Pub Date : 2025-05-01Epub Date: 2025-04-15DOI: 10.1016/j.ejpn.2025.03.016
Nicole I. Wolf , Marjo S. van der Knaap , Marc Engelen
Leukodystrophies, a group of genetic disorders primarily affecting brain white matter, were once considered untreatable. Advances in MRI and genetic diagnostics now allow most patients to receive a genetic diagnosis, and emerging treatments are shifting the field from therapeutic nihilism to cautious optimism. Allogenic haematopoietic stem cell transplantation (HSCT), used since the 1980s, has shown efficacy in specific leukodystrophies, such as adrenoleukodystrophy and metachromatic leukodystrophy, when administered early. Gene therapy has become a viable option, with ex vivo approaches like atidarsagene autotemcel providing promising outcomes for early-onset MLD. Trials for gene replacement and antisense oligonucleotide therapies are ongoing for several leukodystrophies, including Canavan disease and Alexander disease. Certain treatments, such as guanabenz for Vanishing White Matter, target disease-specific dysregulated molecular pathways. Despite these advances, challenges remain, including the ultrarare nature of most leukodystrophies, limited natural history data, high treatment costs, and barriers to accessibility. Future developments, including newborn screening and close international collaboration, aim to enhance early diagnosis, refine treatment timing, and expand access to innovative therapies.
{"title":"Treatment of leukodystrophies: Advances and challenges","authors":"Nicole I. Wolf , Marjo S. van der Knaap , Marc Engelen","doi":"10.1016/j.ejpn.2025.03.016","DOIUrl":"10.1016/j.ejpn.2025.03.016","url":null,"abstract":"<div><div>Leukodystrophies, a group of genetic disorders primarily affecting brain white matter, were once considered untreatable. Advances in MRI and genetic diagnostics now allow most patients to receive a genetic diagnosis, and emerging treatments are shifting the field from therapeutic nihilism to cautious optimism. Allogenic haematopoietic stem cell transplantation (HSCT), used since the 1980s, has shown efficacy in specific leukodystrophies, such as adrenoleukodystrophy and metachromatic leukodystrophy, when administered early. Gene therapy has become a viable option, with ex vivo approaches like atidarsagene autotemcel providing promising outcomes for early-onset MLD. Trials for gene replacement and antisense oligonucleotide therapies are ongoing for several leukodystrophies, including Canavan disease and Alexander disease. Certain treatments, such as guanabenz for Vanishing White Matter, target disease-specific dysregulated molecular pathways. Despite these advances, challenges remain, including the ultrarare nature of most leukodystrophies, limited natural history data, high treatment costs, and barriers to accessibility. Future developments, including newborn screening and close international collaboration, aim to enhance early diagnosis, refine treatment timing, and expand access to innovative therapies.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 46-50"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865018","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}
Pub Date : 2025-05-01Epub Date: 2025-04-24DOI: 10.1016/j.ejpn.2025.04.014
R. van Heurck , E.B. Hammar , D. Ville , S. Lebon , N. Chatron , C. Marconi , B. Royer-Bertrand , G. Lesca , A. Superti-Furga , M. Abramowicz , C. Korff
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 SCN1A. 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).
{"title":"Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy","authors":"R. van Heurck , E.B. Hammar , D. Ville , S. Lebon , N. Chatron , C. Marconi , B. Royer-Bertrand , G. Lesca , A. Superti-Furga , M. Abramowicz , 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}
knowledge about lasting effects of continuous intrathecal baclofen (CITB) therapy during development into adulthood in non-ambulant individuals with cerebral palsy (CP) is limited.
Aim
we assessed individual goals including ease of care, pain reduction, at long term. Also, we aimed to gauge burden of CITB through hospitalization rates, orthopedic surgeries, pump-related complications, pump refills, and satisfaction levels among individuals and caregivers.
Methods
a prospective cohort of 17 individuals with CP (pump implantation 2002–2005) was assessed in 2022. Visual Analogue Scale (VAS) scores, Child Health Questionnaire Parent Form-50 (CHQ-PF50), and a Likert-scale questionnaire, were employed. Data was gathered through interviews with individuals or caregivers.
Results
fifteen individuals were alive at initial follow-up (mean age 31.8 years). Statistically significant improvements in VAS scores for individual goals, ease of care, and pain observed six months post-therapy initiation persisted into adulthood. Mental health and change in health decreased back to baseline at long-term follow-up, other domains of quality in life did not differ significantly. Treatment-related hospital admission was one per 3.6 years, of which 13.2 % were due to complications. The number of patients with scoliosis increased during the years. Despite, the majority (80 %) expressed continued preference for CITB treatment.
Conclusion
improvements of CITB on domains of body function, activities and social participation, and quality of life persist into adulthood. Although there are some side effects of CITB therapy, both patients and their caregivers report high satisfaction.
