Pediatric neurology最新文献

{"title":"Transition Is Not Enough: How Child Neurologists can Help Improve the Care for Adults With Neurodevelopmental Disabilities","authors":"Jessica Solomon Sanders MD , Julia Frueh MD","doi":"10.1016/j.pediatrneurol.2024.06.006","DOIUrl":"10.1016/j.pediatrneurol.2024.06.006","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 79-80"},"PeriodicalIF":3.2,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141590977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rare Pathogenic Variants Identified in Whole Exome Sequencing of Monozygotic Twins With Autism Spectrum Disorder","authors":"","doi":"10.1016/j.pediatrneurol.2024.06.003","DOIUrl":"10.1016/j.pediatrneurol.2024.06.003","url":null,"abstract":"<div><h3>Background</h3><p>Autism spectrum disorder (ASD) is a childhood-onset complex neurodevelopmental disorder characterized by problems with communication and social interaction and restricted, repetitive, stereotyped behavior. The prevalence of ASD is one in 36 children. The genetic architecture of ASD is complex in spite of its high heritability. To identify the potential candidate genes of ASD, we carried out a comprehensive genetic study of monozygotic (MZ) twins concordant or discordant for ASD.</p></div><div><h3>Methods</h3><p>Five MZ twins and their parents were recruited for the study. Four of the twins were concordant, whereas one was discordant for ASD. Whole exome sequencing was conducted for the twins and their parents. The exome DNA was enriched using Twist Human Customized Core Exome Kit, and paired-end sequencing was performed on HiSeq system.</p></div><div><h3>Results</h3><p>We identified several rare and pathogenic variants (homozygous recessive, compound heterozygous, <em>de novo</em>) in ASD-affected individuals.</p></div><div><h3>Conclusion</h3><p>We report novel variants in individuals diagnosed with ASD. Several of these genes are involved in brain-related functions and not previously reported in ASD. Intriguingly, some of the variants were observed in the genes involved in sensory perception (auditory [<em>MYO15A</em>, <em>PLEC</em>, <em>CDH23</em>, <em>UBR3</em>, <em>GPSM2</em>], olfactory [<em>OR9K2</em>], gustatory [<em>TAS2R31</em>], and visual [<em>CDH23</em>, <em>UBR3</em>]). This is the first comprehensive genetic study of MZ twins in an Indian population. Further validation is required to determine whether these variants are associated with ASD.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 113-123"},"PeriodicalIF":3.2,"publicationDate":"2024-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141389721","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Disproportionality Analysis of Nusinersen in the Food and Drug Administration Adverse Event Reporting System: A Real-World Postmarketing Pharmacovigilance Assessment","authors":"Yanping Li MS ,&nbsp;Ni Zhang MS ,&nbsp;Tingting Jiang MS ,&nbsp;Lanlan Gan MS,&nbsp;Hui Su MS,&nbsp;Yuanlin Wu MS,&nbsp;Xue Yang BS,&nbsp;Guiyuan Xiang MS,&nbsp;Rui Ni PhD,&nbsp;Jing Xu BS,&nbsp;Chen Li BS,&nbsp;Yao Liu PhD","doi":"10.1016/j.pediatrneurol.2024.06.005","DOIUrl":"10.1016/j.pediatrneurol.2024.06.005","url":null,"abstract":"<div><h3>Background</h3><p>Nusinersen is the first drug for precise targeted therapy of spinal muscular atrophy, a rare disease that occurs in one of 10,000 to 20,000 live births. Therefore, thorough and comprehensive reports on the safety of nusinersen in large, real-world populations are necessary. This study aimed to mine the adverse event (AE) signals related to nusinersen through the Food and Drug Administration Adverse Event Reporting System (FAERS) database.</p></div><div><h3>Methods</h3><p>We extracted reports of AEs with nusinersen as the primary suspect from FAERS between December 2016 and March 2023. Reporting odds ratio (ROR) and Bayesian confidence propagation neural network (BCPNN) were used for AE signal detection.</p></div><div><h3>Results</h3><p>We extracted a total of 4807 suspected AE cases with nusinersen as the primary suspect from the FAERS database. Among them, 106 positive signals were obtained using the ROR and BCPNN. The highest frequency reported systemic organ class was general disorders and administration site conditions. Common clinical AEs of nusinersen were detected in the FAERS database, such as pneumonia, vomiting, back pain, headache, pyrexia, and post–lumbar puncture syndrome. In addition, we identified potential unexpected serious AEs through disproportionality analysis, including sepsis, seizure, epilepsy, brain injury, cardiorespiratory arrest, and cardiac arrest.