Developmental Medicine and Child Neurology最新文献

{"title":"Active upper-limb therapies for hand function, individual goal achievement, and self-care in children with cerebral palsy: A network meta-analysis.","authors":"Andrea Burgess, Mark D Chatfield, Diana Hermith-Ramirez, Michelle Jackman, Megan Thorley, Sarah Reedman, Roslyn N Boyd, Leanne Sakzewski","doi":"10.1111/dmcn.16476","DOIUrl":"https://doi.org/10.1111/dmcn.16476","url":null,"abstract":"<p><strong>Aim: </strong>To compare active upper-limb therapies for children with cerebral palsy using a network meta-analysis.</p><p><strong>Method: </strong>For this systematic review, five electronic databases were searched up to 2nd September 2024. Outcomes pertaining to improved hand use (Assisting Hand Assessment, AHA), goal attainment (Canadian Occupational Performance Measure, COPM), and self-care were analysed with therapies classified into 15 discrete categories.</p><p><strong>Results: </strong>Quantitative analysis of 48 randomized controlled trials (n = 1629) was performed. Compared with control, treatment effect on hand function (AHA mean difference, standard error) was greater for bimanual therapy (BiM: 4.6, 1.0), modified constraint-induced movement therapy (mCIMT; 4.0, 1.0), goal-directed therapy (GDT; 3.8, 1.6), action observation (4.9, 1.1), and mCIMT + intensive (7.4, 2.5). For COPM performance, treatment effect was greater for cognitive orientation to occupational performance (CO-OP; 5.9, 1.4), BiM (3.3, 0.4), mCIMT (2.5, 0.5), GDT (2.3, 0.7), mirror therapy (2.6, 1.2), and mCIMT + GDT (4.2, 1.1). For self-care, treatment effect (standardized mean difference, standard error) was greater for BiM (0.39, 0.10), mCIMT (0.37, 0.08), and mCIMT + GDT (0.43, 0.32).</p><p><strong>Interpretation: </strong>BiM and mCIMT were confirmed as effective interventions for hand function, self-care, and individual goal achievement. Mirror therapy, CO-OP, and four different combination approaches feature single studies, small sample sizes, and high risk of bias, requiring further clinical trials to confirm efficacy.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001885","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":"Socially oriented attention in young children with neurofibromatosis type 1: An eye-tracking study.","authors":"Kristina M Haebich, Darren R Hocking, Hayley Darke, Rachel Mackenzie, Kathryn N North, Giacomo Vivanti, Jonathan M Payne","doi":"10.1111/dmcn.16497","DOIUrl":"https://doi.org/10.1111/dmcn.16497","url":null,"abstract":"<p><strong>Aim: </strong>To examine visual engagement to social stimuli and response to joint attention in young children with neurofibromatosis type 1 (NF1) and typically developing peers (controls).</p><p><strong>Method: </strong>Forty-five preschool children were studied cross-sectionally (mean age [SD] = 4 years 3 months [10 months]), 25 with NF1 and 20 typically developing controls. Participants passively viewed two eye-tracking paradigms. The first measured participants' time to first social fixation and duration of attention to social stimuli. The second assessed response to joint attention by recording the time taken to fixate on the target of an actor's eye gaze and the percentage of time maintaining joint attention.</p><p><strong>Results: </strong>Compared to typically developing controls, children with NF1 were slower to fixate on social information (Cohen's d = 1.03, 95% confidence interval [CI] = 0.40-1.65), spent less time attending to social stimuli (d = -0.60, 95% CI = -1.27 to -0.01), and were slower to establish joint attention (rank-biserial correlation r = -0.49, 95% CI = -0.79 to -0.19). Slower fixation to social stimuli was associated with elevated autism traits (r = 0.41, p = 0.03) and lower social adaptive functioning (r = -0.49, p = 0.02) in children with NF1.</p><p><strong>Interpretation: </strong>Our findings in preschool children build on previous evidence of diminished attention to social information in school-age children with NF1 and could inform early interventions to ameliorate the impact of reduced social attention on everyday social functioning in this population.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001811","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":"Corticosteroid therapy in Duchenne muscular dystrophy: Management and new insights.","authors":"Claudia Brogna, Eugenio Mercuri","doi":"10.1111/dmcn.16485","DOIUrl":"https://doi.org/10.1111/dmcn.16485","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145001852","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 etiologies of the infantile epileptic spasms syndrome: What do we know so far?","authors":"Miriam Kessi, Lifen Yang","doi":"10.1111/dmcn.16412","DOIUrl":"https://doi.org/10.1111/dmcn.16412","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144994282","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":"Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy.","authors":"Marianela Schiava, Utkarsh J Dang, Claire Wood, Sze Choong Wong, Leanne M Ward, Robert Muni Lofra, Anna Mayhew, William B Martens, Stephanie Gregory, Robert C Griggs, Michela Guglieri","doi":"10.1111/dmcn.16437","DOIUrl":"https://doi.org/10.1111/dmcn.16437","url":null,"abstract":"<p><strong>Aim: </strong>To examine the factors influencing height, weight, and body mass index (BMI) z-scores, and the relationship between them and motor performance, in boys with Duchenne muscular dystrophy (DMD).