Neuropediatrics最新文献

{"title":"Olivary Hypertrophy Induced Palatal Myoclonus in a Treated Case of Medulloblastoma.","authors":"Ramandeep Singh, Vikas Lakhanpal, Roshwanth A, Sameer Peer, Arvinder Wander","doi":"10.1055/s-0044-1787745","DOIUrl":"10.1055/s-0044-1787745","url":null,"abstract":"","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"424-426"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141427366","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":"Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan.","authors":"Arshad Khan, Neelam Akbar, Sameen Abbas, Saima Mushtaq, Nafees Ahmad, Amjad Khan","doi":"10.1055/a-2366-8580","DOIUrl":"10.1055/a-2366-8580","url":null,"abstract":"<p><strong>Background: </strong>Hydrocephalus is a neurological disease with higher prevalence in the pediatric population, often managed by placing a shunt. This hollow tube drains excess cerebrospinal fluid from the brain to other body parts, resulting in several complications, including neurological and psychometric manifestations and a compromised quality of life (QoL). This study aimed to evaluate QoL in patients with hydrocephalus shunt placement within the pediatric population.</p><p><strong>Methods: </strong>This prospective observational study was conducted in two major Pakistani tertiary care hospitals. A total of 100 subjects were enrolled, of which 52 were found eligible. A validated questionnaire, Hydrocephalus Outcome Questionnaire, was used to evaluate patients' QoL.</p><p><strong>Results: </strong>This study included pediatric patients with a mean age of 6.54 years and a standard deviation of ± 2.64. The male-to-female ratio was 27:25; 2% of patients had congenital or tumor-induced hydrocephalus, while cases of meningitis, encephalocele, and encephalitis accounted for 8, 4, and 2%, respectively. Myelomeningocele had the highest prevalence at 16%. The overall health scores range from 0.39 to 0.51. Social, cognitive, and physical health scores have mean values of 0.54, 0.50, and 0.48, respectively. The minimum physical health score is 0.17, indicating the most significant impact of hydrocephalus on physical function.</p><p><strong>Conclusion: </strong>This study highlights variations in hydrocephalus severity among pediatric patients, impacting their overall QoL, primarily physical and behavioral functioning. Worse health outcomes were associated with frequent seizures, prolonged hospital stays for diagnosis and treatment, shunt infections, increased number of shunt catheters, and longer travel distances to medical facilities.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"375-381"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141627238","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":"Correlation of Comorbidities and Variability of Tics in Children with Chronic Tic Disorder.","authors":"Ida Jensen, Nanette Marinette Monique Mol Debes","doi":"10.1055/s-0044-1788045","DOIUrl":"10.1055/s-0044-1788045","url":null,"abstract":"<p><strong>Objective: </strong>Chronic tic disorder (CTD) is characterized by the presence of motor and/or phonic tics, and is often accompanied by comorbidities, where obsessive-compulsive disorder (OCD) and attention deficit hyperactivity disorder (ADHD) are the most predominant. The aim of this study was to investigate a correlation between comorbidities and variability of tics in children with CTD.</p><p><strong>Method: </strong>A cross-sectional study was completed on a clinical cohort recruited from the Danish National Tourette Clinic at Herlev Hospital. The cohort consisted of 167 children who were examined by the Yale Global Tic Severity Scale. Data regarding comorbidity were collected on 152 of these patients by using validated diagnostic instruments, and the patients were divided into four subgroups: CTD-only, CTD + ADHD, CTD + OCD, and CTD + ADHD + OCD.</p><p><strong>Results: </strong>The comorbidity subgroups had significantly higher severity, impairment, and Total Tic Scores compared to the CTD-only group (<i>p-</i>value ≤ 0.001, 0.001, 0.003, respectively). The assessment of the association between variability of tics and comorbidities showed a significantly higher Simple Phonic Tic Score in the CTD + OCD group compared to the CTD-only group (<i>p-</i>value = 0.003).</p><p><strong>Conclusion: </strong>This study showed significantly higher Simple Phonic Tic Scores in the CTD + OCD group compared to the CTD-only group, which suggests that awareness of the variability of tics in patients with CTD and comorbidities is important.Total Tic Scores, severity of tics, and impairment were significantly higher in the comorbidity subgroups compared to the CTD-only group, which support findings from previous studies.