</p></div><div><h3>Conclusions</h3><p>Analyzing large amounts of real-world data from the FAERS database, we identified potential new AEs of nusinersen by disproportionate analysis. It is advantageous for health care professionals and pharmacists to concentrate on effectively managing high-risk AEs of nusinersen, improve medication levels in clinical settings, and uphold patient medication safety.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 71-78"},"PeriodicalIF":3.2,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141402269","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of Oral Trihexyphenidyl Plus Clonazepam Versus Trihexyphenidyl for the Treatment of Dystonia in Children With Dystonic Cerebral Palsy: An Open-Label Randomized Controlled Trial","authors":"Prateek Kumar Panda DM ,&nbsp;Vetoni Moirangthem MD ,&nbsp;Apurva Tomar DM ,&nbsp;Osama Neyaz DNB ,&nbsp;Indar Kumar Sharawat DM","doi":"10.1016/j.pediatrneurol.2024.06.004","DOIUrl":"10.1016/j.pediatrneurol.2024.06.004","url":null,"abstract":"<div><h3>Background</h3><p>Trihexyphenidyl and clonazepam are commonly used to treat dystonia in children with cerebral palsy (CP). However, there is a notable gap in the literature when it comes to studies that combine these first-line agents for the management of dystonia.</p></div><div><h3>Methods</h3><p>This open-label, randomized controlled trial aimed to compare the efficacy of adding oral clonazepam to trihexyphenidyl (THP + CLZ) versus using trihexyphenidyl alone (THP) in reducing the severity of dystonia, as measured by the Barry-Albright Dystonia (BAD) score. The study was conducted over a 12-week therapy period in children with dystonic CP aged two to 14 years.</p></div><div><h3>Results</h3><p>Each group enrolled 51 participants. The THP + CLZ group showed significantly better improvement in dystonia severity at 12 weeks compared with the THP group alone (−4.5 ± 2.9 vs −3.4 ± 1.7, <em>P</em> = 0.02). Furthermore, the THP + CLZ group exhibited superior improvement in the severity of choreoathetosis, upper limb function, pain perception by the child, and quality of life, with <em>P</em> values of 0.02, 0.009, 0.01, and 0.01, respectively. The number of participants experiencing treatment-emergent adverse events was comparable in both groups (<em>P</em> = 0.67). Importantly, none of the participants in any of the groups reported any serious adverse events.</p></div><div><h3>Conclusion</h3><p>A combination of oral THP + CLZ proves to be more efficacious than using THP alone for the treatment of dystonic CP in children aged two to 14 years in terms of reducing the severity of dystonia.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 35-40"},"PeriodicalIF":3.2,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141412808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Editorial Board and Masthead","authors":"","doi":"10.1016/S0887-8994(24)00216-9","DOIUrl":"https://doi.org/10.1016/S0887-8994(24)00216-9","url":null,"abstract":"","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"156 ","pages":"Pages A1-A2"},"PeriodicalIF":3.8,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141314770","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epilepsy as a Novel Phenotype of BPTF-Related Disorders","authors":"Alessandro Ferretti MD ,&nbsp;Margherita Furlan MD ,&nbsp;Kevin E. Glinton MD, PhD ,&nbsp;Christina D. Fenger MSc, PhD ,&nbsp;Felix Boschann MD ,&nbsp;Louise Amlie-Wolf MSc ,&nbsp;Shimriet Zeidler MD, PhD ,&nbsp;Raffaella Moretti MD ,&nbsp;Corinna Stoltenburg MD ,&nbsp;Daniel C. Tarquinio MSc, DO ,&nbsp;Francesca Furia MD ,&nbsp;Pasquale Parisi MD, PhD ,&nbsp;Guido Rubboli MD ,&nbsp;Orrin Devinsky MD ,&nbsp;Cyril Mignot MD, PhD ,&nbsp;Karen W. Gripp MD ,&nbsp;Rikke S. Møller MSc, PhD ,&nbsp;Yaping Yang PhD ,&nbsp;Pawel Stankiewicz MD, PhD ,&nbsp;Elena Gardella MD, PhD","doi":"10.1016/j.pediatrneurol.2024.06.001","DOIUrl":"10.1016/j.pediatrneurol.2024.06.001","url":null,"abstract":"<div><h3>Background</h3><p>Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) is associated to <em>BPTF</em> gene haploinsufficiency. Epilepsy was not included in the initial descriptions of NEDDFL, but emerging evidence indicates that epileptic seizures occur in some affected individuals. This study aims to investigate the electroclinical epilepsy features in individuals with NEDDFL.