Developmental Medicine and Child Neurology最新文献

{"title":"Variability as a marker of motor imagery in cerebral palsy: Between intention and action","authors":"Deisiane Oliveira Souto","doi":"10.1111/dmcn.70224","DOIUrl":"10.1111/dmcn.70224","url":null,"abstract":"<p>Even in the presence of significant motor limitations, how does physical action continue to be intensely elaborated by the brain? Cerebral palsy (CP) requires motor control to be understood not only as peripheral execution but as an internal construction of action. Between the intention to move and the possible action lies a representational domain in which movement is anticipated, organized, and mentally rehearsed, and it is at this conceptual level that motor imagery becomes central.<span><sup>1</sup></span> Disregarding this dimension implies restricting rehabilitation to the observable body while neglecting neural processes responsible for intention and motor planning. Thus, shifting the focus to motor imagery means investigating not only whether the child moves, but how actions are planned and simulated before execution.</p><p>This perspective poses a methodological challenge: how to empirically operationalize internal motor simulation processes. The Hand Laterality Test is widely used as an indirect measure of motor imagery because it requires mental rotation of one's own limb for spatial judgment. However, results based only on mean reaction time or accuracy have been inconsistent. In this context, the study by Breuer Asher et al.<span><sup>2</sup></span> is particularly relevant for proposing performance variability as a primary indicator of imagery stability. This proposal aligns with contemporary models of motor control and cognition in CP, in which variability is interpreted as a marker of system instability. Accordingly, performance fluctuations should not be regarded as statistical noise but as manifestations of alterations in internal mechanisms of action simulation, supporting the hypothesis of Steenbergen et al.<span><sup>3</sup></span> that imagery and planning deficits are qualitative and compromise representational consistency.</p><p>The study by Breuer Asher et al.<span><sup>2</sup></span> advances the field by showing that motor imagery in children with CP is characterized less by reduced accuracy and more by increased intraindividual variability, particularly in reaction time. By adopting variability as a core variable, the authors provide an integrative explanation for previously discrepant findings, suggesting that the main difficulty lies in performance instability rather than slowness.<span><sup>3, 4</sup></span> This interpretation is consistent with a recent systematic review demonstrating substantial methodological and outcome heterogeneity, indicating that imagery deficits vary according to task demands, clinical subtype, and functional level.<span><sup>5</sup></span> Moreover, the proposed composite score integrating accuracy and variability advances the clinical operationalization of motor imagery by offering a quantitative criterion capable of discriminating children with CP from typically developing peers and monitoring this ability over time.</p><p>Despite these advances, controversies remain regarding the na","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1494-1495"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.70224","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147322560","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":"Clinical and genetic characterization of intellectual disability","authors":"Aarni Venetvaara,&nbsp;Minna Kraatari-Tiri,&nbsp;Jussi-Pekka Tolonen,&nbsp;Marko Merikukka,&nbsp;IDGEN Study Group,&nbsp;Jonna Komulainen-Ebrahim,&nbsp;Jukka Moilanen,&nbsp;Johanna Uusimaa,&nbsp;Outi Kuismin,&nbsp;Elisa Rahikkala","doi":"10.1111/dmcn.70252","DOIUrl":"10.1111/dmcn.70252","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To examine the clinical and genetic characteristics of intellectual disability.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>We conducted a population-based retrospective analysis on the clinical and genetic data of 959 children with diagnosed intellectual disability during a 5-year period (2017–2021) at Oulu University Hospital, Finland.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Pathogenic or likely pathogenic gene variants were detected in 89 of 194 patients (46%) who underwent exome sequencing. Chromosomal abnormalities, including those with low penetrance, were observed in 106 of 530 patients (20%) who underwent chromosomal microarray testing. Chromosomal abnormalities and causative gene variants were more frequently identified in patients with moderate to profound intellectual disability than in those with mild intellectual disability; however, this difference was not significant in the diagnostic yield analysis. Epilepsy, congenital heart disease, hearing loss, ophthalmological abnormalities, and autism spectrum disorder were more common among patients with moderate to profound intellectual disability, whereas attention-deficit/hyperactivity disorder was associated with mild intellectual disability. Chromosomal abnormalities were associated with congenital heart disease and hearing loss, while pathogenic gene variants were associated with epilepsy and ophthalmological abnormalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Somatic comorbidities were more common in moderate to profound intellectual disability, whereas attention-deficit/hyperactivity disorder was more frequent in mild intellectual disability.