European Journal of Paediatric Neurology最新文献

{"title":"Evidence-based diagnostic prediction score for pediatric NMDA receptor encephalitis","authors":"Shimpei Matsuda ,&nbsp;Takayuki Mori ,&nbsp;Mariko Kasai ,&nbsp;Kuniko Kohyama ,&nbsp;Hiroya Nishida ,&nbsp;Shimpei Abe ,&nbsp;Ichiro Kuki ,&nbsp;Satoko Kumada ,&nbsp;Hirokazu Kurahashi ,&nbsp;Sahoko Miyama ,&nbsp;Motomasa Suzuki ,&nbsp;Jun-ichi Takanashi ,&nbsp;Satoshi Usami ,&nbsp;Satoshi Yamaguchi ,&nbsp;Syudo Yamasaki ,&nbsp;Atsushi Nishida ,&nbsp;Hiroshi Sakuma","doi":"10.1016/j.ejpn.2024.12.004","DOIUrl":"10.1016/j.ejpn.2024.12.004","url":null,"abstract":"<div><h3>Objective</h3><div>Early diagnosis and treatment of anti-N-methyl-D-aspartate receptor encephalitis (NMDARE) are crucial for a favorable prognosis. Detecting the causative autoantibodies can be challenging. Probable diagnostic criteria are useful in adults less so in children. We aimed to develop a novel diagnostic score for pediatric NMDARE using cohort data.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed pediatric participants (0–18 years) with suspected autoimmune encephalitis who underwent cerebrospinal fluid analysis for antineuronal antibodies (Abs) between January 2015 and March 2023. Clinical data, including symptoms and laboratory findings, were analyzed. Symptoms were selected through univariate analysis and then analyzed with multivariate logistic regression model. Resulting odds ratios were used to calculate scores. Scoring systems were developed and evaluated with five-fold validation and univariate logistic regression. One scoring system was selected to create a diagnostic prediction score for pediatric NMDARE.</div></div><div><h3>Results</h3><div>Of the 504 patients, 264 met the inclusion criteria, and 39 tested positive for NMDAR Abs. Comparing clinical symptoms between cohorts and identified 15 variables significantly different (p &lt; 0.05) to create a pediatric NMDARE prediction score. This score showed 82.1 % sensitivity and 82.2 % specificity, with an 8-point cutoff. The area under the curve was 0.888 (95 % confidence interval: 0.838–0.939). A five-fold cross-validation showed a sensitivity of 95.6 %, specificity of 71.4 %, and kappa coefficient of 0.670.</div></div><div><h3>Conclusion</h3><div>We developed a novel evidence-based diagnostic prediction score for pediatric NMDARE that incorporates specific clinical features and laboratory findings. This score may improve diagnostic accuracy and guide early therapy in children with suspected autoimmune encephalitis.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 50-57"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873171","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":"Behavioral, neurodevelopmental profile, and epilepsy trajectory in two series of SLC6A1-NDD: A retrospective study with comprehensive assessment, and a participatory database study","authors":"Sarah Baer ,&nbsp;Mathieu Rebert ,&nbsp;Pauline Burger ,&nbsp;Jean-Louis Mandel ,&nbsp;Nathalie Villeneuve ,&nbsp;Marc Gibaud ,&nbsp;Cecilia Altuzarra ,&nbsp;Frédéric Villega ,&nbsp;Claude Cances ,&nbsp;Laure Lacan ,&nbsp;Sylvie Nguyen ,&nbsp;Gaëtan Lesca ,&nbsp;Hervé Isnard ,&nbsp;Nouha Allani-Essid ,&nbsp;Vincent Laugel ,&nbsp;Romain Coutelle ,&nbsp;Anne de Saint Martin","doi":"10.1016/j.ejpn.2025.01.003","DOIUrl":"10.1016/j.ejpn.2025.01.003","url":null,"abstract":"<div><div>SLC6A1 (Solute Carrier Family 6 Member 1) variants are associated with <em>SLC6A1</em>-neurodevelopmental disorders (SLC6A1-NDD), which manifest as early-onset epilepsy, intellectual developmental disorder, and autism spectrum disorder. There have been over 300 reported cases so far. A retrospective analysis of 14 patients with <em>de novo SLC6A1</em> variants was conducted to assess their developmental milestones, epilepsy progression, antiseizure medication, and, for some, a comprehensive neurodevelopmental evaluation. Data from 14 additional families were also collected using the GenIDA participatory database, aiming to better characterize the natural history of genetic forms of NDDs.