European Journal of Paediatric Neurology最新文献

{"title":"Brain morphometry and psychomotor development in children with PCH2A","authors":"Pablo Pretzel ,&nbsp;Antonia Herrmann ,&nbsp;Alice Kuhn ,&nbsp;Anna-Lena Klauser ,&nbsp;Julia Matilainen ,&nbsp;Elias Kellner ,&nbsp;Maren Hackenberg ,&nbsp;Simone Mayer ,&nbsp;Lucia Laugwitz ,&nbsp;Markus Uhl ,&nbsp;Samuel Groeschel ,&nbsp;Wibke G. Janzarik","doi":"10.1016/j.ejpn.2025.04.004","DOIUrl":"10.1016/j.ejpn.2025.04.004","url":null,"abstract":"<div><h3>Introduction</h3><div>Pontocerebellar hypoplasia type 2A (PCH2A) is a rare neurogenetic disease characterized by severe cognitive and motor impairment. This study reports on brain morphometry and psychomotor development of affected children.</div></div><div><h3>Materials and methods</h3><div>We analyzed 78 cerebral MRI datasets of 57 patients with genetically confirmed PCH2A. Volumetric and in-plane measurements were conducted in cerebellum, neocortex and pons. Supratentorial width and width of the anterior horns of the lateral ventricles was used to calculate the Evans index. Caregivers of 65 patients (aged 7 months to 33 years) filled in a survey assessing motor and cognitive development. Developmental status was compared to MRI measurements.</div></div><div><h3>Results</h3><div>In children with PCH2A, cerebellar volume was markedly smaller than in healthy children at birth, with slower increase and stagnation at around 12 months. No cerebellar growth was observed in the cranio-caudal axis. Longitudinal data did not reveal a decrease in cerebellar volume or in-plane measurements. Supratentorial measurements showed progressive microcephaly and a continuous increase of the Evans index, reflecting progressive cerebral atrophy. Patients demonstrated severe cognitive and motor impairments, with developmental regression reported in only a minority. No statistical relationship between brain measurements and cognitive or motor development was observed.</div></div><div><h3>Conclusion</h3><div>MRI in PCH2A patients shows limited cerebellar growth during infancy, especially restricted along the cranio-caudal axis. After infancy, cerebellar volume remains relatively stable. Supratentorial measurements indicate slowly progressive atrophy. Psychomotor development is significantly impaired, but regression is rare.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 58-66"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143888260","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":"Seizures in preterm infants with germinal-matrix-intraventricular hemorrhage (GM-IVH): a retrospective monocentric study on predictors and neurodevelopmental outcome","authors":"Stephanie C. Schüssler ,&nbsp;Anna Paul ,&nbsp;Undine Niederreiter ,&nbsp;Ludger Deiters ,&nbsp;Fabian B. Fahlbusch ,&nbsp;Patrick Morhart ,&nbsp;Regina Trollmann","doi":"10.1016/j.ejpn.2025.04.012","DOIUrl":"10.1016/j.ejpn.2025.04.012","url":null,"abstract":"<div><h3>Aim</h3><div>Germinal-matrix-intraventricular hemorrhage (GM-IVH) is a leading cause of seizures in preterm infants. This study aimed to analyze risk factors associated with seizures and to evaluate neurodevelopmental outcomes in preterm infants with GM-IVH and seizures.</div></div><div><h3>Methods</h3><div>We conducted a retrospective study from 2011 to 2019, identifying preterm infants with GM-IVH grades 2–4 through an electronic patient file system. Seizures were diagnosed based on clinical manifestations and abnormal EEG findings. Infants were grouped by the presence or absence of seizures, and associated comorbidities were compared. Neurodevelopmental follow-up was assessed at two years of age using the Mental Bayley Scales of Infant Development II (BSID-II). Outcomes of infants with seizures were compared to all tested preterm infants with birth weight &lt;1500 g born between 2011 and 2019 (n = 195).</div></div><div><h3>Results</h3><div>A total of 34 preterm infants with GM-IVH grades 2–4 were included. Seizures occurred in 52.9 % of cases. Their occurrence was significantly associated with lower gestational age (mean 28.1 vs. 30 weeks, p = 0.04) and pneumonia (p = 0.003). Infants with seizures had significantly lower BSID-II Mental scores (n = 15) compared to those without seizures (86.3 ± 18.3 vs. 104.9 ± 8.5, p = 0.03). However, as these infants had a lower gestational age, we could not distinguish if they had a poorer outcome because of seizures or because of immaturity.</div></div><div><h3>Conclusion</h3><div>Seizures in preterm infants with GM-IVH were significantly associated with lower gestational age and pneumonia. Infections and inflammation may contribute to seizure development. Larger studies with continuous EEG monitoring are needed to validate these findings.