Developmental Medicine and Child Neurology最新文献

{"title":"Seizures in childhood cerebral adrenoleukodystrophy.","authors":"Nicole Page, Amanda M Nagy, Florian S Eichler, Margie A Ream","doi":"10.1111/dmcn.16321","DOIUrl":"https://doi.org/10.1111/dmcn.16321","url":null,"abstract":"<p><strong>Aim: </strong>To describe seizure prevalence in childhood cerebral adrenoleukodystrophy (CCALD) and the relationship to disease severity/progression.</p><p><strong>Method: </strong>This was a retrospective observational cross-sectional study of patients with CCALD at two leukodystrophy centers between 2008 and 2024 compared to patients with X-linked adrenoleukodystrophy (X-ALD) without cerebral lesions. Patients with CCALD were under 18 years old, had genetically confirmed X-ALD, and had brain magnetic resonance imaging (MRI) consistent with CCALD. Statistics included: descriptive values (mean, median, range) and clinical variables compared using Wilcoxon rank-sum tests for patient age, MRI score, functional status, electroencephalogram (EEG) findings, and seizure characteristics.</p><p><strong>Results: </strong>Of 86 male children with CCALD, 25 (29%) experienced seizures, of whom 22 (88%) received their X-ALD diagnosis after onset of CCALD symptoms, and 45% (10/22) of these were diagnosed directly because of seizure. Seizure severity correlated with worse functional status and MRI/Loes score; no seizures occurred with Loes score less than 6. All reported seizures were motor. In those with seizures with available EEG (n = 15), diffuse slowing was more common than epileptiform discharges (73.3% vs. 26.7% respectively). Of the 53 patients with X-ALD without cerebral involvement, only 5.7% experienced seizures at any age.</p><p><strong>Interpretation: </strong>Seizures in CCALD are not uncommon, indicating that X-ALD should be considered for male children presenting with first-time seizure. Seizures and seizure severity increase with advancing disease.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804704","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":"Professionals and individuals with lived experience of childhood-onset disabilities: Developing networks to improve care.","authors":"Rainer Blank, Roslyn Boyd, Christian Schaaf, Sebastian Schroeder","doi":"10.1111/dmcn.16294","DOIUrl":"https://doi.org/10.1111/dmcn.16294","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143804701","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 testing in cerebral palsy with clinical and neuroimaging variables.","authors":"Esther M Tantsis, Shekeeb S Mohammad, Simon P Paget, Yisselle I Virella-Perez, Velda X Han, Dianah Hadi, Chaya Goldman, Michelle A Farrar, Michael Fahey, Russell C Dale","doi":"10.1111/dmcn.16323","DOIUrl":"https://doi.org/10.1111/dmcn.16323","url":null,"abstract":"<p><strong>Aim: </strong>To optimize genetic testing in children with cerebral palsy (CP) by using clinical and magnetic resonance imaging (MRI) variables.</p><p><strong>Method: </strong>In this mixed methods study, we surveyed current approaches to genetic testing by Australian clinicians involved in the diagnosis of CP. Using an international expert panel we explored 78 variables, to determine which variables were thought to be supportive of monogenic CP. We tested the 78 variables in a retrospective cohort of 100 children with CP, of whom 21 had a genetic cause of CP.</p><p><strong>Results: </strong>Forty-five clinicians replied to the survey of current practice, 91% agreed that genetic testing has a role in CP, although 47% thought that there was inadequate guidance on which patients to test. The expert panel reached 75% agreement for 30 out of 78 variables for genetic CP, and 14 out of 78 variables against a genetic cause of CP. Retrospective testing in 100 children with CP revealed dysmorphic features (odds ratio [OR] = 7.50; 95% confidence interval [CI] 1.88-29.85) and intellectual disability (OR = 4.86; 95% CI 1.29-18.30) were more common in those with genetic CP, and MRI being compatible with the clinical picture was the feature least common in genetic CP (OR = 0.14; 95% CI 0.05-0.41).</p><p><strong>Interpretation: </strong>Genetic testing has a role in determining CP aetiology; however, there is no consensus on who should be tested. We used mixed methodology and found that dysmorphic features, intellectual disability, and 'MRI not compatible with the clinical picture' are most supportive of a genetic cause of CP.