European Journal of Paediatric Neurology最新文献

{"title":"N-Acetyl-leucine in progressive CACNA1A ataxia: A case series","authors":"K. Martakis ,&nbsp;M. Giorgi ,&nbsp;M. Spanou ,&nbsp;B.A. Neubauer ,&nbsp;A. Dinopoulos ,&nbsp;A. Hahn","doi":"10.1016/j.ejpn.2024.12.006","DOIUrl":"10.1016/j.ejpn.2024.12.006","url":null,"abstract":"<div><h3>Background</h3><div>CACNA1A-related disorders are rare and progressive; to date, there is no approved treatment. Trials with N-acetyl-leucine (NAL) demonstrated efficacy in disorders featuring ataxia, cognitive impairment, and epilepsy. Accordingly, we hypothesized that NAL may be effective in CACNA1A-associated disorders.</div></div><div><h3>Cases</h3><div>Four patients (1 boy, age 15 years, 3 girls, age 5, 9, and 14) received NAL as individualized off-label treatment and were assessed using the SARA Score, SCAFI and CGI-I. In all children NAL resulted in rapid improvement of ataxia, (gait, balance, fine motor and speech - mean SARA improvement at first follow-up: 3.25 points). Improvement was sustained up to 3 years (mean long-term SARA improvement: 5.13 points). SCAFI and CGI-I showed similar improvement. NAL was well-tolerated, without adverse reactions.</div></div><div><h3>Conclusions</h3><div>N-acetyl-leucine is a novel potential treatment for a so far untreatable rare disease spectrum of CACNA1A-disorders. The sustained benefit may reflect neuroprotective effects seen in other populations. Clinical trials are needed to control the results.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 64-67"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143099266","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":"Spinal cord stimulation (SCS) induced favorable neuromodulative outcome in the treatment of chronic neuropathic pain syndrome in children","authors":"Nina Barišić ,&nbsp;Jakob Nemir ,&nbsp;Romana Perković ,&nbsp;Manuela Frančić ,&nbsp;Raffaela Lombardi","doi":"10.1016/j.ejpn.2025.02.007","DOIUrl":"10.1016/j.ejpn.2025.02.007","url":null,"abstract":"<div><h3>Background</h3><div>Chronic pharmaco-resistant pain syndrome (CPS) requires different therapeutic approaches based on the underlying pathology. Spinal cord stimulation (SCS) in children with chronic neuropathic pain syndrome (CNPS) has been scarcely reported in the literature.</div></div><div><h3>Objectives</h3><div>To present SCS as the rational treatment approach in children with chronic regional and generalized chronic neuropathic pain syndrome, its efficiency, complications and the role in neuromodulation.</div><div>We present two children with chronic pain syndrome treated with SCS. A 14-year-old girl at the age of 8 manifested with signs of chronic regional pain syndrome (CRPS) type 1 in wrist and afterwards in knee, associated with allodynia, signs of local autonomic dysfunction, trophic changes of the skin, and loss of ambulation. Nerve biopsy showed inflammatory infiltrates and loss of small unmyelinated C in skin biopsy.</div><div>A 17-year-old boy manifested at the age of 9 with clinical signs of acute central (CNS) and peripheral nervous system (PNS) involvement associated with headache, photophobia, ataxia, paraparesis, autonomic dysfunction and intensive generalized global neuropathic pain, especially in the lower extremities. Electromyoneurography (EMNG) at the first exam was compatible with Guillain Barre syndrome and subsequently several times during follow up EMNG and nerve biopsy were compatible with chronic inflammatory demyelinating polyneuropathy (CIDP). Treatment was maintained with i.v. immunoglobulins (IVIG) and steroids without functional improvement.</div><div>In both children functional psychosomatic, orthopedic and rheumatologic causes were excluded including painful genetic neuropathies. Seven and eight years after the onset of symptoms and signs of CPS in both children, epidural SCS was implanted, followed by pain relief up to 100 % with complete recovery of motor function, local skin changes and of intraepidermal nerve fiber density in a girl. A boy became ambulant, 50 % up to 75 % pain control was attained, and only partial recovery of sphincter control.</div></div><div><h3>Conclusion</h3><div>SCS as minimally invasive neurosurgical method may be efficient in resolving chronic pain and in restoring functional abilities of affected extremities. SCS should be considered as a treatment approach in children with chronic regional and generalized (pharmacoresistant) neuropathic pain syndrome resistant to all established treatment modalities.