Developmental Medicine and Child Neurology最新文献

{"title":"The ABCs of neuropaediatrics","authors":"Lucia Gerstl,&nbsp;Florian Heinen","doi":"10.1111/dmcn.16350","DOIUrl":"10.1111/dmcn.16350","url":null,"abstract":"<p>Neuropaediatrics remains at the center of our understanding of human development. As a discipline, paediatric neurology explores the complex and profound relationship between the child and the child's brain. It is also pervasive in the treatment of children presenting with acute emergencies and chronic medical complexities.</p><p>There is now a whole array of new therapies at our disposal for the benefit of these children. Previously intractable, life-limiting neuromuscular diseases like spinal muscular atrophy are becoming treatable. Antisense oligonucleotide and other personalized therapies are being used as first-line treatments in epileptology.<span>^{1, 2}</span> Once extremely rare and only used in exceptional cases, whole-exome sequencing is now regularly utilized, providing new diagnoses and opening up possibilities for precision therapy.<span>³</span></p><p>But with these technological advances we also need to step back and make time for reflection and debate. Who pays for such costly therapies? What is the future role of the experienced neuropaediatrician in telemedicine versus in-person care? How will artificial intelligence (AI) affect our clincial work? Why do we need more and not less clinical neuropaediatric examination to ensure competence and continuity of care?<span>⁴</span></p><p>In this highly complex field of new possibilities, the European Paediatric Neurology Society (EPNS) will be hosting its 2025 Annual Congress in Munich, Germany. With about 1000 abstracts submitted, we have tried to give equal space to as many aspects of paediatric neurology as possible. We will focus on acute neurology with the clinical differentiation of acute brain attack,<span>⁵</span> as well as basic research and long-term care of children with complex neurological diseases. These are the ABCs of paediatric neurology, which we – together with many internationally renowned experts in the field – discuss and sometimes revise and redefine.</p><p>We want to talk to each other – face to face in Munich as well as virtually – and learn from each other. Together with the German-speaking Society for Neuropaediatrics from Austria, Switzerland and Germany (GNP), we are pleased to offer a skills lab at an EPNS Congress for the first time. We will teach and learn in small groups, exchange ideas, and acquire or deepen new knowledge for everyday clinical practice through hands-on training. To warm up, there is a pre-Congress session: ‘The Child and the Brain. Where it's all started. One day of interactive future’. Here we will have time to look at neuropaediatrics from different angles – from clinical examination to AI to philosophical aspects – and hopefully emerge with some fresh perspectives.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 7","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16350","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052106","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":"Predictors of community participation from preschool to school age in children with cerebral palsy.","authors":"Daniela A Testani, Heather Shearer, Gillian King, Sarah Munce, Kevin E Thorpe, Jan Willem Gorter, Bisman Mangat, Fatema Khimji, Darcy Fehlings","doi":"10.1111/dmcn.16322","DOIUrl":"https://doi.org/10.1111/dmcn.16322","url":null,"abstract":"<p><strong>Aim: </strong>To investigate participation frequency patterns and child and family predictors of community participation in young children with cerebral palsy (CP).</p><p><strong>Method: </strong>We prospectively assessed participation frequency at preschool (Young Children's Participation and Environment Measure) and again at school age (Participation and Environment Measure-Children and Youth). Linear regressions examined preschool predictors of community school-age participation: preschool child age; sex; gross motor function (Gross Motor Function Classification System [GMFCS]); manual function (Manual Ability Classification System); pain; prosocial behaviour; conduct; family ethnicity; income; and residence type.</p><p><strong>Results: </strong>Children with CP (n = 155, 44% females, 64% classified in GMFCS level I or II), mean baseline age = 4 years 4 months (SD = 1 year 1 month) and at school age = 6 years 7 months (SD = 7 months) had a median community participation frequency at preschool age of 2.8 (interquartile range [IQR] = 1.3) and 2.8 (IQR = 1.6) at school age. Preschool community participation was 2.02 (confidence interval [CI] = -2.20 to -1.83) units lower than at home; at school age, it was 2.40 (CI = -2.59 to -2.22) units lower. Greater prosocial behaviour (child model: R² = 0.26, p = 0.001) predicted higher school age community participation.</p><p><strong>Interpretation: </strong>In young children with CP, community participation was infrequent at preschool age (a few times in the last 4 months) and this persisted into school age. Higher preschool prosocial behaviour predicted community participation at school age. Enhanced awareness of infrequent community participation of preschool children with CP and supporting a child's social behaviours may help facilitate community participation.