{"title":"Seizures in childhood cerebral adrenoleukodystrophy","authors":"","doi":"10.1111/dmcn.16373","DOIUrl":"10.1111/dmcn.16373","url":null,"abstract":"<p>Leukodystrophies are a group of genetic conditions causing white matter degeneration in the brain. X-linked adrenal leukodystrophy (X-ALD) is the most common leukodystrophy. Approximately one-third of young males with X-ALD develop severe brain disease in childhood, which is known as childhood cerebral X-ALD (CCALD). Young males with CCALD can experience seizures that lead to diagnosis or after the disease is diagnosed and has progressed.</p><p>In this study we aimed to describe how often seizures occur in patients with CCALD and how seizures relate to disease severity. We included patients seen at two leukodystrophy centers (Massachusetts General Hospital and Nationwide Children's Hospital) between 2008 and 2024. Ours is the largest study of young males with CCALD and seizures and provides new information regarding when seizures occur in CCALD.</p><p>We found that X-ALD without brain disease does not increase the risk of seizures. Seizure severity increases as brain disease progresses. Seizure severity correlated with worse functional status and magnetic resonance imaging/Loes score; no seizures occurred with Loes scores less than 6. This is important because treatment with stem cell transplant or gene therapy is especially effective for Loes scores less than or equal to 9.</p><p>Of the 86 young males with CCALD in our study, 25 (29%) experienced seizures. Of these 25, 22 were diagnosed with CCALD after seizures started, and 10 of these were diagnosed directly as a result of their seizure(s). Electroencephalogram in patients with CCALD with seizures was more likely to show diffuse slowing than epileptiform discharges (73.3% vs 26.7% respectively), making clinical symptoms the most important factor in diagnosing seizures or epilepsy in these patients. All seizures in CCALD in our study were motor seizures. But staring spells should still be discussed with neurologists as they could be a result of inattention related to processing disorders or a sign of seizures.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 8","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16373","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235836","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":"Meaningful change in developmental and epileptic encephalopathy: Ask the caregiver.","authors":"Anup Patel","doi":"10.1111/dmcn.16382","DOIUrl":"https://doi.org/10.1111/dmcn.16382","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144217449","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}
Ruth J Barta, Cheryl Tveit, Heather Comstock, Lily Collison, Elizabeth R Boyer, Martin Lacey, Tom F Novacheck
{"title":"A new resource for patients and families with craniosynostosis.","authors":"Ruth J Barta, Cheryl Tveit, Heather Comstock, Lily Collison, Elizabeth R Boyer, Martin Lacey, Tom F Novacheck","doi":"10.1111/dmcn.16366","DOIUrl":"https://doi.org/10.1111/dmcn.16366","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152725","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":"Navigating mobility equity: Insights and challenges in device utilization for children with cerebral palsy.","authors":"Charmhun Jo","doi":"10.1111/dmcn.16367","DOIUrl":"https://doi.org/10.1111/dmcn.16367","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144112732","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":"Idiopathic Scoliosis: Understanding and managing the condition: A practical guide for families, By Tenner J. Guillaume, Walter H. Truong, Danielle Harding, Michaela Hingtgen, The VanGoethem Family Gillette Children's Healthcare Series. St Paul, MN: Gillette Children's Healthcare Press, 2024, £45.00 (paperback), £10.00 (eBook), pp. 230, ISBN: 978–1952181115","authors":"Stefano Negrini, Carmelo Pulici","doi":"10.1111/dmcn.16349","DOIUrl":"https://doi.org/10.1111/dmcn.16349","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 8","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144582394","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 Visual Impairment Developmental Autonomy scale: Challenges in the assessment of children with visual impairment.","authors":"Carey Matsuba","doi":"10.1111/dmcn.16364","DOIUrl":"https://doi.org/10.1111/dmcn.16364","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081825","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":"Seizures in childhood cerebral adrenoleukodystrophy: New insights and remaining knowledge gaps.","authors":"Samuel Groeschel, Hendrik Rosewich","doi":"10.1111/dmcn.16352","DOIUrl":"https://doi.org/10.1111/dmcn.16352","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081824","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}
Jenny Downs, Sophie Haywood, Natasha N Ludwig, Mary Wojnaroski, Rebecca Hommer, Kelly Muzyczka, JayEtta Hecker, Gabrielle Conecker, Jessica Keeley, Anne T Berg