{"title":"From childhood to adulthood: Long-term assessment of continuous intrathecal baclofen therapy in non-ambulant spastic cerebral palsy","authors":"B.H.M. Martens , M. Iskander , D.L. Soudant , G.F. Vles , L.A. Bonouvrié , O.P.M. Teernstra , J.S.H. Vles , R.J. Vermeulen","doi":"10.1016/j.ejpn.2025.04.002","DOIUrl":"10.1016/j.ejpn.2025.04.002","url":null,"abstract":"<div><h3>Background</h3><div>knowledge about lasting effects of continuous intrathecal baclofen (CITB) therapy during development into adulthood in non-ambulant individuals with cerebral palsy (CP) is limited.</div></div><div><h3>Aim</h3><div>we assessed individual goals including ease of care, pain reduction, at long term. Also, we aimed to gauge burden of CITB through hospitalization rates, orthopedic surgeries, pump-related complications, pump refills, and satisfaction levels among individuals and caregivers.</div></div><div><h3>Methods</h3><div>a prospective cohort of 17 individuals with CP (pump implantation 2002–2005) was assessed in 2022. Visual Analogue Scale (VAS) scores, Child Health Questionnaire Parent Form-50 (CHQ-PF50), and a Likert-scale questionnaire, were employed. Data was gathered through interviews with individuals or caregivers.</div></div><div><h3>Results</h3><div>fifteen individuals were alive at initial follow-up (mean age 31.8 years). Statistically significant improvements in VAS scores for individual goals, ease of care, and pain observed six months post-therapy initiation persisted into adulthood. Mental health and change in health decreased back to baseline at long-term follow-up, other domains of quality in life did not differ significantly. Treatment-related hospital admission was one per 3.6 years, of which 13.2 % were due to complications. The number of patients with scoliosis increased during the years. Despite, the majority (80 %) expressed continued preference for CITB treatment.</div></div><div><h3>Conclusion</h3><div>improvements of CITB on domains of body function, activities and social participation, and quality of life persist into adulthood. Although there are some side effects of CITB therapy, both patients and their caregivers report high satisfaction.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 17-23"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834406","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}
Pub Date : 2025-05-01Epub Date: 2025-04-12DOI: 10.1016/j.ejpn.2025.03.015
Itay Tokatly Latzer , Phillip L. Pearl
γ-aminobutyric acid (GABA) serves as the main inhibitory cortical neurotransmitter and is involved in crucial functions of neural circuitry affecting cognition, communication, movement, behavior, and the seizure threshold. GABAergic neurons and interneurons contribute to essential aspects of cortical dynamic organization and regulatory processes and mediate aspects of synaptic development. Inherited metabolic disorders affecting the metabolic pathways of GABA, its transport, and its receptors lead to a wide array of neurodevelopmental manifestations. Presentation typically ensues at early ages but could occur later in life and range in severity. This group of disorders warrants increased suspicion, as their early identification and management may lead to clinical improvement and shorten the diagnostic odyssey often associated with affected individuals. We provide an overview of the scientific basis, clinical presentation, and ongoing therapeutic advances of the main disorders of GABA metabolism stemming from deficiencies of succinic semialdehyde dehydrogenase (SSADH), GABA-transaminase, GABA transporter, and GABA receptor subunits.
{"title":"Update on inherited disorders of GABA metabolism","authors":"Itay Tokatly Latzer , Phillip L. Pearl","doi":"10.1016/j.ejpn.2025.03.015","DOIUrl":"10.1016/j.ejpn.2025.03.015","url":null,"abstract":"<div><div>γ-aminobutyric acid (GABA) serves as the main inhibitory cortical neurotransmitter and is involved in crucial functions of neural circuitry affecting cognition, communication, movement, behavior, and the seizure threshold. GABAergic neurons and interneurons contribute to essential aspects of cortical dynamic organization and regulatory processes and mediate aspects of synaptic development. Inherited metabolic disorders affecting the metabolic pathways of GABA, its transport, and its receptors lead to a wide array of neurodevelopmental manifestations. Presentation typically ensues at early ages but could occur later in life and range in severity. This group of disorders warrants increased suspicion, as their early identification and management may lead to clinical improvement and shorten the diagnostic odyssey often associated with affected individuals. We provide an overview of the scientific basis, clinical presentation, and ongoing therapeutic advances of the main disorders of GABA metabolism stemming from deficiencies of succinic semialdehyde dehydrogenase (SSADH), GABA-transaminase, GABA transporter, and GABA receptor subunits.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 10-16"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143834407","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}
Pub Date : 2025-05-01Epub Date: 2025-04-24DOI: 10.1016/j.ejpn.2025.03.017
Ulrike Mütze, Svenja Scharré, Elena Schnabel-Besson, Oya Kuseyri Hübschmann, Friederike Höster, Ali Tunҫ Tuncel, Stefan Kölker, Thomas Opladen
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.
