Developmental Medicine and Child Neurology最新文献

{"title":"General Movements Assessment and Hammersmith Infant Neurological Examination for early diagnosis of cerebral palsy in infants born at term treated with therapeutic hypothermia","authors":"","doi":"10.1111/dmcn.16298","DOIUrl":"10.1111/dmcn.16298","url":null,"abstract":"<p>Cerebral palsy (CP) is the most common movement disability in children. A common cause of CP is neonatal encephalopathy which results from injury to the developing brain during pregnancy, birth, or shortly after birth. Research has shown that using therapeutic hypothermia (cooling infants) who show signs of neonatal encephalopathy can decrease brain injury. However, despite therapeutic hypothermia, infants are still at-risk for CP and it remains crucial to diagnose CP as early as possible to begin therapy. Our project explored if the use of two types of physical exams, the General Movements Assessment (GMA) and the Hammersmith Infant Neurological Examination (HINE), help predict CP in infants born at term with neonatal encephalopathy who underwent therapeutic hypothermia.</p><p>To achieve this goal, we conducted a study looking at 112 infants in our hospital who met specific qualifications for neonatal encephalopathy who underwent therapeutic hypothermia from 2018 to 2022. These infants were then followed-up in our Neonatal Follow-Up clinic at 3, 6, and 9 months of age. Trained physicians and therapists used observation of infant movements for the GMA at 3-month follow-up, and examined infant's posture, tone, reflexes, and movements characterized into a scoring system for the HINE at each follow-up. We used statistical analysis to determine if these exams could help predict CP.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 5","pages":"e98"},"PeriodicalIF":3.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16298","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626736","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":"Biopsychosocial factors and participation in adults with developmental coordination disorder: A structural equation modelling analysis.","authors":"Shahar Zaguri-Vittenberg, Naomi Weintraub, Miri Tal-Saban","doi":"10.1111/dmcn.16302","DOIUrl":"https://doi.org/10.1111/dmcn.16302","url":null,"abstract":"<p><strong>Aim: </strong>To examine the effect of developmental coordination disorder (DCD) on biological (executive function deficit) and psychosocial (low self-esteem and social support) challenges, and the possible mediating effect of these biopsychosocial factors on the relationship between DCD and daily participation, including assistance in performance, performance level, pleasure in daily activities, and global occupational experience.</p><p><strong>Method: </strong>Fifty-five young adults with DCD (28 females; mean age [SD] = 27 years 7 months [3 years 7 months]) and 66 peers without DCD (34 females; mean age [SD] = 27 years 3 months [3 years 8 months]) were included in this structural equation modelling analysis study. Direct and indirect effects were tested using structural equation modelling.</p><p><strong>Results: </strong>DCD had a significantly negative direct effect on all biopsychosocial factors, the need of assistance in performance, and performance level. Self-esteem and social support mediated the effect of DCD on all participation dimensions, while executive function only mediated the effect on performance level and global occupational experience.</p><p><strong>Interpretation: </strong>Results suggest that participation adversities are not only the result of the motor deficits of individuals with DCD, but are also affected by their poor self-esteem, social support, and executive function. Hence, tailored interventions for this population, targeting daily participation, should consider the range of biopsychosocial risk factors affecting these individuals.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626730","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":"Childhood disabilities, household poverty, and inequality: A population-based case-control study in rural Bangladesh.","authors":"Israt Jahan, Tasneem Karim, Risad Sultana, Genevieve Perrins, Mahmudul Hassan Al Imam, Mohammad Muhit, Nadia Badawi, Gulam Khandaker","doi":"10.1111/dmcn.16272","DOIUrl":"https://doi.org/10.1111/dmcn.16272","url":null,"abstract":"<p><strong>Aim: </strong>To explore the relationship between household poverty, inequality, and disability among children in rural Bangladesh.</p><p><strong>Method: </strong>This was a matched case-control study in Shahjadpur, northern Sirajganj, Bangladesh. Children aged younger than 18 years with disabilities (i.e.</p><p><strong>Cases: </strong>those with cerebral palsy, spina bifida, hydrocephalus, muscular dystrophy, spinal cord injury, amputation, club foot, cleft lip or palate, trauma or burn-related injury or impairment, congenital deformity, genetic condition, and visual, hearing, and speech impairments) and age-, sex-, and location-matched children without disabilities (i.e. controls) were recruited. Cases were identified using the key informant method. Household poverty likelihood and socioeconomic status (SES) were assessed using a validated poverty scorecard. Descriptive and inferential analyses were completed.</p><p><strong>Results: </strong>Between October 2017 and February 2018, 1274 cases and 1303 controls were recruited (median age at assessment 9 years 10 months [interquartile range 6 years 0 months-13 years 7 months] and 9 years 10 months [5 years 8 months-12 years 0 months] respectively). The household poverty likelihood was 7% higher among cases than controls (p < 0.001). Parental employment, family income, and school enrolment rate were significantly lower among cases than controls especially in the families with low SES. Both underweight and stunting were significantly higher among cases than controls (p < 0.001 for both). Receipt of rehabilitation services and health-care seeking from formal sectors were significantly lower among cases from families with low SES than high SES (60% vs. 71%, p = 0.03; 10% vs. 33%, p < 0.001 respectively).</p><p><strong>Interpretation: </strong>Our findings are crucial to develop interventions and reduce the inequalities between children with and without disabilities in low-resource settings such as Bangladesh as highlighted in the global agenda of the Sustainable Development Goals.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587874","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":"Deep developmental phenotyping in children with tuberous sclerosis complex, with and without autism.","authors":"Rebecca A Mitchell, Francesca Lami, Sarah M Barton, A Simon Harvey, Katrina Williams","doi":"10.1111/dmcn.16293","DOIUrl":"https://doi.org/10.1111/dmcn.16293","url":null,"abstract":"<p><strong>Aim: </strong>To characterize autism and co-occurring tuberous sclerosis-associated neuropsychiatric disorders (TAND) in children with tuberous sclerosis complex (TSC), addressing evidence gaps by using deep developmental phenotyping in a single cohort.</p><p><strong>Method: </strong>This cohort study assessed autism characteristics, intelligence, adaptive function, language, and co-occurring conditions, using multidisciplinary direct assessment, in 50 children with TSC, comparing those with and without autism.</p><p><strong>Results: </strong>Autistic children (28, 56%) had moderate mean scores for autistic characteristics (Autism Diagnostic Observation Schedule calibrated severity scores; social affect, 6.9 [standard deviation 2.5]; restricted and repetitive behaviour, 7.1 [standard deviation 2.3], but with considerable variation). Autistic children were more likely to be male (54% vs. 18%) and have intellectual disability (79% vs. 32%), language impairment (89% vs. 50%), executive dysfunction (70% vs. 29%), and externalizing behaviours (46% vs. 14%). Inattentive attention-deficit/hyperactivity disorder (ADHD) symptoms were frequent in autistic and not-autistic children (74% vs. 78%), and not influenced by intellectual ability. Language impairment occurred in 27% without autism or intellectual disability.</p><p><strong>Interpretation: </strong>TAND are complex and heterogenous in children with and without autism. Formal assessment of language function and ADHD symptoms should be considered in all children with TSC, regardless of autism categorization or intellectual ability. Language function needs greater consideration within TAND levels and clusters.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143573788","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 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}