</div><div>Most patients exhibited normal early motor development, but delays in communication and language skills were observed. Their intellectual functioning varied, mostly falling within the low average to moderate intellectual developmental disorder range, with a predominant expressive and receptive language disorder. More than half of the group displayed autistic features, particularly stereotypic behavior. Behavioral disorders such as hyperactivity, anxiety, impulsivity, or inhibition were common concerns for parents.</div><div>The first seizures occurred between 14 months and 5 years, mainly presenting as generalized seizures (atonic falls, absences, atypical absences, myoclonic-atonic seizures). EEG results frequently showed bursts of rhythmic delta activity, persisting from childhood to adulthood, with epilepsy primarily responding well to antiseizure medication in most of the reported cases.</div><div>This study exhibited a distinct electroclinical and neurodevelopmental phenotype in young children, suggesting the importance of early genetic testing for SLC6A1-NDD diagnosis.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 121-129"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076102","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":"Transition of patients with Duchenne muscular dystrophy from paediatric to adult care: An international Delphi consensus study","authors":"Diana Castro ,&nbsp;Thomas Sejersen ,&nbsp;Luca Bello ,&nbsp;Filippo Buccella ,&nbsp;Anita Cairns ,&nbsp;Jorge Carranza-del Río ,&nbsp;Imelda J.M. de Groot ,&nbsp;Lauren Elman ,&nbsp;Isabella Inzani ,&nbsp;Andrea Klein ,&nbsp;Oscar H. Mayer ,&nbsp;Hawken Miller ,&nbsp;Alessandro Onofri ,&nbsp;Alexandra Prufer de Queiroz Campos Araújo ,&nbsp;Ulrike Schara-Schmidt ,&nbsp;Karsten Vanden Wyngaert ,&nbsp;Leanne M. Ward ,&nbsp;Jo M. Wilmshurst ,&nbsp;Rosaline Quinlivan","doi":"10.1016/j.ejpn.2025.01.004","DOIUrl":"10.1016/j.ejpn.2025.01.004","url":null,"abstract":"<div><h3>Background</h3><div>Duchenne muscular dystrophy (DMD) is a rare neuromuscular disorder characterized by a progressive decline in muscle function, leading to loss of ambulation, respiratory and cardiac failure, and ultimately death. Improvements in DMD management have increased patient life expectancy; therefore, there is a growing requirement for patients to transfer from paediatric to adult care services. There is also a need for clear recommendations to guide this process.</div></div><div><h3>Aim</h3><div>To establish international consensus guidelines regarding best practices for transitioning patients with DMD from paediatric to adult care and ensuring continuity of treatment.</div></div><div><h3>Methods</h3><div>Consensus statements were developed using the Delphi process and scored using the Grading of Recommendations Assessment, Development and Evaluation (GRADE) system. The initiative was led by a steering committee (one non-voting chair and two voting members) who recruited 15 expert panellists to form the consensus group. Following an initial systematic literature search, the consensus group voted in three voting rounds. Round 1 (free-text responses to questions) and Round 2 (importance ranking of statements) were completed using an online survey. Round 3 (voting on final consensus statements) took place during a virtual consensus meeting.</div></div><div><h3>Consensus statements</h3><div>Consensus was reached on 48 statements covering the topics of transition planning, the transition process, post-transfer management, communicating with young people with DMD and supporting them with the transition to adult life.</div></div><div><h3>Conclusion</h3><div>These consensus statements provide guidelines for improving transition practices for young people with DMD and promoting continued care at a comparable standard in adulthood.