Developmental Medicine and Child Neurology最新文献

{"title":"The Cognitive Orientation to daily Occupational Performance approach in childhood-onset disabilities.","authors":"Hortensia Gimeno, Helene Polatajko","doi":"10.1111/dmcn.16260","DOIUrl":"https://doi.org/10.1111/dmcn.16260","url":null,"abstract":"<p><p>The Cognitive Orientation to daily Occupational Performance (CO-OP) approach, a goal-oriented intervention focused on participation, is designed to improve performance by addressing personal goals important to children and their families. Introduced in 2001, CO-OP involves client-chosen functional goals, identifying performance issues through a process of dynamic performance analysis, and guiding the discovery of cognitive strategies to enhance skill acquisition, all within a problem-solving framework. The objectives of the approach are skill acquisition, strategy use, generalization, and transfer of learning. Developed within a research paradigm, a review of the literature indicates that CO-OP research has expanded, documenting its use across various paediatric populations, including children with neurodevelopmental disorders, cerebral palsy, and movement disorders, addressing a myriad of functional goals. In this review we illustrate the iterative development of CO-OP from single-case experimental designs to randomized controlled trials to evaluate the approach. The Canadian Occupational Performance Measure and the Performance Quality Rating Scale are the most common outcome measures. Methodological advancements, limitations, and an initial exploration of mechanisms of action are discussed, providing a foundation for further research and clinical application. Recommendations include the use of consistent measures, robust longitudinal studies, implementation research, and health economic analyses.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544393","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":"Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review.","authors":"Emily A Innes, Velda X Han, Shrujna Patel, Michelle A Farrar, Deepak Gill, Shekeeb S Mohammad, Russell C Dale","doi":"10.1111/dmcn.16273","DOIUrl":"https://doi.org/10.1111/dmcn.16273","url":null,"abstract":"<p><strong>Aim: </strong>To review the aetiopathogenesis of infantile epileptic spasms syndrome (IESS) and mechanisms of action of adrenocorticotrophin hormone (ACTH)/corticosteroids established in humans.</p><p><strong>Method: </strong>MEDLINE, PubMed, and Embase were systematically searched from inception to December 2023 to identify studies related to IESS aetiology and treatment response. Mechanistic themes were identified and through consensus meetings refined and grouped into five overarching hypotheses.</p><p><strong>Results: </strong>Five hypotheses were generated from 17 mechanistic themes: (1) gene and epigenetic regulation altering expression of 'vulnerability' genes; (2) stress and hypothalamic-pituitary-adrenal axis activation; (3) neuroinflammation and altered immune function; (4) altered neuronal transmission and pathways; and (5) dysfunction of metabolic pathways.</p><p><strong>Interpretation: </strong>The evidence that ACTH/corticosteroids alter these processes remains limited. It is plausible that these processes interact with one another, rather than existing independently, and affect maturational and regulatory processes in the central nervous system, consistent with proposals that IESS is a neurodevelopmental disorder. Understanding how ACTH/corticosteroids work in IESS may facilitate disease-modifying treatments and improve neurodevelopmental outcomes.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143527998","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":"Recent trends in National Institutes of Health funding for cerebral palsy lifespan research.","authors":"Simon G Keep, Donna Omichinski, Mark D Peterson","doi":"10.1111/dmcn.16281","DOIUrl":"https://doi.org/10.1111/dmcn.16281","url":null,"abstract":"<p><strong>Aim: </strong>To determine the landscape of recent National Institutes of Health (NIH) funding for cerebral palsy (CP)-related research regarding lifespan issues.</p><p><strong>Method: </strong>This longitudinal study examined NIH funding for CP-related research between 2014 and 2023, particularly focusing on lifespan issues. We searched NIH databases Research Portfolio Online Reporting Tools Expenditures and Results, and Research, Condition, and Disease Categorization for keyword 'cerebral palsy'. We classified grants by type and area of study.</p><p><strong>Results: </strong>From 2014 to 2023, CP NIH funding averaged US$22.7 million per year, not adjusted for inflation, for a total cost of US$226.7 million. This supported research pertaining to treatments/early interventions (51.0% of total), causes/mechanisms/risk factors (22.6%), and screening/early detection/diagnosis (9.6%). Infrastructure/surveillance funding was 6.6%, whereas services/implementation research received 7.9%. Funding for lifespan/adulthood CP research represented only 2.3% of funding. Annual NIH funding for CP increased steadily over the period from US$22.0 million in 2014 to US$24.8 million in 2023; however, funding focused on lifespan studies has been relatively unchanged, never rising above US$0.91 million.</p><p><strong>Interpretation: </strong>While NIH funding for CP studies increased over the study period, lifespan studies have not. Additional research funds are needed to improve the clinical care and understanding of lifespan needs faced by individuals living with CP.