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 186-192"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143438090","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":"Exploring the psychosocial and educational needs of young people with epilepsy and their parents:A systematic review","authors":"Marie Hyland ,&nbsp;Laura Gallagher ,&nbsp;Ann Connolly ,&nbsp;Catherine Comiskey","doi":"10.1016/j.ejpn.2024.11.009","DOIUrl":"10.1016/j.ejpn.2024.11.009","url":null,"abstract":"","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 25-31"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787626","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":"Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: Findings from an Argentine patient cohort","authors":"Leonela Luce ,&nbsp;Chiara Mazzanti ,&nbsp;Micaela Carcione ,&nbsp;Carmen Llames Massini ,&nbsp;Paula Inés Buonfiglio ,&nbsp;Viviana Dalamón ,&nbsp;Carla Bolaño Díaz ,&nbsp;Lilia Mesa ,&nbsp;Alberto Dubrovsky ,&nbsp;Javier Cotignola ,&nbsp;Florencia Giliberto","doi":"10.1016/j.ejpn.2024.12.003","DOIUrl":"10.1016/j.ejpn.2024.12.003","url":null,"abstract":"<div><div>A wide phenotypic spectrum exists among DMD patients, with genetic modifiers seen as a putative cause of this variability. The main aim was to evaluate the effect of 4 genetic modifiers and the location of <em>DMD</em> variants on disease severity in a DMD Argentine cohort. A secondary objective was to provide a summary of the current state of knowledge and association of the tested loci with DMD's phenotype. Two groups of patients with extreme phenotypes (Severe/Mild) were defined based on the age at loss of ambulation. SNVs in <em>SPP1, LTBP4, CD40</em>, and <em>ACTN3</em> were genotyped, and their distribution was compared between groups using Chi-square or Fisher exact tests. Concurrent effects with glucocorticoids treatment, <em>DMD</em> mutation location (proximal/distal) and the other loci were evaluated by multivariate logistic regression. Additionally, we performed a systematic literature review to summarize and interpret the impact of modifiers on various DMD traits. <em>ACTN3</em>-rs1815739 was the only modifier loci of DMD progression in our cohort. A concurrent damaging effect between <em>DMD</em> mutation and <em>ACTN3</em> was detected, identifying a possible interaction between distal variants and <em>ACTN3</em> TT-genotype that need to be validated in a larger cohort. The systematic review showed agreement in the results when significant differences were reported. The employment of extreme DMD phenotypic groups was an innovative approach for identifying risk loci for disease severity. The interaction between <em>DMD</em> mutation location and <em>ACTN3</em>, if confirmed, could help to avoid confounding elements in assembling study cohorts for clinical trials. Finally, this report's major highlight is being the first study conducted on an Argentine and Latin-American population.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 32-41"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824693","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":"The impact of lesion size on executive function performance in children and adolescents after pediatric stroke","authors":"Kathrin Kollndorfer ,&nbsp;Florian PhS. Fischmeister ,&nbsp;Astrid Novak ,&nbsp;Rainer Seidl ,&nbsp;Gregor Kasprian ,&nbsp;Lisa Bartha-Doering","doi":"10.1016/j.ejpn.2025.02.006","DOIUrl":"10.1016/j.ejpn.2025.02.006","url":null,"abstract":"<div><div>Cognitive deficits after childhood arterial ischemic stroke (AIS) can be observed in more than half the affected children, especially in executive functions. Previous research revealed some main factors that influence cognitive outcome after childhood AIS, including lesion location, lesion size, and age at stroke. However, the importance of lesion size particularly has been discussed controversially. Thus, the present study takes a closer look at the impact of lesion size on executive performance in children who suffered an AIS using both direct cognitive testing and parental ratings. The study sample comprised 14 patients after childhood AIS (mean age 12.71, 5 female) and 14 age- and