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 130-139"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076103","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":"Trauma, coping, and adjustment when parenting a child with Dravet syndrome","authors":"Anthony Mercier ,&nbsp;Liam Dorris ,&nbsp;Andreas Brunklaus ,&nbsp;Joseph D. Symonds ,&nbsp;Sameer M. Zuberi ,&nbsp;Teresa Finch ,&nbsp;Galia Wilson ,&nbsp;Claire Eldred","doi":"10.1016/j.ejpn.2025.01.002","DOIUrl":"10.1016/j.ejpn.2025.01.002","url":null,"abstract":"<div><h3>Objectives</h3><div>Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy that requires significant caregiver input across the lifespan. This predominantly falls on parents, who are faced with considerable challenges including physical demands, financial burdens, and sustained pressure on mental wellbeing leading to mental health difficulties. We aimed to develop a grounded theory model for the process of coping and adjustment that occurs when caring for a child who has a diagnosis of DS.</div></div><div><h3>Methods</h3><div>Using a Constructivist Grounded Theory methodology, we conducted five focus groups, each with 4–6 participants, and 24 in total. They were recruited via convenience sampling through a national Dravet syndrome patient advocacy group. Focus group dialogue was recorded, transcribed, and coded into themes to generate a theory of coping and adjustment that is grounded in the data.</div></div><div><h3>Results</h3><div>We developed a model of coping and adjustment for parents caring for a child with Dravet syndrome. The model includes contextual factors that impact on parents (loss and insufficient resource). We found a prominent theme of trauma and explored how parents responded to this trauma over time. All parents described a primary coping response reflecting the high levels of stress they had to contend with. Some parents were able to describe a secondary coping style that appeared to support healthier long-term coping and adjustment.</div></div><div><h3>Significance</h3><div>The study provides novel insight into the ways in which parents cope and adjust to caring for a child with DS, with a focus on adapting to trauma. These insights provide the foundation for the creation of targeted therapeutic interventions for parents of children with developmental and epileptic encephalopathies (DEEs), which we outline and discuss.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 96-106"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015556","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":"Efficacy and safety of Nusinersen among children with spinal muscular atrophy from North India: A prospective cohort study (NICE-SMA study)","authors":"Abhishek Pandey ,&nbsp;Renu Suthar ,&nbsp;Titiksha Sirari ,&nbsp;Manisha Malviya ,&nbsp;Somya Saxena ,&nbsp;Sandhya Yaddanapudi ,&nbsp;Shobit Garg ,&nbsp;Arushi G. Saini ,&nbsp;Jitendra K. Sahu ,&nbsp;Naveen Sankhyan","doi":"10.1016/j.ejpn.2024.12.001","DOIUrl":"10.1016/j.ejpn.2024.12.001","url":null,"abstract":"<div><h3>Background</h3><div>Intra-thecal Nusinersen has been approved for the treatment of Spinal muscular atrophy (SMA). Limited data is available regarding the efficacy and safety of Nusinersen in children with SMA type 2 and 3 from North India.</div></div><div><h3>Objective</h3><div>To study the efficacy and safety of Nusinersen among children with SMA type 2 and 3 from North India compared to standard of care (SOC) over 12 months.</div></div><div><h3>Methods</h3><div>Children with a genetically confirmed diagnosis of SMA and ≥2 copies of the SMN2 gene were screened for enrolment in prospective study design. Revised Hammersmith score (RHS) and revised upper limb module (RULM) were assessed every three months. Compound muscle action potentials (CMAPs) at median and ulnar nerves and quality of life (QOL) were performed at baseline and 12 months. Intra-thecal procedure-related and treatment-emergent side effects in children receiving Nusinersen therapy were recorded. Outcome measures at 6 and 12 months were compared between the Nusinersen and SOC groups.