Developmental Medicine and Child Neurology最新文献

{"title":"Machine learning derived physical activity in preschool children with developmental coordination disorder.","authors":"","doi":"10.1111/dmcn.16223","DOIUrl":"10.1111/dmcn.16223","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":"e56"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878316","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":"Reverse transcriptase inhibitors in Aicardi-Goutières syndrome: A crossover clinical trial.","authors":"","doi":"10.1111/dmcn.16222","DOIUrl":"10.1111/dmcn.16222","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":"e55"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878327","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":"Experiences of health services for adults with cerebral palsy, their support people, and service providers.","authors":"Manjula Manikandan, Claire Kerr, Jennifer Fortune, Michael Walsh, Jennifer Ryan, Aisling Walsh","doi":"10.1111/dmcn.16037","DOIUrl":"10.1111/dmcn.16037","url":null,"abstract":"<p><strong>Aim: </strong>To explore the experiences of health services among adults with cerebral palsy (CP) in Ireland, from the perspectives of adults with CP, their support people, and service providers.</p><p><strong>Method: </strong>A qualitative descriptive study design was used. In-depth semi-structured interviews were conducted between March and August 2021 with adults with CP, people who supported them, and health professionals. Thematic analysis was used to evaluate the data.</p><p><strong>Results: </strong>Twenty-one adults with CP, seven support people (family carer[s], spouse or partner, or friend), and 15 service providers participated in the study. Adults had a mean age of 38 years 5 months (range 22-58 years) and were classified in Gross Motor Function Classification System levels I to V. Five themes were identified from the data: (1) access challenges in adult services; (2) knowledge and understanding of CP; (3) support people's role and care burden; (4) communication and interaction in adult services; and (5) health system challenges.</p><p><strong>Conclusion: </strong>Adults with CP in Ireland face multiple challenges accessing the health services they need. Services were reported to be inadequate, with limited resources and understanding of CP. Participants highlighted a need for system-level interventions, including enhanced training for health professionals to effectively meet the needs of adults with CP.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":"235-244"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11695775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141731540","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":"International consensus definitions for infection-triggered encephalopathy syndromes.","authors":"Hiroshi Sakuma, Terrence Thomas, Carly Debinski, Michael Eyre, Velda X Han, Hannah F Jones, Go Kawano, Vanessa W Lee, Stephen Malone, Toyojiro Matsuishi, Shekeeb S Mohammad, Takayuki Mori, Hiroya Nishida, Margherita Nosadini, Jun-Ichi Takanashi, Masashi Mizuguchi, Ming Lim, Russell C Dale","doi":"10.1111/dmcn.16067","DOIUrl":"10.1111/dmcn.16067","url":null,"abstract":"<p><strong>Aim: </strong>To develop standardized diagnostic criteria for 'infection-triggered encephalopathy syndrome (ITES)' and five specific clinical syndromes of ITES.</p><p><strong>Method: </strong>The draft definitions were based on existing criteria, standardized, and discussed by a panel of international experts using nominal group technique over 18 months to achieve consensus. All criteria use the same format: (1) presence of infection/fever; (2) clinical features including encephalopathy; (3) neuroradiological features on magnetic resonance imaging; (4) exclusion of other causes.</p><p><strong>Results: </strong>We first highlighted differences between ITES and infectious and autoimmune encephalitis, which is the most important differential diagnosis. Consensus was achieved to define five specific ITESs: acute encephalopathy with biphasic seizures and late reduced diffusion; acute necrotizing encephalopathy; mild encephalopathy with a reversible splenial lesion; acute fulminant cerebral oedema; and acute shock with encephalopathy and multiorgan failure. Two further conditions that are currently classified as epilepsy syndromes but have similar features to ITES, namely febrile infection-related epilepsy syndrome and hemiconvulsion-hemiplegia-epilepsy syndrome, are also discussed.</p><p><strong>Interpretation: </strong>The consensus definition is expected to improve awareness of this disease concept, provide diagnostic framework, and facilitate future international research and clinical trials.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":"195-207"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11695768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141983789","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":"Caregiver skills training for caregivers of individuals with neurodevelopmental disorders: A systematic review and meta-analysis.","authors":"","doi":"10.1111/dmcn.16224","DOIUrl":"10.1111/dmcn.16224","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":"e57"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878362","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":"Brain MRI findings in paediatric genetic disorders associated with white matter abnormalities.","authors":"Jaakko H Oikarainen, Oula A Knuutinen, Salla M Kangas, Elisa J Rahikkala, Tytti M-L Pokka, Jukka S Moilanen, Reetta M Hinttala, Päivi M Vieira, Johanna M Uusimaa, Maria H Suo-Palosaari","doi":"10.1111/dmcn.16036","DOIUrl":"10.1111/dmcn.16036","url":null,"abstract":"<p><strong>Aim: </strong>To describe the specific brain magnetic resonance imaging (MRI) patterns of the paediatric genetic disorders associated with white matter abnormalities in Northern Finland.</p><p><strong>Method: </strong>In this retrospective population-based longitudinal study, brain MRI scans accumulated from 1990 to 2019 at Oulu University Hospital, Finland, were assessed. Inclusion criteria were defined as leukodystrophies or genetic diseases with significant white matter abnormalities that did not meet the criteria for leukodystrophy, at least one brain MRI, and age under 18 years at diagnosis.