</p></div><div><h3>Methods</h3><p>We enrolled individuals with <em>BPTF</em>-related seizures or interictal epileptiform discharges (IEDs) on electroencephalography (EEG). Demographic, clinical, genetic, raw EEG, and neuroimaging data as well as response to antiseizure medication were assessed.</p></div><div><h3>Results</h3><p>We studied 11 individuals with a null variant in <em>BPTF</em>, including five previously unpublished ones. Median age at last observation was 9 years (range: 4 to 43 years). Eight individuals had epilepsy, one had a single unprovoked seizure, and two showed IEDs only. Key features included (1) early childhood epilepsy onset (median 4 years, range: 10 months to 7 years), (2) well-organized EEG background (all cases) and brief bursts of spikes and slow waves (50% of individuals), and (3) developmental delay preceding seizure onset. Spectrum of epilepsy severity varied from drug-resistant epilepsy (27%) to isolated IEDs without seizures (18%). Levetiracetam was widely used and reduced seizure frequency in 67% of the cases.</p></div><div><h3>Conclusions</h3><p>Our study provides the first characterization of <em>BPTF</em>-related epilepsy. Early-childhood-onset epilepsy occurs in 19% of subjects, all presenting with a well-organized EEG background associated with generalized interictal epileptiform abnormalities in half of these cases. Drug resistance is rare.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 17-25"},"PeriodicalIF":3.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141406956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients","authors":"Nathalie Smeets MD ,&nbsp;Alexander Gheldof PhD ,&nbsp;Bart Dequeker MSc ,&nbsp;Margaux Poleur MD ,&nbsp;Sofia Maldonado Slootjes MD ,&nbsp;Vinciane Van Parijs MD ,&nbsp;Nicolas Deconinck MD, PhD ,&nbsp;Pauline Dontaine MD ,&nbsp;Alicia Alonso-Jimenez MD, PhD ,&nbsp;Jan De Bleecker MD, PhD ,&nbsp;Willem De Ridder MD, PhD ,&nbsp;Sarah Herdewyn MD, PhD ,&nbsp;Stéphanie Paquay MD ,&nbsp;Arnaud Vanlander MD, PhD ,&nbsp;Liesbeth De Waele MD, PhD ,&nbsp;Geertrui Peirens MD ,&nbsp;Diane Beysen MD, PhD ,&nbsp;Kristl G. Claeys MD, PhD ,&nbsp;Nicolas Dubuisson MD ,&nbsp;Isabelle Hansen MD ,&nbsp;Luc Régal MD","doi":"10.1016/j.pediatrneurol.2024.06.002","DOIUrl":"10.1016/j.pediatrneurol.2024.06.002","url":null,"abstract":"<div><h3>Background</h3><p>Congenital myasthenic syndromes (CMS) are a group of genetic disorders characterized by impaired neuromuscular transmission. CMS typically present at a young age with fatigable muscle weakness, often with an abnormal response after repetitive nerve stimulation (RNS). Pharmacologic treatment can improve symptoms, depending on the underlying defect. Prevalence is likely underestimated. This study reports on patients with CMS followed in Belgium in 2022.</p></div><div><h3>Methods</h3><p>Data were gathered retrospectively from the medical charts. Only likely pathogenic and pathogenic variants were included in the analysis.</p></div><div><h3>Results</h3><p>We identified 37 patients, resulting in an estimated prevalence of 3.19 per 1,000,000. The patients harbored pathogenic variants in <em>CHRNE</em>, <em>RAPSN</em>, <em>DOK7</em>, <em>PREPL</em>, <em>CHRNB1</em>, <em>CHRNG</em>, <em>COLQ</em>, <em>MUSK</em>, <em>CHRND</em>, <em>GFPT1,</em> and <em>GMPPB. CHRNE</em> was the most commonly affected gene. Most patients showed disease onset at birth, during infancy, or during childhood. Symptom onset was at adult age in seven patients, caused by variants in <em>CHRNE</em>, <em>DOK7</em>, <em>MUSK</em>, <em>CHRND,</em> and <em>GMPPB</em>. Severity and distribution of weakness varied, as did the presence of respiratory involvement, feeding problems, and extraneuromuscular manifestations. RNS was performed in 23 patients of whom 18 demonstrated a pathologic decrement. Most treatment responses were predictable based on the genotype.