sex-matched healthy controls (mean age 11.00, 6 female). Results of cognitive testing revealed that the patient group performed poorer in executive functioning compared to controls, but mostly within the normal range. Lesion size correlated with sustained attention performance and some of the parental rating scales. However, if these correlations were controlled for sustained attention, lesion size was no longer correlated with any parental rating scale. The results of the present study suggest that sustained attention performance mediates the correlation between parental ratings of executive functions and lesion size. This confounding factor may explain inconsistent results of the relationship between lesion size and cognitive outcome in previous research.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 193-199"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143445833","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":"The natural history of pediatric Sturge-Weber Syndrome: A multinational cross-sectional study","authors":"Sigrid Claudia Disse ,&nbsp;Hanna Küpper ,&nbsp;Annette Bock ,&nbsp;Georg-Christoph Korenke ,&nbsp;Georgia Ramantani ,&nbsp;Birgit Weidner ,&nbsp;Martin Preisel ,&nbsp;Regina Trollmann ,&nbsp;Adelheid Wiemer-Kruel ,&nbsp;Knut Brockmann ,&nbsp;Simone Schroeder ,&nbsp;Sascha Meyer","doi":"10.1016/j.ejpn.2025.02.004","DOIUrl":"10.1016/j.ejpn.2025.02.004","url":null,"abstract":"<div><h3>Background</h3><div>Sturge-Weber Syndrome (SWS) is a capillary-venous malformation which includes the brain (leptomeningeal venous capillary malformation), the eye (choroidal angioma) and the skin (facial portwine birthmark, FPB). Structural epilepsy, glaucoma and FPBs pose therapeutic challenges. Considerable advances include improved neuroimaging, new antiseizure medication (ASM) and progress in epilepsy surgery. Yet, comprehensive data on epidemiology, clinical features, diagnostics, and treatment in contemporary pediatric SWS cohorts is scarce.</div></div><div><h3>Methods</h3><div>We conducted a multinational cross-sectional observational study in Germany, Switzerland and Austria to identify potential patients and build up a comprehensive database containing anonymized patient data. The patients’ guardians and child neurologists filled in detailed questionnaires on histories, clinical features, diagnostic and therapeutic measures.</div></div><div><h3>Results</h3><div>Forty-seven SWS patients from Germany, Switzerland or Austria participated in our survey (111 notifications, i.e. the participation rate was 43 %). Prevalence was 7.37/million in Germany, 4.60/million in Switzerland, 2.61/million in Austria. Severity of skin, eye and brain involvement varied highly. Forty-three patients (91 %) were diagnosed with epilepsy. Median age at first seizure was 6.5 months. Thirty-two percent of the cohort received ASM in monotherapy, fifty-three percent received combination therapy and thirteen percent received no ASM. Eight percent underwent epilepsy surgery.</div></div><div><h3>Conclusions</h3><div>In this European pediatric SWS cohort from a well-established tertiary child neurologist network, the condition was commonly diagnosed within the first year of life. 40 % of the cohort were seizure-free at inclusion; only 8.5 % of the cohort underwent epilepsy surgery. Our findings are concordant with published data from U.S. registries and case series. While our results indicate diagnostic improvement as compared to published studies, epilepsy management in SWS remains a challenge.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 200-209"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143454068","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":"Etiology-specific subgroup analysis of initial pharmacotherapy in infantile epileptic spasm syndrome: A single-center cohort study","authors":"Cemile Busra Olculu,&nbsp;Seda Kanmaz,&nbsp;Tugce Ince,&nbsp;Ozlem Yilmaz,&nbsp;Dilara Ece Toprak,&nbsp;Hepsen Mine Serin,&nbsp;Sanem Yilmaz,&nbsp;Hasan Tekgul","doi":"10.1016/j.ejpn.2025.01.001","DOIUrl":"10.1016/j.ejpn.2025.01.001","url":null,"abstract":"<div><h3>Aim</h3><div>To evaluate the efficacy of initial pharmacotherapy for infantile epileptic spasm syndrome (IESS) with electro-clinical outcome characteristics.