Neuropediatrics最新文献

{"title":"Association between Cognitive Abilities before the Age of 3 Years and Those at Least 1 Year Later in Children with Developmental Delay.","authors":"Kwangohk Jun, Donghwi Park, Hyoshin Eo, Seongho Woo, Won Mo Koo, Jong Min Kim, Byung Joo Lee, Min Cheol Chang","doi":"10.1055/a-2349-1256","DOIUrl":"10.1055/a-2349-1256","url":null,"abstract":"<p><strong>Objective: </strong>This study investigated whether early cognitive assessment in children with developmental delay (DD) predicts cognitive development. We investigated the correlation between cognitive and language development in children with DD, cerebral palsy (CP), and autism spectrum disorder (ASD).</p><p><strong>Methods: </strong>Data were collected from children diagnosed with DD who visited the hospital between 2015 and 2023. The assessments included the Korean Bayley Scales of Infant and Toddler Development Second Edition (K-BSID-II) and the Korean Wechsler Preschool Primary Scale of Intelligence Fourth Edition (K-WPPSI-IV). Language development was evaluated using the Sequenced Language Scale for Infants (SELSI) and Preschool Receptive-Expressive Language Scale (PRES). The statistical analysis involved a correlation analysis.</p><p><strong>Results: </strong>Among 95 children in the study, a significant correlation was discovered between early cognitive assessments (the Mental Developmental Index from the K-BSID-II) and later cognitive development (the Full-Scale Intelligence Quotient from the K-WPPSI-IV) in the DD and CP groups, but not in the ASD group. The DD and CP groups exhibited significant correlations in language development between the SELSI and PRES, whereas the ASD group did not.</p><p><strong>Conclusion: </strong>Early cognitive assessments can predict later cognitive development in children with DD and CP, but not in those with ASD, according to this study. There was a strong correlation between language and cognitive development in the DD and CP groups, highlighting the importance of early intervention and assessment for these children. Further investigation is necessary to address these limitations and refine demographic data.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"389-394"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141427365","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":"Assessment and Prognostic Resources for Gross Motor Development in a Child with Cerebral Palsy Related to Congenital Zika Syndrome.","authors":"Paloma A Ventura, Alessandra L de Carvalho, Cristiana M Nascimento-Carvalho","doi":"10.1055/s-0044-1788983","DOIUrl":"10.1055/s-0044-1788983","url":null,"abstract":"<p><p>This article describes how the Gross Motor Ability Estimator (GMAE) software can provide important information based on the Gross Motor Function Measure (GMFM)-66 score of a child with congenital Zika syndrome.A child was assessed at 9, 17, and 25 months of age through the GMFM-66. At 2 years, the child's gross motor ability was estimated and classified according to the Gross Motor Function Classification System (GMFCS).At 2 years of age, the child in this case required assistance to roll and was unable to maintain antigravity trunk posture in sitting position, typical abilities of GMFCS level V.GMAE can be useful to guide health professionals that care for children with lifelong physical and developmental care needs. This is the first study that demonstrated how to use the GMAE in this specific population.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"420-423"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141996227","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":"Fetal, Neonatal and Pediatric Neuroradiology.","authors":"Timor Roser, Marco Paolini","doi":"10.1055/s-0044-1791811","DOIUrl":"10.1055/s-0044-1791811","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":"55 6","pages":"427-428"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142952444","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":"Hamartomas of the Tuber Cinereum Associated with X-Linked Deafness Show Signs of Pubertas Tarda Instead of Pubertas Praecox and No Gelastic Seizures-Long-Term Follow-Up of 12 Years.","authors":"Anja Giesemann, Anja Schöner-Heinisch, Friedrich Götz, Doris Steinemann, Anke Lesinski-Schiedat, Athanasia Warnecke, Heinrich Lanfermann, Hans Hartmann, Katja Döring","doi":"10.1055/s-0044-1788730","DOIUrl":"10.1055/s-0044-1788730","url":null,"abstract":"<p><strong>Purpose: </strong>Hamartomas of tuber cinereum present as ectopic tissue in the hypothalamic region. Clinically, the usual hypothalamic hamartomas manifest themself by gelastic seizures and pubertas praecox. We observed an increased coincidence of the presence of X-linked recessive deafness DFNX2 (DFN3) and a hamartoma of the tuber cinereum. Initially five patients presented with hearing loss in childhood, two additional were already adults, not showing any characteristic symptoms for a hamartoma but signs of delayed puberty.</p><p><strong>Methods: </strong>Seven patients who underwent computed tomography imaging due to a sensorineural hearing loss and had a hamartoma of the tuber cinereum in addition to X-linked deafness DFNX2 (DFN3) were included in a retrospective study. Patients underwent initial neurologic, endocrinologic, and genetic evaluation. Long-term follow-up was performed after 10 to 12 years.</p><p><strong>Results: </strong>The average age at the initial exam was 12.9 years (range 4-29). All patients genetically proven nonsyndromic, X-linked deafness associated with the POU3F4 gene. Three out of six patients presented signs of delayed puberty. None of all seven showed any evidence of pubertas praecox or gelastic seizures at mean age of 17 years (range 17-29 years) at any time.