Neuropediatrics最新文献

{"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":"204-207"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","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":"Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex.","authors":"Jianqing Cao, Meilin Liu, Tianyan Zhang, Hongling Chen, Zhanli Liu","doi":"10.1055/a-2541-8540","DOIUrl":"10.1055/a-2541-8540","url":null,"abstract":"<p><p>To identify and evaluate risk factors for psychiatric disorders in pediatric patients with tuberous sclerosis complex (TSC).We recruited 121 children with TSC from the Hangzhou Children's Hospital between April 2021 and December 2023. Four clinical psychiatric scales were used to screen and diagnose the psychiatric comorbidities of TSC: the autism behavior checklist, the SNAP-IV scale, and the self-rating anxiety and depression scales. Risk factors related to each psychiatric disorder were analyzed using univariate and multivariate regression analyses.Comorbid psychiatric disorders were found in 70 (57.85%) children: 51 (42.15%) cases had autism spectrum disorder (ASD), 49 (40.50%) cases had attention-deficit hyperactivity disorder (ADHD), 17 (14.05%) cases had anxiety, and 14 (11.57%) cases had depression. Uni- and multivariate logistic regression analysis revealed that seizure frequency (>1/month; OR = 6.206, <i>P</i> = 0.021), use of anti-seizure medications (≥ 2 types; OR = 118.869, <i>P</i> = 0.003), infantile spasms (OR = 25.748, <i>P</i> = 0.000), ADHD (OR = 11.170, <i>P</i> = 0.001), and intellectual disability (OR = 32.131, <i>P</i> = 0.001) were risk factors for TSC children with ASD; ASD was the only risk factor for occurrence of ADHD (OR = 7.302, <i>P</i> = 0.022). Seizure duration (≥ 2 years; OR = 56.200, <i>P</i> = 0.036) and seizure frequency (>1/month; OR = 25.855, <i>P</i> = 0.027) were closely related to occurrence of anxiety and/or depression disorders in pediatric patients with TSC.The study results showed that psychiatric comorbidities of children with TSC had a high incidence and risk factors. The study provides new insights into the diagnosis and treatment of comorbid psychiatric disorders in pediatric patients with TSC.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"172-179"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567802","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":"Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note.","authors":"Maria Abel, Manfred Kudernatsch, Sergey Persits, Christina Onyinzo, Thomas Herberhold, Till Hartlieb, Gerhard Kluger, Steffen Berweck","doi":"10.1055/a-2541-8620","DOIUrl":"10.1055/a-2541-8620","url":null,"abstract":"<p><p>The spinal application of intrathecal baclofen (ITB) has been commonly used as treatment for severe dystonia as well spasticity. However, in rare cases, the use of ITB is not possible or ineffective. Therefore, intraventricular application of baclofen (IVB) mostly using endoscopic navigation has been rarely performed over the last years. As a valid alternative, we introduced navigated frameless stereotaxy for intraventricular catheter placement as the most minimally invasive approach feasible.We retrospectively report on surgical technique, clinical outcome, and long-term complications in all pediatric patients with severe generalized dystonia who received IVB using navigated frameless stereotaxy between April 2009 and June 2021 at our institution.Twenty patients (median age: 13 years; range: 2-23 years) were treated with IVB. Dystonia improved in 19/20 patients at the time of discharge (median 51 days; range 2-93 weeks). During the follow-up period (median: 19 months; range: 3-83 months), there was a total of five surgery-associated complications including 3/20 pump infections and 2/20 intraventricular catheter dislocations.This study reveals that navigated frameless catheter positioning in IVB therapy of generalized dystonia is a comparatively low risk and effective surgical procedure.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"180-184"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143567801","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":"Genetics and Inflammation: New Perspectives on Migraine in Childhood and Adolescence.","authors":"Michaela V Bonfert","doi":"10.1055/a-2570-7889","DOIUrl":"https://doi.org/10.1055/a-2570-7889","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":"56 3","pages":"151"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024727","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":"208-212"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","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":"First Evidence-Based Guideline for Interventions in FASD.","authors":"Sonja Strieker, Florian Heinen, Annika Ziegler, Christine Schmucker, Ina Kopp, Mirjam N Landgraf","doi":"10.1055/a-2547-4610","DOIUrl":"10.1055/a-2547-4610","url":null,"abstract":"<p><p>Prenatal alcohol exposure causes disruptions in brain development. The resulting disorder, fetal alcohol spectrum disorder (FASD), cannot be cured, but interventions can help improve the daily functioning of affected children and adolescents and the quality of life for the entire family.The aim of the German guideline version 2024 is to provide validated and evidence-based recommendations on interventions for children and adolescents with FASD.We searched for international guidelines and performed a systematic literature review and a hand search to identify literature (published 2012-2022) on interventions for children (0-18 years) with FASD. The quality of the literature was assessed for predefined outcomes using the GRADE method (grading of recommendations, assessment, development, and evaluation). We established a multidisciplinary guideline group, consisting of 15 professional societies, a patient support group, and 10 additional experts in the field. The group agreed on recommendations for interventions based on the systematic review of the literature and formulated additional recommendations, based on clinical experience/expert evidence in a formal consensus process.No international guideline focusing on interventions for patients with FASD was found. Thirty-two publications (4 systematic reviews and 28 original articles) were evaluated. The analysis resulted in 21 evidence-based recommendations and 26 expert consensus, covering the following topics: neuropsychological functioning, adverse effects of therapy, complications/secondary conditions, quality of life, caregiver burden, knowledge of FASD, and coping and self-efficacy.The German guideline is the first internationally to provide evidence-based recommendations for interventions in children and adolescents with FASD.