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059138","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":"Genetic testing in the diagnosis of cerebral palsy: First-tier for all versus a 'choosing wisely' approach.","authors":"Ingeborg Krägeloh-Mann","doi":"10.1111/dmcn.16327","DOIUrl":"https://doi.org/10.1111/dmcn.16327","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065173","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":"Use of the Pediatric Evaluation of Disability Inventory - Computer Adaptive Test in Denmark, the Netherlands, and Norway.","authors":"Tea Nørgaard Hansen, Karl Bang Christensen, Michelle Stahlhut, Marjolijn Ketelaar, Gunvor Lilleholt Klevberg, Louise Bolvig Laursen, Mette Røn Kristensen, Reidun Jahnsen, Tina Hansen","doi":"10.1111/dmcn.16324","DOIUrl":"https://doi.org/10.1111/dmcn.16324","url":null,"abstract":"<p><strong>Aim: </strong>To investigate whether the items of the Danish, Dutch, and Norwegian versions of the Pediatric Evaluation of Disability Inventory - Computer Adaptive Test (PEDI-CAT) align with the location-order used in the original algorithm and to assess their structural validity.</p><p><strong>Method: </strong>Three convenience samples without disability (0-20 years; Danish [n = 318], Dutch [n = 349], Norwegian [n = 362]) responded to the language-specific versions. Item location-order was estimated using the graded response model and structural validity was tested using confirmatory factor analysis and Rasch analysis.</p><p><strong>Results: </strong>For most items, the item location-order was largely consistent with the location-order used in the original PEDI-CAT algorithm. Items showing a different order were primarily related to the daily activity domain. However, the confirmatory factor analysis and Rasch analysis indicated poor model fit, multidimensionality, and local dependency. Additionally, the Rasch analysis revealed that some items were misfitting, with a few also showing signs of misfit in the original PEDI-CAT version. Few items displayed differential item functioning by sex.</p><p><strong>Interpretation: </strong>The Danish, Dutch, and Norwegian version of the PEDI-CAT can be used to measure the degree of functioning or responsibility. However, clinicians should interpret the PEDI-CAT results with caution due to evidence of multidimensionality, some misfit items, and differential item functioning by sex. Further research is warranted in a population of children and young people with disabilities.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030884","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":"Autonomy in children and adolescents with visual impairment: Validation of the Visual Impairment Developmental Autonomy scale.","authors":"Federica Morelli, Serena Grumi, Guido Catalano, Ilaria Scognamillo, Maria Eleonora Reffo, Roberta Zumiani, Sandra Strazzer, Elena Cocchi, Livio Provenzi, Sabrina Signorini","doi":"10.1111/dmcn.16326","DOIUrl":"https://doi.org/10.1111/dmcn.16326","url":null,"abstract":"<p><strong>Aim: </strong>To validate the Visual Impairment Developmental Autonomy (VIDA) scale, a questionnaire to assess the autonomy level of children with visual impairment.</p><p><strong>Method: </strong>The primary outcome measures included internal consistency, convergent validity, cross-informant concordance, and descriptive statistics of autonomy profiles across three age groups (age 3-5 years; age 6-10 years; age 11-18 years). Internal consistency was assessed using Cronbach's Alpha coefficient. Convergent validity was evaluated against established measures such as the TNO-AZL Children's Quality of Life questionnaire (TACQOL) and the TNO-AZL Preschool Children's Quality of Life questionnaire (TAPQOL) using bivariate Pearson's correlation indexes.</p><p><strong>Results: </strong>Internal consistency coefficients ranged between 0.708 and 0.938 across all subscales and age versions of the instrument. The VIDA subscales showed consistent correlations with comparable dimensions of the TACQOL/TAPQOL (correlations index >0.3). The cross-informant concordance was significant with weak-to-moderate effect sizes. Descriptive statistics showed different profiles of autonomy in the three age groups: clothing and orientation/mobility emerged as areas of vulnerability for adolescents. Visual acuity was significantly correlated with many VIDA scale scores, whereas no significant associations emerged with the quality of life.</p><p><strong>Interpretation: </strong>The VIDA scale is effective and reliable in providing both insights on the actual needs of children and quantitative measures of the visual impairment impact on everyday life. Autonomy level affects quality of life, whereas visual impairment does not.