{"title":"Caregiver-reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed-methods design.","authors":"Jenny Downs, Sophie Haywood, Natasha N Ludwig, Mary Wojnaroski, Rebecca Hommer, Kelly Muzyczka, JayEtta Hecker, Gabrielle Conecker, Jessica Keeley, Anne T Berg","doi":"10.1111/dmcn.16363","DOIUrl":"https://doi.org/10.1111/dmcn.16363","url":null,"abstract":"<p><strong>Aim: </strong>To investigate how caregivers of children with developmental and epileptic encephalopathy and severe developmental impairments describe meaningful change for functional domains and why it is important.</p><p><strong>Method: </strong>This was a convergent mixed-methods design study. A survey was completed by 267 parents of children aged 12 months or older. For prioritized functional domains (communication, gross motor, fine motor, eating), parents reported the smallest improvement that would be important and explained why. Data were analyzed using directed content analysis and meaningful change codes were mapped to impairment levels.</p><p><strong>Results: </strong>The median age of the children was 8 years 8 months (interquartile range 4 years 2 months-14 years 6 months) and 149 (55.8%) were female. Content analysis yielded 86 meaningful change codes. Common codes described capacity to communicate preferences and emotions, gain sitting and walking skills, grasp objects for play, eat foods without choking, or using utensils. Some codes were reported for each impairment level (e.g. communicating needs/wants/likes for expressive communication); others were specific to an impairment level (e.g. gaining head control if unable to walk). Meaningful change was anticipated to affect health, independence and safety, care regimens, and quality of life of affected individual and families.</p><p><strong>Interpretation: </strong>The meaningful change codes indicate critical components within domains for evaluations in clinical trials.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144081822","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}
Julie A Stutzbach, Cristina A Sarmiento, Tanya S Kenkre, Joyce L Oleszek, Stephen R Wisniewski, Mary Gannotti
{"title":"Chronic lower back pain in adults with cerebral palsy: Stigma, anxiety, and physical decline.","authors":"Julie A Stutzbach, Cristina A Sarmiento, Tanya S Kenkre, Joyce L Oleszek, Stephen R Wisniewski, Mary Gannotti","doi":"10.1111/dmcn.16357","DOIUrl":"https://doi.org/10.1111/dmcn.16357","url":null,"abstract":"<p><strong>Aim: </strong>To determine the biopsychosocial factors associated with pain interference and pain intensity in adults with cerebral palsy (CP) and chronic lower back pain (LBP).</p><p><strong>Method: </strong>This study was a cross-sectional data analysis of a community survey examining function and chronic pain in adults with CP. We examined bivariate relationships and built two regression models with pain interference with general activities and pain intensity as the dependent variables and biopsychosocial factors as explanatory factors.</p><p><strong>Results: </strong>We included 295 participants (75 males, 203 females, two transgender, 14 non-conforming) with CP and LBP in our analyses. The mean age was 43 years 2 months; 81% were ambulatory and pain was present for mean 17 years 11 months [SD 13 years 5 months]. Ordinary least squares regression models indicated greater pain interference with change in best motor function since childhood (95% confidence interval [CI] = 0.47-1.96; p = 0.002), stigma (95% CI = 0.02-0.15; p = 0.01), and higher anxiety (95% CI = 0.02-0.11; p = 0.01; n = 238; adjusted R<sup>2</sup> = 0.17); and greater pain intensity with lower income (95% CI = -1.07 to -0.19; p = 0.01), Hispanic or Latino ethnic group (95% CI = 0.06-2.17; p = 0.04), higher anxiety (95% CI = 0.01-0.06; p = 0.01), and less satisfaction with social roles (95% CI = -0.10 to -0.04; p < 0.001; n = 290; adjusted R<sup>2</sup> = 0.16).</p><p><strong>Interpretation: </strong>These findings emphasize the importance of interpreting chronic pain in the context of biopsychosocial factors, particularly anxiety, stigma, ethnic group, income, satisfaction with social roles, and physical functional decline.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057455","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}
Hyunjoon Kim, Marie M Kelly, Xiwen Su, Claudio L Ferre
{"title":"Transcranial direct current stimulation and motor function in children with cerebral palsy: A systematic review and meta-analysis.","authors":"Hyunjoon Kim, Marie M Kelly, Xiwen Su, Claudio L Ferre","doi":"10.1111/dmcn.16365","DOIUrl":"https://doi.org/10.1111/dmcn.16365","url":null,"abstract":"<p><strong>Aim: </strong>To provide meta-analytical evidence regarding the effects of transcranial direct current stimulation (tDCS) on motor function in children with cerebral palsy (CP) across different stimulation protocols.</p><p><strong>Method: </strong>Using JBI methodology, we applied a random effects model to quantify motor function changes after tDCS. Moderator analyses examined the impact of electrode polarity and stimulation site. Subgroup analyses evaluated the impact of therapy inclusion and the number of sessions.</p><p><strong>Results: </strong>tDCS improved motor function in children with CP (Hedges' g = 0.53; 95% confidence interval [CI] = 0.24-0.81). Moderator analyses revealed statistically significant efficacy of anodal tDCS (Hedges' g = 0.73; 95% CI = 0.45-1.02), especially applied to the primary motor cortex (M1) (Hedges' g = 0.81; 95% CI = 0.52-1.11). Subgroup analyses showed tDCS efficacy with (Hedges' g = 0.86; 95% CI = 0.52-1.20) and without therapy (Hedges' g = 0.70; 95% CI = 0.21-1.19), and in single (Hedges' g = 0.85; 95% CI = 0.39-1.31) and multiple sessions (Hedges' g = 0.78; 95% CI = 0.42-1.14). Limb-specific analysis showed positive effects for lower-limb function (Hedges' g = 0.88; 95% CI = 0.50-1.25). When anodal tDCS was applied to the M1, both lower (Hedges' g = 1.02; 95% CI = 0.70-1.35) and upper (Hedges' g = 0.50; 95% CI = 0.16-0.83) limbs showed improvements.</p><p><strong>Interpretation: </strong>Anodal tDCS, particularly when applied to the M1, may effectively improve motor function in children with CP.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144025658","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}