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"160-171"},"PeriodicalIF":1.1,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12068929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143524020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Difficulties in Emotion Regulation and Psychiatric Symptoms in Adolescents Diagnosed with Migraine: A Case-Control Study.","authors":"Gülsüm Yitik Tonkaz, Şeyda Arslan, Gökhan Tonkaz, Ali Çakir, Serdar Saritaş, Aysun Hacer Saritaş","doi":"10.1055/a-2595-0501","DOIUrl":"https://doi.org/10.1055/a-2595-0501","url":null,"abstract":"<p><p>This study aims to evaluate difficulties in emotion regulation and accompanying psychiatric symptoms in adolescents diagnosed with migraine.The study included 30 adolescents aged 12 to 18 years diagnosed with migraine and 30 age- and sex-matched healthy controls. Participants were assessed using the Difficulties in Emotion Regulation Scale (DERS-16), the Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA), and the Revised Child Anxiety and Depression Scale (RCADS). Additionally, parents completed the Strengths and Difficulties Questionnaire (SDQ).Adolescents with migraine showed significantly greater difficulties in emotion regulation (DERS-16 total score, <i>t</i> = 3.521, <i>p</i> = 0.026, effect size = 0.64) and higher levels of depression, generalized anxiety and social anxiety (RCADS score <i>t</i> = 4.328, effect size = 1.32, <i>p</i> < 0.01; <i>t</i> = 2.354, effect size = 0.59, <i>p</i> = 0.022; <i>t</i> = 3.363, effect size = 1.12, <i>p</i> < 0.01, respectively) compared to controls. Parental assessments indicated higher internalizing and total difficulty scores in the migraine group (SDQ score <i>z</i> = 2.633, effect size = 048, <i>p</i> = 0.008; <i>t</i> = 2.419, effect size = 032, <i>p</i> = 0.016; <i>t</i> = 2.095, effect size = 029, <i>p</i> = 0.036, respectively). However, there were no significant group differences in the use of emotion regulation strategies (ERQ-CA score <i>t</i> = -0.236, <i>p</i> = 0.814; <i>t</i> = -0.957, <i>p</i> = 0.104, respectively).This study highlights the psychological and emotional difficulties experienced by adolescents with migraine, emphasizing the importance of early psychiatric evaluation and psychotherapeutic interventions aimed at improving emotion regulation skills and psychosocial interventions focusing on lifestyle modifications as part of comprehensive migraine management. Limitations include the cross-sectional design, reliance on self-report measures, and modest sample size, which may limit generalizability. Future longitudinal and neurobiologically informed research is needed to clarify causal relationships and intervention targets.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009637","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":"Oculogyric Crisis and Criss-Cross Gait of GLUT1 Deficiency Syndrome.","authors":"Ashna Kumar, Pradeep Kumar Gunasekaran, Veena Laxmi, Sujatha Manjunathan, Lokesh Saini","doi":"10.1055/a-2580-0048","DOIUrl":"https://doi.org/10.1055/a-2580-0048","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036783","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":"Central Vestibular Syndrome in Leber Hereditary Optic Neuropathy \"Plus\".","authors":"Gianluca D'Onofrio, Julie Dery, Aristides Hadjinicolaou","doi":"10.1055/a-2579-9997","DOIUrl":"https://doi.org/10.1055/a-2579-9997","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":""},"PeriodicalIF":1.1,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032614","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":"Adrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation.","authors":"Ruonan Gao, Xiao Cheng, Liang Huang, Rong Luo, Linan Zeng, Guo Cheng, Qin Yu, Hailong Li, Lingli Zhang","doi":"10.1055/a-2517-7800","DOIUrl":"10.1055/a-2517-7800","url":null,"abstract":"<p><strong>Background: </strong>Infantile epileptic spasms syndrome (IESS) is the most common epileptic encephalopathy in infancy and early childhood. At present, adrenocorticotropic hormone (ACTH) and prednisolone are commonly used as drug treatment regimens for IESS. However, evidence of efficacy and economics remains controversial. This study aimed to evaluate the effectiveness, safety, and economy of ACTH and prednisolone of IESS.</p><p><strong>Methods: </strong>Seven literature databases and two clinical trial registration platforms were searched, and a meta-analysis was conducted. From the perspective of the health care system, a 14-day economic evaluation was conducted. The rate of spasm cessation on the 14th day was used as the effect index. The univariate sensitivity analysis was used to verify the robustness of the results.</p><p><strong>Results: </strong>Nine randomized controlled trials (RCTs) were included. Current clinical evidence is not sufficient to prove the difference in the rate of spasm cessation on the 14th day (risk ratio [RR] = 1.05, 95% CI 0.86-1.27, <i>p</i> = 0.64) and total adverse event rate (RR = 0.87, 95% CI 0.53-1.42, <i>p</i> = 0.57). ACTH had an advantage in improving electroclinical response on the 14th day (RR = 1.46, 95% CI 1.09-1.96, <i>p</i> = 0.01) and reducing the number of months taken for relapse (mean difference = 1.65, 95% CI 1.01-2.29, <i>p</i> < 0.01). The cost of ACTH and prednisolone was 5,629.19 yuan and 5.56 yuan, respectively. Univariate sensitivity analysis showed the most influential factor was the cost of ACTH.</p><p><strong>Conclusions: </strong>There is insufficient evidence to determine whether ACTH or prednisolone is better in the short-term regimen of IESS. ACTH may have more advantages in improving the long-term outcome of IESS. In China, a prednisolone regimen of IESS has a lower cost within 14 days.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"102-110"},"PeriodicalIF":1.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143123272","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}