Pediatric neurology最新文献

{"title":"Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10","authors":"Serhat Guler MD ,&nbsp;Ayca Dilruba Aslanger MD ,&nbsp;Turkan Uygur Sahin MD ,&nbsp;Alpay Alkan MD ,&nbsp;Cengiz Yalcinkaya MD ,&nbsp;Sema Saltik MD ,&nbsp;Gözde Yesil MD","doi":"10.1016/j.pediatrneurol.2024.05.017","DOIUrl":"10.1016/j.pediatrneurol.2024.05.017","url":null,"abstract":"<div><h3>Background</h3><p>Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed.</p></div><div><h3>Methods</h3><p>Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded.</p></div><div><h3>Results</h3><p>Patients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings.</p></div><div><h3>Conclusions</h3><p>Progressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141390029","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":"Clinical Experience With Lacosamide as an Adjunct Treatment for Neonatal Seizures: A Retrospective Single-Center Study","authors":"Nitish Chourasia MD ,&nbsp;Jacob Dohmeier BS ,&nbsp;JuleLayne Curry BA ,&nbsp;Samantha Parkhurst MD ,&nbsp;Basangoud Mudigoudar MD ,&nbsp;Marianna Rivas-Coppola MD ,&nbsp;James Wheless MD","doi":"10.1016/j.pediatrneurol.2024.05.019","DOIUrl":"10.1016/j.pediatrneurol.2024.05.019","url":null,"abstract":"<div><h3>Background</h3><p>Lacosamide (LCM) is a third-generation antiseizure medication (ASM) currently approved for the treatment of focal seizures in children aged greater than one month. There are limited data on its efficacy in the neonatal age group. We describe our experience with LCM as an adjunct ASM for the treatment of neonatal seizures.</p></div><div><h3>Methods</h3><p>A retrospective chart review over a five-year period (2018 to 2022) was conducted at Le Bonheur Children's Hospital to identify neonates with electroencephalography (EEG)-proven seizures who were treated with LCM. Data were collected on electroclinical seizure characteristics, underlying etiology, ASMs, treatment response, and any adverse effects.</p></div><div><h3>Results</h3><p>A total of 15 neonates with EEG-confirmed seizures who were treated with LCM were included. Ten neonates achieved seizure cessation after LCM was added to their ASM regimen consisting of phenobarbital, levetiracetam, or both. No new treatment-related adverse effects were noted.</p></div><div><h3>Conclusions</h3><p>LCM is effective as an adjunct treatment for neonatal seizures. Randomized controlled studies are needed to establish its effectiveness and adequate dosing regimen in this population.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141401984","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":"Stroke and Stroke-Like Episodes: Recurrent Manifestations in GLUT1 Deficiency Syndrome","authors":"Sara Olivotto MD ,&nbsp;Anna Freddi MD ,&nbsp;Roberto Previtali MD ,&nbsp;Alessia Mauri MSc ,&nbsp;Cristina Cereda PhD ,&nbsp;Ramona De Amicis RD, PhD ,&nbsp;Simona Bertoli MD, PhD ,&nbsp;Chiara Doneda MD ,&nbsp;Pierangelo Veggiotti MD","doi":"10.1016/j.pediatrneurol.2024.05.024","DOIUrl":"10.1016/j.pediatrneurol.2024.05.024","url":null,"abstract":"<div><h3>Background</h3><p>Since the initial description of glucose transporter-1 deficiency syndrome (Glut1-DS) the phenotype of the condition has expanded, even leading to the recognition of atypical manifestations. We report on eight patients with Glut1-DS who experienced at least one episode of acute focal neurological deficits.</p></div><div><h3>Methods</h3><p>We conducted a retrospective analysis, collecting clinical, electrophysiological, neuroradiological, and genetic information. We focused in particular on three well-documented cases.</p></div><div><h3>Results</h3><p>Among 42 patients with Glut1-DS, eight individuals aged between six and 38 years presented with an acute onset of neurological disturbances: dysarthria/aphasia, oral dyskinesia, swallowing difficulties, paresthesia, facial palsy, hemi/monoplegia, vomiting, headache, and behavioral disturbances. When performed, magnetic resonance imaging (MRI) revealed signs of venous congestion and hypoperfusion and electroencephalography showed focal contralateral slowing. Deficits were transient in all patients but one. Four patients (50%) were on a ketogenic diet (KD), and two of these patients had lower than usual ketonemia levels during the episode. In two patients, MRI demonstrated the presence of an ischemic brain lesion.</p></div><div><h3>Conclusions</h3><p>In Glut1-DS, stroke-like episodes are a recurrent manifestation, particularly during early adulthood, and they were reported in 19% of the patients in our cohort. Stroke mimics should be considered a key feature of Glut1-DS, as other paroxysmal disorders. It remains to be established whether a KD can prevent the recurrence of episodes and, if so, at what level of ketosis. Further observations are needed to confirm the correlation between Glut1-DS and ischemic stroke.