Developmental Medicine and Child Neurology最新文献_第3页

Modified sports intervention for improving participation goals and activity competence in ambulant children with cerebral palsy: A randomized controlled trial. 改良运动干预改善脑瘫患儿参与目标和活动能力：一项随机对照试验。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-25 DOI: 10.1111/dmcn.16449

引用次数: 0

Constructed growth charts and nutrition for pontocerebellar hypoplasia type 2A. 构建2A型桥小脑发育不全的生长图表和营养。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-25 DOI: 10.1111/dmcn.16445

引用次数: 0

Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder. 儿童的神经学诊断可能满足发育协调障碍的标准。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-25 DOI: 10.1111/dmcn.16413

Martinica Garofalo, Fleur Vansenne, Jessika F van Hoorn, Marina A J Tijssen, Dineke S Verbeek, Deborah A Sival

{"title":"Neurological diagnoses in children potentially fulfilling the criteria for developmental coordination disorder.","authors":"Martinica Garofalo, Fleur Vansenne, Jessika F van Hoorn, Marina A J Tijssen, Dineke S Verbeek, Deborah A Sival","doi":"10.1111/dmcn.16413","DOIUrl":"https://doi.org/10.1111/dmcn.16413","url":null,"abstract":"Aim: To investigate whether initial neurological phenotypical assessment can predict the diagnostic outcome in children potentially fulfilling the criteria for developmental coordination disorder (DCD).Method: In this cohort study, we retrospectively investigated the medical records of 50 children potentially fulfilling the DCD criteria, referred to the Pediatric Neurology Outpatient Clinic of the University Medical Center Groningen, the Netherlands, between 2016 and 2022. On the basis of the reported diagnosis after diagnostic evaluation, the included children were retrospectively assigned either to a DCD or an alternative diagnosis group. We calculated predictive values on the basis of the initially suspected and finally reported diagnosis. We statistically compared clinical and diagnostic parameters (n = 51) between the DCD and alternative diagnosis groups.Results: Sixty-two per cent of patients received a diagnosis of DCD (n = 31 out of 50) and 38% of the patients received an alternative diagnosis (n = 19 out of 50). An underlying genetic aetiology was exposed in 58% of patients with alternative diagnoses (n = 11 out of 19). The positive predictive value for DCD was 52% and for alternative diagnoses 21%. There were no statistically distinguishing parameters between both groups.Interpretation: In children potentially fulfilling the DCD criteria, initial neurological phenotypical assessment is insufficiently predictive of the diagnostic outcome. With the perspective of lacking distinctive features between DCD and alternative diagnoses and the high prevalence of underlying genetic mutations, additional neurogenetic assessment is recommended.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144719021","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}

引用次数: 0

Recognizing the lifelong and neurological nature of cerebral palsy: Notes on the proposed updated description. 认识脑瘫的终身和神经学性质：关于建议更新描述的注释。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-25 DOI: 10.1111/dmcn.16433

Olaf Verschuren, Edward A Hurvitz, Mark D Peterson

引用次数: 0

Synchronous telehealth and face-to-face administration of the Alberta Infant Motor Scale. 艾伯塔省婴儿运动量表的同步远程保健和面对面管理。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-25 DOI: 10.1111/dmcn.16448

引用次数: 0

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. 发病年龄和基因变异预测儿童神经性脑蜡样脂褐变的寿命和病程。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-24 DOI: 10.1111/dmcn.16416

Alessandro Simonati, Francesco Pezzini, Nardo Nardocci, Filippo M Santorelli

{"title":"Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses.","authors":"Alessandro Simonati, Francesco Pezzini, Nardo Nardocci, Filippo M Santorelli","doi":"10.1111/dmcn.16416","DOIUrl":"https://doi.org/10.1111/dmcn.16416","url":null,"abstract":"Aim: To address disease progression in a cohort of patients with childhood-onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia.Method: In this retrospective study, selected clinical features (age at onset, at death, and disease duration) and pathogenicity of individual genotypes were selected and matched from the database of the Italian network of NCLs. A cohort of 152 children with molecularly diagnosed NCL were grouped by age at onset and subdivided according to the associated mutated gene. Clinical features were assessed by descriptive statistics and the significance level by non-parametric tests. The pathogenicity of patients' genotypes in each NCL form was categorized following the guidelines of the American College of Medical Genetics (ACMG) and matched with the phenotypes.Results: The median age at onset was 4 years; the median age at death was 17 years. The earliest disease onset was related to the shortest lifespan (6 years). Earlier onset and short survival were associated with mutated genes encoding for lysosomal enzymes. High percentages of pathogenic variants were identified and associated with 79.3% of genotypes. The evaluated clinical parameters were not necessarily linked to the genotype.Interpretation: The age of onset is a good indicator of the expected lifespan of a child with NCL. The ACMG classes of variant partly foresee the outcome of NCL phenotypes.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144709727","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}