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1601-1609"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.70252","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147475635","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":"Early predictors of cognitive trajectories from birth to adolescence in children born extremely preterm","authors":"Stephen R. Hooper,&nbsp;Robert M. Joseph,&nbsp;T. Michael O′Shea,&nbsp;Karl C. K. Kuban,&nbsp;Rachana Singh,&nbsp;Jean A. Frazier,&nbsp;Genevieve Taylor,&nbsp;Xianming Tan,&nbsp;Rebecca C. Fry,&nbsp;Hudson P. Santos Jr,&nbsp;the ELGAN Study Investigators","doi":"10.1111/dmcn.70211","DOIUrl":"10.1111/dmcn.70211","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To predict trajectories of cognitive abilities from ages 2 years to 15 years in children born extremely preterm.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>This longitudinal cohort study examined 659 (330 males) children born at 23 weeks to 27 weeks' gestation with cognitive assessments at ages 2 years, 10 years, and 15 years. Early factors analysed included maternal and neonatal characteristics, comorbidities, and neonatal inflammatory proteins.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>For verbal, non-verbal, and combined cognitive abilities, greater social disadvantage at birth, male sex, 23 weeks to 24 weeks gestational age, bronchopulmonary dysplasia (BPD), ultrasound-detected cerebral white matter injury (WMI), and elevated inflammatory proteins in neonatal blood were associated with lower scores over the 15-year time frame for all outcomes. Analyses of joint association between socially disadvantaged groups and WMI suggested that the effect of no social disadvantage was evident only among children without WMI, whereas the effect of WMI was evident irrespective of social disadvantage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>In this cohort of children born extremely preterm, social disadvantage at birth, male sex, BPD, WMI, and neonatal systemic inflammation were associated with slower gains in cognitive scores from age 2 years to 15 years. Early WMI moderated the associations between social disadvantage and cognitive functioning. Efforts to address both neonatal morbidities and social factors could improve cognitive functioning in children born extremely preterm.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1551-1560"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.70211","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147311685","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":"Social advantage is a neuroprotector for cognitive outcome in children born extremely preterm","authors":"Dieter Wolke","doi":"10.1111/dmcn.70218","DOIUrl":"10.1111/dmcn.70218","url":null,"abstract":"&lt;p&gt;Survival rates of children born very preterm and extremely preterm have increased since the late 1980s and active treatment for ever smaller infants (born at 22 weeks or 23 weeks) is on the rise. Children born extremely preterm in any follow-up study are born at a particular time in history (i.e. cohort) and experience the obstetric and neonatal treatments of the time. Has changed treatment and improved survival led to better outcomes in recent decades? A recent meta-analysis that included 61 cohorts of children born very preterm found no indication of even the slightest trend of improvement of cognitive outcome in children assessed at 4 to 7 years of age born between the late 1970s and 2015.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;Thus, the results of the Extremely Low Gestational Age Newborn (ELGAN) study of children born extremely preterm (some 22–24 years ago and followed-up in their cognitive development at 2 years, 10 years, and 15 years of age) are still relevant for current survivors.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; The authors investigated which neonatal factors are related to levels of cognitive functioning and growth of cognitive abilities in children born extremely preterm over time. There were large main effects of white matter injury (WMI) (−1.26 SD) and of social disadvantage. Each one-point increase in the four-points scale in social disadvantage was associated with a –0.30 SD decrease in level and cognitive growth. Thus, the main effect sizes of social disadvantage (comparing lowest to highest) and WMI were similar, as also previously reported in a Canadian cohort.&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;Contrary to the Canadian study, the ELGAN study found additionally to the main effects of WMI and social disadvantage an interaction between the two. Social advantage was less effective in altering cognitive abilities in those with WMI compared to those without WMI. This may suggest that social factors require a plastic brain to be affected by social advantage.&lt;/p&gt;&lt;p&gt;Longitudinal studies of brain development indicate that the lower the gestation, the higher is extranormal development in more regions of the brain. However, brain development after preterm birth is highly heterogeneous in both severity and patterns of deviations.