</p><p><strong>Method: </strong>This was a randomized, double-blind, parallel group trial involving 32 study sites across five countries. Height, weight, BMI z-scores, and clinical outcome assessments (COAs)-rise from supine velocity, 10-m walk/run velocity, NorthStar Ambulatory Assessment, and 6-minute walk test-were analysed in 4-year-old to 7-year-old boys with DMD randomized to 0.75 mg/kg/day prednisone, 0.75 mg/kg/day intermittent prednisone, or 0.90 mg/kg/day deflazacort in the FOR-DMD study. Trajectories were modelled using a linear mixed-effects model and correlations were explored through Spearman's partial correlations.</p><p><strong>Results: </strong>In 194 boys with DMD, higher height at glucocorticoid initiation was associated with slower growth (p < 0.001) and older age was associated with increased weight gain (p = 0.001). Glucocorticoid type and regimen influenced height and weight trajectories but not BMI. Changes in height and weight z-scores were negatively correlated with COAs (p < 0.05 in all cases). Correlations were weak 3 years after glucocorticoid initiation and moderate after 5 years (closer to the age of loss of ambulation).</p><p><strong>Interpretation: </strong>Changes in anthropometric measures after glucocorticoid initiation are associated with COA performance and larger correlations closer to the age of loss of ambulation. This emphasizes the need for weight management strategies and discussions that support treatment.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977163","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 suspected of developmental coordination disorder: DCD or not DCD, that is the question.","authors":"Jill G Zwicker","doi":"10.1111/dmcn.16470","DOIUrl":"https://doi.org/10.1111/dmcn.16470","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977188","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 E-words for promoting development and neuroplasticity for infants with or at high risk for cerebral palsy.","authors":"Diane L Damiano","doi":"10.1111/dmcn.16477","DOIUrl":"https://doi.org/10.1111/dmcn.16477","url":null,"abstract":"<p><p>For children with cerebral palsy (CP) who sustain brain insults during early development, animal research on earlier intervention offers the possibility of recovery not yet realized in humans. Inspired by and similar to the F-words in childhood disability, this narrative review aims to highlight essential components for promoting motor and overall development that may be used with or modified for infants with CP to enhance behavioral and neural outcomes, summarized here by seven E-words: earlier, engagement, exploration, enriched environments, experiences, everyday, and exercise. A preliminary list of E-words was used as search terms in combination with 'infant', 'cerebral palsy', or 'development'. Two more E-words emerged during the literature search. Key messages are (1) the developing brain is highly responsive to the quality, quantity, and timing of early sensorimotor experiences, and (2) the infant's active participation is essential to drive this process which is experienced uniquely by each infant and family. The concepts presented through these E-words may stimulate the design of novel intervention strategies or provide new insights for clinical practice. These also have important implications for learning, health, and well-being across the lifespan for those with or without cerebral palsy, as well as setting the stage for the F-words.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977238","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":"Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic.","authors":"Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman-Sagie, Liat Gindes","doi":"10.1111/dmcn.16471","DOIUrl":"https://doi.org/10.1111/dmcn.16471","url":null,"abstract":"<p><strong>Aim: </strong>To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future consultations.</p><p><strong>Method: </strong>This retrospective diagnostic cohort study compared the imaging (neurosonography and intrauterine magnetic resonance imaging) of fetuses evaluated at our FNC between 2009 and 2019, which underwent TOP because of brain anomalies, to the autopsy reports for concordance. The degrees of concordance were full, partial, and discordant.</p><p><strong>Results: </strong>We identified 114 fetuses aborted because of brain anomalies, which underwent autopsy. All consultations were provided at the late stages of pregnancy, with 70% given in the third trimester and a mean gestational age of 29 weeks (range = 18-39, SD = 5). The imaging and autopsy results were fully or partially concordant in 96% of cases. Discordance was found in four fetuses, but termination was considered unjustified in only one. Microscopic evaluation of the fetal brain provided valuable information in 41% of fetuses and changed the diagnosis in 13%.