelihood of reclassification of VUSs to B/LB or P/LP between the two groups (DEE versus non-DEE).</div></div><div><h3>Conclusions</h3><div>VUS reclassification over time can lead to clinically significant variant reinterpretation in patients with unknown genetic diagnoses. Periodic genomic test reinterpretation, preferably yearly, is recommended in routine clinical practice.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 101-107"},"PeriodicalIF":3.2,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366195","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}

{"title":"Helmet Therapy for Positional Plagiocephaly: A Systematic Review of the Tools Used to Diagnose, Offer Treatment Recommendations, and Assess Treatment Outcomes of the Condition","authors":"L. Kate Lamberta DO,&nbsp;Thomas R. Murray DO,&nbsp;Alison Gehred MLIS,&nbsp;Pedro Weisleder MD, PhD","doi":"10.1016/j.pediatrneurol.2024.09.007","DOIUrl":"10.1016/j.pediatrneurol.2024.09.007","url":null,"abstract":"<div><h3>Background</h3><div>Positional plagiocephaly (PP) is an asymmetric deformation of the skull as a consequence of external forces acting on a normal and pliable skull. The prevalence of PP ranges between 19.6% and 46.6%. Treatment options for PP include repositioning, physical therapy, and helmet orthoses. Consensus regarding the treatment of PP remains elusive due to the condition's imprecise natural history, dissimilar diagnostic strategies, and unreliable data asserting treatments' efficacy. Our aim was to conduct a systematic review of the tools used to diagnose, suggest treatment strategies, and assess outcomes for PP.</div></div><div><h3>Methods</h3><div>We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines to query a variety of databases. A total of 444 articles were imported into Covidence, a screening and data extraction tool for conducting systematic reviews.</div></div><div><h3>Results</h3><div>After a series of screenings, 60 articles met inclusion criteria and were reviewed in detail. The information was entered into a data extraction list consisting of 16 variables in the categories of general information, diagnostic strategies, treatment modalities, and treatment outcomes. Most articles reported retrospective case series, which yielded level 4 evidence. Only one article reported the results of a randomized and blinded outcomes assessment trial. Such article yielded level 1 evidence and was rated as high quality for allocation, concealment, and blinding of personnel.</div></div><div><h3>Conclusion</h3><div>The strategies used to diagnose and classify PP are a disparate list of measures most of which have no parallels making it impossible to offer treatment recommendations and generate generalizable knowledge.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 125-131"},"PeriodicalIF":3.2,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142378172","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}

{"title":"Low Incidence of Neurological Adverse Events Among Pediatric Patients With Moyamoya Undergoing General Anesthesia for NonRevascularization Procedures","authors":"Shiri Zarour MD ,&nbsp;Nitzan Zohar MD ,&nbsp;Jonathan Roth MD ,&nbsp;Shelly I. Shiran MD ,&nbsp;Tali Jonas Kimchi MD ,&nbsp;Udi Sadeh-Gonik MD ,&nbsp;Margaret Ekstein MD ,&nbsp;Moran Hausman-Kedem MD","doi":"10.1016/j.pediatrneurol.2024.09.008","DOIUrl":"10.1016/j.pediatrneurol.2024.09.008","url":null,"abstract":"<div><h3>Background</h3><div>General anesthesia poses a significant risk for patients with MMA, yet its risk in the setting of nonrevascularization procedures remains unclear. Data regarding the risk of general anesthesia for nonrevascularization procedures are scarce. We therefore aimed to assess the incidence of neurological adverse events (NAEs) among pediatric patients with MMA undergoing general anesthesia for nonrevascularization procedures.</div></div><div><h3>Methods</h3><div>We conducted a retrospective cohort study at a tertiary referral pediatric center of patients with MMA aged ≤18 years, who underwent general anesthesia for nonrevascularization procedures between January 2014 and July 2023. Postanesthesia NAEs were defined as occurrence of transient ischemic attacks, seizures, altered mental status, severe headache, or evidence of arterial ischemic stroke (AIS) in the 30 days postprocedure.</div></div><div><h3>Results</h3><div>Among 149 procedures on 38 patients (median age [interquartile range]: 8.3 [5.0, 12.7] years; 57% female), 124 (83.2%) procedures were imaging studies and angiographies and 25 (16.8%) were surgical procedures. Preprocedural hyperhydration treatment was administered before most (111, 74.5%) procedures per our institutional protocol. The incidence of postanesthesia NAEs was 0.67% (one of 149), as a result of acute AIS following a ventriculoperitoneal shunt revision surgery, in a patient with postradiation MMA, panhypopituitarism, and uncontrolled diabetes insipidus, despite preprocedural hyperhydration treatment. There were no NAEs after imaging studies performed under general anesthesia.</div></div><div><h3>Conclusions</h3><div>Our results suggest that general anesthesia for nonrevascularization procedures in pediatric patients with MMA prepared with hyperhydration is safe. As neuroradiological follow-up is central in children with MMA, this information can be valuable for reassuring patients and their families.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 162-166"},"PeriodicalIF":3.2,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142400971","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}

{"title":"Grip Strength and Sarcopenia in Children With Cerebral Palsy: A Level Playing Field?","authors":"Mahmud Fazıl Aksakal MD ,&nbsp;Ahmad J. Abdulsalam MD ,&nbsp;Murat Kara MD (Professor) ,&nbsp;Levent Özçakar MD (Professor)","doi":"10.1016/j.pediatrneurol.2024.09.002","DOIUrl":"10.1016/j.pediatrneurol.2024.09.002","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Page 84"},"PeriodicalIF":3.2,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142323183","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}