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006615","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":"A core outcome set to assess chronic pain interference and impact on emotional functioning for children and young people with cerebral palsy.","authors":"Nadine L Smith, Noula Gibson, Christine Imms, Ashleigh L Thornton, Adrienne R Harvey","doi":"10.1111/dmcn.16325","DOIUrl":"https://doi.org/10.1111/dmcn.16325","url":null,"abstract":"<p><strong>Aim: </strong>To: (1) develop a core outcome set (COS) to assess chronic pain interference and impact on emotional functioning for children and young people with cerebral palsy (CP) with varying communication, cognitive, and functional abilities; (2) categorize the assessment tools according to reporting method or observer-reported outcome measures; and (3) categorize the content of tools in the COS according to the International Classification of Functioning, Disability and Health (ICF).</p><p><strong>Method: </strong>A two-stage multi-stakeholder consensus process was used: stage 1 consisted of a workshop where 42 valid and reliable assessment tools were presented to 12 clinicians and six individuals with lived experience of CP to exclude tools considered not feasible; stage 2 consisted of a 2-round Delphi survey of 85 clinicians, researchers, and individuals with lived experience of CP to gain consensus on which tools to include. Included tools were mapped to the framework of the ICF.</p><p><strong>Results: </strong>Twenty of 29 chronic pain assessment tools considered feasible reached 75% or greater consensus for inclusion in the COS. The tools were categorized according to reporting type: patient-reported or observer-reported; and their purpose: to identify the presence of chronic pain, to assess pain interference on activities of daily living, or to assess the impact on emotional functioning.</p><p><strong>Interpretation: </strong>The developed COS guided the assessment of pain interference and impact on emotional functioning for children and young people with CP with a range of communication and cognitive abilities; the COS can be used to facilitate patient-centred care.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144046561","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":"Towards the phenotyping of autism spectrum disorder in children with tuberous sclerosis complex.","authors":"Ilaria Bonemazzi, Caterina Ancora, Veronica Ferasin, Marco Lunghi, Irene Toldo","doi":"10.1111/dmcn.16328","DOIUrl":"https://doi.org/10.1111/dmcn.16328","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051387","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":"Proposed updated description of cerebral palsy","authors":"Bernard Dan,&nbsp;Peter Rosenbaum,&nbsp;Lucinda Carr,&nbsp;Martin Gough,&nbsp;John Coughlan,&nbsp;Nonyelum Nweke","doi":"10.1111/dmcn.16274","DOIUrl":"https://doi.org/10.1111/dmcn.16274","url":null,"abstract":"<p>‘Cerebral palsy’ (‘CP’) is a widely used descriptive label for a spectrum of motor impairments caused by non-progressive brain injury or malformation occurring during early development. Advances in research have significantly refined our understanding of CP, including insights into its genetic, inflammatory, and neurophysiological underpinnings. Research across global contexts, including low- and middle-income countries, has expanded knowledge of clinical features. Shifting societal perceptions, driven by individuals with lived experience, have further influenced how CP is understood, challenging ableist attitudes and promoting inclusive frameworks. Additionally, increased recognition of the needs and experiences of adults with CP has highlighted the importance of further developing appropriate services. The primary aim of this paper is to propose an updated description of CP, developed through a collaborative, multidisciplinary process, as a preliminary formulation that integrates stakeholder perspectives at this stage of the process. By framing it as a foundation for further discussion and refinement, the manuscript emphasizes the output itself rather than the process of its development. A comprehensive stakeholder analysis and mapping approach ensured broad representation, including individuals with CP, families, clinicians, researchers, advocacy groups, and others. Data were collected through surveys, interviews, focus groups, and workshops, facilitating a global dialogue that combined the expertise of those with lived experience with that of clinicians. The description is intended to serve as a preliminary framework to guide clinical practice, research, and policy, emphasizing a shared understanding of CP. The proposed updated description thus lays the foundation for continued refinement, emphasizing the importance of collaboration in advancing the care and inclusion of individuals with CP.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 6","pages":"700-709"},"PeriodicalIF":3.8,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16274","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143938744","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":"Seizures in childhood cerebral adrenoleukodystrophy.","authors":"Nicole Page, Amanda M Nagy, Florian S Eichler, Margie A Ream","doi":"10.1111/dmcn.16321","DOIUrl":"https://doi.org/10.1111/dmcn.16321","url":null,"abstract":"<p><strong>Aim: </strong>To describe seizure prevalence in childhood cerebral adrenoleukodystrophy (CCALD) and the relationship to disease severity/progression.