Developmental Medicine and Child Neurology最新文献

{"title":"Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: Design and regulatory challenges in clinical trials for rare disease.","authors":"Russell C Dale","doi":"10.1111/dmcn.16237","DOIUrl":"https://doi.org/10.1111/dmcn.16237","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Forewords","authors":"","doi":"10.1111/dmcn.16178","DOIUrl":"10.1111/dmcn.16178","url":null,"abstract":"<p>Welcome to the British Paediatric Neurology Association (BPNA) Annual Conference. As always, the quality of the programme remains exceptionally high, complemented by a large number of abstract submissions.</p><p>The 2025 conference is hosted by the Oxford team, and while the programme reflects local interests, it also provides a broad perspective on current issues in paediatric neurology. We have actively encouraged the involvement of patients and carers in the programme, with several stands and video clips from patient organizations featured for the first time.</p><p>Building on the success of last year's research workshops, we are once again hosting sessions to address key research questions in the field and promote collaboration. These interactive workshops are open to all, aiming to bring together leading experts to advance research, discuss patient pathways, and identify clinical and research gaps. We also invite and welcome patient groups to attend these sessions.</p><p>The Oxford team will showcase some of the outstanding work being done in neuroinflammation. Presentations from world-leading experts and researchers will highlight the latest treatment interventions and breakthroughs in answering fundamental questions in this field. The programme reflects current developments and addresses challenges faced by all in paediatric neurology.</p><p>We will also feature the ever-popular video session, designed to help attendees learn from expert panel discussions on how to approach paediatric neurological disorders, phenomenology, differential diagnosis, and investigations through case presentations and video analysis.</p><p>During the conference, we will present the prestigious Ronnie Mac Keith Prize, as well as the Developmental Medicine and Child Neurology (DMCN) Best Article by a BPNA Trainee Prize. Additional prizes will be awarded for the best oral presentation, oral poster, e-poster, and medical student presentation.</p><p>Given the recent attention on epileptic encephalopathies, we will host a debate on Lennox–Gastaut syndrome and its relevance.</p><p>Recent advances in genetic testing and gene therapies have introduced new complexities to our specialty, and we will explore whether applying genomics can enhance diagnosis, neurobiology, and treatment for neurodevelopmental disorders.</p><p>The hosting team will also be delighted to share some of Oxford's rich history with those attending the conference in person.</p><p>Delegates are warmly invited to the reception event at the medieval Divinity School, and we hope you enjoy dinner and a Cèilidh while visiting the Museum of Natural History. We trust that this year's BPNA conference will inspire ambition, foster innovation, promote collaboration, and showcase achievements.</p><p>Sam Amin</p><p>Chair of Research</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 S1","pages":"3"},"PeriodicalIF":3.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16178","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Forewords","authors":"Bernard Dan","doi":"10.1111/dmcn.16179","DOIUrl":"10.1111/dmcn.16179","url":null,"abstract":"<p>It is a great pleasure to publish and archive the abstracts of the presentation that will be made at the 2025 Annual Conference of the British Paediatric Neurology Association (BPNA) in Oxford. These abstracts cover a very wide range of timely topics in paediatric neurology in terms of clinical presentations, diagnostics, and management, often with clear implications for clinical practice. Interestingly, most of the themes identified by the recent BPNA effort in conjunction with the National Institute for Health and Care Research and the James Lind Alliance, as research priorities regarding the effectiveness of interventions for the benefit of children with neurological conditions, are represented, including early intervention, sleep, emotional well-being, psychological interventions for functional neurological disorders, pharmacological treatment of hypertonia, and non-medical interventions for motor disorders.<span>¹</span> Several abstracts involve interesting use of technologies such as machine learning or telemedicine. Many have a direct educational value in addition to scientific quality; a few address quality improvement of service or training. A proportion of the presented works result from international collaboration.</p><p>Readers of this <i>Developmental Medicine &amp; Child Neurology</i> supplement must bear in mind that although each of the abstracts was carefully selected by the BPNA for presentation at the Annual Conference, the submitted material did not go through the review and editorial process that is applied to full papers received at the Journal. The abstracts serve as a base for the actual presentation and discussion during and around the meeting, which is also a form of peer review and constructive interaction. I hope that a number of these presentations will eventually be written up as research articles and duly submitted.</p><p>Bernard Dan</p><p>Editor in Chief</p><p>Email: <span>[email protected]</span></p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 S1","pages":"4"},"PeriodicalIF":3.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16179","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Poster Presentations","authors":"","doi":"10.1111/dmcn.16181","DOIUrl":"10.1111/dmcn.16181","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 S1","pages":"23-136"},"PeriodicalIF":3.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16181","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933496","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The MacKeith Prize for BPNA 2025 has been awarded to Dr. Elizabeth Radford","authors":"","doi":"10.1111/dmcn.16210","DOIUrl":"10.1111/dmcn.16210","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 S1","pages":"5"},"PeriodicalIF":3.