European Journal of Paediatric Neurology最新文献

{"title":"Ketogenic diet registry for epilepsy: A cross-sectional feasibility study","authors":"Elizabeth G. Neal ,&nbsp;Victoria J. Whiteley ,&nbsp;Elles van der Louw ,&nbsp;Anita M. Devlin ,&nbsp;Christin Eltze ,&nbsp;Suresh Pujar ,&nbsp;Zoe Simpson ,&nbsp;Isobel Hardy ,&nbsp;Alison Palmer ,&nbsp;Agnieszka Szmurlo ,&nbsp;Alasdair PJ. Parker ,&nbsp;Nicole Mills ,&nbsp;Ruth Ord ,&nbsp;Lieven Lagae ,&nbsp;Kristel Vande Kerckhove ,&nbsp;Sarita van den Berg ,&nbsp;J Helen Cross ,&nbsp;Natasha E. Schoeler","doi":"10.1016/j.ejpn.2024.10.011","DOIUrl":"10.1016/j.ejpn.2024.10.011","url":null,"abstract":"<div><div>We aimed to develop a registry (‘Keto-Reg’) for individuals with epilepsy referred for ketogenic dietary therapy (KDT) and to test feasibility of its implementation. The purpose of the registry is to provide a platform for collaborative research to answer specific research questions regarding long-term clinical and safety outcomes and to identify the most suitable candidates for KDT.</div><div>Registry data items were determined via an international Delphi survey of KDT healthcare professionals, and then entered into an electronic platform. Three UK and two other European KDT centres entered data for 10 ‘patients’ and reported on its acceptability and feasibility of use via questionnaire. 25 % of data was validated against medical records. A national survey was distributed and 19 parents and four young people were interviewed about a potential future patient/family section to the registry.</div><div>Healthcare professionals from six continents responded to the Delphi (n = 153 round 1, n = 79 round 2); 70 items reached the agreement threshold. Registry data entry was accurate (0.3 % errors identified) and reported to be feasible and acceptable in the short-term. Lack of time was identified as the main barrier to longer-term implementation, with funded hours required. 87 % of the 53 survey responders and all interviewees viewed a patient/family section to be positive and feasible.</div><div>We have shown healthcare professional involvement in Keto-Reg to be feasible in the short-term, and have identified what is necessary for the next stage: prospective longitudinal data entry from a larger number of international centres.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 131-137"},"PeriodicalIF":2.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142586345","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":"The development of checklists and reference charts for activities of daily living of normal developing children","authors":"Agnese Suppiej ,&nbsp;Laura Tessari ,&nbsp;Adriano Fasolo ,&nbsp;Martina Casarotto ,&nbsp;Carlotta Borghini ,&nbsp;Dario Gregori ,&nbsp;Elena Mercuriali","doi":"10.1016/j.ejpn.2024.10.008","DOIUrl":"10.1016/j.ejpn.2024.10.008","url":null,"abstract":"<div><h3>Aim</h3><div>To measure the performance in activities of daily living and obtain reference charts in normal developing children.</div></div><div><h3>Method</h3><div>This is a cross-sectional survey study. We identified relevant items suitable to describe a wide range of daily life activities and set up a self-administered questionnaire. An initial set of items underwent a correlation analysis integrated with clinical judgment, to remove those items providing limited additional information. Factor analysis was used to identify latent variables, enabling the grouping of selected items into specific skill-related areas. For each latent variable, a model was developed to represent the progression of performance in activities of daily living as the child advanced in age.</div></div><div><h3>Results</h3><div>We collected data related to 3079 children, 1478 females and 1601 males, of median (IQR) 10.7 (7.2) years of age. The initial 268-item set was reduced to 154-item related to 14 domains and gathered into 30 latent variables.</div></div><div><h3>Interpretation</h3><div>The results describe the age-related performance in activities of daily living and produce reference values associated to an Italian population of normal children less than 18 years of age.