引用次数: 0

Diagnosis and treatment of occipital brain lesions in children. 儿童枕脑病变的诊断与治疗。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-22 DOI: 10.1111/dmcn.16434

Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini

{"title":"Diagnosis and treatment of occipital brain lesions in children.","authors":"Luca Bartolini, Giulia Savoca, Matteo Tassone, Tiziana Metitieri, Renzo Guerrini","doi":"10.1111/dmcn.16434","DOIUrl":"https://doi.org/10.1111/dmcn.16434","url":null,"abstract":"Occipital brain lesions in children represent a significant diagnostic challenge because of the wide spectrum of aetiologies and overlapping clinical features. Early recognition and accurate diagnosis are crucial for effective management and to limit long-term neurological deficits, especially in small children whose symptoms may be subtle. This narrative review evaluates common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic and metabolic, infectious, inflammatory, and neoplastic conditions, examining the wide range of associated clinical presentations. Through a review of the literature and description of real-life observations, we highlight the role of a multidisciplinary diagnostic approach that integrates clinical assessment, neuroimaging, neuropsychology, and targeted testing to determine the underlying aetiology. Early recognition of often subtle visual and cognitive disturbances, coupled with targeted work-up, appropriate referral to subspecialty evaluations, and rapid institution of treatment strategies, can improve the long-term outcome considerably.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692304","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}

引用次数: 0

Gaze responses in children with cerebral palsy, cerebral visual impairment, and severe intellectual and developmental disabilities. 脑瘫、脑视力障碍和严重智力和发育障碍儿童的凝视反应

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-20 DOI: 10.1111/dmcn.16426

Naomi Ferziger, Ruth Feldman, Ari Zivotofsky

{"title":"Gaze responses in children with cerebral palsy, cerebral visual impairment, and severe intellectual and developmental disabilities.","authors":"Naomi Ferziger, Ruth Feldman, Ari Zivotofsky","doi":"10.1111/dmcn.16426","DOIUrl":"https://doi.org/10.1111/dmcn.16426","url":null,"abstract":"Aim: To identify gaze responses of children with cerebral palsy (CP), cerebral visual impairment (CVI), and severe intellectual and developmental disabilities (IDD) to unimodal and bimodal sensory stimuli.Method: Forty children (27 female; mean age 8 years 3 months [range: 3-21 years] with two participants [ages 20 years and 21 years] representing outliers; Gross Motor Function Classification System [GMFCS] level V, Manual Ability Classification System level V, Communication Function Classification System level V) with spastic and dyskinetic CP and severe IDD (20 CVI, 20 no visual impairment) participated in an experimental-observational study. Unimodal (light, auditory, tactile) and bimodal (visual-auditory, visual-tactile) stimuli were presented in a darkened room. Standardized and validated microanalysis of video recordings assessed gaze frequency, duration, and latency.Results: Compared to children with no visual impairment, children with CVI had significantly longer gaze latency to static visual and visual-tactile stimuli (p <0.05) and shorter overall gaze duration (p = 0.005). The CVI group showed sensory enhancement, responding more frequently to bimodal stimuli than unimodal non-visual stimuli (p = 0.014) and with significantly longer gaze duration to bimodal visual-auditory stimuli than unimodal auditory stimuli (p = 0.005).Interpretation: This study provides evidence that bimodal sensory stimulation can enhance visual engagement in children with CP, CVI, and severe IDD. Gaze frequency, duration, and latency are important considerations for interventions and adapting sensory environments.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144676390","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}

引用次数: 0

A proposed new description of cerebral palsy: A welcome evolution requiring operational clarity. 提议的对脑瘫的新描述：一种需要操作清晰度的受欢迎的进化。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-19 DOI: 10.1111/dmcn.16432

Daniel E Lumsden, Ram Kumar

引用次数: 0

The proposed updated description of cerebral palsy: Through the lens of lived experience. 建议更新脑瘫的描述：通过生活经验的镜头。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-07-17 DOI: 10.1111/dmcn.16418

Georgina Henry, Natasha Garrity, Leanne Diviney

引用次数: 0