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517254","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":"The immigration paradox in cerebral palsy: More and better data are needed.","authors":"Marcelo L Urquia, M. Florencia Ricci","doi":"10.1111/dmcn.16292","DOIUrl":"10.1111/dmcn.16292","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517255","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":"Cranial ultrasound in neonatal brain infections.","authors":"Roosmarijn G Licht-van der Stap, Linda S de Vries, Ana Alarcon, Paul Govaert, Sylke J Steggerda","doi":"10.1111/dmcn.16279","DOIUrl":"https://doi.org/10.1111/dmcn.16279","url":null,"abstract":"<p><p>Infection of the neonatal central nervous system (CNS) can cause irreversible brain damage. Cranial ultrasound is an important neuroimaging modality in the neonatal period for detecting brain injury. Several types of organism can cause neonatal CNS infection. The aim of this narrative review is to provide an overview of the most common and typical ultrasonographic features of neonatal CNS infections and their evolution over time. Different microorganisms cause characteristic brain injury patterns. Using numerous imaging examples, we explain the different injury patterns caused by several Gram-positive and Gram-negative microorganisms, fungi, and viruses. This can guide the clinician to appropriate diagnosis and treatment.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494473","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":"Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders.","authors":"Russell C Dale, Shekeeb Mohammad, Velda X Han, Hiroya Nishida, Himanshu Goel, Stuart G Tangye, Georgina Hollway, Esther Tantsis, Deepak Gill, Shrujna Patel","doi":"10.1111/dmcn.16276","DOIUrl":"https://doi.org/10.1111/dmcn.16276","url":null,"abstract":"<p><p>We report eight children with de novo pathogenic DNA variants in chromatin-related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B. All children experienced infection or vaccine-provoked neuroregression or abrupt-onset neuropsychiatric syndromes. Most had delayed development (n = 6) before the first regression, and four had immune deficiency or autoimmunity (n = 4). At a mean age of 4 years 2 months (range 1-8 years), symptoms included infection-provoked autistic/language regression (n = 6), cognitive decline (n = 3), gait deterioration (n = 3), or abrupt-onset anxiety, obsessive-compulsive disorder, and/or tics (n = 5). Three children had ongoing infection-provoked deteriorations. Six children benefited from intravenous immunoglobulin (n = 3) or antibiotics (n = 4). Ribonucleic acid expression of the eight chromatin genes was similar in neuronal, glial, and peripheral leukocytes, unlike non-chromatin neurodevelopmental genes, which have predominantly neuronal expression. These cases demonstrate the role of chromatin dysregulation in autistic regression and abrupt-onset neuropsychiatric syndromes, potentially related to brain and immune gene dysregulation.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143477229","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":"The AI-augmented clinician: Are we ready?","authors":"Bernard Dan","doi":"10.1111/dmcn.16291","DOIUrl":"10.1111/dmcn.16291","url":null,"abstract":"&lt;p&gt;Artificial intelligence (AI) will soon become indispensable across many aspects of health care and across all disciplines. A growing body of research suggests that AI-driven analysis of complex data sets has the potential to enhance diagnostics, optimize management strategies, and improve outcome measurement, ultimately enabling more personalized care.&lt;span&gt;&lt;sup&gt;1-3&lt;/sup&gt;&lt;/span&gt; The outlook in the literature has so far largely been optimistic, often describing AI's progress as ‘promising’, although several risks have been highlighted. One major concern is the potential decline in clinical competence if clinicians rely too heavily on AI at the expense of hands-on clinical observation and reasoning. Another significant challenge is the phenomenon known as AI ‘hallucinations’, where AI-generated information appears credible but is, in fact, incorrect or nonsensical. This issue is particularly concerning if clinicians fail to verify AI outputs thoroughly against established clinical guidelines and their own expertise. Similar considerations apply to research and academic publication, which AI is also transforming, while the principles of integrity and human responsibility and accountability remain paramount.&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;The anticipated evolution of health care envisions a collaborative model in which human expertise and AI-driven technology work in tandem for the benefit of patients. The prevailing assumption is that AI will empower health care professionals to deliver more accurate, efficient, and personalized care; while human judgment, empathy, and ethical decision-making will continue to play a crucial role in ensuring that technology serves patients effectively. It is widely hypothesized that AI will perform many tasks more efficiently and accurately than unaided humans, yet human decision-making, when informed by AI, is ultimately more reliable and relevant than either alone. Studies using various methodologies have confirmed the first hypothesis, demonstrating that AI technologies can surpass health professionals in certain tasks, including diagnosing complex clinical cases. However, multiple studies have documented that AI alone can significantly outperform clinicians who use AI-assisted tools. For instance, a recent randomized clinical trial examined physicians' diagnostic reasoning on challenging cases, comparing those who used conventional diagnostic resources alone versus those who supplemented their approach with a large language model chatbot (a machine-learning model designed to understand and generate human-like text).&lt;span&gt;&lt;sup&gt;5&lt;/sup&gt;&lt;/span&gt; Regardless of the physicians' level of training and experience, AI alone significantly outperformed those using AI as an adjunct.&lt;/p&gt;&lt;p&gt;These findings should not be interpreted as a call for AI to function autonomously in diagnosis without physician oversight. Instead, they may reflect how clinicians interact with AI tools. Large language models are highly sensitive to user","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 5","pages":"554-555"},"PeriodicalIF":3.8,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16291","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143477231","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":"Functioning and activity outcomes of the Akwenda Intervention Program for children and young adults with cerebral palsy in Uganda: A cluster-randomized trial","authors":"","doi":"10.1111/dmcn.16290","DOIUrl":"10.1111/dmcn.16290","url":null,"abstract":"<p>This study looked at whether the Akwenda Intervention Program, specially developed for low-resource settings, could help children and young adults with cerebral palsy (CP) do better in their daily activities.