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 88-94"},"PeriodicalIF":2.3,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142444709","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":"Similar disease progression in nonsense Duchenne muscular dystrophy boys as general natural history: Single Brazilian center 15 years registry view","authors":"Flávia Nardes ,&nbsp;Alexandra Prufer de Queiroz Campos Araújo ,&nbsp;Sofia Russi ,&nbsp;Sarah Falcão Brasileiro Henriques","doi":"10.1016/j.ejpn.2024.10.007","DOIUrl":"10.1016/j.ejpn.2024.10.007","url":null,"abstract":"<div><div>Duchenne muscular dystrophy is a progressive and fatal X-linked neuromuscular disease. Emergent disease-modifying therapy (DMT) in nonsense Duchenne muscular dystrophy (nmDMD) has brought new perspectives to slow down functional decline in this fatal disease. To investigate if there are differences in natural history between nmDMD and other genotypes, we described a retrospective cohort analysis of 25 nonsense mutation DMD (nmDMD) boys without disease-modifying therapy, aged between 1 and 22 years, over the last 15 years (2007–2022) in a single neuromuscular center in Rio de Janeiro and use published data on DMD natural history for comparison. Regarding prognostic factors, there were remarkable and statistically significant early loss of ambulation (at 9.1y ±2.1) and shortening of life expectancy (17.6y ±2.1) in our nmDMD group. Late acquisition of neurodevelopmental milestones and annual rates of decline in respiratory, cardiac, and timed motor function tests are the same between nmDMD patients with standard care and other DMD genotypes as described in the literature. Our data indicates the similarity of natural history and disease progression among DMD boys with nmDMD mutations compared to different mutations.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 117-122"},"PeriodicalIF":2.3,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512190","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":"Report from the child neurology education and training workshop at the International Child Neurology Congress 2024: Expert's addressing the training gap","authors":"Jo M. Wilmshurst ,&nbsp;Dara VF. Albert ,&nbsp;Asif Doja ,&nbsp;Jaime Carrizosa ,&nbsp;Arushi Gahlot Saini ,&nbsp;Juhi Gupta ,&nbsp;Samson Gwer ,&nbsp;Charles Hammond ,&nbsp;Naoko Ishihara ,&nbsp;Charuta Joshi ,&nbsp;Edward Kija ,&nbsp;Mubeen Fatima Rafay ,&nbsp;Robert Sebunya ,&nbsp;Esra Serdaroglu ,&nbsp;Jorge Vidaurre ,&nbsp;Jithanghi Wanigasinghe ,&nbsp;Archana A. Patel","doi":"10.1016/j.ejpn.2024.10.004","DOIUrl":"10.1016/j.ejpn.2024.10.004","url":null,"abstract":"<div><div>This report summarizes the key findings of a workshop undertaken at the International Child Neurology Congress in 2024 by child neurologists with expertise in training education and invested colleagues. The workshop aimed to explore global issues which have impact on access to child neurology training. The major findings supported a great need for more training programs globally, that consensus is needed for the minimum standards of training, and that training programs can be strengthened via global health partnerships especially with collaborations from regions with more available resources. The group concurred that the phenomena of ‘neurophobia’ amongst general paediatricians and medical trainees, was a reality, and creates barriers both working with paediatric colleagues, as well as recruiting specialists to the field. Optimal teaching practices for child neurology should include the expansion of learning through global partnerships and virtual educational resources. Measures must be put into place for fledgling training programs, to support colleagues in less resourced settings and to avoid their burn-out. Collegial and collaborative work is essential to support the future of child neurology across the globe, both to reach the current capacity needs but also to meet the necessary growth in the field.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 104-108"},"PeriodicalIF":2.3,"publicationDate":"2024-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512189","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":"Type 1 spinal muscular atrophy treated with nusinersen in Norway, a five-year follow-up","authors":"Merete Wik-Klokk ,&nbsp;Magnhild Rasmussen ,&nbsp;Kristin Ørstavik ,&nbsp;Henrik Zetterberg ,&nbsp;Milada Hagen ,&nbsp;Marie Elizabeth Holtebekk ,&nbsp;Anette Ramm-Pettersen ,&nbsp;Sean Wallace","doi":"10.1016/j.ejpn.2024.09.009","DOIUrl":"10.1016/j.ejpn.2024.09.009","url":null,"abstract":"<div><h3>Background</h3><div>New treatments for 5q spinal muscular atrophy (SMA) have led to changes in the disease phenotype. Questions about long-term efficacy, however, persist. We present the results from five-year follow-up of the first ten Norwegian patients with SMA type1 treated with nusinersen.