Developmental Medicine and Child Neurology最新文献_第4页

Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study. trofinetide治疗Rett综合征的实际益处和耐受性：LOTUS研究。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-11 DOI: 10.1111/dmcn.16482

Louise Cosand, Haya Mayman, Jenny Downs, Victor Abler

{"title":"Real-world benefits and tolerability of trofinetide for the treatment of Rett syndrome: The LOTUS study.","authors":"Louise Cosand, Haya Mayman, Jenny Downs, Victor Abler","doi":"10.1111/dmcn.16482","DOIUrl":"https://doi.org/10.1111/dmcn.16482","url":null,"abstract":"Aim: To describe the real-world effects of trofinetide in individuals with Rett syndrome (RTT) using the 18-month follow-up analysis of the LOTUS study.Method: Caregivers of any patients who were prescribed trofinetide under routine clinical care were eligible to participate. Assessments included the Behavioral Improvement Questionnaire (BIQ), the Quality of Life Inventory-Disability (QI-Disability) questionnaire, the Gastrointestinal Health Questionnaire, and safety monitoring. Data are reported to 12 months since the initiation of trofinetide.Results: Overall, 227 caregivers participated in this follow-up. The median trofinetide dose at week 1 was 36.0% of the target dose and increased to over 80% by week 10 onwards; 55.2% of patients took the full trofinetide recommended daily dose. Caregivers (71%-90%) reported behavioral improvements across months 1 to 12 with the BIQ, including non-verbal communication (48%-71%), alertness (44%-70%), and social interaction and connectedness (33%-58%). The median QI-Disability total score change from baseline ranged from 4.7 to 4.6 in months 1 to 12. The incidence of diarrhea varied from weeks 1 to 12 (23%-50%) and months 4 to 12 (26%-38%); most reports of diarrhea were contained inside the patient's diaper. Safety reports were consistent with previous trofinetide clinical trials.Interpretation: Results from the LOTUS study show improvements in the symptoms of RTT, with early insights into managing gastrointestinal symptoms in the context of real-world patient care.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145041789","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

Bridging genomics and digital health for paediatric epilepsy in Africa. 非洲儿童癫痫的基因组学和数字健康的桥梁。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-11 DOI: 10.1111/dmcn.16507

Priscilla Kolibea Mante

引用次数: 0

Sexual rights for adolescents with cerebral palsy and complex communication needs: Towards an intersectional and equitable framework. 患有脑瘫和复杂沟通需要的青少年的性权利：建立一个交叉和公平的框架。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-11 DOI: 10.1111/dmcn.16484

Sandrine Detandt

引用次数: 0

Communication about sexuality for adolescents with cerebral palsy and complex communication needs: A scoping review with framework synthesis. 脑性麻痹青少年与复杂沟通需求的性沟通：框架综合的范围综述。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-10 DOI: 10.1111/dmcn.16479

Megan Walsh, Susan M Sawyer, Joanne M Watson, Amie O'Shea, Georgia Cranko, Chris M Pacheco, Jacinta Pennacchia, Kate L M Anderson

{"title":"Communication about sexuality for adolescents with cerebral palsy and complex communication needs: A scoping review with framework synthesis.","authors":"Megan Walsh, Susan M Sawyer, Joanne M Watson, Amie O'Shea, Georgia Cranko, Chris M Pacheco, Jacinta Pennacchia, Kate L M Anderson","doi":"10.1111/dmcn.16479","DOIUrl":"https://doi.org/10.1111/dmcn.16479","url":null,"abstract":"Aim: To understand communication about sexuality for adolescents with cerebral palsy (CP) and complex communication needs.Method: We systematically searched primary research on adolescents aged 10 to 24 years with CP and/or complex communication needs. We coded the primary evidence against themes derived from a theoretical framework analysis. Consumer research partners were involved throughout.Results: Most of the 16 identified papers described adolescents with CP who could speak. While these adolescents engaged in some discussions with peers about sexuality, they also reported an absence of desired communication with peers and health professionals. The evidence about adolescents with complex communication needs centred on communication with teachers and parents or carers, and on vulnerability to abuse and socially appropriate masturbatory behaviours, rather than positive aspects of sexuality.Interpretation: Given the complexity of their disabilities, adolescents with CP and complex communication needs probably require support to understand and express themselves as sexual and gendered beings. Our findings reveal a sexuality evidence base that fails to address the needs of adolescents with CP during this critical life phase, emphasizing the need for more inclusive, communication-aware sexuality research.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145034666","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

Neurocognitive outcomes following postoperative paediatric cerebellar mutism syndrome: A systematic review. 小儿小脑性缄默症综合征术后的神经认知结果：一项系统综述。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-09 DOI: 10.1111/dmcn.16483