&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; Most importantly, it has been shown that distal social variables such as higher socioeconomic status at birth and proximal social factors such as better parent–infant relationship in early infancy are positively associated with subsequent cortical thickness into adulthood (i.e. affecting neuroplasticity).&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; The lower the gestational age, the relative larger were the effects of high socioeconomic status on cortical thickness development. Thus, looking at brain development such as cortical thickness directly, social factors provide a neuroprotective effect.&lt;/p&gt;&lt;p&gt;The combined evidence points to several implications. First, we now have overwhelming evidence that social factors such as","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1493-1494"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.70218","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147318991","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":"Disability, anti-disability, post-disability: A critical trajectory","authors":"Bernard Dan","doi":"10.1111/dmcn.70428","DOIUrl":"10.1111/dmcn.70428","url":null,"abstract":"&lt;p&gt;The emergence of the disability rights movement in the late 20th century reshaped clinical, social, and ethical understanding of disability. Rejecting the traditional medical model, the social model reframed disability as the product of environmental and attitudinal barriers rather than intrinsic deficit, underpinning major advances in rights, inclusion, and service provision. These developments parallel, in some respects, the critique advanced by the anti-psychiatry movement, which challenged the roles of power, social norms, and institutions in constructing ‘mental illness’. Extending this critique raises an important question: might disability itself function as a socially constructed category that simultaneously enables and constrains those it seeks to support?&lt;/p&gt;&lt;p&gt;Contemporary views emphasize that disability emerges through the interaction of bodily variation with socially defined norms of function, autonomy, and participation.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; This echoes the 1960s work of Szasz and Foucault, who questioned whether psychiatric diagnoses reflect objective pathology or normative judgements embedded within institutional frameworks. In both cases, classification does more than describe reality by defining individuals as ‘patients’ or ‘disabled persons’. Being given a name or label determines expectations, trajectories, and social recognition.&lt;span&gt;&lt;sup&gt;2&lt;/sup&gt;&lt;/span&gt; This performative dimension is particularly relevant in developmental medicine, where diagnostic labels shape identity, expectations, experiences, and access to services.&lt;span&gt;&lt;sup&gt;3&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;From this perspective, all dimensions of the International Classification of Functioning, Disability and Health (ICF) could arguably be seen as socially mediated,&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; including impairment in body function and structure, raising the possibility that the ICF reproduces rather than overcomes the assumptions underlying exclusion. A related tension arises from the institutionalization of disability within legal and administrative systems. Many achievements of disability advocacy, including access to education, healthcare, and social protection, depend upon establishing disability as a recognized category. In practice, this requires assessment, certification, and categorization, processes that reinforce disability as an administrative identity. Individuals must continually demonstrate eligibility within systems that are necessarily reductive. This mirrors concerns in psychiatry that diagnostic categories, while clinically useful, also regulate those individuals they describe.&lt;span&gt;&lt;sup&gt;5&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;Disability studies have rightly promoted collective identity as a basis for solidarity and political advocacy. Yet disability identity is diverse and often mixed. Not everyone adopts disability as a central identity, and for some it sits uneasily alongside other aspects of selfhood. Although politically effective, identity-based approaches risk making di","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1488-1489"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.70428","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148450378","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":"Psychometric properties of the REACh developmental screening tool for preschool children in Sri Lanka.","authors":"Amandhi V Caldera, Ananada Rajitha Wickremasinghe, Nimisha Muttiah, Pavithra K S Godamunne, K Manuja N Perera, Dayananda Tilakarathne, Kalana R R Peiris, Dilini V Vipulaguna, Samanmali P Sumanasena","doi":"10.1111/dmcn.70504","DOIUrl":"https://doi.org/10.1111/dmcn.70504","url":null,"abstract":"<p><strong>Aim: </strong>To design a culturally appropriate and cost-effective developmental screening tool with better psychometric properties to assess preschool children aged 3 to 5 years.