</p><p>The study involved 100 children and young adults, ages 2 to 23 years, from rural Eastern Uganda. Half of them took part in the Akwenda Intervention Program, while the other half waited without the program. Researchers used two tools to measure how the children were doing before and after the program, looking at things like movement, mobility, self-care skills, and social interaction.</p><p>The children who participated in the program showed bigger improvements compared to the group that did not. They got better at interacting with others, taking care of themselves, and performing basic physical movements. The biggest improvement was seen in how much help they needed from caregivers, meaning they became more independent.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 4","pages":"e95"},"PeriodicalIF":3.8,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16290","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473197","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":"Safety and effectiveness of stiripentol in patients with Dravet syndrome: A prospective, 3-year, postmarketing surveillance study","authors":"","doi":"10.1111/dmcn.16285","DOIUrl":"10.1111/dmcn.16285","url":null,"abstract":"<p>To conduct a postmarketing surveillance study of patients with Dravet syndrome in Japan to investigate the safety and effectiveness of long-term, real-world, clinical use of stiripentol (STP), an oral antiseizure medication. Dravet syndrome, one of the epilepsy syndromes most resistant to treatment,¹ is characterized by disease onset in the first year of life and repeated episodes of seizures. Developmental delay and ataxia (poor muscle control causing clumsy movements) emerge after the first year of life.</p><p>This prospective study was conducted over 156 weeks in all patients with Dravet syndrome who started STP treatment from its launch in Japan in November 2012 until August 2017. Adverse drug reactions (ADRs) were investigated by degree of seriousness. Effectiveness was determined based on a comprehensive assessment by the physician in charge as well as on the percent change in the number of seizures from the pretreatment period.</p><p>In total, 520 patients (266 males/254 females; mean age 10 years 6 months; age range 0–50 years) were included in the safety analysis set (all patients taking one dose of the study drug), and 515 patients in the effectiveness analysis set (that compares the costs and effects of alternative health interventions). ADRs occurred in 69.2%, including somnolence (strong desire for sleep or sleeping for unusually long periods), decreased appetite, dizziness, in order of frequency. Twelve deaths occurred, the rate of which was not higher than the reported rates. No new safety concerns were identified. The rate of overall improvement (marked or moderate) after 156 weeks or at treatment discontinuation was 37.7%. Decreases in the number of all seizure types over the long term were confirmed.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 4","pages":"e92"},"PeriodicalIF":3.8,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16285","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143473198","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":"Reducing epilepsy diagnostic and treatment gaps: Standardized paediatric epilepsy training courses for health care professionals","authors":"","doi":"10.1111/dmcn.16284","DOIUrl":"10.1111/dmcn.16284","url":null,"abstract":"<p>Epilepsy is the most common serious chronic childhood neurological disorder, with 80% of individuals living with epilepsy in low- and middle-income countries.</p><p>Since 2005, Paediatric Epilepsy Training (PET) courses have been taught by the British Paediatric Neurology Association (BPNA), a charitable organization of neurologists, paediatricians, and allied health care professionals. The courses aim to improve the diagnosis and management of children with epilepsy. They have been taught internationally since 2012 in 17 countries across five continents. From 2005 until September 2021, over 14 000 participants attended PET courses.</p><p>PET1 is an entry level course for all health care professionals who look after children with suspected epilepsy. Course participants are primarily paediatricians, medical officers, or specialist nurses. It is a one-day course with a standardized curriculum that teaches evidence-based best practice.</p><p>Course evaluation is an integral component of PET1. This study reports the findings, using a well-established evaluation framework, of 250 PET1 courses delivered in 17 countries over 15 years. Data were gathered from participants immediately after the course and then 6 months later.</p><p>Ninety-eight per cent of participants reported that the PET course improved their clinical practice. For example, over 70% of responders reported improvements in both their ability to take a thorough medical history and their ability to distinguish between epileptic and non-epileptic seizures, which require very different treatment plans. Sixty-four per cent of participants reported that the PET course prompted improvements beyond their personal practice and into their wider clinical service. These included improved management of prolonged seizures and starting dedicated epilepsy clinics. Improvements in knowledge and clinical practice were most notable in low-resource settings.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 4","pages":"e91"},"PeriodicalIF":3.8,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16284","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469887","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}