Neuropediatrics最新文献_第10页

Starfield Pattern on Brain MRI in a Patient with Duchenne Muscular Dystrophy. 杜氏肌肉萎缩症患者脑部核磁共振成像上的星场模式。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2023-08-02 DOI: 10.1055/a-2146-6989

Vivien X Xie, Dana Harrar, Jonathan Murnick, Diana Bharucha-Goebel, Kuntal Sen

引用次数: 0

Mapping the Current Research on Mindfulness Interventions for Individuals with Cerebral Palsy: A Scoping Review. 绘制当前针对脑瘫患者的正念干预研究图：范围审查。

IF 1.1 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2024-01-05 DOI: 10.1055/a-2239-1936

Roberto Tedeschi

{"title":"Mapping the Current Research on Mindfulness Interventions for Individuals with Cerebral Palsy: A Scoping Review.","authors":"Roberto Tedeschi","doi":"10.1055/a-2239-1936","DOIUrl":"10.1055/a-2239-1936","url":null,"abstract":"Cerebral palsy (CP) is a chronic neurological disorder that can cause motor and cognitive disabilities. Mindfulness is a form of meditation that has gained attention as a potential therapeutic intervention for improving the health and well-being of patients with CP. Four databases were searched until January 2023. A scoping review was conducted to explore the role of mindfulness in the management of CP by reviewing the available scientific literature. Studies that examined the effects of mindfulness on motor function, communication, and quality of life in patients with CP were analyzed. The gray literature and reference lists of included articles were not identified. The results were presented in numerical and thematic forms. From an initial pool of 30 registered studies, only 3 met the inclusion criteria. These selected studies reported positive effects of mindfulness interventions on communication abilities and stress management in patients with CP. The available evidence suggests that mindfulness may have beneficial effects on motor function, communication, and quality of life in patients with CP. The findings of this review highlight the potential of mindfulness as a complementary therapy for improving the health and well-being of patients with CP.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"77-82"},"PeriodicalIF":1.1,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139106462","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}

引用次数: 0

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2024-02-16 DOI: 10.1055/s-0044-1779613

Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi

{"title":"PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.","authors":"Annalisa Saracino, Martina Totaro, Davide Politano, Valentina DE Giorgis, Simone Gana, Grazia Papalia, Anna Pichiecchio, Massimo Plumari, Elisa Rognone, Costanza Varesio, Simona Orcesi","doi":"10.1055/s-0044-1779613","DOIUrl":"10.1055/s-0044-1779613","url":null,"abstract":"PGAP2 gene has been known to be the cause of \"hyperphosphatasia, mental retardation syndrome-3\" (HPMRS3). To date, 14 pathogenic variants in PGAP2 have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical series with pan-ethnic distribution. We aim to present a pediatric PGAP2-mutated case, intending to further expand the clinical phenotype of the syndrome and to report our experience on a therapeutic approach to drug-resistant epilepsy.We present the clinical, neuroradiological, and genetic characterization of a Caucasian pediatric subject with biallelic pathogenic variants in the PGAP2 gene revealed by next generation sequencing analysis.We identified a subject who presented with global developmental delay and visual impairment. Brain magnetic resonance imaging showed mild hypoplasia of the inferior cerebellar vermis and corpus callosum and mild white matter reduction. Laboratory investigations detected an increase in alkaline phosphatase. At the age of 13 months, he began to present epileptic focal seizures with impaired awareness, which did not respond to various antiseizure medications. Electroencephalogram (EEG) showed progressive background activity disorganization and multifocal epileptic abnormalities. Treatment with high-dose pyridoxine showed partial benefit, but the persistence of seizures and the lack of EEG amelioration prompted us to introduce ketogenic diet treatment.Our case provides a further phenotypical expansion of HPMRS3 to include developmental and epileptic encephalopathy. Due to the limited number of patients reported so far, the full delineation of the clinical spectrum of HPMRS3 and indications for precision medicine would benefit from the description of new cases and their follow-up evaluations.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"129-134"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139747169","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}

引用次数: 0

Factors Associated with Respiratory Insufficiency in Children with Guillain-Barré Syndrome. 格林-巴利综合征患儿呼吸功能不全的相关因素。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2024-01-22 DOI: 10.1055/s-0043-1777767