</p><p><strong>Results: </strong>A total of 83 patients (48 males, 35 females) were found with 52 different diseases. The median age at the time of the brain MRI was 22 months (interquartile range [IQR] = 46 months). In 72 (87%) of the children, brain MRIs revealed abnormal findings, including cerebral white matter abnormalities (n = 49, 59%), brainstem signal abnormalities (n = 28, 34%), thinning of the corpus callosum (n = 30, 36%), delayed myelination (n = 11, 13%), and permanent hypomyelination (n = 9, 11%).</p><p><strong>Interpretation: </strong>Symmetrical and bilateral white matter signal patterns of the brain MRI should raise suspicion of genetic disorders when the clinical symptoms are compatible. This study illustrates brain imaging patterns of childhood-onset genetic disorders in a population in Northern Finland and improves the diagnostic accuracy of rare genetic disorders.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":"186-194"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11695792/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141856976","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":"Genetic investigations in cerebral palsy.","authors":"Anna P Basu, Karen Low, Thiloka Ratnaike, David Rowitch","doi":"10.1111/dmcn.16080","DOIUrl":"10.1111/dmcn.16080","url":null,"abstract":"<p><p>The original description of cerebral palsy (CP) contained case histories suggesting that perinatal environmental stressors resulted in brain injury and neurodevelopmental disability. While there are clear associations between environmental impact on brain development and CP, recent studies indicate an 11% to 40% incidence of monogenic conditions in patients given a diagnosis of CP. A genetic diagnosis supports the delivery of personalized medicine. In this review, we describe how the Wnt pathway exemplifies our understanding of pathophysiology related to a gene variant (CTNNB1) found in some children diagnosed with CP. We cover studies undertaken to establish the baseline prevalence of monogenic conditions in populations attending CP clinics. We list factors indicating increased likelihood of a genomic diagnosis; and we highlight the need for a comprehensive, accurate, genotype-phenotype reference data set to aid variant interpretation in CP cohorts. We also consider the wider societal implications of genomic management of CP including significance of the diagnostic label, benefits and pitfalls of a genetic diagnosis, logistics, and cost.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":"177-185"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11695794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114407","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":"Identificação de ingredientes de intervenções não invasivas para crianças deambuladoras com paralisia cerebral usando as minhas palavras favoritas: uma revisão de escopo.","authors":"Hércules Ribeiro Leite, Ricardo Rodrigues de Sousa Junior, Deisiane Oliveira Souto, Jaíza Marques Medeiros E Silva, Arthur Felipe Barroso de Lima, Carolyne de Miranda Drumond, Eliane Beatriz Cunha Policiano, Ariane Cristina Marques, Paula Silva de Carvalho Chagas, Egmar Longo","doi":"10.1111/dmcn.16078","DOIUrl":"10.1111/dmcn.16078","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":"e16-e31"},"PeriodicalIF":3.8,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114408","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":"Multi-system resilience for disabled children and their families during crisis and emergency.","authors":"Tali-Noy Hindi","doi":"10.1111/dmcn.16158","DOIUrl":"https://doi.org/10.1111/dmcn.16158","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973045","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":"Morbidities and comorbidities associated with optic nerve hypoplasia and septo-optic-pituitary dysplasia.","authors":"Michael S Salman, Chelsea A Ruth, Marina S Yogendran, Lisa M Lix","doi":"10.1111/dmcn.16235","DOIUrl":"https://doi.org/10.1111/dmcn.16235","url":null,"abstract":"<p><strong>Aim: </strong>To quantify optic nerve hypoplasia (ONH) and septo-optic-pituitary dysplasia (SOD) morbidities and comorbidities.</p><p><strong>Method: </strong>A retrospective population-based study with a case-control design was undertaken using administrative health data from Manitoba, Canada. Cases were 124 patients with ONH or SOD (70 males, 54 females; age range 6 months-36 years 8 months [mean 13 years, SD 7 years 2 months]) diagnosed from 1990 to 2019, matched to 620 unrelated population-based controls (350 males, 270 females; age range 0-36 years 8 months [mean 12 years 5 months, SD 7 years 2 months]) on birth year, sex, and area of residence. Additionally, 76 cases with ONH or SOD (46 males, 30 females; age range 2 years 5 months-36 years 8 months [mean 13 years 11 months, SD 7 years 3 months]) were matched one-to-one with sibling controls (40 males, 36 females; age range 7 months-33 years 1 month [mean 11 years 8 months, SD 7 years 3 months]). We used χ² or Fisher's exact tests to test for differences in prevalence in morbidities and comorbidities between cases and controls; odds ratios (ORs) with 95% confidence intervals (CIs) were estimated. Cox proportional hazards models were used to test for differences in subgroups of cases; hazard ratios and 95% CIs were estimated.</p><p><strong>Results: </strong>Visual impairment and visual impairment with hypopituitarism were core morbidities associated with ONH and SOD cases respectively compared to unrelated controls (OR = 58.6, 95% CI = 22.5-152.5; OR = 243.4, 95% CI = 32.9-1799.0 respectively). Developmental delay or intellectual disability (OR = 6.9, 95% CI = 3.3-14.4), autism spectrum disorder (OR = 4.0, 95% CI = 2.0-8.3), epilepsy (OR = 14.9, 95% CI = 6.1-36.5), cerebral palsy (OR = 40.9, 95% CI = 14.0-119.6), and mood or anxiety disorders (OR = 1.7, 95% CI = 1.0-2.8) were the comorbidities more common among cases with ONH and SOD. Cases matched to siblings showed similar results except for mood and anxiety disorders.</p><p><strong>Interpretation: </strong>Visual impairment and visual impairment with hypopituitarism are the main morbidities in patients with ONH and SOD respectively, while developmental delay or intellectual disability, autism spectrum disorder, epilepsy, cerebral palsy, and mood or anxiety disorders are important comorbidities.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142980596","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}