</p><p><strong>Conclusion: </strong>Hamartomas of tuber cinereum are often coincident with DFNX2. Clinically, half of the cases are-in contrary to the usual pubertas praecox-associated with growth hormone deficiency and delayed puberty, in the sense of pubertas tarda, when coincident. Clinicians' and radiologists' knowledge and awareness of this rare combination are crucial to identify children early enough for hormone-sensitive treatment.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"366-374"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141860483","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":"Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.","authors":"Christiane R Proepper, Sofia M Schuetz, Lisa-Maria Schwarz, Katja von Au, Thomas Bast, Nathalie Beaud, Ingo Borggraefe, Friedrich Bosch, Joerg Budde, Melanie Busse, Jena Chung, Otfried Debus, Katharina Diepold, Thomas Fries, Gero von Gersdorff, Martin Haeussler, Andreas Hahn, Till Hartlieb, Ralf Heiming, Peter Herkenrath, Gerhard Kluger, Jonas H Kreth, Gerhard Kurlemann, Peter Moeller, Deborah J Morris-Rosendahl, Axel Panzer, Heike Philippi, Sophia Ruegner, Carolina Toepfer, Silvia Vieker, Adelheid Wiemer-Kruel, Anika Winter, Gerhard Schuierer, Ute Hehr, Tobias Geis","doi":"10.1055/s-0044-1789014","DOIUrl":"10.1055/s-0044-1789014","url":null,"abstract":"<p><strong>Background: </strong>Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (<i>LIS1/PAFAH1B1</i>, <i>DCX</i>, <i>DYNC1H1</i>, <i>TUBA1A</i>, <i>TUBG1</i>) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports.</p><p><strong>Results: </strong>All but two patients were diagnosed with epilepsy. Median age at seizure onset was 6 months (range: 2.1-42.0), starting with epileptic spasms in 70%. Standard treatment protocols with hormonal therapy (ACTH or corticosteroids) and/or vigabatrin were the most effective approach for epileptic spasms, leading to seizure control in 47%. Seizures later in the disease course were most effectively treated with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, resulting in seizure freedom in 20%. Regarding psychomotor development, lissencephaly patients presenting without epileptic spasms were significantly more likely to reach various developmental milestones compared to patients with spasms.</p><p><strong>Conclusion: </strong>Classic lissencephaly is highly associated with drug-resistant epilepsy starting with epileptic spasms in most patients. The standard treatment protocols for infantile epileptic spasms syndrome lead to freedom from seizures in around half of the patients. Due to the association of epileptic spasms with an unfavorable course of psychomotor development, early and reliable diagnosis and treatment of spasms should be pursued. For epilepsies occurring later in childhood, ASM with valproic acid and lamotrigine, followed by vigabatrin and phenobarbital, appears to be most effective.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"410-419"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142110040","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":"Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.","authors":"Mojca Železnik, Tina Vipotnik Vesnaver, David Neubauer, Aneta Soltirovska-Šalamon","doi":"10.1055/a-2321-0597","DOIUrl":"10.1055/a-2321-0597","url":null,"abstract":"<p><p>Aicardi-Goutières syndrome (AGS) is a rare genetic early-onset progressive encephalopathy with variable clinical manifestations. The <i>IFIH1</i> mutation has been confirmed to be responsible for type I interferon production and activation of the Janus kinase signaling pathway. We herein stress neurological observations and neuroimaging findings in a severe case report of an infant with AGS type 7 due to an <i>IFIH1</i> mutation who was diagnosed in the first month of life. We also review neurological characteristics of <i>IFIH1</i> mutations through recent literature.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"337-340"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876861","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":"Dysregulated Apoptosis and Autophagy in Childhood Epilepsy: Correlation to Clinical and Pharmacological Patterns.","authors":"Ahmed El-Abd Ahmed, Mohammed H Hassan, Asmaa A Abdelfatah, Ali Helmi Bakri","doi":"10.1055/s-0044-1788032","DOIUrl":"10.1055/s-0044-1788032","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to assess the serum levels of caspase-3 as a marker of apoptosis and microtubule-associated protein 1A/1B-light chain 3 (MAP1-LC3) as an autophagy marker in epileptic children with various clinical and pharmacological types.</p><p><strong>Methods: </strong>This case-control study was carried out on 90 participants (50 pediatric patients with epilepsy and 40 healthy matched children), the patients were categorized into three groups: Group (A): 25 pharmacosensitive epilepsy, Group (B): 25 pharmacoresistant epilepsy, and Group (C): 40 (age, sex, and body mass index) matched healthy children selected as controls. Serum caspase-3 and MAP1-LC3 were measured in all study groups, using commercially available ELISA kits.