</div></div><div><h3>Results</h3><div>Forty-two children with SMA, mean age of 85 ± 6 months, including 16 in the Nusinersen group and 26 in the SOC group, were enrolled. The mean RHS score in the Nusinersen group increased from the baseline of 35 ± 18 to 38.9 ± 19, and 39.9 ± 17 at 6 and 12 months (p value-0.001), in the SOC group increased from the baseline of 28.8 ± 15, to 29.6 ± 16, and 29.9 ± 17 at 6 and 12 months respectively (p value-0.35). The mean gain in the RHS score over 12 months in the Nusinersen group was significantly higher compared to the SOC group (p-value 0.02). RULM showed significant gain in the Nusinersen group compared to the SOC group over 12 months (p value 0.03). The median and ulnar nerve CMAPs, and QOL were similar in both the groups. A total of 119 intrathecal injections of Nusinersen were given. Most adverse events were mild and related to the intra-thecal procedure.</div></div><div><h3>Conclusion</h3><div>Intra-thecal Nusinersen therapy among children with late-onset SMA from North India over 12-month duration was associated with improvement in motor abilities as measured by RHS compared to SOC. Intra-thecal Nusinersen was safe and tolerated well.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 42-49"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830694","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":"Difficulty of administration of nusinersen in complex-column spinal muscular atrophy: New alternative technique by means of cervical intrathecal access through an Ommaya reservoir","authors":"Beatriz Mansilla Fernández ,&nbsp;José Francisco Paz Solís ,&nbsp;María del Mar García Romero ,&nbsp;Miguel A. Fernandez-Garcia ,&nbsp;María Román de Aragón ,&nbsp;Fernando Carceller Benito ,&nbsp;Samuel Ignacio Pascual Pascual","doi":"10.1016/j.ejpn.2025.01.005","DOIUrl":"10.1016/j.ejpn.2025.01.005","url":null,"abstract":"<div><h3>Background</h3><div>The study aimed to describe a new Ommaya reservoir implantation method in late-onset SMA patients, assessing its safety and effectiveness under standard clinical conditions.</div></div><div><h3>Methods</h3><div>Prospective observational study. Lumbar intrathecal access was unfeasible due to significant scoliosis and prior spinal surgeries with instrumentation. Patients were infused with Nusinersen through the Ommaya reservoir at Hospital Universitario La Paz (Spain) following the standard dosing protocol.</div></div><div><h3>Results</h3><div>The cohort was composed of 6 patients, 5 individuals with type 2 SMA (83.3 %), and 1 patient presenting with type 3 SMA. 4 of the patients were functionally sitters (66.7 %) and 2 had lost this ability prior to initiating treatment (non-sitters). Mean treatment was 34.7 months. Patient discharge was done in all the cases within 48 h post-admission; no significant postoperative complications or during administration of nusinersen were reported. Functional progress was observed in all patients. Hammersmith Functional Motor Scale Expanded (HFMSE) showed a low average increase (1.0), attributed to the severity of baseline functional impairments. Improvements in upper extremity motor function, measured by the Revised Upper Limb Module (RULM), were more pronounced, with an average improvement of 3.3. Disability levels as measured by the Egen Klassifikation 2 (EK2) scale, declined by 4.4.</div></div><div><h3>Conclusion</h3><div>the current study broadens knowledge regarding the efficacy and safety of using an Ommaya reservoir to administer nusinersen in patients with SMA Types 2 and 3. The technique demonstrated rapid, straightforward drug delivery through a subcutaneous needle, maintaining optimal sterility without radiation or the need for a multidisciplinary team.</div></div>","PeriodicalId":50481,"journal":{"name":"European Journal of Paediatric Neurology","volume":"54 ","pages":"Pages 107-112"},"PeriodicalIF":2.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015554","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":"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":"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":"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}