{"title":"Newborn screening for neuro-metabolic disorders: Strategies, clinical benefits, and prerequisites for program expansion","authors":"Ulrike Mütze, Svenja Scharré, Elena Schnabel-Besson, Oya Kuseyri Hübschmann, Friederike Höster, Ali Tunҫ Tuncel, Stefan Kölker, 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 B<sub>12</sub>) deficiency, urea cycle disorders, tetrahydrobiopterin (BH<sub>4</sub>) 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}
Pub Date : 2025-05-01Epub Date: 2025-05-05DOI: 10.1016/j.ejpn.2025.05.003
Michal Gafner , Efrat Hadi , Leila Haddad , Liat Gindes , William B Dobyns , Tally Lerman-Sagie
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.
{"title":"Disruptive lesions can cause developmental anomalies in the fetal brain: Mini-review","authors":"Michal Gafner , Efrat Hadi , Leila Haddad , Liat Gindes , William B Dobyns , 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}
Pub Date : 2025-05-01Epub Date: 2025-03-22DOI: 10.1016/j.ejpn.2025.03.010
Bettina C. Henzi , Dominique Baumann , Eleftheria Michalopoulou , Sarah J. Erni , Leonie Steiner , Nadine Lötscher , Anne Tscherter , Andrea Klein
Quality of life in Duchenne muscular dystrophy has been reported to be negatively affected by the lack of qualifying education and the lack of opportunities for participation in leisure activities. Two thirds of patients with Duchenne muscular dystrophy have cognitive and/or psychiatric problems. Thus, we conducted a survey study on mobility, school problems, executive functions, social participation and quality of life in young patients in Switzerland.
We contacted 60 male patients with Duchenne muscular dystrophy aged 8–18 years through the Swiss Registry for Neuromuscular Disorders. Mobility, school problems and social participation in leisure activities were assessed with a self-constructed questionnaire. Quality of life and executive function were assessed using KIDSCREEN-10 and BRIEF scores, respectively.
Out of 60 dispatched surveys, 67 % were filled out and included. Approximately half of the participants went to a special needs school, and 83 % rated their overall quality of life as good. We did not find a correlation between mobility and quality of life, whereas more social participation was correlated with higher quality of life. Furthermore, patients with more difficulties in executive functions showed less participation and lower quality of life.
These results underline the need for neuropsychological and adapted assistance in patients with Duchenne muscular dystrophy to facilitate education and social participation.
{"title":"Education and participation in children and adolescents with Duchenne muscular dystrophy in Switzerland","authors":"Bettina C. Henzi , Dominique Baumann , Eleftheria Michalopoulou , Sarah J. Erni , Leonie Steiner , Nadine Lötscher , Anne Tscherter , Andrea Klein","doi":"10.1016/j.ejpn.2025.03.010","DOIUrl":"10.1016/j.ejpn.2025.03.010","url":null,"abstract":"<div><div>Quality of life in Duchenne muscular dystrophy has been reported to be negatively affected by the lack of qualifying education and the lack of opportunities for participation in leisure activities. Two thirds of patients with Duchenne muscular dystrophy have cognitive and/or psychiatric problems. Thus, we conducted a survey study on mobility, school problems, executive functions, social participation and quality of life in young patients in Switzerland.</div><div>We contacted 60 male patients with Duchenne muscular dystrophy aged 8–18 years through the Swiss Registry for Neuromuscular Disorders. Mobility, school problems and social participation in leisure activities were assessed with a self-constructed questionnaire. Quality of life and executive function were assessed using KIDSCREEN-10 and BRIEF scores, respectively.</div><div>Out of 60 dispatched surveys, 67 % were filled out and included. Approximately half of the participants went to a special needs school, and 83 % rated their overall quality of life as good. We did not find a correlation between mobility and quality of life, whereas more social participation was correlated with higher quality of life. Furthermore, patients with more difficulties in executive functions showed less participation and lower quality of life.</div><div>These results underline the need for neuropsychological and adapted assistance in patients with Duchenne muscular dystrophy to facilitate education and social participation.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"56 ","pages":"Pages 107-114"},"PeriodicalIF":2.3,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143928277","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}
Pub Date : 2025-03-01Epub Date: 2025-04-17DOI: 10.1016/j.ejpn.2025.04.007
Thomas Rossor , Ming Lim
{"title":"Tumefactive demyelinating lesions: navigating the many faces of mimicry","authors":"Thomas Rossor , Ming Lim","doi":"10.1016/j.ejpn.2025.04.007","DOIUrl":"10.1016/j.ejpn.2025.04.007","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Page A1"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891403","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}
Pub Date : 2025-03-01Epub Date: 2025-04-12DOI: 10.1016/j.ejpn.2025.04.006
William Whitehouse
{"title":"Bilateral Greater Occipital Nerve injections could be useful in migraine status presenting to paediatric emergency departments","authors":"William Whitehouse","doi":"10.1016/j.ejpn.2025.04.006","DOIUrl":"10.1016/j.ejpn.2025.04.006","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Page A2"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143891404","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}
To determine whether pulmonary hypertension (PH) is associated with higher risk of adverse neurodevelopmental outcome at age 5 in a population-based cohort of 22–31+6 preterm children.