Rui-di Sun, Jun Jiang, Xiao-Long Deng

{"title":"Factors Associated with Respiratory Insufficiency in Children with Guillain-Barré Syndrome.","authors":"Rui-di Sun, Jun Jiang, Xiao-Long Deng","doi":"10.1055/s-0043-1777767","DOIUrl":"10.1055/s-0043-1777767","url":null,"abstract":"Objective: The risk factors for respiratory insufficiency in children with Guillain-Barré syndrome (GBS) are poorly known. This study aimed to investigate the factors associated with respiratory insufficiency in children with GBS.Methods: This retrospective study included children diagnosed with GBS by pediatric neurologists and admitted at the Wuhan Children's Hospital and other hospitals from January 2013 to October 2022. The patients were divided into the respiratory insufficiency and nonrespiratory insufficiency groups according to whether they received assist breathing during treatment.Results: The median (interquartile range) age of onset of 103 patients were 5 (3.1-8.5) years, 69 (67%) were male, and 64 (62.1%) had a history of precursor infection. Compared with the nonrespiratory insufficiency group, the respiratory insufficiency group showed more facial and/or bulbar weakness (p = 0.002), a higher Hughes Functional Grading Scale (HFGS) at admission (p < 0.001), and a shorter onset-to-admission interval (p = 0.017). Compared with the acute motor axonal neuropathy (AMAN) subtype, the acute inflammatory demyelinating polyneuropathy (AIDP) subtype showed longer days from onset to lumbar (p = 0.000), lower HFGS at admission (p = 0.04), longer onset-to-admission interval (p = 0.001), and more cranial nerve involvement (p = 0.04). The incidence of respiratory insufficiency between AIDP and AMAN showed no statistical difference (p > 0.05).Conclusion: In conclusion, facial and/or bulbar weakness, HFGS at admission, and onset-to-admission interval were associated with respiratory insufficiency and might be useful prognostic markers in children with GBS.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"112-116"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10940050/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139521061","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}

引用次数: 0

ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease. 两名德国儿科患者的ACOX1功能获得变异，其中一例模拟自身免疫性炎症性疾病。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2023-10-16 DOI: 10.1055/s-0043-1776013

Charlotte Thiels, Thomas Lücke, Tobias Rothoeft, Carsten Lukas, Huu P Nguyen, Juergen-Christoph von Kleist-Retzow, Holger Prokisch, Mona Grimmel, Tobias B Haack, Sabine Hoffjan

{"title":"ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease.","authors":"Charlotte Thiels, Thomas Lücke, Tobias Rothoeft, Carsten Lukas, Huu P Nguyen, Juergen-Christoph von Kleist-Retzow, Holger Prokisch, Mona Grimmel, Tobias B Haack, Sabine Hoffjan","doi":"10.1055/s-0043-1776013","DOIUrl":"10.1055/s-0043-1776013","url":null,"abstract":"Mitchell syndrome is a very rare genetic disorder due to a specific de novo gain-of-function variant in acyl-CoA oxidase 1 (ACOX1). So far, only five patients with this disease have been described worldwide. We present here two additional unrelated German patients found to carry the same heterozygous ACOX1 N237S variant through exome sequencing (ES). Both patients showed neurodegenerative clinical features starting from ∼4 to 5 years of age including progressive hearing loss, ataxia, ichthyosis, as well as progressive visual impairment leading to amaurosis, and died at the ages of 16 and 8 years, respectively. The first patient was clinically suspected to have anti-myelin oligodendrocyte glycoprotein-antibody-associated myelitis, but the disease course overall deteriorated despite extensive immunomodulatory therapy. The second patient was originally suspected to have a mitochondrial disorder due to intermittent elevated blood lactate. Since Mitchell syndrome has only been identified in 2020, the diagnosis in this second patient was only established through re-evaluation of ES data years after the original analysis. Comparison of all seven reported patients suggests that Mitchell syndrome often (but not always) clinically mimics autoimmune-inflammatory disease. Therefore, in patients with autoimmune central nervous system disease who do not respond adequately to standard therapies, re-evaluation of this diagnosis is needed and genetic analyses such as trio ES should be considered.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"140-145"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41237244","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}

引用次数: 0

Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis: A Case of Polyautoimmunity. 肾小管间质性肾炎和葡萄膜炎（TINU）综合征与中枢神经系统小血管炎之间的关联。多自身免疫病例？

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2024-01-05 DOI: 10.1055/a-2239-1678

Lev Grinstein, Laura Hecher, Deike Weiss, Jessika Johannsen, Jonas Denecke

{"title":"Association between Tubulointerstitial Nephritis and Uveitis Syndrome and Small-Vessel CNS Vasculitis: A Case of Polyautoimmunity.","authors":"Lev Grinstein, Laura Hecher, Deike Weiss, Jessika Johannsen, Jonas Denecke","doi":"10.1055/a-2239-1678","DOIUrl":"10.1055/a-2239-1678","url":null,"abstract":"Introduction: We report a case study of two male pediatric patients presenting with anterior uveitis and elevated renal function parameters. Both were diagnosed with tubulointerstitial nephritis and uveitis syndrome and subsequently developed diffuse cerebral symptoms such as headache, fatigue, and diziness.Methods: Magnetic resonance images (MRIs) of the brain showed T2-hyperintense lesions with and without gadolinium enhancement leading to brain biopsy and diagnosis of small-vessel central nervous system (CNS) vasculitis in both cases. Both patients were treated according to BrainWorks small-vessel vasculitis protocol and symptoms vanished over the course of treatment. Follow-up MRIs up to 12 months after initiation of therapy showed no signs of recurrence indicating a monophasic disease.Conclusion: Small-vessel CNS vasculitis can occur simultaneously to other autoimmune diseases (ADs) in the scope of polyautoimmunity. As clinical findings of CNS vasculitis are often unspecific, neurological symptoms in nonneurological ADs should be adressed thoroughly. Under suspicion of small-vessel CNS vasculitis brain biopsy is still the gold standard and only secure way of definitive diagnosis.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"117-123"},"PeriodicalIF":1.4,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139106460","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}