</p><p><strong>Interpretation: </strong>We found excellent concordance between the imaging and autopsy findings. We suggest that an autopsy is crucial for learning and delivering correct consultations to patients and planning their subsequent pregnancies.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977171","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":"Fall experiences of ambulatory children and adults with cerebral palsy: A qualitative study using thematic content analysis.","authors":"Marissa Esterley, Linda E Krach, Kari Pederson, Sandy Callen Tierney, Nathan G Wandersee, Elizabeth R Boyer","doi":"10.1111/dmcn.16474","DOIUrl":"https://doi.org/10.1111/dmcn.16474","url":null,"abstract":"<p><strong>Aim: </strong>To qualitatively assess the causes, adaptations, and psychosocial impact of falls, and solutions for safer environments, as shared by individuals diagnosed with cerebral palsy (CP).</p><p><strong>Method: </strong>Ambulatory adults with CP (n = 165; age median [interquartile range], range: 30 years [25-50], 18-76 years); 101 females, 59 males, five non-binary/not specified) and caregivers of ambulatory children with CP (n = 151; age median [interquartile range], range: 10 years [7-14 years], 5-17 years; 64 females, 83 males, four non-binary/not specified) responded to four open-ended prompts regarding falls. Deductive and inductive thematic content analysis was conducted.</p><p><strong>Results: </strong>Eight themes were identified (psychological, physical, avoidance, adaptation, people, environment, policy, healthcare). Participants elaborated on the causes of falls (aging, physical, mental, environmental, situational), mechanics (most often trips), repercussions (psychological and physical), adaptations, difficulty getting up, and aspirations for themselves and society. Caregivers and adults detailed several adaptations to, or deliberate avoidance of, high-risk situations (e.g. uneven surfaces, crowds). Specific suggestions for environmental accessibility (e.g. more handrails), societal behavioral responses (e.g. give autonomy, be patient), healthcare practice, and policy were made.</p><p><strong>Interpretation: </strong>This study offers deep insights into how individuals with CP navigate the challenges of falls and how people and surroundings both positively and negatively affect their fall-related experiences. Many issues identified were multifactorial, requiring multidimensional, non-ableist solutions. Participants were offered simple, but impactful, actions that could be taken immediately to support the creation of safer physical and psychological environments. More research and clinical practice guidelines are warranted.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144977090","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":"State-of-the-art management of Dravet syndrome.","authors":"Alejandra Vasquez, Elaine C Wirrell","doi":"10.1111/dmcn.16475","DOIUrl":"https://doi.org/10.1111/dmcn.16475","url":null,"abstract":"<p><p>Dravet syndrome is a severe developmental and epileptic encephalopathy caused by heterozygous, loss-of-function, pathogenic variants in the SCN1A gene. It is characterized by frequent, often prolonged convulsive seizures. Dravet syndrome is associated with diverse comorbid conditions, including developmental impairment, intellectual disability, and behavioral disturbances, in addition to high mortality rates. Prompt diagnosis and treatment initiation are essential to reduce seizure frequency, status epilepticus, and potentially improve neurodevelopmental outcomes. Currently available therapies such as fenfluramine, stiripentol, and cannabidiol have demonstrated significant reduction in convulsive seizure frequency, based on randomized controlled trials and real-world studies; however, they have not markedly affected non-seizure symptoms. Emerging therapies such as genetic modulation are promising given their potential for disease modification, seizure frequency reduction, and improvement of non-seizure outcomes. This review of observational studies and randomized clinical trials provides an overview of the natural history of Dravet syndrome, current treatment guidelines with recently approved medications, addressing both safety and efficacy, and new therapeutic approaches, including disease-modifying therapies. The therapeutic landscape in Dravet syndrome is evolving, with the use of new antiseizure agents and precision therapies that target the SCN1A variant. Goals of treatment include improvement of seizure burden, neurodevelopment, comorbidities, and quality of life in individuals with Dravet syndrome.</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":"144977245","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}