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789303","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 phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy.","authors":"Quanzhen Tan, Miaomiao Cheng, Ying Yang, Ting Wang, Shijia Ouyang, Changhao Liu, Xiaoling Yang, Wenwei Liu, Ye Wu, Yuehua Zhang","doi":"10.1111/dmcn.16320","DOIUrl":"https://doi.org/10.1111/dmcn.16320","url":null,"abstract":"<p><strong>Aim: </strong>To explore the phenotypic spectrum and refine the genotype-phenotype correlation of YWHAG-related epilepsy.</p><p><strong>Method: </strong>This study used a retrospective cohort design to evaluate the clinical data of 15 patients with epilepsy and YWHAG variants in our Chinese cohort (nine males, six females; median age: 6 years 4 months; range: 1 year 6 months-12 years 8 months) and 40 patients with epilepsy with YWHAG variants from published studies (21 males, 19 females; median age: 10 years; range: 3 years-67 years).</p><p><strong>Results: </strong>In our cohort, seven variants were de novo and five were new. Seizure onset for 14 of 15 patients occurred within the first 2 years of life. Nine of 15 patients had a history of febrile seizures. Seizure types included generalized tonic-clonic seizures (GTCS) and myoclonic seizures. Developmental delay was present in 11 of 15 patients. Three patients were diagnosed with febrile seizures plus, one was diagnosed with myoclonic epilepsy in infancy, one had infantile epileptic spasm syndrome, and 10 had developmental and epileptic encephalopathy that could not be further classified into a specific epilepsy syndrome. Seizures were controlled in 7 of 15 patients; most were treated with valproate and levetiracetam. Collectively, in our cohort and from published studies, most variants (38 of 55, 69.1%) were located in the highly conserved triad (HCT) domain of Arg132-Arg57-Tyr133. Mild phenotypes were more frequently observed in patients with variants located outside the HCT domain, with a significant difference of 70.6% versus 27.0% (p < 0.01).</p><p><strong>Interpretation: </strong>Most patients with YWHAG variants were diagnosed during infancy. The most common seizure types were GTCS and myoclonic seizures. The phenotypic spectrum of epilepsy ranged from mild febrile seizures to severe developmental delay and epileptic encephalopathy. Most variants were localized in the HCT domain; variants residing outside the HCT domain were correlated with milder phenotypes.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143789309","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 screening Hand Assessment for Infants: Feasibility, validity, and reliability based on parents' recordings.","authors":"Johanna Kembe, Linda Holmström, Eva Broström, Heléne Sundelin, Ann-Christin Eliasson","doi":"10.1111/dmcn.16318","DOIUrl":"https://doi.org/10.1111/dmcn.16318","url":null,"abstract":"<p><strong>Aim: </strong>To evaluate the concurrent validity and interrater reliability of remote screening Hand Assessment for Infants (s-HAI) in infants aged 3.5 to 12 months at risk of unilateral cerebral palsy (CP), and to assess the feasibility of parents administering and recording the s-HAI play session using a smartphone app.</p><p><strong>Method: </strong>In this observational study, 30 infants (10 females) at risk of unilateral CP were assessed with remote s-HAI, administered by their parents, and compared with the HAI conducted in a clinical setting. The quality of the s-HAI recordings was assessed and parents' experiences were collected using a questionnaire. The Spearman's rank correlation coefficient (r_s) was calculated for the Each Hand Sum score of s-HAI and the corresponding six-item HAI. The interrater reliability of the s-HAI recordings was calculated using the intraclass correlation coefficient_2,1.</p><p><strong>Results: </strong>Parents recorded the s-HAI play session with good quality and found it feasible. A strong correlation of r_s = 0.86 (p < 0.001) was found between the s-HAI and the six-item HAI. Interrater reliability was 0.96 (95% confidence interval [CI] = 0.92-0.99) for the affected hand, 0.95 (95% CI = 0.90-0.98) for the non-affected hand, and moderate to excellent for individual items.</p><p><strong>Interpretation: </strong>The s-HAI measures the same construct as the six-item HAI, demonstrating reliable scoring between raters when administered remotely by parents, making the s-HAI a viable tool for the early identification of infants at risk of unilateral CP.