引用次数: 0

Cogan's Lid Twitch Sign in a Child with Congenital Myasthenia. 一名先天性肌无力患儿的科根眼睑抽搐征象

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-04-01 Epub Date: 2024-01-16 DOI: 10.1055/s-0043-1778649

Sujatha Manjunathan, Pradeep Kumar Gunasekaran, Veena Laxmi, Ashna Kumar, Lokesh Saini

引用次数: 0

A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism. 一名患有智力障碍、全身性癫痫和青少年帕金森病的患者的同基因 PTRHD1 缺义变异（p.Arg122Gln）。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-02-12 DOI: 10.1055/s-0044-1779274

Johannes Gebert, Theresa Brunet, Matias Wagner, Jakob Rath, Susanne Aull-Watschinger, Ekaterina Pataraia, Martin Krenn

引用次数: 0

Differences in Tic Severity Among Adolescent Girls and Boys with Tourette Syndrome During the Pandemic. 图雷特综合征青少年男女患者在大流行期间抽搐严重程度的差异。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-02-01 Epub Date: 2023-02-21 DOI: 10.1055/a-2039-4425

Travis R Larsh, Steve W Wu, David A Huddleston, Tara D Lipps, Donald L Gilbert

{"title":"Differences in Tic Severity Among Adolescent Girls and Boys with Tourette Syndrome During the Pandemic.","authors":"Travis R Larsh, Steve W Wu, David A Huddleston, Tara D Lipps, Donald L Gilbert","doi":"10.1055/a-2039-4425","DOIUrl":"10.1055/a-2039-4425","url":null,"abstract":"Limited data are available regarding the impact of the coronavirus disease 2019 (COVID-19) pandemic on adolescents with Tourette syndrome (TS). We sought to compare sex differences in tic severity experienced by adolescents before and during the COVID-19 pandemic. We extracted from the electronic health record and retrospectively reviewed Yale Global Tic Severity Scores (YGTSS) from adolescents (ages 13 through 17) with TS presenting to our clinic before (36 months) and during (24 months) the pandemic. A total of 373 unique adolescent patient encounters (prepandemic: 199; pandemic: 173) were identified. Compared with prepandemic, girls accounted for a significantly greater proportion of visits during the pandemic (p < 0.001). Prepandemic, tic severity did not differ between girls and boys. During the pandemic, compared with girls, boys had less clinically severe tics (p = 0.003). During the pandemic, older girls, but not boys, had less clinically severe tics (ρ =- 0.32, p = 0.003). These findings provide evidence that, regarding tic severity assessed with YGTSS, the experiences of adolescent girls and boys with TS have differed during the pandemic.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"67-70"},"PeriodicalIF":1.4,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9170797","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}

引用次数: 0

Executive Function Assessment in 2-Year-Olds Born Preterm. 早产 2 岁儿童的执行功能评估。

IF 1.4 4区医学

Neuropediatrics Pub Date : 2024-02-01 Epub Date: 2023-01-31 DOI: 10.1055/a-2023-9280

Astrid Van den Brande, Bieke Bollen, Bart Boets, Gunnar Naulaers, Els Ortibus

{"title":"Executive Function Assessment in 2-Year-Olds Born Preterm.","authors":"Astrid Van den Brande, Bieke Bollen, Bart Boets, Gunnar Naulaers, Els Ortibus","doi":"10.1055/a-2023-9280","DOIUrl":"10.1055/a-2023-9280","url":null,"abstract":"Objective: Our objective was to investigate the executive function and its relationship with gestational age, sex, maternal education, and neurodevelopmental outcome at 2 years corrected age in children born preterm.Method: Executive function was assessed by means of the Multisearch Multilocation Task (MSML), Reversed Categorization Task (RevCat), and Snack Delay Task (SDT). Infant and maternal characteristics were gathered from the child's record. The developmental outcome was measured by the Bayley Scales and a multidisciplinary risk evaluation for autism.Results: The executive function battery was completed by 97 children. The majority were able to successfully complete the MSML and SDT but failed RevCat. The lower the gestational age and the maternal education, the lower the executive function scores. Better cognition and motor function, as well as low autism risk, were associated with better executive function scores. Executive function was not related to sex.Interpretation: This cohort study provides evidence that it is feasible to assess executive function in 2-year-olds born preterm. Executive function is related to gestational age and maternal education and is positively correlated with behavioral outcome. Therefore, executive functions can be a valuable target for early intervention, resulting in improvements in neurodevelopmental outcomes in children born preterm.","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"16-22"},"PeriodicalIF":1.4,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10855632","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}

引用次数: 0