</div></div><div><h3>Method</h3><div>A retrospective comparative cohort study with 280 IESS patients was designed; I. vigabatrin monotherapy (n = 129, 46 %); II. hormonotherapy (ACTH/oral prednisolone) (n = 73, 26 %); and III. vigabatrin plus early initiation of hormonotherapy in the first 14 days (n = 78, 28 %). Two types of outcomes were defined: (1) short-term outcome with spasm cessation time ≤42 days and resolution of hypsarrhythmia on the EEG on ≤3 months and (2) long-term outcome with spasm relapse rate or evolution to a new epileptic syndrome.</div></div><div><h3>Results</h3><div>The etiology-specific diagnoses of the IESS cohort were defined according to the ILAE classification: structural (n = 131, 46.8 %), genetic (n = 28, 10 %), metabolic (n = 13, 4.6 %), immune-infectious (n = 10, 3.6 %), and unknown (n = 98, 35 %). Each treatment modalities had similar short- and long-term outcome characteristics. However, hormonotherapy with steroids (ACTH/oral prednisolone) provided “<em>early IESS resolution</em>” with spasm cessation and resolution of hypsarrhythmia (p = 0.042). The relapse rates of IESS were significantly higher in the etiology well-defined group compared to the unknown group (p = 0.005). The genetic-etiology specific group was more likely to have evolved to a new electro-clinical syndrome with a rate of 83.3 % than the others (p = 0.039).</div></div><div><h3>Conclusion</h3><div>We observed that the early initiation of hormonotherapy with VGB (sequential therapy) should be investigated in etiology well-defined subgroup with short- and long-term outcome characteristics.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 89-95"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973123","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":"Immunoadsorption is equally effective as plasma exchange in paediatric neuroimmunological disorders - A retrospective multicentre study","authors":"Paula Cramer ,&nbsp;Marc Nikolaus ,&nbsp;Sebastian Loos ,&nbsp;Jonas Denecke ,&nbsp;Ellen Knierim ,&nbsp;Dominik Müller ,&nbsp;Lutz T. Weber ,&nbsp;Christina Taylan ,&nbsp;Julia Thumfart","doi":"10.1016/j.ejpn.2024.12.005","DOIUrl":"10.1016/j.ejpn.2024.12.005","url":null,"abstract":"<div><h3>Background</h3><div>Therapeutic apheresis (TA) are promising treatment option for neuroimmunological disorders. In paediatrics, the available data is limited, particularly for the use of IA. The aim of this study was to analyse the use of PE and IA in children and adolescents, with emphasis on outcome and neurological course after treatment as well as the safety of the two modalities.</div></div><div><h3>Methods</h3><div>Clinical data from paediatric patients with neuroimmunological disorders treated with TA in two German university children's hospitals between 2015 and 2022 were retrospectively analysed.</div></div><div><h3>Results</h3><div>In total, 39 patients underwent 322 sessions of TA, of which 184 were IA and 138 PE. The most common diagnosis was autoimmune encephalitis in 39 % (n = 15) of the patients. Other indications were central nervous system inflammatory demyelinating disorders in 21 % (n = 8), Guillain-Barré syndrome in 18 % (n = 7), Myelin Oligodendrocyte Glycopeptide-antibody associated syndromes in 8 % (n = 3), Myasthenia gravis in 5 % (n = 2) and other neurological disorders in 10 % (n = 4). Overall, there was an improvement in 76 % of patients (81 % with IA, 70 % with PE; p = 0.41) immediately after treatment and an improvement in 88 % of patients (90 % with IA, 85 % with PE; p = 0.63) one month after treatment. Complications occurred in 13 % of all sessions (13 % with IA and 13 % with PE; p = 1). Most complications were considered as moderate.</div></div><div><h3>Conclusion</h3><div>Both, IA and PE, are effective treatment options in the therapy of neuroimmunological disorders in children and adolescents, with no major differences in terms of efficiency or safety.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 58-63"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928559","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":"Harmful metabolic acidosis in children treated by ketogenic diet during prolonged general anesthesia for epilepsy surgery: A single center experience","authors":"Rayann Checri ,&nbsp;Severine Gras ,&nbsp;Simon Clariot ,&nbsp;Anais Chivet ,&nbsp;Marie-Thérèse Dangles ,&nbsp;Julie Bonheur ,&nbsp;Nathalie Dorison ,&nbsp;Mathilde Chipaux ,&nbsp;Pierre Trouiller ,&nbsp;Sarah Ferrand-Sorbets ,&nbsp;Jean-Michel Devys ,&nbsp;Emmanuel Raffo","doi":"10.1016/j.ejpn.2025.01.008","DOIUrl":"10.1016/j.ejpn.2025.01.008","url":null,"abstract":"<div><h3>Objective</h3><div>Management of ketogenic diet (KD) in case of prolonged anesthesia in children.