</p><p><strong>Results: </strong>Serum caspase-3 was significantly higher among epileptic children, especially in the pharmacoresistant group, cases managed with multiple antiepileptic drugs, and cases with abnormal EEG findings. Conversely, circulating MAP1-LC3 levels showed a significant reduction in epilepsy cases, particularly in pharmacoresistant cases, in cases treated with multiple antiepileptic drugs, and in cases with abnormal EEG data. A significant negative correlation between serum caspase-3 and MAP1-LC3 was found among epileptic children (<i>r</i> =  -0.369, <i>p</i> = 0.0083). Serum caspase-3 was a more valid biomarker in helping diagnose childhood epilepsy, while serum MAP1-LC3 was more valid in predicting pharmacoresistant type.</p><p><strong>Conclusion: </strong>The study reveals that serum caspase-3 levels were significantly elevated, particularly in pharmacoresistant cases and those managed with multiple drugs. Conversely, MAP1-LC3 levels were significantly reduced in epilepsy cases, suggesting potential involvement of altered apoptosis and autophagy in childhood epilepsy.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"327-336"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141534968","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":"Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.","authors":"Berkmis Viana Santos, Josiane de Souza, Michelle Silva Zeny, Mara Lúcia Schmitz Ferreira Santos, Daniel Almeida do Valle","doi":"10.1055/s-0044-1787706","DOIUrl":"10.1055/s-0044-1787706","url":null,"abstract":"<p><strong>Introduction: </strong>Neuronal ceroid lipofuscinoses (CLNs) are a group of lysosomal storage disorders of genetic origin, characterized by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment. Thirteen genes related to CLNs are currently described, showing genetic and allelic heterogeneity, most of them with an autosomal recessive pattern. Due to the few descriptions of cases related to CLNs in Brazil, it is necessary to describe the phenotypic and genotypic characteristics of these patients. This study aims to evaluate the genotypic profile and correlate it with the phenotypic characteristics of patients with CLN in a children's hospital.</p><p><strong>Methods: </strong>This study was performed as a descriptive cross-sectional study with analysis of medical records, imaging, and laboratory tests of patients who had a confirmed molecular diagnosis of CLN.</p><p><strong>Results: </strong>The sample consisted of 11 patients from nine families with different subtypes of CLNs (CLN2, 5, 6, 7, and 8), with CLN2 being the most prevalent in the study. A total of 16 mutation variants were identified in genes associated with the five CLNs described in this study, with typical and atypical clinical phenotypes depending on the subtype and its variants.</p><p><strong>Conclusion: </strong>Novel mutations identified in the patients in this study showed phenotypes of rapid and severe progression in the CLN2 patient and similar characteristics in CLN6 and CLN7 patients, as previously described in the literature.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"303-310"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141301144","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":"Pediatric Autoimmune Encephalitis: A Nationwide Study in Latvia.","authors":"D Pretkalnina, S Grinvalde, E Kalnina","doi":"10.1055/s-0044-1788259","DOIUrl":"10.1055/s-0044-1788259","url":null,"abstract":"<p><strong>Background: </strong>Autoimmune encephalitis (AE) is the third most common encephalitis in children. Diagnosis can be challenging due to overlapping and diverse clinical presentations as well as various investigation results. This study aims to characterize the clinical, diagnostic features, as well as treatment and outcomes of AE in children and determine the incidence of pediatric AE in Latvia.</p><p><strong>Methods: </strong>The study was conducted at the Children's Clinical University Hospital in Riga. The study participants were patients under the age of 18 years diagnosed with AE from 2014 to 2022. Data regarding clinical characteristics, investigation findings, treatment strategy, and outcomes were retrospectively collected from the medical history data system.</p><p><strong>Results: </strong>We included 18 pediatric patients diagnosed with AE. The mean incidence of pediatric AE in Latvia was 0.56 per 100,000 children. Most patients (66.6%) had seronegative AE. In the seropositive group, the most common was anti-methyl-D-aspartate receptor AE, with two patients having other antibodies. The most prevalent clinical features were personality change, cognitive impairment, autonomic dysfunction, and movement disorders. The majority of patients (58.8%) received first-line treatment only. More than half (55.6%) of our AE patient group had long-term sequelae.</p><p><strong>Conclusions: </strong>Our study shows that the pediatric AE incidence in Latvia is similar to what has been previously reported in other studies. A relatively high proportion of seronegative AE was present in our cohort, indicating that awareness of possible misdiagnosis should be raised. Further research is needed to better understand the underlying mechanisms, characterize clinical features, and determine the treatment of choice in different situations to improve long-term outcomes.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"321-326"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141620552","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":"49th Annual Conference of the Society for Neuropediatrics.","authors":"Markus Blankenburg","doi":"10.1055/s-0044-1791805","DOIUrl":"10.1055/s-0044-1791805","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":"55 S 01","pages":"1"},"PeriodicalIF":1.1,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142392194","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}