Developmental Medicine and Child Neurology最新文献

{"title":"Motor outcomes and visual function in adults born preterm with very low birthweight","authors":"","doi":"10.1111/dmcn.16492","DOIUrl":"10.1111/dmcn.16492","url":null,"abstract":"<p>In this study of two birth cohorts from Finland and Norway, we examined motor outcomes and visual function in adults born preterm (before 37 weeks of gestation) with very low birthweight (VLBW; birthweight equal to or below 1500g) compared with term-born controls of normal birthweight. Previous studies have shown that individuals born with VLBW have higher prevalence of motor difficulties and poorer motor abilities compared with controls. Furthermore, they have poorer visual function, including visual acuity (or sharpness of vision). Since vision plays a key role in motor control, we examined whether visual acuity might explain the poorer motor outcomes in adulthood.</p><p>We assessed motor outcomes and visual function in 118 adults born with VLBW and 147 controls at a mean age of 36 years. Motor outcomes were assessed by using five standardized motor tests. Visual acuity was assessed using the criterion standard. We used motor difficulties (based on clinical cut-offs) and motor abilities (based on continuous scores) as outcome variables with visual acuity as a potential explanatory variable. We found that the adults born preterm with VLBW had more overall, fine, and gross motor difficulties compared with the controls. Furthermore, visual acuity explained part of the link between being born with VLBW and having fine motor difficulties as well as poorer continuous overall, fine, and gross motor scores.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 10","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16492","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977210","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":"Personalized care of paediatric drug-resistant epilepsy in Africa: A single-centre pilot study utilizing mobile health and genetic testing.","authors":"Ian S Olivier, Karen Fieggen, Sandra Komarzynski, Elin H Davies, Irene Muchada, Caitlin McIntosh, Alina Esterhuizen, Richard J Burman, Jo M Wilmshurst","doi":"10.1111/dmcn.16478","DOIUrl":"https://doi.org/10.1111/dmcn.16478","url":null,"abstract":"<p><strong>Aim: </strong>To evaluate personalized care or precision medicine initiatives, including mobile health (mHealth) technology and genetic screening, in a South African paediatric epilepsy clinic.</p><p><strong>Method: </strong>This exploratory prospective observational pilot study included 39 children aged 4 years or older with drug-resistant epilepsy (ongoing seizures despite at least two antiseizure medications at adequate doses). Participants were recruited from the epilepsy service at the Red Cross War Memorial Children's Hospital in Cape Town, the largest paediatric hospital in sub-Saharan Africa. mHealth technology - a wearable device and mobile application - allowed recording of seizures, medication, sleep, mobility, quality of life, and health visits. Genetic testing included a customized gene panel and pharmacogenomic arrays.</p><p><strong>Results: </strong>Seizure frequency, but not duration, was significantly greater in clinical records before and during the study period (8.0 and 5.5 median seizures per month respectively) compared with mHealth records of 2.0 median seizures per month (n = 28, p < 0.001, r = 0.64, 95% confidence interval [CI] 2.62-14.25, Wilcoxon signed-rank test, and n = 21, p < 0.001, r = 0.76, 95% CI 2.25-15.75, Wilcoxon signed-rank test respectively). Wearable devices detected decreased activity and sleep in patients compared with age-matched typically developing peers (both p < 0.001, Mann-Whitney U test). Structural abnormalities were the most common aetiology. Pathogenic variants occurred in two different probands in SCN1A, one likely pathogenic variant in GRIN2A, and two variants of unknown significance in GABRG2 and GRIN2B. Pharmacogenomic analyses identified variants of interest in CYP2D6, EPHX1, and SCN1A.</p><p><strong>Interpretation: </strong>Precision medicine for drug-resistant epilepsy using mHealth and genetics may show use in a resource-limited setting. This study, the first demonstration of precision medicine in an African paediatric setting, informs the development of diagnostic testing and provides novel insights into the lives and genetics of affected children.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977242","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":"Surgical and health outcomes of non-ambulatory children with cerebral palsy and severe scoliosis: A population-based, longitudinal study.","authors":"Svend Vinje, Terje Terjesen, Joachim Horn, Sandra Julsen Hollung, Thomas Kibsgård","doi":"10.1111/dmcn.16473","DOIUrl":"https://doi.org/10.1111/dmcn.16473","url":null,"abstract":"<p><strong>Aim: </strong>To evaluate medium-term surgical outcomes, complications, mortality, and health-related quality of life (HRQoL) in non-ambulatory children with cerebral palsy (CP) and severe scoliosis, and to analyse outcomes and mortality rates in children who had not undergone surgery.</p><p><strong>Method: </strong>Data on non-ambulatory children with CP and severe scoliosis born from 2002 to 2008 were extracted from the Norwegian Quality and Surveillance Registry for Cerebral Palsy. Seventy-five children (44 males, 31 females) were included. Thirty-eight (51%; mean age at surgery 14 years 4 months; SD = 2 years 4 months; range = 8-18 years) underwent surgical correction and posterior spinal fusion, with a mean preoperative Cobb angle of 90° (range = 49°-140°), while 37 (49%) children had non-surgical treatment. HRQoL was measured with the Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD).</p><p><strong>Results: </strong>Eighteen children (47%) had postoperative complications; 5 of 38 (13%) children underwent further surgery. Surgical treatment improved sitting posture and back pain. The mean CPCHILD score was 49.0 (range = 19-84). Among non-surgically treated children, 15 of the 31 children considered too fragile to undergo spinal surgery (48%) died during the follow-up; the mean CPCHILD score for the remaining children was 36.4 points (range = 9-59).</p><p><strong>Interpretation: </strong>Although surgical correction of scoliosis in non-ambulatory children with CP carried a high risk of complications and re-operations, it resulted in improved sitting posture and reduced back pain. Children who were not eligible for surgical treatment had a high mortality rate.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977216","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":"Diagnosis and treatment of occipital brain lesions in children","authors":"","doi":"10.1111/dmcn.16494","DOIUrl":"10.1111/dmcn.16494","url":null,"abstract":"<p>This review focuses on children with damage or developmental abnormalities in the occipital part of the brain—the area mainly responsible for vision. Because these issues can come from many causes (such as stroke, infection, tumors, birth-related injuries, cortical malformations), and often show subtle symptoms, diagnosis can be difficult—especially in very young children.</p><p>Early and accurate diagnosis is key. Vision problems might be the first or only sign that something is wrong and if left untreated, they can affect learning, development, and quality of life. We reviewed both medical literature and real clinical observations from a large children's hospital in Italy to guide pediatricians in recognizing and managing these problems.</p><p>Children with occipital brain lesions may experience seizures, difficulty recognizing faces or objects, vision loss in parts of their visual field, or behaviors that can be mistaken for autism or learning disabilities. Diagnosing these issues correctly requires a team approach, involving neurologists, eye specialists, neuropsychologists, and neuroradiologists. Various tests—including magnetic resonance imaging, full eye exams, electroencephalograms, and specific neuropsychological evaluations—are needed to identify the exact cause.</p><p>Many children can benefit from targeted treatment. This might include medications, surgery (e.g. to treat epilepsy or remove tumors), and vision rehabilitation therapy. In addition, adjusting the child's environment at home and at school—such as using better lighting, reducing visual distractions, and offering multisensory learning tools—can help them manage daily life and improve their ability to learn.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 10","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16494","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977029","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":"Genomics and epilepsy: Opportunities to improve understanding and management.","authors":"Sanjay M Sisodiya","doi":"10.1111/dmcn.16472","DOIUrl":"https://doi.org/10.1111/dmcn.16472","url":null,"abstract":"<p><p>Genomics has advanced our understanding of epilepsy through the discovery of the causes of many hundreds of different individual syndromes and the discovery of common variants contributing to the epilepsy risk. Many genomic research studies and clinical genetic laboratories now use advanced sequencing methods, including whole-genome sequencing studies. Such work generates significant amounts of data beyond a possible causal variant alone and can contain information about more complicated genomic contributions to the phenotype, including oligogenic and polygenic influences, modifiers, risk factors for traits such as postictal psychosis, and pharmacogenomic variants of importance to adverse reactions. Extraction of such data will help improve the characterization of each individual's epilepsy, potentially from diagnosis onwards. Newer methods, such as single-cell studies and combinations of genomic data with other data types are now being used. Genomics may also help protect people with epilepsy from climate change challenges. Opportunities from genomics will continue to enhance our understanding and management of epilepsy.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977138","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":"Genetics of infantile epileptic spasms syndrome in China.","authors":"Zhao Xu, Zongpu Zhou, Genfu Zhang, Jiaxin Zhuang, Yufen Li, Shuang Wang, Siqi Hong, Dan Sun, Jiong Qin, Zhixian Yang","doi":"10.1111/dmcn.16435","DOIUrl":"https://doi.org/10.1111/dmcn.16435","url":null,"abstract":"<p><strong>Aim: </strong>To construct a genetic landscape of infantile epileptic spasms syndrome (IESS) and explore the pathogenic mechanisms of IESS-associated genes.</p><p><strong>Method: </strong>We conducted a nationwide, multicentre, retrospective study across six centres in China, enrolling patients with genetically confirmed IESS between January 2015 and January 2024. Additionally, we reviewed the existing literature, summarized the genetic landscape of IESS, and used bioinformatics approaches to investigate its pathophysiological features.</p><p><strong>Results: </strong>Our cohort included 430 probands with a genetic aetiology of IESS, with 394 of 430 (91.6%) carrying monogenic variants and 36 of 430 (8.4%) carrying copy number variants or chromosome abnormalities. A total of 168 genes were identified in 394 patients (219 males, 175 females; median age at epileptic spasms onset of 5.0 [interquartile range 3.0-7.0] months) with monogenic variants, including 14 genes that are not associated with any phenotypes in the Online Mendelian Inheritance in Man database. We compiled 354 IESS-associated genes from our cohort and the related literature. The functions of these genes are related to membrane potential, synaptic signalling, and several ion channel activities.</p><p><strong>Interpretation: </strong>We comprehensively mapped the genetic landscape of IESS and identified candidate pathogenic genes associated with the disorder.