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 51-57"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143887991","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":"Approach to childhood tremors: Insights from a pediatric neurologist","authors":"Pinar Ozbudak,&nbsp;Elif Perihan Oncel,&nbsp;Canan Ustun,&nbsp;Deniz Menderes,&nbsp;Deniz Yuksel","doi":"10.1016/j.ejpn.2025.04.015","DOIUrl":"10.1016/j.ejpn.2025.04.015","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to analyze the demographic, clinical, and therapeutic profiles of pediatric patients diagnosed with tremor at a tertiary neurology outpatient clinic and to identify the most frequently employed therapeutic modalities.</div></div><div><h3>Methods</h3><div>A retrospective analysis was conducted between November 1, 2022, and April 1, 2024. Patients were categorized into etiological groups, including essential tremor, metabolic causes (e.g., vitamin deficiencies and thyroid dysfunction), functional tremor, and other etiologies. Patients diagnosed with essential tremor were further divided based on whether they were prescribed anti-tremor medications, and the groups were compared regarding daily functional abilities.</div></div><div><h3>Results</h3><div>A total of 192 patients were included, of whom 81 (42.1 %) were male. The mean age was 170 months, and the mean tremor duration was 19 months. Essential tremor accounted for 125 cases (65.1 %), while 38 patients (19.7 %) had a metabolic etiology. First-line anti-tremor medication (propranolol) was administered to 58 out of 125 patients (46.4 %), and four patients required second-line therapy (primidone). Between the medicated and non-medicated groups no significant gender differences or difficulty in bringing food to the mouth accurately were observed. However, significant statistical differences were noted in difficulties with drinking water, using a spoon, and handwriting impairments.</div></div><div><h3>Conclusion</h3><div>Childhood tremor is a common clinical condition with diverse etiologies, where treatable causes, especially vitamin deficiencies, play a significant role. Functional impairments, such as difficulty in drinking water, using a spoon, and writing, may serve as key predictors for initiating first-line anti-tremor therapy. Propranolol remains an effective therapeutic option for essential tremor in children.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 74-79"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143903644","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":"Symptomatic management of pediatric dystonia: A call for multidisciplinary, individualized palliative care","authors":"Lindsey M. Vogt MD, MSc ,&nbsp;Darius Ebrahimi-Fakhari MD, PhD","doi":"10.1016/j.ejpn.2025.05.007","DOIUrl":"10.1016/j.ejpn.2025.05.007","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144129437","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: Unraveling the complexities of DEE and movement disorders in young children","authors":"Deborah A. Sival,&nbsp;Suus A.M van Noort","doi":"10.1016/j.ejpn.2025.04.010","DOIUrl":"10.1016/j.ejpn.2025.04.010","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144013450","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":"Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series","authors":"Hyungjin Chin ,&nbsp;Soo Yeon Kim ,&nbsp;Byung Chan Lim ,&nbsp;Jong Hee Chae ,&nbsp;Ki Joong Kim ,&nbsp;Jae So Cho ,&nbsp;Anna Cho ,&nbsp;Hunmin Kim ,&nbsp;Woo Joong Kim","doi":"10.1016/j.ejpn.2025.04.008","DOIUrl":"10.1016/j.ejpn.2025.04.008","url":null,"abstract":"<div><h3>Background</h3><div>New-onset super-refractory status epilepticus (NOSRSE) leads to functional deficits and residual epilepsy. This study aimed to describe pediatric NOSRSE cohort to gain clinical insights of their features.</div></div><div><h3>Methods</h3><div>A retrospective review of children with NOSRSE in 2013–2024 was conducted at two tertiary hospitals. Patient clinical data, including MRI, CSF profile, EEG, and treatments, were collected and reviewed. The primary outcome measure was the modified Rankin scale score (mRS) at 3-month post-seizure.