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"382-388"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590931","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 Role of Electroencephalography in Children with Acute Altered Mental Status of Unknown Etiology: A Prospective Study.","authors":"Daniela Chiarello, Annalisa Perrone, Emilia Ricci, Giulia Ferrera, Francesca Duranti, Silvia Bonetti, Valentina Marchiani, Anna Fetta, Marcello Lanari, Duccio Maria Cordelli","doi":"10.1055/a-2380-6743","DOIUrl":"10.1055/a-2380-6743","url":null,"abstract":"<p><strong>Introduction: </strong>Acute altered mental status (AAMS) is often a challenge for clinicians, since the underlying etiologies cannot always easily be inferred based on the patient's clinical presentation, medical history, or early examinations. The aim of this study is to evaluate the role of electroencephalogram (EEG) as a diagnostic tool in AAMS of unknown etiology in children.</p><p><strong>Materials and methods: </strong>We conducted a prospective study involving EEG assessments on children presenting with AAMS between May 2017 and October 2019. Inclusion criteria were age 1 month to 18 years and acute (<1 week) and persistent (>5 minutes) altered mental status. Patients with a known etiology of AAMS were excluded. A literature review was also performed.</p><p><strong>Results: </strong>Twenty patients (median age: 7.7 years, range: 0.5-15.4) were enrolled. EEG contributed to the diagnosis in 14/20 cases, and was classified as diagnostic in 9/20 and informative in 5/20. Specifically, EEG was able to identify nonconvulsive status epilepticus (NCSE) in five children and psychogenic events in four. EEG proved to be a poorly informative diagnostic tool at AAMS onset in six children; however, in five of them, it proved useful during follow-up.</p><p><strong>Conclusions: </strong>Limited data exist regarding the role of EEG in children with AAMS of unknown etiology. In our population, EEG proved to be valuable tool, and was especially useful in the prompt identification of NCSE and psychogenic events.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"395-409"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897915","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":"Comparative Analysis of Supratentorial Intraventricular Tumors in Adults and Pediatrics in a Developing Country: Clinicopathological Features, Surgical Management, and Outcomes.","authors":"Sandeep Mishra, Saurav Mishra, Sabina Regmi, Varidh Katiyar, Satish Verma, Guru Dutt Satyarthee, Kanwaljeet Garg, Shashwat Mishra, M C Sharma, ManMohan Singh, Shashank Sharad Kale","doi":"10.1055/s-0044-1788661","DOIUrl":"10.1055/s-0044-1788661","url":null,"abstract":"<p><strong>Background: </strong>Supratentorial intraventricular tumors, encompassing lateral and third ventricular tumors, are uncommon intracranial neoplasms, typically slow-growing and benign, manifesting symptoms only upon reaching a substantial size. This study aims to identify optimal surgical approaches, assess the prevalence and characteristics of these tumors, and evaluate postoperative outcomes among pediatric and adult age groups.</p><p><strong>Methods: </strong>A retrospective comparative study at a tertiary care hospital from January 2014 to June 2020 included 165 patients (68 pediatrics, 97 adults) meeting inclusion criteria for intraventricular tumor management. Data covered demographic factors, clinical history, neurological assessments, neuroimaging, surgical approaches, histopathological diagnoses, immunohistochemical features, adjuvant therapies, follow-up status, postoperative complications, and morbidity/mortality.</p><p><strong>Results: </strong>Ventricular tumor incidence showed male preponderance in both adults (M:F = 1.2:1) and pediatrics (M:F = 3:1). Lateral ventricles were the most common location. Pediatric cases exhibited more frequent calcifications on computed tomography scans (35.6% vs. 29.5%). Grade II and III tumors were more prevalent in adults within the lateral ventricle (27.1 and 1.9%) compared with pediatrics (6.5 and 8.4%). The third ventricle predominantly featured benign lesions, with pediatric patients experiencing significantly longer hospital stays (16.12 ± 21.94 days vs. 9.58 ± 6.21 days) (<i>p</i> = 0.006). Adults and pediatric patients showed a significant difference in high-grade lateral ventricle tumors (<i>p</i>-value = 0.002*).</p><p><strong>Conclusions: </strong>Supratentorial ventricular tumors are relatively more prevalent in children than adults, presenting challenges due to size and bleeding risks. Surgical resection is the primary treatment, with a focus on the optimal approach for gross total excision to reduce recurrence risk.</p>","PeriodicalId":19421,"journal":{"name":"Neuropediatrics","volume":" ","pages":"356-365"},"PeriodicalIF":1.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141792922","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 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":"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":"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":"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}