</div></div><div><h3>Methods</h3><div>We conducted a retrospective study in the pediatric neurosurgery department of Rothschild Hospital Foundation in France. All the children who underwent long term anesthesia (&gt;4h) in case of neurosurgery for drug resistant pediatric epilepsy surgery between September 2020 and January 2024 were included, excluding patients with suspected metabolic disorder or without blood sample. Children were analyzed in three subgroups: Children under regular diet before surgery constituted the Non-KD group; strict maintenance of KD with no carbohydrate intake during surgery constituted the KD-S group (stringent); carbohydrate intravenous intake during surgery in a patient treated by KD represented the KD-B group (broken).</div></div><div><h3>Results</h3><div>22 patients were included, among whom 6 under ketogenic diet (KD). After 4 h of anesthesia, children maintained in strict ketogenic diet (KD-S, n = 3) exhibited non-lactic metabolic acidosis (pH 7.13 vs 7.34, p = 1.38x10⁻⁹) associated with an increased anionic gap (17.1 mM vs 9.6 mM, p = 1.58 x10⁻⁴).</div></div><div><h3>Significance</h3><div>Current recommendations for anesthesia during long term anesthesia (&gt;4h) with strict no-carbohydrate intake during anesthesia in case ok KD may be at risk of life-threatening metabolic acidosis, in a context of absence of protocolized monitoring of variations in hyperketosis throughout a prolonged fast. A KD-management protocol, including routine monitoring of ketosis in addition to usual monitoring (lactacidemia, kaliemia and glycemia), and low carbohydrates intravenous perfusion throughout prolonged general anesthesia, should be implemented throughout prolonged general anesthesia, especially for infants younger than 2 years.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 140-146"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081962","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":"Mitochondrial disorder diagnosis and management– what the pediatric neurologist wants to know","authors":"Oliver Heath ,&nbsp;René G. Feichtinger ,&nbsp;Melanie T. Achleitner ,&nbsp;Peter Hofbauer ,&nbsp;Doris Mayr ,&nbsp;Kajus Merkevicius ,&nbsp;Johannes Spenger ,&nbsp;Katja Steinbrücker ,&nbsp;Carina Steindl ,&nbsp;Elke Tiefenthaler ,&nbsp;Johannes A. Mayr ,&nbsp;Saskia B. Wortmann","doi":"10.1016/j.ejpn.2024.10.009","DOIUrl":"10.1016/j.ejpn.2024.10.009","url":null,"abstract":"<div><div>Childhood-onset mitochondrial disorders are rare genetic diseases that often manifest with neurological impairment due to altered mitochondrial structure or function. To date, pathogenic variants in 373 genes across the nuclear and mitochondrial genomes have been linked to mitochondrial disease, but the ensuing genetic and clinical complexity of these disorders poses considerable challenges to their diagnosis and management. Nevertheless, despite the current lack of curative treatment, recent advances in next generation sequencing and -omics technologies have laid the foundation for precision mitochondrial medicine through enhanced diagnostic accuracy and greater insight into pathomechanisms. This holds promise for the development of targeted treatments in this group of patients. Against a backdrop of inherent challenges and recent technological advances in mitochondrial medicine, this review discusses the current diagnostic approach to a child with suspected mitochondrial disease and outlines management considerations of particular relevance to paediatric neurologists. We highlight the importance of mitochondrial expertise centres in providing the laboratory infrastructure needed to supplement uninformative first line genomic testing with focused and/or further unbiased investigations where needed, as well as coordinating an integrated multidisciplinary model of care that is paramount to the management of patients affected by these conditions.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 75-88"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967160","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}