Neuropediatrics最新文献

{"title":"Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Real-World Experience from a Single Center.","authors":"Mirella Gaboli, Mercedes López Lobato, Justo Valverde Fernández, Patricia Ferrand Ferri, Eloisa Rubio Pérez, Henry A Andrade Ruiz, José María López-Puerta González, Marcos Madruga-Garrido","doi":"10.1055/a-2379-7069","DOIUrl":"10.1055/a-2379-7069","url":null,"abstract":"<p><strong>Background: </strong>Due to the limited data from clinical trials and real-world settings in the realm of nusinersen, there is a need for further evidence. This study seeks to assess the impact of nusinersen, when combined with standard care, on bulbar function, respiratory function, and the necessity for respiratory support among pediatric patients with spinal muscular atrophy (SMA).</p><p><strong>Methods: </strong>Prospective observational study, involving pediatric SMA patients (Types 1-3) undergoing nusinersen treatment at the Hospital Universitario Virgen del Rocío in Spain over at least 24 months. The cohort included 11 SMA type 1 patients, comprising 6 type 1b and 5 type 1c, 12 SMA type 2 patients, and 5 SMA type 3 patients.</p><p><strong>Results: </strong>Twenty-eight pediatric patients were enrolled with the majority being male (<i>n</i> = 20). Patients with type 1 were diagnosed and received treatment significantly earlier than those with types 2 and 3 (<i>p</i> < 0.001). Additionally, there was a longer period between diagnosis and the start of treatment in types 2 and 3 (<i>p</i> = 0.002). Follow-up revealed statistically improved functional and respiratory outcomes associated with earlier initiation of nusinersen treatment at 6, 12, and 24 months in all phenotypes. The ability to swallow and feed correctly remained unchanged throughout the study, with SMA type 1c patients maintaining oral feeding in contrast to patients with SMA type 1b. Notably, no deaths were recorded.</p><p><strong>Conclusions: </strong>This study provides important insights into the real-world clinical progress of pediatric SMA patients and their response to nusinersen treatment, highlighting the significance of early intervention for better functional and respiratory outcomes.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"2-11"},"PeriodicalIF":1.1,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141894003","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Olfactory Dysfunction in Children and Adolescents-A Diagnostic Pathway.","authors":"Janine Gellrich, Elisabeth C Lohrer, Thomas Hummel, Valentin A Schriever","doi":"10.1055/a-2509-8547","DOIUrl":"https://doi.org/10.1055/a-2509-8547","url":null,"abstract":"<p><p>Olfactory disorders have so far played a subordinate role in pediatric care, although children can also be affected. Due to a lack of awareness, the diagnosis can often only be made after numerous visits to the doctor, although it can significantly impact the quality of life. Olfactory disorders in adults are usually acquired, while congenital causes dominate in children. To date, there are no specific recommendations for diagnosis in children. This article deals with the prevalence, causes, and diagnostic approaches of olfactory disorders in pediatrics. A structured diagnostic approach is fundamental, including a medical history and psychophysical olfactory tests, supplemented by specific examinations depending on the suspected diagnosis. Therapeutic approaches are limited, with a focus on counseling and olfactory training.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143008834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes.","authors":"Jernej Avsenik, Mirjana P Benedik, Mihael Rogač, Asthik Biswas, Sniya Sudhakar, Felice D'Arco, Ulrike Löbel, Kshitij Mankad","doi":"10.1055/a-2509-0348","DOIUrl":"10.1055/a-2509-0348","url":null,"abstract":"<p><p>We describe a set of monozygotic twins with Glutamate Ionotropic Receptor N-methyl-D-aspartate Type Subunit 2B-related neurodevelopmental disorder (GRIN2B-ND) who exhibited distinct clinical and imaging characteristics due to a de novo heterozygous pathogenic variant in the <i>GRIN2B</i> gene (c.2453T > C, p.Met818Thr). Twin A displayed extensive symmetric malformation of cortical development (MCD) resembling polymicrogyria, accompanied by shallow sulci, dilated lateral ventricles, and dysplastic appearances of the basal ganglia, corpus callosum, and hippocampi. In twin B, malformative features, such as reduced brain volume, MCD, shallow sulci, and dilated lateral ventricle, were confined to the left hemisphere. In combination with previously published data, our report highlights variable phenotypes associated with the p.(Met818Thr) pathogenic variant, specifically with a potential for asymmetric or even unilateral presentation. We discuss the potential interplay between genetic and environmental factors underlying this phenomenon within the context of monozygotic twins. In addition, we also highlight the importance of recognizing potential genetic underpinnings in the assessment of apparently unilateral brain malformations.