</div></div><div><h3>Methods</h3><div>– Ten patients referred to the expanded access program were included<strong>.</strong> Standardized assessments with Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), the Hammersmith Infant Neurological Examination (HINE-2), compound muscle action potential (CMAP) examination and cerebrospinal fluid analysis of neurofilament light chain (cNfL) were performed.</div></div><div><h3>Result</h3><div>Age at baseline ranged from three months to 11 years and eight months. Nine patients were alive and continued to receive treatment at 62 months of follow-up. CHOP INTEND scores increased significantly up to 38 months. Any further increase from 38 to 50 months was not statistically significant, and scores remained almost unchanged from 50 to 62 months. HINE-2 scores increased but the difference from baseline never reached statistical significance.</div><div>The youngest patients showed the best motor outcome. The changes in CMAP scores were not statistically significant. cNfL values were significantly reduced after 18 months compared with baseline; the largest difference occurred between baseline and 6 months<strong>.</strong> There was a significant negative correlation between log cNfL and CHOP INTEND (p = 0.042). Bulbar and respiratory function did not improve during the observation period.</div></div><div><h3>Conclusion</h3><div>Our findings support previously reported results on efficacy and safety of nusinersen. All patients have shown improvement in motor function. The need of respiratory and nutritional support did not improve.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 109-116"},"PeriodicalIF":2.3,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512191","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":"Cost-effective diagnosis for children with developmental and epileptic encephalopathy phenotype","authors":"Prateek Kumar Panda,&nbsp;Indar Kumar Sharawat","doi":"10.1016/j.ejpn.2024.10.006","DOIUrl":"10.1016/j.ejpn.2024.10.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 61-62"},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142434063","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":"Multicentric Pediatric Stroke Code: Insight to the first years after implementation","authors":"Ana Jové-Blanco ,&nbsp;José Antonio Ruiz Domínguez ,&nbsp;Aranzazu Flavia González-Posada Flores ,&nbsp;Luisa Barón González de Suso ,&nbsp;María de Ceano-Vivas la Calle ,&nbsp;Cristina Verdú Sánchez ,&nbsp;Pilar Tirado Requero ,&nbsp;Blanca Fuentes Gimeno ,&nbsp;Cristina Utrilla Contreras ,&nbsp;Lidia Oviedo-Melgares ,&nbsp;Noemí Núñez Enamorado ,&nbsp;Ana Martínez de Aragón ,&nbsp;Débora Sanz Álvarez ,&nbsp;Yolanda Ruiz Martín ,&nbsp;Antonio Carmelo Gil Nuñez ,&nbsp;Pedro de Castro de Castro ,&nbsp;María Vázquez-López","doi":"10.1016/j.ejpn.2024.10.001","DOIUrl":"10.1016/j.ejpn.2024.10.001","url":null,"abstract":"<div><h3>Background</h3><div>The development of unicentric pediatric acute stroke protocols has improved stroke diagnosis and treatment. The impact of the implementation of a multicentric Pediatric Stroke Code (PSC) remains unknown.</div></div><div><h3>Aim</h3><div>to describe the characteristics of the PSC activations and identify clinical features associated with stroke compared to stroke mimics in children in whom a multicentric PSC had been activated and compare them to reported monocentric PSC results.</div></div><div><h3>Methods</h3><div>Observational, retrospective, case and control multicentric study, performed in the Pediatric Emergency Department (PED) of the three Primary Pediatric Stroke Centers (PPSCs) in Madrid (Spain). Study population corresponded to children between 28 days and 16 years old in whom PSC was activated that consulted or were referred to any of the PPSC PED between March 2019 and June 2022. The main outcome was to compare the characteristics of patients with final diagnosis of stroke versus stroke mimics, among all patients for which PSC had been activated. Logistic regression modeling was used to investigate associations between independent variables and stroke diagnosis. Odds ratio (ORs) and 95 % confidence intervals (95%CIs) were estimated.