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781727","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 perspectives on family-centered care in pediatric neurology: An explanatory sequential mixed-methods study.","authors":"Ege Sarikaya, Courtney B Cook, Kathryn A Selby, Ye Shen, Alison M Elliott","doi":"10.1111/dmcn.16275","DOIUrl":"https://doi.org/10.1111/dmcn.16275","url":null,"abstract":"<p><strong>Aim: </strong>To explore parents' experiences of family-centered care (FCC) in a pediatric neurology clinic.</p><p><strong>Method: </strong>In this explanatory sequential mixed-methods study, parents of children with neurological conditions completed the Measure of Processes of Care (MPOC-20) and the Pediatric Quality of Life (PedsQL) surveys. Linear regression analysis was used to explore associations between MPOC, PedsQL scores, and demographic variables. Through an interpretive description framework, semi-structured interviews were conducted with a subset of parents to develop a deeper understanding of parental experiences and were analyzed using a phronetic iterative approach.</p><p><strong>Results: </strong>Parents rated the MPOC-20 domains 'respectful and supportive care' the highest and 'providing general information' the lowest (n = 69). Child's age and parents' marital status were predictive of lower 'providing general information' and 'specific information' scores; and child's age, area of residence, and the number of additional services were predictive of lower total, emotional, and social PedsQL scores. A conceptual framework highlighting the parents' role in their child's healthcare experiences was developed on the basis of interview findings.</p><p><strong>Interpretation: </strong>This study demonstrates the need to improve FCC (providing general and specific information about the child's condition) and to encourage partnerships between parents and healthcare providers. Involving genetic counsellors in care teams facilitates information sharing, shared decision-making, communication, and the provision of support resources.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765685","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":"Daily-life executive functions and bimanual performance in children with unilateral cerebral palsy.","authors":"Alexandra Kalkantzi, Lize Kleeren, Dieter Baeyens, Lisa Decraene, Monica Crotti, Katrijn Klingels, Anja Van Campenhout, Geert Verheyden, Els Ortibus, Hilde Feys, Lisa Mailleux","doi":"10.1111/dmcn.16297","DOIUrl":"https://doi.org/10.1111/dmcn.16297","url":null,"abstract":"<p><strong>Aim: </strong>To explore daily-life reported executive functions and their relation with bimanual performance in children with unilateral cerebral palsy (CP).</p><p><strong>Method: </strong>In this cross-sectional study of 46 children with unilateral CP (mean age 11 years 10 months, standard deviation 2 years 10 months), executive functions were evaluated using the Behavior Rating Inventory of Executive Function (BRIEF) and bimanual performance with the Assisting Hand Assessment (AHA) and Children's Hand-use Experience Questionnaire (CHEQ). One-sample z-tests were used to compare participants' executive functions with population norms, while taking autism spectrum disorder (ASD, n = 16) as a comorbidity into account. Moreover, we used regression analysis to estimate the effect of manual ability (Manual Ability Classification System levels: I = 25, II = 15, III = 6) and having a comorbid diagnosis of ASD on executive functions (p < 0.05, R²). Lastly, non-parametric correlations (r_s, p < 0.05) were calculated between the BRIEF, CHEQ, and AHA.</p><p><strong>Results: </strong>In general, executive functions in children with unilateral CP were poorer compared with the normative mean (p ≤ 0.024). However, when excluding participants with ASD, no difference compared with the normative mean was found. A significant effect of manual ability was found for Inhibition (p = 0.042), while ASD effects were found for most of the BRIEF subscales (p ≤ 0.001). Multiple significant correlations were found between the BRIEF and CHEQ (r_s = -0.50 to -0.29), while only the BRIEF subscale Inhibition was significantly correlated with the AHA (r_s = -0.35).</p><p><strong>Interpretation: </strong>A higher number of children with unilateral CP exhibit difficulties in daily-life executive functions, which appear to be mainly co-occurring with ASD. Manual ability was a significant factor of inhibition-related behavioural challenges. Furthermore, there seems to be a relation between impaired executive functions and decreased bimanual performance. The findings emphasize the importance of further research, including performance-based assessments of executive functions in children with unilateral CP.