</p><p><strong>Method: </strong>This was a retrospective observational cross-sectional study of patients with CCALD at two leukodystrophy centers between 2008 and 2024 compared to patients with X-linked adrenoleukodystrophy (X-ALD) without cerebral lesions. Patients with CCALD were under 18 years old, had genetically confirmed X-ALD, and had brain magnetic resonance imaging (MRI) consistent with CCALD. Statistics included: descriptive values (mean, median, range) and clinical variables compared using Wilcoxon rank-sum tests for patient age, MRI score, functional status, electroencephalogram (EEG) findings, and seizure characteristics.</p><p><strong>Results: </strong>Of 86 male children with CCALD, 25 (29%) experienced seizures, of whom 22 (88%) received their X-ALD diagnosis after onset of CCALD symptoms, and 45% (10/22) of these were diagnosed directly because of seizure. Seizure severity correlated with worse functional status and MRI/Loes score; no seizures occurred with Loes score less than 6. All reported seizures were motor. In those with seizures with available EEG (n = 15), diffuse slowing was more common than epileptiform discharges (73.3% vs. 26.7% respectively). Of the 53 patients with X-ALD without cerebral involvement, only 5.7% experienced seizures at any age.</p><p><strong>Interpretation: </strong>Seizures in CCALD are not uncommon, indicating that X-ALD should be considered for male children presenting with first-time seizure. Seizures and seizure severity increase with advancing disease.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804704","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":"Professionals and individuals with lived experience of childhood-onset disabilities: Developing networks to improve care","authors":"Rainer Blank,&nbsp;Roslyn Boyd,&nbsp;Christian Schaaf,&nbsp;Sebastian Schroeder","doi":"10.1111/dmcn.16294","DOIUrl":"10.1111/dmcn.16294","url":null,"abstract":"&lt;p&gt;Many countries of the world have made enormous efforts to care for individuals with disabilities, to integrate them into society, to share knowledge, and to build global networks. The Convention on the Rights of Persons with Disabilities (CRPD) has meanwhile become a reference standard for social participation, policy, and politics.&lt;/p&gt;&lt;p&gt;Ecological and economic considerations may challenge these efforts. The UN Committee on the Rights of Persons with Disabilities has found that austerity measures can cause gross and systemic violations of disabled people's human rights. A society is only as strong as how it cares for its most disadvantaged members; we have to advocate and emphasize that society should serve them, learn from them, and treat them as individuals with equal rights and not consider them only as cost factors. We must advocate for a society that fosters networking beyond boundaries. Only by practicing a culture of listening and sharing, by networking, will we understand that ultimately we need each other. Experiencing and strengthening this bond every day also contributes to our own well-being. Only by networking (in the true sense of the word), can we experience that the whole of the world is much greater than the sum of our nations and ourselves.&lt;/p&gt;&lt;p&gt;It is encouraging that interest groups are being established in many countries and that scientific academies like the International Alliance of Academies of Childhood Disability (IAACD) and European Academy of Childhood-onset Disability (EACD) are growing networks of professionals and users, including individuals with lived experience of childhood-onset disability. Networking between different professionals, interdisciplinary research, and consumer-led research and practice has become a worldwide standard. Goal-directed, family-centered research and clinical work ensure effective and efficient care, recognizing individuals with disabilities as partners. It is the implementation of human rights.&lt;/p&gt;&lt;p&gt;Networking starts with searching and finding those who need us, and then to listen, to share, to discuss with them, and to finally include them in all our activities. The conditions to assess, care, and treat individuals with disabilities may differ between Europe and other regions, but the needs and wishes are often the same. The degree to which these needs are met are different in each society. There may be some correlation with income; however, there is also a correlation with each culture's attitude. Referring to the motto of the 2024 EACD conference in Bruges (‘Composing a new symphony’), we might say that in some regions and areas of the world there are symphonies which are already part of the repertoire; whereas in other places, orchestras are still being formed to play a symphony.&lt;/p&gt;&lt;p&gt;In preparation of the 4th joint IAACD–EACD conference, which will be held 24th to 28th June in Heidelberg, we started early to develop networks. Interviews with more than 160 people across 17 cou","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 6","pages":"694"},"PeriodicalIF":3.8,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16294","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804701","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}