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977107","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":"Visual acuity and motor outcomes in very low birthweight adults: Mediation or shared aetiology?","authors":"Nicole Tsalacopoulos","doi":"10.1111/dmcn.16495","DOIUrl":"https://doi.org/10.1111/dmcn.16495","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977148","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":"Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder","authors":"","doi":"10.1111/dmcn.16490","DOIUrl":"10.1111/dmcn.16490","url":null,"abstract":"<p>Developmental coordination disorder (DCD) is a neurodevelopmental condition characterized by delayed motor development and non-progressive coordination impairments. DCD can be diagnosed in children fulfilling four diagnostic criteria: (1) delayed acquisition or performance of motor skills for age; (2) interference of motor impairments with daily life activities; (3) onset in the early developmental period; (4) absence of an underlying alternative neurological disorder (AltND) explanatory for the symptoms.</p><p>Clinically, the distinction between DCD and AltND based on the observable symptoms (i.e. the phenotype) can be challenging, as many AltNDs present with a phenotype that may fulfill the first three criteria for DCD. Consequently, children with an AltND may initially be mistakenly diagnosed with DCD (i.e. false positive diagnosis) until additional diagnostic examinations reveal an underlying cause for the phenotype.</p><p>In our cohort of 50 patients phenotypically fulfilling the first three criteria for DCD, we investigated whether neurological phenotypic assessment could predict the final diagnosis (DCD, <i>n</i> = 31/50; AltND, <i>n</i> = 19/50). Predictive values were low for both the diagnosis of DCD (52%) as well as for the diagnosis of AltND (21%), with a false positive rate of approximately 79%. A genetic etiology was exposed in 58% of patients ultimately diagnosed with an AltND (<i>n</i> = 11/19). Moreover, statistical comparison of 51 clinical and diagnostic features between children diagnosed with DCD and those with AltND did not reveal any distinguishing parameters.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 10","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16490","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977220","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":"Brain lesion extent, growth, and body composition in children with cerebral palsy","authors":"","doi":"10.1111/dmcn.16488","DOIUrl":"10.1111/dmcn.16488","url":null,"abstract":"<p>This study looked at how brain injuries seen on magnetic resonance imaging relate to growth and body composition in children with cerebral palsy (CP). We followed 124 children aged 18 months to 13 years from across Queensland, Australia, and measured their height, weight, head size, lean mass (muscle and bone), and fat mass and compared it to children with typical development of the same age and sex. We also assessed the size and location of their brain injuries using a new scoring system.</p><p>We found that children with more extensive brain injuries tended to be shorter, weigh less, and have smaller head sizes. However, the amount of lean and fat mass in their bodies was not linked to the size of their brain injury. This suggests that brain injury may affect how children with CP grow, but not necessarily how their body is made up in terms of lean and fat mass.</p><p>We also found that children with more severe movement difficulties (measured by the Gross Motor Function Classification System [GMFCS]) had different growth and body composition patterns. For example, children with the greatest motor impairment (GMFCS level V) gained more fat over time, even if their weight appeared typical for their age. This could have long-term health effects.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 10","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16488","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144976955","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":"Epidemiology of cerebral palsy in Malawi.","authors":"Thembi J Katangwe-Chirwa, Israt Jahan, Aaron Chitedze, Talumba Mankhokwe, Anderson Mughogho, Yamikani Chimalizeni, Macpherson Mallewa, Nadia Badawi, Gulam Khandaker","doi":"10.1111/dmcn.16453","DOIUrl":"https://doi.org/10.1111/dmcn.16453","url":null,"abstract":"<p><strong>Aim: </strong>To describe the epidemiology of cerebral palsy (CP) among children in rural areas of Malawi.</p><p><strong>Method: </strong>This was a cross-sectional study on children with CP younger than 18 years from a rural district registered in the Malawi Cerebral Palsy Register. Community child protection workers, trained as CP key informants, identified children with CP using a population-based approach. A multidisciplinary medical team ascertained the CP diagnosis before registration. The children's baseline characteristics, CP risk factors, and comorbidities were documented. Descriptive and inferential analyses were completed.</p><p><strong>Results: </strong>A total of 911 children were screened (December 2023-June 2024), and 538 were registered (median [interquartile range] age = 5 years 11 months [range: 2 years 7 months-11 years 10 months], 59.3% male). Bilateral spastic CP was the most common type (46.3%), with most children (90.5%) classified in Gross Motor Function Classification System levels III to V. The observed CP prevalence was 1.7 per 1000 children. Perinatal asphyxia (40.5%) and cerebral malaria (12.3%) were the most common 'probable causes'. Institutional deliveries were reported in 95.1% and prolonged or obstructed labour was the most reported labour complication (42.7%).</p><p><strong>Interpretation: </strong>Our findings suggest that preventable causes are the main drivers of CP in Malawi. As such, factors in the health care system that contribute to these causes need to be evaluated.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977125","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}