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744341","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":"Neurodevelopmental outcome of perinatal intracranial haemorrhage in patients born at term: A prospective study.","authors":"Stephanie Libzon, Shelly I Shiran, Aviva Fattal-Valevski, Nira Schneebaum-Sender, Jonathan Roth, Shlomi Constantini, Gustavo Malinger, Karina Krajden Haratz, Liat Ben Sira, Moran Hausman-Kedem","doi":"10.1111/dmcn.16310","DOIUrl":"https://doi.org/10.1111/dmcn.16310","url":null,"abstract":"<p><strong>Aim: </strong>To assess the neurological and neurodevelopmental outcome of infants born at term with perinatal intracranial haemorrhage (pICH) and examine the clinical and neuroimaging associations.</p><p><strong>Method: </strong>A prospective, consecutive, single-center observational study of longitudinally followed children with pICH identified in the fetal or neonatal period (≤28 days of life) between January 2014 and November 2022. Neurodevelopmental outcome was rated using the Pediatric Stroke Outcome Measure (PSOM) and the modified Rankin Scale (mRS).</p><p><strong>Results: </strong>Sixty-eight infants were included (67.6% diagnosed postnatally and 32.4% diagnosed antenatally). Intraventricular haemorrhage was the most common bleeding type (n = 43, 63.2%) and was more common in infants diagnosed prenatally (p = 0.004). Twenty-nine (42.6%) infants were diagnosed with cerebral palsy and 19.1% with remote epilepsy. PSOM was performed at a median age of 3 years 8 months (range = 1 year-9 years 5 months). According to the PSOM, outcome was normal in 29 (42.6%) infants. Twelve (17.6%) patients had mild impairment, 11 (16.2%) had moderate impairment, and 16 (23.5%) had severe impairment. There was no difference in neurological outcomes between patients diagnosed antenatally or postnatally. Remote epilepsy (p = 0.002), multi-compartment ICH (p = 0.048), vermian hemorrhage (p = 0.048), posthaemorrhagic ventricular dilatation (p = 0.037), thalamic volume loss (p = 0.037), white matter loss (p = 0.048), Wallerian degeneration (p = 0.026), and abnormal myelination in the posterior limb of the internal capsule (p = 0.005), were associated with less favourable PSOM scores. Anterior horn width correlated with PSOM total scores (r = 0.6).</p><p><strong>Interpretation: </strong>pICH carries a significant risk of long-term adverse neurological outcomes with no difference in neurological outcome between those diagnosed antenatally or postnatally. Epilepsy and neuroradiological markers are associated with unfavourable neurodevelopmental outcomes.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744344","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":"Zebrafish in neurodevelopmental disorders studies: Genetic models and pathological involvement of microglia.","authors":"Fatemeh Hassani Nia, Valerie Wittamer","doi":"10.1111/dmcn.16317","DOIUrl":"https://doi.org/10.1111/dmcn.16317","url":null,"abstract":"<p><p>Neurodevelopmental disorders (NDDs) are a group of brain disorders with a neonatal or early childhood onset and are lifelong. Various factors including genetics, and environmental and immune-related risk factors have been associated with NDDs. Given the complex nature of these disorders, multiple animal models have been used to investigate their aetiology and underlying cellular and molecular mechanisms. Recently, zebrafish have attracted great attention as an emerging model for studying NDDs. In addition to their easy maintenance, short developmental cycle, ex utero embryonic evolution, and optical clarity, zebrafish have successfully recapitulated phenotypes seen in human genetic disorders. This review explores the growing role of zebrafish in NDD research, by summarizing recently developed zebrafish genetic models for autism spectrum disorder, schizophrenia, and cerebral palsy. We then explore the potential of zebrafish as a model for studying NDDs linked to immune system dysfunction.</p>","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143744345","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 contribution of biopsychosocial factors to daily participation: Why do we still relegate psychosocial processes to a secondary role?","authors":"Catherine Haslam","doi":"10.1111/dmcn.16319","DOIUrl":"https://doi.org/10.1111/dmcn.16319","url":null,"abstract":"","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732840","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}