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S088789942400225X/pdfft?md5=ebfa6f81ff4858b1616c795dac30e2a8&pid=1-s2.0-S088789942400225X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141416322","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Beyond the Tailbone: A Family's Journey Through Caudal Regression Syndrome—A Triple Sibship","authors":"Marya Hameed MBBS, EDiR ,&nbsp;Muhammad Fazal Hussain Qureshi MBBS","doi":"10.1016/j.pediatrneurol.2024.05.021","DOIUrl":"10.1016/j.pediatrneurol.2024.05.021","url":null,"abstract":"<div><h3>Background</h3><p>Caudal regression syndrome (CRS), also known as caudal agenesis, results from abnormal development of the caudal aspect of the spinal cord and vertebral column due to an earlier abnormality of gastrulation.</p></div><div><h3>Results</h3><p>This report showcases a unique scenario where three siblings, devoid of any prior family history or identifiable risk factors, exhibit symptoms of CRS and receive care at a government-run tertiary facility dedicated to children's health. In establishing a concrete diagnosis, we relied on skeletal surveys, comprehensive symptom evaluation, and medical history assessment. Additionally, we recommended further investigation through magnetic resonance imaging and genetic testing to attain a more in-depth understanding and confirmation of the condition. Unfortunately, the financial constraints faced by the parents led to the unfeasibility of pursuing these advanced diagnostic options. Given the rarity of this syndrome and the limited existing literature, our report is a significant contribution. It marks the first comprehensive exploration of CRS from the genetic and familial predisposition perspective, shedding new light on this rare condition.</p></div><div><h3>Conclusion</h3><p>This case series pioneers our understanding of the familial and genetic connections between CRS and sacral agenesis. Strikingly, each subsequent generation has experienced more severe manifestations earlier, furnishing compelling evidence that underpins the genetic predisposition to CRS.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141276255","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":"Seizures in Children With Severe Acute Respiratory Syndrome Coronavirus 2 Infection","authors":"Begoña de Miguel Lavisier PhD ,&nbsp;Miguel Ángel Molina Gutiérrez PhD ,&nbsp;Ruth Camila Púa Torrejón MD ,&nbsp;María Ángeles García Herrero MD ,&nbsp;María Dolores Rodríguez Mesa MD ,&nbsp;Marta Furones García MD ,&nbsp;Rosario López López PhD ,&nbsp;Marta Bueno Barriocanal MD ,&nbsp;Paula García Sánchez MD ,&nbsp;Jose Antonio Ruíz Domínguez PhD ,&nbsp;María de Ceano-Vivas Lacalle MD","doi":"10.1016/j.pediatrneurol.2024.05.023","DOIUrl":"10.1016/j.pediatrneurol.2024.05.023","url":null,"abstract":"<div><h3>Background</h3><p>Although respiratory symptoms are the most prominent manifestations of coronavirus disease 2019 (COVID-19), severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), and especially the omicron variant, may cause neurological manifestations such as seizures. It remains unclear if specific variants of the virus increase the risk of seizures more than others.</p></div><div><h3>Material and Methods</h3><p>This was a retrospective multicenter study of pediatric (zero to 16 years) patients with COVID-19 who attended five pediatric emergency departments in Madrid, Spain, between March 2020 and July 2022. An analysis of demographics, medical history, and seizure characteristics was conducted. The data obtained were correlated with the incidence of the different strains of SARS-CoV-2 in the Community of Madrid.</p></div><div><h3>Results</h3><p>A total of 2411 seizures (infectious and noninfectious) were recorded, and 35 of them (1.4%) were positive for SARS-CoV-2. Of those 35 patients, 18 (51.4%) reported a history of previous seizures. The highest percentage of cases occurred when the omicron variant was the most prevalent (28 [80%] vs 7 [20%] before omicron variant). Typical febrile seizures accounted for 52.9% of the cases. No treatment was required in more than half (57.1%) of the cases.</p></div><div><h3>Conclusion</h3><p>during the emergence of the omicron variant, there has been an increase in the number of COVID-19-associated seizures. These findings highlight the need for SARS-CoV-2 screening in patients with febrile and afebrile seizures, in addition to other microbiological, biochemical, or neuroimaging tests, depending on the patient's age and clinical presentation.