Developmental Medicine and Child Neurology最新文献_第2页

Precision medicine in neuropsychiatric disorders: Still a long way to go.

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-23 DOI: 10.1111/dmcn.16296

Jos M T Draaisma, Renée L Roelofs, Ellen Wingbermühle

引用次数: 0

Linking the Mini-Assisting Hand Assessment and the Assisting Hand Assessment in children with unilateral cerebral palsy.

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-23 DOI: 10.1111/dmcn.16311

Susan Greaves, Marie Holmfur, Rachel Bard-Pondarre, Lena Krumlinde-Sundholm

{"title":"Linking the Mini-Assisting Hand Assessment and the Assisting Hand Assessment in children with unilateral cerebral palsy.","authors":"Susan Greaves, Marie Holmfur, Rachel Bard-Pondarre, Lena Krumlinde-Sundholm","doi":"10.1111/dmcn.16311","DOIUrl":"https://doi.org/10.1111/dmcn.16311","url":null,"abstract":"Aim: To determine the relationship between the Assisting Hand Assessment (AHA), valid for children aged 18 months to 18 years with unilateral cerebral palsy (CP), and the Mini-Assisting Hand Assessment (Mini-AHA), valid for children aged 8 months to 18 months, so results from the two tests can be compared.Method: This psychometric study used AHA data from 157 children and Mini-AHA data from 86 children. In addition, data from children who had undertaken both the AHA and Mini-AHA assessments within a fixed time frame were sought. A Rasch measurement model analysis was conducted using a concurrent test linking technique when both tests have been undertaken by the same (common) persons.Results: Data from 23 children who completed both assessments were added to previous AHA and Mini-AHA data. Using the combined data, the common person test linking Rasch analysis showed the AHA and Mini-AHA test results were not equivalent and a conversion table of Mini-AHA units to AHA units was needed.Interpretation: Information from the conversion table will allow clinicians and researchers to measure changes in use of the affected hand during bimanual performance in children with unilateral CP from 8 months to 18 years.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143694408","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 familial modeling framework for advancing precision medicine for children with neuropsychiatric disorders.

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-22 DOI: 10.1111/dmcn.16278

Jennifer L Bruno, Jacob Joseph Merrin, S M Hadi Hosseini, Tamar Green

{"title":"A familial modeling framework for advancing precision medicine for children with neuropsychiatric disorders.","authors":"Jennifer L Bruno, Jacob Joseph Merrin, S M Hadi Hosseini, Tamar Green","doi":"10.1111/dmcn.16278","DOIUrl":"https://doi.org/10.1111/dmcn.16278","url":null,"abstract":"Aim: To provide individualized estimates of expected child neuropsychiatric and neuroanatomical outcomes by using parent cognitive and behavioral traits in a predictive framework.Method: Predictive modeling was applied to 52 families of children with Noonan syndrome, a neurogenetic syndrome affecting the Ras/mitogen-activated protein kinase (MAPK) pathway.Results: Parent cognition (specifically visuospatial and motor abilities), depression, anxiety, and attention-deficit/hyperactivity disorder symptoms were significantly associated with child outcomes in these domains. Parent cognition was also significantly associated with child neuroanatomical variability. The middle temporal cortex was weighted strongly in the model predicting child neuroanatomy and not identified in previous work, but was correlated with parent cognition, suggesting a larger familial effect in this region.Interpretation: Using parent traits provides a more individualized estimate of expected child cognitive, behavioral, and neuroanatomical outcomes. Understanding how parent traits influence neuroanatomical outcomes helps to further a mechanistic understanding of the impact of Ras/MAPK on neurodevelopmental outcomes. Further refinement of predictive modeling to estimate individualized child outcomes will advance a precision medicine approach to treating Noonan syndrome, other neurogenetic syndromes, and neuropsychiatric disorders more broadly.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677269","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

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adACTH/corticosteroids in children: A scoping review

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-21 DOI: 10.1111/dmcn.16287

{"title":"Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adACTH/corticosteroids in children: A scoping review","authors":"","doi":"10.1111/dmcn.16287","DOIUrl":"10.1111/dmcn.16287","url":null,"abstract":"Infantile epileptic spasms syndrome (IESS) is a rare disorder causing seizures in infancy, known as epileptic spasms. Doctors know of some causes (such as a stroke), but often no clear cause is found, and they do not understand what changes within the body to cause IESS. IESS is also different to other seizure disorders as the main treatments are steroids or adrenocorticotrophin hormone (ACTH). It is not clear how steroids/ACTH work to stop seizures or if they reverse changes that caused IESS.In this review, we summarize studies on IESS in children looking at its causes and how steroids/ACTH work. We found over 120 studies and identified five main ideas: (1) changes to gene function; (2) stress system overactivation; (3) inflammation; (4) altered communication between nerve cells; and (5) cellular energy use. The evidence supporting these ideas was limited in most studies, which made it difficult to make clear conclusions. Researchers think that these ideas overlap and interact with each other, i.e. stress affecting gene function. This also explains the variability within IESS and why treatment responses are different in some children.We suggest future studies compare typically developing children to those who have IESS. This could show differences at the cellular level and in body pathways, revealing how steroids/ACTH might work to change these processes. The long-term goal is ‘precision medicine’, personalizing treatment for each child to improve their well-being.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":"67 5","pages":"e97"},"PeriodicalIF":3.8,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.16287","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671814","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}