{"title":"Youth and Family Perspectives on Diagnosis Communication About Pediatric Functional Seizures: A Qualitative Study","authors":"Himadri Patel MD ,&nbsp;Ryan Malave MD ,&nbsp;Sydney Bitting BS ,&nbsp;Kaycee Weir PhD ,&nbsp;Taylor Naus LCSW ,&nbsp;Levi Shelton MD ,&nbsp;Kelly W. Harris MD, MS ,&nbsp;Wesley T. Kerr MD, PhD ,&nbsp;Anne C. Van Cott MD ,&nbsp;Laura Kirkpatrick MD","doi":"10.1016/j.pediatrneurol.2024.09.003","DOIUrl":"10.1016/j.pediatrneurol.2024.09.003","url":null,"abstract":"<div><h3>Background</h3><div>This study aims to understand diagnosis communication experiences and preferences of youths with functional seizures and their parents.</div></div><div><h3>Methods</h3><div>Semistructured interviews with youths and their parents from a tertiary care children's hospital were conducted separately. We confirmed the diagnosis of functional seizures with the youth's treating providers. All interviews were audio recorded and professionally transcribed. Two coders performed thematic analysis and determined themes.</div></div><div><h3>Results</h3><div>Thirteen youths (aged 12 to 18) and 13 parents completed interviews separately. Themes included the following: (1) both parents and youths reported substantial fear about their symptoms, diagnosis, prognosis, and treatment options; (2) good communication skills highlighted included providing reassurance, listening, and allowing time for questions, with different preferences between youths and parents in the mode of communication; (3) poor communication for both youths and parents included use of medical jargon, brevity of communication especially with the youth, minimization of youth's symptoms, lack of apparent compassion, and lack of written materials to supplement discussions; (4) perspectives on the role of mental health in functional seizures were heterogeneous, yet concrete treatment plans were desired including access to behavioral therapy; and (5) youths and parents wanted practical guidance including plans for school and how to respond to functional seizures in all settings.</div></div><div><h3>Conclusions</h3><div>Youths and parents provided concrete recommendations for optimal diagnosis communication. Study findings will inform the future development of an educational intervention to improve communication and create a supportive environment for youths with functional seizures.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 91-98"},"PeriodicalIF":3.2,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142357641","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}

{"title":"The Multiple Sclerosis Prodrome in a Retrospective Pediatric Cohort","authors":"Kelsey Barter MD ,&nbsp;Siefaddeen Sharayah MD ,&nbsp;Urmi Mange BA,&nbsp;Cristina M. Gaudioso MD,&nbsp;Natalie Schanzer BA,&nbsp;Connor Keuchel BA,&nbsp;Rachel Zolno MD,&nbsp;Soe Mar MD","doi":"10.1016/j.pediatrneurol.2024.09.005","DOIUrl":"10.1016/j.pediatrneurol.2024.09.005","url":null,"abstract":"<div><h3>Background</h3><div>Evidence suggests a prodromal phase in multiple sclerosis (MS), with increased health care use preceding the first demyelinating event (FDE). Although prior studies have explored this in adults, limited data exist for pediatric cases. We aimed to analyze health care utilization and prodromal symptoms in the two years before FDE in patients with pediatric-onset MS (POMS).</div></div><div><h3>Methods</h3><div>From 122 patients at the Pediatric Multiple Sclerosis &amp; Demyelinating Diseases Center at Washington University School of Medicine from 2011 to 2021, 37 POMS cases were identified. Of these, 21 with at least two years of records preceding FDE were included. Retrospective analysis covered symptoms and health care utilization in the two-year period before FDE, including ambulatory visits, hospital admissions, and office calls.</div></div><div><h3>Results</h3><div>Patients showed increased health care utilization in the year preceding FDE (period B; 96 interactions) compared with the prior year (period A; 77 interactions) and an increase in the percentage of neurology-related encounters (<em>P</em> &lt; 0.001). There was an increase in all office calls from period A to period B (<em>P</em> = 0.01). Neurological complaints included headaches (28.6%), visual (19.0%), sensory (14.3%), and balance (14.3%) in the two years before FDE, and 28.6% of patients presented for psychiatric complaints. Common non-neurological complaints included infection, dermatologic, and musculoskeletal issues and injury.</div></div><div><h3>Conclusions</h3><div>Our POMS cohort showed increased health care use before FDE, consistent with population-based data. This study emphasizes diverse symptoms in prodromal POMS, with headaches being the most common neurological symptom in the two-year period before FDE.</div></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 144-148"},"PeriodicalIF":3.2,"publicationDate":"2024-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392414","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}

{"title":"A Novel Question Prompt List for Parents of Neonates With Seizures","authors":"Natalie K. Field BS ,&nbsp;Hannah C. Glass MDCM, MAS ,&nbsp;Linda S. Franck RN, PhD ,&nbsp;Renée A. Shellhaas MD, MS ,&nbsp;Justin Means ,&nbsp;Monica E. Lemmon MD ,&nbsp;Neonatal Seizure Registry","doi":"10.1016/j.pediatrneurol.2024.08.012","DOIUrl":"10.1016/j.pediatrneurol.2024.08.012","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 64-66"},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142239861","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}

{"title":"Ultrarare Muscular Dystrophy Mimics Facioscapulohumeral Muscular Dystrophy","authors":"Bret J. Gardner MD, PhD,&nbsp;Meeta Cardon MD","doi":"10.1016/j.pediatrneurol.2024.09.004","DOIUrl":"10.1016/j.pediatrneurol.2024.09.004","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"161 ","pages":"Pages 99-100"},"PeriodicalIF":3.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142357642","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}