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141274523","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":"Editorial-Pediatric Neurology Trainee Award.","authors":"J Nicholas Brenton, Lauren A Beslow, Francis J DiMario, Jonathan Santoro, Alcy Torres, Yvonne W Wu","doi":"10.1016/j.pediatrneurol.2024.04.014","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.04.014","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142000530","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 Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era","authors":"Seda Kanmaz MD ,&nbsp;Sanem Yılmaz MD ,&nbsp;Cemile Büşra Olculu MD ,&nbsp;Dilara Ece Toprak MD ,&nbsp;Tuğçe Ince MD ,&nbsp;Özlem Yılmaz MD ,&nbsp;Yavuz Atas MD ,&nbsp;Gursel Sen MD ,&nbsp;Erdem Şimşek MD ,&nbsp;Hepsen Mine Serin MD ,&nbsp;Enise Avcı Durmuşalioğlu MD ,&nbsp;Esra Işık MD ,&nbsp;Tahir Atik MD ,&nbsp;Gul Aktan MD ,&nbsp;Ozgur Cogulu MD ,&nbsp;Sarenur Gokben MD ,&nbsp;Ferda Ozkınay MD ,&nbsp;Hasan Tekgul MD","doi":"10.1016/j.pediatrneurol.2024.05.018","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.05.018","url":null,"abstract":"<div><h3>Background</h3><p>To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era.</p></div><div><h3>Methods</h3><p>The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing). The diagnostic utility of genetic testing was evaluated to compare the early-NGS period (2005 to 2013, n = 183) and the NGS era (2014 to 2021, n = 131).</p></div><div><h3>Results</h3><p>An ESD was established in 221 of 314 (70.4%) infants with IESS: structural, 40.8%; genetic, 17.2%; metabolic, 8.3%; immune-infectious, 4.1%. The diagnostic yield of genetic testing increased from 8.9% to 41.7% in the cohort during the four follow-up periods. The rate of unknown etiology decreased from 34.9% to 22.1% during the follow-up periods. The genetic ESD was established as 27.4% with genetic testing in the NGS era. The genetic testing in the NGS era increased dramatically in subgroups with unknown and structural etiologies. The diagnostic yields of the epilepsy panels increased from 7.6% to 19.2%. However, the diagnostic yield of whole exome sequencing remained at similar levels during the early-NGS period at 54.5% and in the NGS era at 59%.</p></div><div><h3>Conclusions</h3><p>The more genetic ESD (27.4%) was defined for IESS in the NGS era with the implication of precision therapy (37.7%).</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141435173","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":"Cerebral Palsy Phenotypes in Genetic Epilepsies","authors":"Siddharth Srivastava MD ,&nbsp;Hyun Yong Koh MD, PhD ,&nbsp;Lacey Smith MS, CGC ,&nbsp;Annapurna Poduri MD, MPH","doi":"10.1016/j.pediatrneurol.2024.05.016","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.05.016","url":null,"abstract":"<div><h3>Background</h3><p>Although there are established connections between genetic epilepsies and neurodevelopmental disorders like intellectual disability, the presence of cerebral palsy (CP) in genetic epilepsies is undercharacterized. We performed a retrospective chart review evaluating the motor phenotype of patients with genetic epilepsies.</p></div><div><h3>Methods</h3><p>Patients were ascertained through a research exome sequencing study to identify genetic causes of epilepsy. We analyzed data from the first 100 individuals with molecular diagnoses. We determined motor phenotype by reviewing medical records for muscle tone and motor function data. We characterized patients according to CP subtypes: spastic diplegic, spastic quadriplegic, spastic hemiplegic, dyskinetic, hypotonic-ataxic.</p></div><div><h3>Results</h3><p>Of 100 individuals with genetic epilepsies, 14% had evidence of possible CP, including 5% characterized as hypotonic-ataxic CP, 5% spastic quadriplegic CP, 3% spastic diplegic CP, and 1% hemiplegic CP. Presence of CP did not correlate with seizure onset age (<em>P</em> = 0.63) or seizure control (<em>P</em> = 0.07). CP occurred in 11% (n = 3 of 27) with focal epilepsy, 9% (n = 5 of 54) with generalized epilepsy, and 32% (n = 6 of 19) with combined focal/generalized epilepsy (<em>P</em> = 0.06).</p></div><div><h3>Conclusions</h3><p>In this retrospective analysis of patients with genetic epilepsies, we identified a substantial portion with CP phenotypes, representing an under-recognized comorbidity. These findings underscore the many neurodevelopmental features associated with neurogenetic conditions, regardless of the feature for which they were ascertained for sequencing. Detailed motor phenotyping is needed to determine the prevalence of CP and its subtypes among genetic epilepsies. These motor phenotypes require clinical management and represent important targeted outcomes in trials for patients with genetic epilepsies.