</div></div><div><h3>Results</h3><div>Twenty-three patients with NOSRSE, with a median age of 7.9 years, were included. Twenty-one (91 %) had febrile infection-related epilepsy syndrome (FIRES). The initial cerebrospinal fluid (CSF) profile was normal in five (23 %), pleocytosis was present in nine (39 %), and CSF protein was elevated in 15 (68 %) patients. Initial Brain MRI was normal in 14 (61 %) patients. First- and second-line immunotherapy was delivered to 21 (91 %) and 15 (68 %) patients, respectively. The etiology was viral infection in two (9 %) patients, and presumed cryptogenic in the remaining. The primary outcome was poor (mRS ≥4) in 14 (61 %) patients and all had residual epilepsy. Elevated initial CSF protein levels were associated with poor outcomes. Mental status before treatment, time to immunotherapy, intubation of &gt;2 weeks or tracheostomy, and the duration of anesthetics were also associated with the primary outcome.</div></div><div><h3>Conclusion</h3><div>Most pediatric NOSRSE patients presented as cryptogenic FIRES, with poor long-term outcomes. None of the patients with NOSRSE tested positive for autoimmune antibodies. Many showed permanent MRI changes but did not correlate with outcome. The initial CSF profile may serve as an objective disease severity marker in NOSRSE.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 67-73"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143899154","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":"Quality of life in young adolescents with epilepsy: A case control study","authors":"J. Idowu ,&nbsp;C. Meades ,&nbsp;J.H. Cross ,&nbsp;A. Muggeridge ,&nbsp;M. Lakhanpaul ,&nbsp;K. Robinson ,&nbsp;L.B. Sherar ,&nbsp;N. Pearson ,&nbsp;C. Reilly","doi":"10.1016/j.ejpn.2025.05.005","DOIUrl":"10.1016/j.ejpn.2025.05.005","url":null,"abstract":"<div><h3>Rationale</h3><div>There is limited data comparing quality of life (QOL) in young adolescents with epilepsy with young adolescents without epilepsy. This study aimed to compare self and caregiver rated child quality of life in young adolescents with epilepsy and a matched control group without epilepsy, and to explore factors associated with quality of life in young adolescents with epilepsy.</div></div><div><h3>Method</h3><div>Young adolescents with epilepsy (aged between 11 and 15 years) (n = 60; 25/35 boys/girls), a group of matched controls (n = 49 25/24; boys/girls), and their primary caregivers completed a measure of the child's quality of life (Pediatric Quality of Life Inventory; PedsQL). Comparisons between the epilepsy and control group were undertaken using chi-square analysis and independent t-tests. Linear regression was used to explore factors associated with quality of life in the adolescents with epilepsy. An alpha level of p &lt; 0.05 was used.</div></div><div><h3>Results</h3><div>Adolescents with epilepsy had significantly lower scores on all QoL domains, summary scores and total score of the self-rated PedsQL (all p &lt; 0.001 with exception of physical functioning (p = 0.003)). Adolescents with epilepsy also had significantly lower caregiver rated total QOL with lower scores on all of the PedsQL domains, summary scores, and on the total score (all p &lt; 0.001). Increased adolescent mental health difficulties, increased adolescent motor coordination difficulties, and having had seizures in the week prior to the assessment were associated with reduced quality of life scores on both adolescents and caregiver rated quality of life in the adolescents with epilepsy.</div></div><div><h3>Conclusion</h3><div>Young adolescents with epilepsy have lower QOL on both self- and caregiver report compared to peers without epilepsy. The association with mental health and motor coordination difficulties highlights the need for identification and management of these co-occurring conditions. It is important that resources for identification and management of these difficulties are available in epilepsy clinics to optimise QoL for these adolescents.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 115-120"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143941399","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":"Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy","authors":"R. van Heurck ,&nbsp;E.B. Hammar ,&nbsp;D. Ville ,&nbsp;S. Lebon ,&nbsp;N. Chatron ,&nbsp;C. Marconi ,&nbsp;B. Royer-Bertrand ,&nbsp;G. Lesca ,&nbsp;A. Superti-Furga ,&nbsp;M. Abramowicz ,&nbsp;C. Korff","doi":"10.1016/j.ejpn.2025.04.014","DOIUrl":"10.1016/j.ejpn.2025.04.014","url":null,"abstract":"<div><div>We studied a retrospective cohort of children with developmental and epileptic encephalopathy (DEE), a group of neurological conditions characterized by early onset epilepsy and severe developmental delay. Cases were recruited from three university hospitals based on clinical criteria, after a blinded cross-validation process, and most were subject to both array-CGH and exome-based gene panel analyses. 