</p></div><div><h3>Conclusions</h3><p>This is the first pooled characterization of patients with CMS in Belgium. We broaden the phenotypical spectrum of pathogenic variants in <em>CHRNE</em> with adult-onset CMS. Systematically documenting larger cohorts of patients with CMS can aid in better clinical characterization and earlier recognition of this rare disease. We emphasize the importance of establishing a molecular genetic diagnosis to tailor treatment choices.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 57-65"},"PeriodicalIF":3.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141408154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency","authors":"Paula Ivarola MD ,&nbsp;Luciano Urdinez MD ,&nbsp;Matias Oleastro MD ,&nbsp;Danila Labonia MD ,&nbsp;Mariana Roizen MD ,&nbsp;Roberto Caraballo MD ,&nbsp;Silvia Tenembaum MD","doi":"10.1016/j.pediatrneurol.2024.05.022","DOIUrl":"10.1016/j.pediatrneurol.2024.05.022","url":null,"abstract":"<div><h3>Background</h3><p>Severe combined immunodeficiency secondary to adenosine deaminase deficiency is rare. The deficiency of this enzyme results in the accumulation of substrates in the tissues, including the brain. Clinical signs of neurological involvement may include seizures, neurodevelopmental disorders, hypotonia, and sensorineural hearing loss. Hematopoietic stem cell transplantation corrects the failure of the immune system but not the neurological involvement.</p></div><div><h3>Objectives</h3><p>To describe the spectrum of neurological complications identified in a series of children with severe combined immunodeficiency due to adenosine deaminase deficiency. Additionally, we propose a neurological approach including electrophysiological, radiological, and neurocognitive studies to address this group of children in an efficient and timely manner.</p></div><div><h3>Methods</h3><p>A descriptive, observational, retro-, and prospective analysis of patients with a confirmed immunological diagnosis seen between 1996 and 2021 and referred to the Department of Neurology for neurological evaluation was conducted.</p></div><div><h3>Results</h3><p>Ten patients met the inclusion criteria. The median age at diagnosis was 4 months (range, 1-36 months). All patients had neurodevelopmental delay with hypotonia in six, language delay in three, sensorineural hearing loss in four, and spastic paraparesis in one patient. Two children developed an epileptic syndrome, consisting of generalized epilepsy in one and focal epilepsy in the other. Neuroimaging showed brain calcifications in the basal ganglia and/or centrum semiovale in four patients and enlarged subarachnoid spaces in two other patients.</p></div><div><h3>Conclusion</h3><p>In this pediatric series, the rate of neurological involvement associated with abnormalities on neuroimaging was high. Although this involvement could be related to accumulation of adenosine metabolites in the central nervous system, the possibility of associated chronic infections should be ruled out. Given the neurological manifestations, it is important to involve the pediatric neurologist in the multidisciplinary follow-up team.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 49-56"},"PeriodicalIF":3.2,"publicationDate":"2024-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141411161","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Memory Consolidation and Sleep in Children With Epilepsy: A Systematic Review","authors":"Sebastian Hoyer MA ,&nbsp;Marie Dietz MS ,&nbsp;Anna-Sophie Ambrosi-Schneider ,&nbsp;Nadashree Krishnasamy ,&nbsp;Claudia Buss Prof. Dr. ,&nbsp;Yee Lee Shing Prof. Dr. ,&nbsp;Angela M. Kaindl Prof. Dr.","doi":"10.1016/j.pediatrneurol.2024.05.020","DOIUrl":"10.1016/j.pediatrneurol.2024.05.020","url":null,"abstract":"<div><h3>Background</h3><p>Sleep is essential in the process of memory consolidation. Children and adolescents with epilepsy hold a significantly higher risk for memory impairment. Understanding the relationship between sleep and memory impairment in adolescents with epilepsy will help us to develop effective support services for this patient population. The present study provides a summary of the current research on the influence of epilepsy-related altered sleep patterns on memory consolidation in children and adolescents with epilepsy. The aim of this systematic review is to investigate the influence of epilepsy-related altered sleep conditions in children and adolescents and their impact on memory performance.