</div></div><div><h3>Results</h3><div>PSC was activated in 196 patients. Stroke was confirmed in 39 patients (19.9 %): 20 (10.2 %) had an ischemic stroke and 19 (9.7 %) a hemorrhagic stroke. Stroke mimics represented 80.1 % of the PSC activations. Migraine was the most frequent stroke mimic (38.3 %). Time from symptom onset to brain imaging was 233.00 min (IQR 153.00–373.00) when patients self-presented at the PPSC compared to 231.00 min (IQR 129.00–400.00) when PSC was triggered at other settings (p0.580). Five patients (25.3 %) were eligible for hyperacute recanalization treatment. Low level of consciousness (OR4.373, 95%IC 0.247–0.652, p &lt; 0.001), sensory disruption/motor disability of face/limbs (OR3.633, 95%IC 0.103–0.349, p &lt; 0.001), aphasia (OR2.311, 95%IC 0.023–0.284, p0.022) and altered mental status (OR2.517, 95%IC 0.043–0.357, p0.013) were associated with an increased probability of stroke.</div></div><div><h3>Conclusion</h3><div>multicentric PSC achieved similar results to previously reported unicentric PSCs, showing the feasibility of such an organization.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 95-103"},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142444710","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":"Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature","authors":"Maria Eugenia Amato ,&nbsp;Sol Balsells ,&nbsp;Loreto Martorell ,&nbsp;Adrián Alcalá San Martín ,&nbsp;Karen Ansell ,&nbsp;Malene Landbo Børresen ,&nbsp;Heather Johnson ,&nbsp;Christian Korff ,&nbsp;Stephanie Garcia-Tarodo ,&nbsp;Jeremie Lefranc ,&nbsp;Anne-Sophie Denommé-Pichon ,&nbsp;Elisabeth Sarrazin ,&nbsp;Nora Zsuzsanna Szabo ,&nbsp;Jorge M. Saraiva ,&nbsp;Dorota Wicher ,&nbsp;Anne Goverde ,&nbsp;Karen G.C.B. Bindels-de Heus ,&nbsp;Tahsin Stefan Barakat ,&nbsp;Juan Darío Ortigoza-Escobar","doi":"10.1016/j.ejpn.2024.10.005","DOIUrl":"10.1016/j.ejpn.2024.10.005","url":null,"abstract":"<div><h3>Background and objectives</h3><div>Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in <em>YWHAG</em> and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution.</div></div><div><h3>Methods</h3><div>We analyzed data from thirty-nine individuals aged 3–40 years with <em>YWHAG</em> variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.23 deletions) and 27 previously published cases (21 families, including 3 adult individuals reported in a family case). Our assessments encompassed clinical, radiological, and genetic evaluations. All procedures adhered to standardized protocols for patient approvals, registrations, and data collection.</div></div><div><h3>Results</h3><div>Individuals with <em>YWHAG</em> variants exhibited variable psychomotor delay, with the majority experiencing mild intellectual disability. Early-onset seizures, particularly febrile seizures, were common, with various seizure types reported. Valproic acid has emerged as an effective antiseizure medication. Movement disorders were present in a subset of individuals, primarily manifesting as ataxia and tremor. Comorbidities such as autism spectrum disorders and attention deficit-hyperreactivity disorder were observed in a proportion of individuals. We identified a novel <em>YWHAG</em> variant (c.634_645del/p.Asn212_Ser215del) and expanded the genotypic spectrum of the disease.</div></div><div><h3>Conclusions</h3><div>We provide insights into the clinical, radiological, and genetic features of <em>YWHAG</em>-related epileptic encephalopathy. Despite mild clinical symptoms, affected individuals face challenges in daily functioning, underscoring the need for comprehensive care. Valproic acid has been used for seizure control with variable results.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 63-72"},"PeriodicalIF":2.3,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142437821","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":"Spatiotemporal coordination in children with unilateral cerebral palsy: Insights from a bimanual goal-directed task","authors":"Lisa Mailleux ,&nbsp;Lisa Decraene ,&nbsp;Alexandra Kalkantzi ,&nbsp;Lize Kleeren ,&nbsp;Monica Crotti ,&nbsp;Anja Van Campenhout ,&nbsp;Geert Verheyden ,&nbsp;Els Ortibus ,&nbsp;Dido Green ,&nbsp;Katrijn Klingels ,&nbsp;Hilde Feys","doi":"10.1016/j.ejpn.2024.10.003","DOIUrl":"10.1016/j.ejpn.2024.10.003","url":null,"abstract":"<div><h3>Background</h3><div>In children with unilateral cerebral palsy (uCP), bimanual assessments mostly focus on qualitative assessments of the impaired upper limb during bimanual tasks, which do not capture the spatiotemporal coordination between both hands. Hence, we aimed to advance our understandings in spatiotemporal coordination in children with uCP compared to typically developing children (TDC) using a bimanual, asymmetrical, goal-directed task.