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16210","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral Presentations","authors":"","doi":"10.1111/dmcn.16180","DOIUrl":"10.1111/dmcn.16180","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 S1","pages":"6-22"},"PeriodicalIF":3.8,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16180","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933494","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Experiences of participation in daily life of adolescents and young adults with cerebral palsy: A scoping review","authors":"","doi":"10.1111/dmcn.16228","DOIUrl":"10.1111/dmcn.16228","url":null,"abstract":"<p>Young adulthood is an important time for learning skills, making choices, and exploring identity. How do adolescents and young adults with cerebral palsy (CP) feel about their participation in day-to-day life?</p><p>We found and reviewed research from 2001 onwards that looked at the participation of young people with CP, aged 15 to 34 years, across the important areas of young adult life. Our goal was to understand what research existed, and to summarize the experiences of participation that young people with CP have had.</p><p>There were 38 articles from 32 different research projects. Almost all of these were from high-income countries, and mostly (66%) published in the last 5 years. There was information from 2759 young people with CP who were more likely male (58%), able to walk on their own (54%), live with parents or family (71%), and be a high school or university student (32%).</p><p>We found that young people with CP want to be a part of all life areas of young adulthood, to build life skills, and make more choices. Trying to participate in the adult world was described as hard work. The things that made participating most difficult were the ways communities and systems were built, and people's lack of knowledge about disability. Supportive family and friends were especially important during this life stage.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 3","pages":"e69"},"PeriodicalIF":3.8,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16228","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Natural history of SGCE-associated myoclonus dystonia in children and adolescents","authors":"","doi":"10.1111/dmcn.16230","DOIUrl":"10.1111/dmcn.16230","url":null,"abstract":"<p>This study aimed to understand how <i>SGCE</i>-myoclonus dystonia develops from childhood to early adulthood.</p><p>Researchers looked at two groups of patients from Spain and the Netherlands. They used specific scales to measure myoclonus (sudden muscle jerks) and dystonia (muscle contractions). They calculated how much these symptoms changed over time and also checked for mental health issues in the Spanish group.</p><p>A total of 38 patients (21 males and 17 females) were studied, with ages ranging from 2 to 25 years. The researchers found that the symptoms of myoclonus and dystonia got worse over time, especially during activities like writing. Patients reported that their ability to speak, write, and walk also declined. Additionally, many patients experienced mental health issues, including anxiety, obsessive-compulsive disorder, and attention-deficit/hyperactivity disorder.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 3","pages":"e70"},"PeriodicalIF":3.8,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16230","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differentiating non-epileptic seizures from epileptic seizures in Glut1 deficiency syndrome","authors":"","doi":"10.1111/dmcn.16231","DOIUrl":"10.1111/dmcn.16231","url":null,"abstract":"<p>Glucose transporter type 1 deficiency syndrome (Glut1DS) is a neurological disorder caused by metabolic disturbances in the brain. Apart from epileptic seizures, various paroxysmal symptoms can occur as transient brain dysfunction triggered by energy deficits, often following prolonged fasting or exercise. Thus, Glut1DS presents with chronic neurological symptoms, including cognitive impairment, movement disorders (e.g. ataxia, spasticity, and dystonia), and both epileptic and non-epileptic seizures.</p><p>Non-epileptic seizures associated with Glut1DS are essentially situation-related events provoked and ameliorated by specific factors. As is true in other inborn errors of metabolism, misdiagnosis of these paroxysmal events as epileptic seizures may lead to an erroneous diagnosis of pharmaco-resistant epilepsy due to poor response to conventional antiseizure medications. This can result in unnecessary or inappropriate treatments.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 3","pages":"e71-e72"},"PeriodicalIF":3.8,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16231","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Psychometric evaluation of the Autism Symptom Dimensions Questionnaire","authors":"","doi":"10.1111/dmcn.16229","DOIUrl":"10.1111/dmcn.16229","url":null,"abstract":"<p>This study re-examined a caregiver-reported measure of autism symptoms called the Autism Symptom Dimensions Questionnaire (ASDQ). The ASDQ was evaluated using two large samples and a small series of children receiving intensive behavioral intervention. The large samples included a national US population sample and a national clinical sample with over-representation of individuals from historically underrepresented backgrounds who were using public insurance. Both samples included young people with autism spectrum disorder (ASD) and young people with non-ASD developmental conditions.</p><p>The ASDQ was evaluated in terms of its structure, reliability, validity, and sensitivity to change. The first major finding was that the structure of the ASDQ replicated across both large samples and was consistent with prior research. The second major fining was that the ASDQ showed very good reliability, including good ability to measure across low, average, and high score ranges, and good stability of scores across time. The third major finding was that the ASDQ showed moderate to strong associations with other measures of autism symptoms, even when those measures came from different modalities (e.g. clinician observation). The fourth major finding was that the ASDQ had very good ability to screen for ASD in the population sample but had weaker validity for detecting ASD in the clinical sample. The last major finding from the small case series was that the ASDQ showed the ability to detect reliable change in autism symptoms and social communication/interaction behavior in children receiving intensive behavioral intervention.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 3","pages":"e68"},"PeriodicalIF":3.8,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16229","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928684","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}