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inheritance of Primary Headache in Children and Adolescents-A Scoping Review.","authors":"Camille C H Winther, Amalie A Berring-Uldum, Nanette Mol Debes","doi":"10.1055/a-2505-8261","DOIUrl":"10.1055/a-2505-8261","url":null,"abstract":"<p><p>The objective is to give an update on the current state of research on the genetics of primary headache in children and adolescents. Investigations of the genetics of migraine in adults have changed our understanding of the pathophysiology of migraine, but knowledge from our adult patients cannot be directly applied to pediatric patients. The study was conducted through searches of PubMed and Web of Science. Our search yielded 10 studies. Some of the included studies elucidated correlations between certain characteristics of the headaches in parents and an elevated risk of headache in their children. The follow-up studies found that about one-third of the participants were headache-free at the time of follow-up and about one in four had shifted to a different headache diagnosis. All studies included in this paper found a familial aggregation or heritability of primary headache in children and adolescents.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Prevalence of Migraine in Children Diagnosed with Familial Mediterranean Fever.","authors":"Yiğithan Güzin, Safa Mete Dağdaş, Gamze Sarıkaya Uzan, Mügen Baykan, Pınar Gençpınar, Figen Baydan, Berk Özyılmaz, Gizem Doğan, Belde Kasap Demir, Nihal Olgaç Dündar","doi":"10.1055/a-2509-0278","DOIUrl":"https://doi.org/10.1055/a-2509-0278","url":null,"abstract":"<p><strong>Purpose: </strong> Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever and serositis, caused by mutations in the <i>MEFV</i> gene. Inflammatory pathways associated with FMF are linked to increased proinflammatory cytokines, which may be related to primary headaches, including migraine. The aim of this study was to evaluate the frequency of migraine and other primary headaches in FMF patients.</p><p><strong>Methods: </strong> In this retrospective study, the medical records of FMF patients were analyzed. Demographic data, <i>MEFV</i> gene mutations, and headache histories were collected. The frequency of migraine was compared among patients with these mutations, and statistical analyses were conducted.</p><p><strong>Results: </strong> The study included 148 FMF patients, comprising 56.1% females and 43.9% males, with a mean age of 11.3 ± 3.7 years. A family history of FMF was reported in 77.7% of patients, and 35.8% had a family history of migraine. Headaches were reported in 52.7% of patients: 24.3% non-specific, 15.5% tension-type, and 12.8% migraine. Of those with migraine, 8.1% had migraine with aura, and 4.7% without aura. Headaches were more frequently frontal in patients under 12 years of age and temporal in those aged ≥12 years (<i>p</i> = 0.011). The most common genetic mutations were M694V heterozygous and homozygous, with M694V and E148Q mutations linked to more frequent migraines, although not statistically significant.</p><p><strong>Conclusion: </strong> FMF patients should be screened for primary headaches, particularly migraine. The high frequency of migraine observed in this study suggests that clinicians should particularly consider migraine as a diagnosis in headache episodes experienced by FMF patients.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of Genotype Differences on Cardiac Involvement in Cases Diagnosed with Duchenne Muscular Dystrophy.","authors":"Gizem Doğan, Gamze Sarıkaya Uzan, Yiğithan Güzin, Figen Baydan, Kayı Eliacık, Barıs Güven, Ali Rahmi Bakiler","doi":"10.1055/a-2505-8310","DOIUrl":"https://doi.org/10.1055/a-2505-8310","url":null,"abstract":"<p><strong>Aim: </strong> Duchenne muscular dystrophy (DMD) is the most frequently seen muscular disease in childhood. Cardiac involvement is extremely important in terms of morbidity and mortality in these patients. Different studies have shown that mutations occurring in various exons are cardioprotective or increase cardiac involvement in DMD cases. The aim of this study was to examine the effect of genotype differences on cardiac involvement in patients diagnosed with DMD with genetic analysis.</p><p><strong>Material and method: </strong> A retrospective analysis of DMD patients followed up in the Muscle Diseases Centre of Health Sciences University Izmir Tepecik Training and Research Hospital was done.</p><p><strong>Results: </strong> Evaluation was made of 120 male DMD patients with a mean age of 9.66 ± 5.10 years. According to the genetic analysis results, 76.7% deletions, 15.8% mutations, and 7.5% duplications were determined. Of the mutations determined, 65.8% were between exons 44 and 54, 17.5% between exons 1 and 18, and 9.2% between exons 19 and 43, 5.8% were non-sense mutations, and 1.7% were on exons >54. In the cases determined with cardiac involvement, the mean age of onset was 11.87 ± 3.11 years. When ejection fraction (EF) <56% or fractional shortening (FS) <28% was accepted as systolic dysfunction cardiac effect, 12.5% of the cases were determined with cardiac involvement. Of the cases determined with cardiac effects, 86.7% were aged >10 years. Electrocardiography was evaluated as normal in 54.5%, sinus tachycardia in 24.2%, short PR in 15.2%, and right and left ventricle hypertrophy in 8.1%. No statistically significant difference was determined in mutation types and location according to the age of cardiac involvement. The left ventricle (LV) posterior wall thickness value determined in the exon 44-54 group was higher than in DMD cases with other mutations. Although not statistically significant, an important result was that the LV posterior wall and IVSed values were evaluated to be high.</p><p><strong>Conclusion: </strong> The current study results and findings in literature have not found a clear relationship between genotypes and cardiac involvement in DMD cases.