</div></div><div><h3>Participants and methodology</h3><div>In this observational study, thirty-seven children with uCP (11y8m±2y10m, 20 males, 16 right-sided uCP, Manual Ability Classification System level I = 23, II = 11, III = 3) and 37 age and sex-matched TDC opened a box with one hand and pressed a button inside using the opposite hand. Spatiotemporal bimanual (movement time, temporal coupling, movement overlap, goal synchronisation) and unimanual (movement time, path length and smoothness) parameters were extracted. Between groups comparisons were investigated using a two-way mixed ANCOVA with age as covariate (<em>α</em> &lt; 0.05). Additionally, correlation coefficients between unimanual and bimanual parameters were calculated.</div></div><div><h3>Results</h3><div>Compared to TDC, children with uCP were slower (p = 0.01, η_p² = 0.13) and presented unimanual spatiotemporal deficits in both upper limbs (p &lt; 0.03, η_p²&gt;0.10), which worsened in children with lower manual abilities (p &lt; 0.04, η_p²&gt;0.19). However, they did not differ in bimanual coupling (p &gt; 0.31, η_p²&lt;0.03). Furthermore, slower movement time was related with increased unimanual spatiotemporal deficits bilaterally (r = 0.34–0.80, p = 0.001–0.04), suggesting that reduced performance at both upper limbs contributes to bimanual difficulties in children with uCP.</div></div><div><h3>Conclusions</h3><div>The bilateral reduced spatiotemporal performance, related to longer bimanual movement time, stresses the importance to assess and treat both upper limbs in children with uCP.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2024-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142442397","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":"Predictive value of brain MRI for neurodevelopmental outcome in infants with severe unconjugated hyperbilirubinemia: A systematic review","authors":"Noortje M. van der Meulen ,&nbsp;Karin L. Meijers ,&nbsp;Jeroen Dudink ,&nbsp;Laura A. van de Pol","doi":"10.1016/j.ejpn.2024.09.010","DOIUrl":"10.1016/j.ejpn.2024.09.010","url":null,"abstract":"<div><h3>Context</h3><div>Debate exists regarding predictive value of brain MRI for long-term neurodevelopmental outcome (NDO) in infants with severe unconjugated hyperbilirubinemia (above exchange transfusion levels).</div></div><div><h3>Objective</h3><div>To investigate whether MRI findings among (pre-)term infants with severe unconjugated hyperbilirubinemia can predict NDO at ≥ 12 months and determine optimal timing for MRI.</div></div><div><h3>Data sources</h3><div>PubMed and Embase. Last update: June 14, 2024.</div></div><div><h3>Study selection</h3><div>Studies in which (pre-)term infants with severe unconjugated hyperbilirubinemia who underwent an MRI before 24 months and had a reported NDO at ≥ 12 months were included.</div></div><div><h3>Data extraction</h3><div>Patient characteristics, MRI and NDO details were extracted.</div></div><div><h3>Results</h3><div>The search yielded 732 studies, of which 22 were included. Individual patient information was obtained for 120 infants (MRI-timing: early (≤6 weeks) n = 75, late (&gt;6 weeks) n = 19, unknown n = 26). Positive predictive value (PPV) of abnormal MRI in the total group for impaired NDO was high (77.5 %). The PPV of late compared to early MRI was much higher, 92.3 % versus 71.7 %. Negative predictive value of normal MRI for normal NDO in the total group was low (29.0 %) and again higher in late compared to early MRI, 50.0 % versus 27.3 %.</div></div><div><h3>Limitations</h3><div>Quantitative synthesis of results was impossible due to large heterogeneity in study designs. Furthermore, selection bias towards patients with impaired outcome might have influenced our results.</div></div><div><h3>Conclusions</h3><div>Brain MRI can serve as prognostic tool for NDO in infants with severe unconjugated hyperbilirubinemia, both in early and late stages, but each timing has inherent constraints. Further prospective studies are necessary.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"53 ","pages":"Pages 49-60"},"PeriodicalIF":2.3,"publicationDate":"2024-09-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376272","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}