155 subjects were included. A genetic diagnosis was identified in 105 (68 %). A majority of patients (71 %) had onset of symptoms before the age of one year. In this age group a disease-causing variant was identified in 73 % of children, the highest proportion of cases reported so far. Genetic heterogeneity was high, involving 40 different genes. The most prevalent gene was <em>SCN1A</em>. Eight genes were identified in multiple patients and accounted for 50 % of all diagnoses. The remaining genes represented ultra-rare disorders. In many cases, molecular diagnosis leads to treatment adaptation and allows for genetic counseling. Those results highlight the growing importance of genetic investigations especially in children with symptoms onset before the age of 1. Finally, we evaluated the disease-causing variants in an intention-to-treat approach and found that almost half would theoretically be amenable to personalized therapy using antisense oligonucleotides (ASOs).</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 97-103"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143923385","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":"Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion","authors":"Ulrike Mütze,&nbsp;Svenja Scharré,&nbsp;Elena Schnabel-Besson,&nbsp;Oya Kuseyri Hübschmann,&nbsp;Friederike Höster,&nbsp;Ali Tunҫ Tuncel,&nbsp;Stefan Kölker,&nbsp;Thomas Opladen","doi":"10.1016/j.ejpn.2025.03.017","DOIUrl":"10.1016/j.ejpn.2025.03.017","url":null,"abstract":"<div><div>Newborn screening (NBS) is a successful program of secondary prevention for rare diseases, such as neuro-metabolic diseases, enabling early identification of affected individuals and pre-symptomatic treatment. Driven by innovations in high-throughput sequencing technologies, NBS panels have continued to grow and will probably be extended further in the future. However, implementing NBS for a disease is subject to various preconditions to maximize the benefit for the affected children, while avoiding harm to the screened healthy cohort, their families and the society. Ideally, data on clinical long-term benefit of NBS and early treatment is collected prior to NBS implementation through long-term observational studies and registries. In addition, NBS should be implemented as an iteratively evaluated public health program and the data collection should be accompanied by intra-operable long-term observational studies, ideally extended in international cooperations. In this review, the current expertise in NBS, the screening strategies and possible long-term clinical benefits are presented and discussed for several neuro-metabolic diseases, including propionic acidemia and isolated methylmalonic acidemias, homocystinurias, remethylation defects, acquired cobalamin (vitamin B₁₂) deficiency, urea cycle disorders, tetrahydrobiopterin (BH₄) and primary neurotransmitter disorders, as well as lysosomal storage disorders. Given these prerequisites, several of the neuro-metabolic diseases discussed here might be part of future NBS programs worldwide.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 84-96"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143917448","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":"Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review","authors":"Michal Gafner ,&nbsp;Efrat Hadi ,&nbsp;Leila Haddad ,&nbsp;Liat Gindes ,&nbsp;William B Dobyns ,&nbsp;Tally Lerman-Sagie","doi":"10.1016/j.ejpn.2025.05.003","DOIUrl":"10.1016/j.ejpn.2025.05.003","url":null,"abstract":"<div><div>The development of the fetal central nervous system (CNS) is a complex process influenced by genetic, environmental, and physiological factors. The absence of identifiable genetic variants and low risk of recurrence in families with certain brain malformations has led to the hypothesis that disruptive events may play a critical role in the development of brain malformations. These events include disruption of blood flow, ischemia, hemorrhage, placental insufficiency, prenatal drug exposure (e.g cocaine), and infections (e.g CMV). Likely disruptive anomalies include polymicrogyria (PMG), cerebellar hypoplasia, septo-optic dysplasia (SOD), absent septum pellucidum, and Dandy-Walker malformation (DWM). The timing of these disruptions is expected to reflect the stages of fetal brain development. Understanding the mechanisms behind disruptive-developmental anomalies of the fetal CNS is crucial for improving prenatal screening, counseling strategies, and potential interventions.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 80-83"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143912341","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}