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142979468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.","authors":"Özlem Ünal Uzun, Müge Çınar, Meral Bahar İster, Merve Eşgi, Bülent Kara, Özge Serçe Pehlevan","doi":"10.1055/a-2505-8378","DOIUrl":"10.1055/a-2505-8378","url":null,"abstract":"<p><p>Rhabdomyolysis is a potentially life-threatening condition in pediatric patients, often triggered by various factors, such as infections, trauma, hereditary metabolic disorders, and certain medications. Elevated creatine kinase levels are commonly observed in newborns and are often attributed to factors such as hypoxia, labor dystocia, and birth trauma. However, rhabdomyolysis in this population is rare and typically associated with hereditary metabolic disorders, medications, or infections. In this report, we describe the case of a neonate diagnosed with very long-chain acyl-CoA dehydrogenase deficiency after markedly elevated creatine kinase levels and rhabdomyolysis were identified during the neonatal period. Additionally, we suggested a guideline for the evaluation of creatine kinase elevation and rhabdomyolysis in neonates.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142864969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Swallowing Assessment in a Pediatric Case of Allan-Herndon-Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing.","authors":"Nina Scholtes, Evelyn Jelesch, Paul Diesener, Johannes C Stoffels, Thomas M K Völkl","doi":"10.1055/a-2502-6417","DOIUrl":"10.1055/a-2502-6417","url":null,"abstract":"<p><p>Patients with MCT8 deficiency often present with underweight and are prone to frequent pulmonary infections, including aspiration pneumonia. Despite commonly reported swallowing difficulties in this population, specific dysphagia symptoms have not been well-documented. We conducted a flexible endoscopic evaluation of swallowing (FEES) on a young boy diagnosed with MCT8 deficiency, who exhibited recurrent pulmonary infections and failed to achieve substantial weight gain despite an oral energy intake appropriate for his age and height. The FEES revealed generally weakened swallowing mechanisms, characterized by prolonged swallow and cough sequences, along with penetration and aspiration of both fluid and semi-solid test boluses. Given the considerable effort associated with oral intake, we hypothesize that dysphagia contributes to his underweight status, alongside peripheral thyrotoxicosis. In conclusion, FEES proved to be an invaluable tool in identifying underlying swallowing impairments and assessing the need for gastrostomy in this patient. For MCT8 deficiency, patients presenting with underweight, frequent pulmonary infections, and swallowing difficulties, it is recommended that diagnostic evaluations include FEES to thoroughly assess their swallowing function and airway protection.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142838152","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between CACNA1A and ATP1A2 Variants are Responsible for Severe Neurodevelopmental Disorder.","authors":"Charlotte Mouraux, Serpil Alkan, Jean-Hubert Caberg, Frédérique Depierreux","doi":"10.1055/a-2500-7729","DOIUrl":"10.1055/a-2500-7729","url":null,"abstract":"<p><p><i>ATP1A2</i> and <i>CACNA1A</i> genes encode proteins forming transmembrane channels, Na⁺/K⁺/ATPase transporter, and voltage-gated calcium channels, respectively. Pathogenic variants in these genes are associated with hemiplegic migraines, movement disorders, and developmental and epileptic encephalopathy.We report a child presenting epileptic encephalopathy with cognitive and behavioral troubles. He carries a likely pathogenic variant in the <i>ATP1A2</i> gene, inherited from his mother who presents hemiplegic migraines, and a variant of uncertain significance in the <i>CACNA1A</i> gene, inherited from his asymptomatic father and also found in his brother, who presents a milder neurodevelopmental disorder (NDD). No other significant copy number or single nucleotide variations were identified after an in-depth genetic study including whole exome sequencing, array comparative genomic hybridization, and screening for Fragile X and Prader-Willi/Angelman syndromes.We illustrate the synergetic impact of <i>ATP1A2</i> and <i>CACNA1A</i> genes in NDDs.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142818791","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Onasemnogene Abeparvovec is Safe in Hemolytic Disease of the Newborn: A Case Report.","authors":"Momen Almomen, Maher L Edoussouki, Shaikhah Aldossary, Tasneem Atawi","doi":"10.1055/a-2491-2141","DOIUrl":"https://doi.org/10.1055/a-2491-2141","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disease caused by Survival Motor Protein 1 (<i>SMN1</i>) gene mutations. Classically divided into three types, SMA is characterized by hypotonia, weakness, and tongue fasciculation in the first 6 months of life in type 1, inability to walk and limb weakness in type 2, and failure to run with proximal weakness in type 3 SMA. With the advent of newborn screening, treating presymptomatic patients with Onasemnogene abeparvovec (OA) is the treatment of choice in some centers worldwide. The incidence of jaundice is high in this age group, with no recommendation to guide the use of OA in newborns with jaundice. To our knowledge, treating an SMA patient with alloimmune hemolytic disease of the newborn (HDN), a relatively common disease in the newborn period, has never been reported in the past. We report our experience with dosing a presymptomatic child with SMA who had neonatal jaundice and hemolytic anemia due to hemolytic disease of the newborn who tolerated the treatment well. To our knowledge, this is the first case to report the safety of this novel treatment for an SMA patient with alloimmune HDN.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142847038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}