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.8,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141429554","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":"Sexual Health Education and Quality of Counseling in Pediatric-Onset Multiple Sclerosis","authors":"Kelly Burk MD, MPH ,&nbsp;Dania Pagarkar MD ,&nbsp;Mellad M. Khoshnood MD ,&nbsp;Saba Jafarpour MD ,&nbsp;Nusrat Ahsan MD ,&nbsp;Wendy G. Mitchell MD ,&nbsp;Jonathan D. Santoro MD","doi":"10.1016/j.pediatrneurol.2024.05.015","DOIUrl":"https://doi.org/10.1016/j.pediatrneurol.2024.05.015","url":null,"abstract":"<div><h3>Background</h3><p>Disease-modifying therapies (DMTs) have revolutionized the management of multiple sclerosis (MS). Many DMTs have a risk of teratogenic outcomes, which is notable as MS disproportionally affects women of reproductive age and the rates of unplanned pregnancies among persons with MS (PwMS) are as high as 34%. Prior research suggests that patients' culture may influence their perspectives surrounding family planning. Given our institution's patient population, we compared the spectrum of knowledge in Hispanic and non-Hispanic patients with pediatric-onset MS (POMS) regarding DMTs and their associated risks during pregnancy and possible disparities in their treatment and counseling.</p></div><div><h3>Methods</h3><p>A small cohort of patients with POMS (n = 22) were surveyed on their knowledge and beliefs surrounding family planning and sexual health counseling. Odds ratios and 95% confidence intervals were used to evaluate the association between survey question responses and ethnicity.</p></div><div><h3>Results</h3><p>No significant differences in beliefs or knowledge regarding sexual health between Hispanic and non-Hispanic participants were identified, but many valuable themes emerged. Internet access and social relationships heavily influence participants’ knowledge surrounding birth control and sexual health. Patients also desired continuous engagement in sexual health counseling.</p></div><div><h3>Conclusions</h3><p>In this small pilot cohort, cultural views did not significantly influence whether adolescent and young adult patients with POMS seek sexual health resources. Future studies should aim to identify effective interventions for providers to educate PwMS about sexual health and family planning to address the elevated unplanned pregnancy rate in this population and provide the education these patients have vocalized a desire to receive.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141435174","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":"Electroencephalographic Patterns on Follow-Up Visits in Extremely Premature Infants With Periventricular Leukomalacia: An Observational Study","authors":"Sammie Lai MD ,&nbsp;Jacob Keeley MS ,&nbsp;Danielle Nolan MD ,&nbsp;Elizabeth Kring NSN, CCRC ,&nbsp;Nicole Rickard MS, OTRL ,&nbsp;Amanda S. Froling MPT, C/NDT ,&nbsp;Rawad Obeid MD","doi":"10.1016/j.pediatrneurol.2024.05.014","DOIUrl":"10.1016/j.pediatrneurol.2024.05.014","url":null,"abstract":"<div><h3>Background</h3><p>Periventricular leukomalacia (PVL) is a common brain injury in premature infants, and epilepsy remains a significant complication. One concerning electroencephalographic (EEG) pattern found is developmental and/or epileptic encephalopathy with spike-and-wave activation in sleep (DEE-SWAS). This pattern is associated with persistent neuropsychological and motor deficits, even without a diagnosis of epilepsy. The purpose of this study is to identify the relationships between various PVL grades and EEG patterns in this population on follow-up visits, especially the occurrence of DEE-SWAS pattern on EEG.</p></div><div><h3>Methods</h3><p>This is a retrospective study of &lt;36 weeks gestational age newborns who were followed in the neurodevelopmental clinic at Corewell Health East/Corewell Health Children's Hospital in Royal Oak, Michigan, between 2020 and 2022. Patients' demographics along with prematurity complications, diagnostic head ultrasound (HUS), and EEG studies were reviewed and graded. EEG studies are usually ordered when seizures were suspected.</p></div><div><h3>Results</h3><p>A total of 155 newborns met the inclusion criteria. Twenty-six patients had PVL. Nine patients had grade 2 to 3 PVL based on HUS review. EEG was performed on 15 patients with PVL at a mean age of 22 months. More severe PVL grades were significantly associated with worse EEG patterns (<em>P</em> = 0.005). Five patients had DEE-SWAS pattern on EEG, all of whom had grade 2 or 3 PVL. Epilepsy was eventually diagnosed in three infants with PVL.</p></div><div><h3>Conclusions</h3><p>EEG can help identify important abnormal electrographic patterns in premature infants with PVL early in life; this might give a window of opportunity to intervene early and improve long-term developmental outcomes in this population.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":null,"pages":null},"PeriodicalIF":3.2,"publicationDate":"2024-05-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141451141","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}