</p><p><strong>Method: </strong>A cross-sectional study was conducted using the second iteration of the Ragama Early Assessment of Children (REACh) tool. Item analysis and revisions were confirmed with consensus agreement. It was piloted and later administered by 28 teachers. The accuracy of findings by teachers and the tool's internal consistency were evaluated. Concurrent validity was confirmed with criterion-standard assessments by a developmental paediatrician. Psychometric properties were assessed using the Kuder-Richardson 20 (KR-20) and kappa statistics. Cut-offs for fine motor, gross motor, receptive language, expressive language, social-emotional, and pre-academic were derived using receiver operating characteristic curve analysis.</p><p><strong>Results: </strong>The tool was administered on 597 children. The accuracy of findings by teachers was 100% for all domains. All KR-20 values for 3- to 4-year-olds were greater than 0.7 except for fine motor (0.629). All KR-20 values for 4- to 5-year-olds were greater than 0.7 except fine motor (0.683) and social-emotional (0.694). The sensitivities for all domains were greater than 0.7 except for receptive language and social-emotional in the 3- to 4-year-olds and for expressive language and pre-academic in the 4- to 5-year-olds.</p><p><strong>Interpretation: </strong>Acceptable sensitivity for most items in this iteration of the REACh will enable screening and referral to services. The findings suggest that the REACh can be adapted for use in South Asian settings and is suitable for implementation in other low-resource settings.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149139095","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":"Variability of motor imagery in children with cerebral palsy examined using the Hand Laterality Test","authors":"Inbar Breuer Asher,&nbsp;Dafna Guttman,&nbsp;Pavel Goldstein,&nbsp;Tal Krasovsky","doi":"10.1111/dmcn.70223","DOIUrl":"10.1111/dmcn.70223","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To examine motor imagery performance in children with cerebral palsy (CP) compared to typically developing children and develop a composite motor imagery score to differentiate between the two groups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>In this cross-sectional case–control study, 37 participants (17 with CP, 20 typically developing, aged 10–20 years; 22 females) completed the Hand Laterality Task (HLT), judging hand laterality at several rotation angles. Mixed-effects models were used to compare HLT outcomes (reaction time and accuracy) across groups. A composite score was developed to differentiate children with CP from typically developing children. Model performance was evaluated using internal validation with 100 random 70/30 train–test partitions, with classification metrics (mean area under the curve [AUC], accuracy, sensitivity, specificity, precision, F1 score) averaged across iterations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Children with CP exhibited lower accuracy (<i>p</i> = 0.002) and higher reaction time variability (<i>p</i> &lt; 0.001) than typically developing children, with no significant reaction time differences (<i>p</i> = 0.46). Among multiple models evaluated, the composite score combining accuracy and reaction time variability achieved the best performance compared to models using single parameters. Across 100 random train–test splits, the model demonstrated a mean (SD) of: AUC = 0.89 (0.09), accuracy = 81% (11%), sensitivity = 81% (19%), and specificity = 84% (18%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The composite score differentiated motor imagery performance in children with CP from that of typically developing children. The findings provide initial evidence for reaction time variability as a distinguishing feature, warranting further research to develop targeted rehabilitation strategies. The findings may also promote clinical use of the HLT for motor imagery.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1570-1579"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.70223","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147311968","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":"The cerebral palsy directed acyclic graph: A structural causal model of aetiology","authors":"Shona Goldsmith,&nbsp;Sarah McIntyre,&nbsp;Nadia Badawi,&nbsp;Bernard Dan,&nbsp;Steven Day,&nbsp;Kate Himmelmann,&nbsp;Sandra Julsen Hollung,&nbsp;Bo Jacobsson,&nbsp;Gija Rackauskaite,&nbsp;Robert J. Reynolds","doi":"10.1111/dmcn.70267","DOIUrl":"10.1111/dmcn.70267","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>To describe the development of the initial version of the cerebral palsy (CP) directed acyclic graph (DAG). DAGs are visual representations of causal assumptions and powerful tools for representing and communicating complex causation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>An international working group of clinicians, researchers, and individuals with lived experience developed the CP-DAG, using methods adapted from the US National Aeronautics and Space Administration's risk modelling approach. The team developed a network of nodes and causal links spanning prenatal, perinatal, neonatal, and postneonatal pathways, along with a node dictionary (‘DAGtionary’). Iterative drafts were created with feedback incorporated from presentations at international meetings and workshops.