Study design
In the EPIPAGE-2 French prospective population-based cohort of preterm children born in 2011, the neurodevelopmental outcome of children with PH was collected at 5 years. The primary outcome was a composite measure with four levels of neurodevelopmental disabilities: severe, moderate, mild, no disability, based on cerebral palsy, visual, hearing or cognitive deficiencies, behavioral difficulties and developmental coordination disorders. Secondary outcomes were autism spectrum disorders and school attendance. Missing data were multiply imputed. Developmental measures were compared using generalized estimating equations models.
Results
Of the 3007 eligible children, 1825 were analyzed, of whom 79 (4.3 %) were PH+. At age 5, 36.9 % (95 % CI, 26.0–47.8) of PH + children had moderate to severe overall neurodevelopmental disabilities compared with 17.9 % (95 % CI, 16.1–19.8) of PH–children, P < 0.001. Significant differences at 5 years between the PH+ and PH– groups were observed for cerebral palsy (CP) (6 % versus 2.3 % for severe CP, P = 0.003), cognitive deficiency (31.7 % versus 15.0 %, P < 0.001) and developmental coordination disorders (27.1 % versus 11.7 %, P < 0.001). There were no significant differences in behavioral difficulties and autism spectrum disorders. Normal school was attended by 69.2 % of PH + children versus 88.3 % of PH– children.
Conclusion
In this nationwide population-based cohort of extremely preterm and very preterm infants, moderate to severe overall neurodevelopmental disability at age 5 was significantly associated with neonatal PH.
{"title":"Neurodevelopmental outcomes at age 5 years among children born very preterm and surviving after persistent pulmonary hypertension of the newborn: EPIPAGE-2 cohort study","authors":"Sophie Breinig , Virginie Ehlinger , Jean-Christophe Rozé , Laurent Storme , Xavier Durrmeyer , Gilles Cambonie , Lionel Berthomieu , Valérie Benhammou , Geraldine Gascoin , Pierre-Yves Ancel , Catherine Arnaud","doi":"10.1016/j.ejpn.2025.03.007","DOIUrl":"10.1016/j.ejpn.2025.03.007","url":null,"abstract":"<div><h3>Objective</h3><div>To determine whether pulmonary hypertension (PH) is associated with higher risk of adverse neurodevelopmental outcome at age 5 in a population-based cohort of 22–31<sup>+6</sup> preterm children.</div></div><div><h3>Study design</h3><div>In the EPIPAGE-2 French prospective population-based cohort of preterm children born in 2011, the neurodevelopmental outcome of children with PH was collected at 5 years. The primary outcome was a composite measure with four levels of neurodevelopmental disabilities: severe, moderate, mild, no disability, based on cerebral palsy, visual, hearing or cognitive deficiencies, behavioral difficulties and developmental coordination disorders. Secondary outcomes were autism spectrum disorders and school attendance. Missing data were multiply imputed. Developmental measures were compared using generalized estimating equations models.</div></div><div><h3>Results</h3><div>Of the 3007 eligible children, 1825 were analyzed, of whom 79 (4.3 %) were PH+. At age 5, 36.9 % (95 % CI, 26.0–47.8) of PH + children had moderate to severe overall neurodevelopmental disabilities compared with 17.9 % (95 % CI, 16.1–19.8) of PH<strong>–</strong>children, P < 0.001. Significant differences at 5 years between the PH+ and PH<strong>–</strong> groups were observed for cerebral palsy (CP) (6 % versus 2.3 % for severe CP, P = 0.003), cognitive deficiency (31.7 % versus 15.0 %, P < 0.001) and developmental coordination disorders (27.1 % versus 11.7 %, P < 0.001). There were no significant differences in behavioral difficulties and autism spectrum disorders. Normal school was attended by 69.2 % of PH + children versus 88.3 % of PH<strong>–</strong> children.</div></div><div><h3>Conclusion</h3><div>In this nationwide population-based cohort of extremely preterm and very preterm infants, moderate to severe overall neurodevelopmental disability at age 5 was significantly associated with neonatal PH.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"55 ","pages":"Pages 103-110"},"PeriodicalIF":2.3,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143783061","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}
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