Bethany M Horne, Annisha A Attanayake, Kristian Aquilina, Tara Murphy, Charlotte P Malcolm

{"title":"Neurocognitive outcomes following postoperative paediatric cerebellar mutism syndrome: A systematic review.","authors":"Bethany M Horne, Annisha A Attanayake, Kristian Aquilina, Tara Murphy, Charlotte P Malcolm","doi":"10.1111/dmcn.16483","DOIUrl":"https://doi.org/10.1111/dmcn.16483","url":null,"abstract":"Aim: To systematically review neurocognitive outcomes associated with postoperative paediatric cerebellar mutism syndrome (pCMS), comparing children with and without pCMS after posterior fossa tumour surgery, and in relation to moderating demographic and clinical risk factors.Method: PsycInfo, Medline, and Embase databases were systematically searched up to December 2024. Studies of children aged 2 to 18 years with pCMS who had undergone standardized neurocognitive assessment were included. Quality was appraised using Institute of Health Economics Quality Appraisal Checklist for Case Series and Quality In Prognosis Studies tools. Synthesis without meta-analysis was conducted.Results: Sixteen studies (n = 252 children presenting with pCMS, n = 590 without) met criteria for inclusion. Children who experienced pCMS were found to have pronounced, long-term neurocognitive impairments with severely affected processing speed, psychomotor and executive function, and poorer neurocognitive outcomes generally than children without pCMS. Current literature is limited by small samples, lack of diagnostic clarity or routine prospective screening of pCMS, and limited investigation of factors that may moderate neurocognitive outcomes.Interpretation: Children with pCMS have increased vulnerability to neurocognitive impairments which persist beyond the recovery of initial symptoms in the postoperative phase. Dedicated research is needed to further our understanding of the condition and moderators of neurocognitive outcomes to inform clinical care.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":4.3,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145031121","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

Urgent need for services to support children with and at risk of developmental disabilities in low- and middle-income countries. 迫切需要为低收入和中等收入国家患有发育性残疾和有发育性残疾风险的儿童提供服务。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-09 DOI: 10.1111/dmcn.16503

Nathaniel Scherer, Hannah Kuper

引用次数: 0

DMCN 2025 highlights: Genetics, definitions, and family-centred innovation. DMCN 2025重点：遗传学、定义和以家庭为中心的创新。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-09 DOI: 10.1111/dmcn.16504

Bernard Dan

引用次数: 0

Autopsy and interdisciplinary counselling in fetal neurology. 胎儿神经病学的尸检和跨学科咨询。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-09 DOI: 10.1111/dmcn.16463

Barbara Scelsa

引用次数: 0

Expressive language and social communication abilities in children with spinal muscular atrophy type 1. 1型脊髓性肌萎缩症患儿的表达性语言和社交能力。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-05 DOI: 10.1111/dmcn.16461

Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello

{"title":"Expressive language and social communication abilities in children with spinal muscular atrophy type 1.","authors":"Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello","doi":"10.1111/dmcn.16461","DOIUrl":"https://doi.org/10.1111/dmcn.16461","url":null,"abstract":"Aim: To investigate parent-reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease-modifying therapies.Method: This was a cross-sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (Italy), testing the use of the MacArthur-Bates Communicative Development Inventories (MB-CDIs, 8 months+) to explore vocabulary production, and the Social Communication Questionnaire (SCQ, 4 years+) to investigate social communication.Results: Fifteen participants completed the MB-CDIs (age range 2 years 2 months-6 years 9 months). Thirteen out of the 15 acquired verbal skills, although with scores below normal ranges. Thirty-seven completed the SCQ (age range 4 years 0 months-9 years 0 months). Four out of the 37 scored 11 or more, suggesting the need for further assessment for autism spectrum disorder. Three out of four had completed the MB-CDIs and were among the children able to say the lowest number of words. Other areas of concern included routines/ritualized patterns of behaviour (14 out of 37) and hyperreactivity to sensory input (5 out of 37).Interpretation: Treated children with SMA1 can acquire verbal skills, although this can be delayed. A percentage of them also present with social communication difficulties, especially when expressive language is more severely affected. Further assessments for language and social communication are, therefore, recommended and large prospective studies warranted to better characterize the spectrum of these abilities in treated children with or at risk of SMA1.","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":"145001838","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

Low back pain in adults with cerebral palsy: Toward comprehensive, lifelong, and equitable care. 成人脑瘫患者腰痛：迈向全面、终身和公平的护理。

IF 4.3 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-09-05 DOI: 10.1111/dmcn.16481

Stefano Negrini, Carlotte Kiekens

引用次数: 0