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>As of August 2025, the CP-DAG includes 106 nodes and 378 links, yielding a network density of 6.8%. It spans known and hypothesized causal pathways across biological, clinical, and social domains. The accompanying DAGtionary contains concise definitions and references for each node, totalling 210 citations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>The CP-DAG provides a visual, evidence-linked representation of causal reasoning in CP. It offers a foundation for identifying knowledge gaps, directing future research to under-researched areas, and, eventually, for probabilistic modelling. This initial version is intended as a starting point. We call on the global CP disability community to contribute to its ongoing refinement.</p>\u0000 </section>\u0000 </div>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1593-1600"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.70267","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147647216","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":"Lessons from clinical and genetic characterization of intellectual disability","authors":"Fuki Marie Hisama","doi":"10.1111/dmcn.70250","DOIUrl":"10.1111/dmcn.70250","url":null,"abstract":"&lt;p&gt;Intellectual disability affects 1% to 3% of the global population, occurs more frequently in males than females, and has higher prevalence in low- and middle-income countries than in high-income countries.&lt;span&gt;&lt;sup&gt;1&lt;/sup&gt;&lt;/span&gt; The intellectual disability spectrum varies widely from mild to severe, and may be non-syndromic, or associated with additional neurological features or additional organ system involvement such as congenital anomalies, hearing or visual impairment, or epilepsy. Identifiable causes of intellectual disability may be environmental (infectious, teratogenic, intraventricular hemorrhage associated with preterm birth, etc.) or genetic (chromosomal aneuploidy, copy number variants or structural anomalies, monogenic X-linked, recessive, or de novo autosomal conditions, mitochondrial or imprinted disorders). The genetic diagnostic tools available to clinicians have evolved over the past two decades from fragile X and karyotyping to next-generation sequencing allowing for testing panels of hundreds of genes, up to exome or genome sequencing. Recently, exome or genome sequencing have come into the mainstream as first-line genetic testing for most children with developmental delay/intellectual disability or multiple congenital anomalies.&lt;span&gt;&lt;sup&gt;2, 3&lt;/sup&gt;&lt;/span&gt;&lt;/p&gt;&lt;p&gt;Venetvaara et al.&lt;span&gt;&lt;sup&gt;4&lt;/sup&gt;&lt;/span&gt; report a population-based retrospective study of a cohort of 959 children with intellectual disability seen between 2017 and 2021 at an academic hospital in Finland. Since the genetic testing occurred over a 22-year period, a wide range of standard genetic testing was performed with chromosomal microarray, fragile X, exome sequencing, and karyotype being the most common with an overall diagnostic yield of 437 out of 959 (46%) patients. In this real-world study, the most important insights came from clinical characterization by confirmation through records review of: the diagnosis and severity of intellectual disability, assessment for additional significant clinical features, and assessment for preterm birth and environmental causes of intellectual disability.&lt;/p&gt;&lt;p&gt;The authors' detailed review showed that chromosomal anomalies were enriched in patients with intellectual disability and congenital heart disease, and monogenic variants were more common in patients with intellectual disability and epilepsy or ophthalmological abnormalities. Furthermore, associated conditions resulting in congenital heart disease, visual impairment, hearing impairment, autism spectrum disorder, or epilepsy were more common with more severe intellectual disability. This suggests that patients with moderate or severe intellectual disability may need screening for certain medical conditions at the time of diagnosis, and in some cases, further evaluation for comorbidities during follow-up. Other important lessons from the present study for clinical practice were that 90 out of 959 (9%) patients had non-genetic causes of intellectual disability, ","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1498-1499"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.70250","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147516421","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":"Telehealth implementation in caregiver-mediated interventions for young children: Two examples using a mixed methods approach","authors":"Margaret Langford Holland","doi":"10.1111/dmcn.70419","DOIUrl":"10.1111/dmcn.70419","url":null,"abstract":"<p><b>This commentary is on the original articles by</b> <b>Rawnsley et al. on pages</b> 1610–1620 <b>and Tillis et al. on pages</b> 1621–1629 <b>of this issue.</b></p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"68 11","pages":"1499-1500"},"PeriodicalIF":3.7,"publicationDate":"2026-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148632535","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}