</p></div><div><h3>Materials</h3><p>A systematic review was conducted according to the guidelines of Preferred Reporting Items for Systematic Reviews and Meta-Analyses using the search terms \"memory,\" \"sleep,\" \"epilepsy,\" \"children,\" and \"adolescents.\" A total of 4 studies met the inclusion criteria. The review focused on the association of sleep disorders and memory performance in children and adolescents aged up to 21 years without psychiatric comorbidities.</p></div><div><h3>Results</h3><p>The reviewed studies highlight a higher risk of sleep disturbance and lower sleep quality in children with epilepsy in comparison to control groups. Group differences in memory consolidation were found before, but not after one night of sleep. Three studies reported a significant association between sleep and memory performance. Two studies demonstrated an association between nocturnal interictal epileptiform discharges and memory performance in adolescents.</p></div><div><h3>Conclusion</h3><p>Children and adolescents with epilepsy have a higher risk of sleep and memory disorders. Nocturnal interictal epileptiform discharges have been shown to interfere with memory consolidation. Conclusions on underlying mechanisms remain unclear. Further case-control studies addressing sleep and its influence on memory problems in pediatric epilepsy patients are needed.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 66-70"},"PeriodicalIF":3.2,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0887899424002121/pdfft?md5=58acf5d0de2065901e678c56021b2011&pid=1-s2.0-S0887899424002121-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141390353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-Term Disease Course of Pontocerebellar Hypoplasia Type 10","authors":"Serhat Guler MD ,&nbsp;Ayca Dilruba Aslanger MD ,&nbsp;Turkan Uygur Sahin MD ,&nbsp;Alpay Alkan MD ,&nbsp;Cengiz Yalcinkaya MD ,&nbsp;Sema Saltik MD ,&nbsp;Gözde Yesil MD","doi":"10.1016/j.pediatrneurol.2024.05.017","DOIUrl":"10.1016/j.pediatrneurol.2024.05.017","url":null,"abstract":"<div><h3>Background</h3><p>Pontocerebellar hypoplasia type 10 (PCH10) due to CLP1 gene mutations is characterized by structural brain anomalies, progressive microcephaly, severe intellectual and physical disabilities, and spasticity. In this follow-up study, evolution of phenotypic and neurological characteristics of patients with PCH10 is discussed.</p></div><div><h3>Methods</h3><p>Phenotype, growth parameters, motor functions, developmental tests, spasticity assessments, functional independence assessments, electroencephalography (EEG), and brain magnetic resonance imaging (MRI) of 10 patients with PCH10 were monitored on separate examinations. Alterations were recorded.</p></div><div><h3>Results</h3><p>Patients were followed-up for an average of 2.83 years. The tone of the upper extremities was significantly higher than that of the lower extremities, according to Modified Ashworth Scale (MAS) values. Sixty percent of patients could sit unsupported; 20% achieved supported sitting initially but lost the ability during follow-up. Absence of grabbing or sitting was observed in 20% of patients. During follow-up, one person achieved supported sitting and one person achieved head holding. Only one patient was able to speak a few words. Cerebellar atrophy (two of 10), pons hypoplasia (four of 10), cortical atrophy (seven of 10), enlarged ventricles (10 of 10), thinning of the corpus callosum (10 of 10), hypomyelination (six of 10), and increased white matter signal intensity (six of 10) were the observed MRI findings.</p></div><div><h3>Conclusions</h3><p>Progressive cerebral and cerebellar atrophy was demonstrated radiologically for the first time in a PCH10 cohort. It is of crucial importance to identify these patients promptly with the help of dysmorphic findings and spasticity being pronounced in the upper extremities. Furthermore, we note that phenotypic and neurological examination findings tend to change slightly over time.</p></div>","PeriodicalId":19956,"journal":{"name":"Pediatric neurology","volume":"158 ","pages":"Pages 1-10"},"PeriodicalIF":3.2,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141390029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}