引用次数: 0

Community participation, physical activity, and quality of life for children born very preterm. 早产儿的社区参与、体育活动和生活质量。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-20 DOI: 10.1111/dmcn.16295

Kate L Cameron, Rheanna M Mainzer, Joy E Olsen, Ross A Clark, Jeanie L Y Cheong, Tara L FitzGerald, Alicia J Spittle

{"title":"Community participation, physical activity, and quality of life for children born very preterm.","authors":"Kate L Cameron, Rheanna M Mainzer, Joy E Olsen, Ross A Clark, Jeanie L Y Cheong, Tara L FitzGerald, Alicia J Spittle","doi":"10.1111/dmcn.16295","DOIUrl":"https://doi.org/10.1111/dmcn.16295","url":null,"abstract":"Aim: To investigate the effects of community environment on physical activity and quality of life (QoL) and to describe the relationship between community participation with physical activity and QoL, in children born very preterm and at term.Method: Participants in this cross-sectional study were 45 children aged 4 to 5 years old, born before 30 weeks' gestation and 89 term-born children. Measures were community participation (Young Children's Participation and Environment Measure; frequency, involvement, environmental helpfulness, environmental resources), QoL (Pediatric Quality of Life Inventory 4.0; PedsQL), and physical activity (7-day accelerometry). Effects of environmental helpfulness and resources on physical activity and QoL were estimated using g-computation. Relationships between participation frequency and involvement with physical activity and QoL were estimated using linear regression.Results: Environmental helpfulness increased physical activity (average minute increase per percentage point environmental helpfulness score increase; 3, 95% confidence interval [CI] 0.1-7), reduced stationary time (-2, 95% CI -5 to -0.2) and improved QoL (average PedsQL social functioning score increase; 0.7, 95% CI 0.1-1.2). Greater community involvement was associated with better QoL (average PedsQL total score increase per unit involvement score increase; 5.8, 95% CI 0.7-10.9).Interpretation: Improving environmental helpfulness may improve physical activity and QoL for 4- to 5-year-old children. Greater community involvement is associated with better QoL.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671816","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

Eating and drinking abilities and respiratory and oral health in children and young adults with cerebral palsy

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-18 DOI: 10.1111/dmcn.16300

引用次数: 0

The fetal neurologist: Strategies to improve training, practice, and clinical care.

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-18 DOI: 10.1111/dmcn.16301

Tally Lerman-Sagie, Anthony R Hart

{"title":"The fetal neurologist: Strategies to improve training, practice, and clinical care.","authors":"Tally Lerman-Sagie, Anthony R Hart","doi":"10.1111/dmcn.16301","DOIUrl":"https://doi.org/10.1111/dmcn.16301","url":null,"abstract":"Fetal neurology addresses counselling parents on the clinical significance of brain anomalies encountered in their fetus, including disruptive lesions (i.e. stroke, periventricular haemorrhagic infarction, and infection), and genetically based cortical (i.e. hemimegalencephaly, lissencephaly, cobblestone malformation, polymicrogyria, heterotopia) or posterior fossa anomalies (i.e. cerebellar agenesis and hypoplasia, rhombencephalosynapsis, Dandy-Walker syndrome, mega cisterna magna, Blake's pouch cyst). Unlike paediatric neurologists, fetal neurologists cannot examine the infant directly so they diagnose and prognosticate using imaging and other diagnostic studies. The integration of fetal neurologists into fetal multidisciplinary teams is essential for providing expert counselling and cohesive care. This review emphasizes the need for specialized training, multidisciplinary collaboration, and the development of comprehensive service designs to ensure consistent and effective care for families. Additionally, it emphasizes the critical role of fetal neurologists in identifying brain anomalies early and providing thorough counselling to parents, helping them to understand the prognosis, potential interventions, and long-term outcomes for their unborn child.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658773","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

The importance of better natural history studies for Duchenne muscular dystrophy.

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-18 DOI: 10.1111/dmcn.16306

David J Birnkrant

引用次数: 0

The exome is not the end, it is just the beginning: A mother's perspective on discovering a variant of uncertain significance in a normal pregnancy. 外显子组不是终点，只是起点：一位母亲对在正常妊娠中发现意义不明的变异体的看法。

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-14 DOI: 10.1111/dmcn.16304

Shuri Raz

引用次数: 0

Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy.

IF 3.8 2区医学

Developmental Medicine and Child Neurology Pub Date : 2025-03-14 DOI: 10.1111/dmcn.16282

Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean-Yves Hogrel, Giovanni Baranello, Adnan Manzur, Francesco Muntoni

{"title":"Dystrophin isoform deficiency and upper-limb and respiratory function in Duchenne muscular dystrophy.","authors":"Mary Chesshyre, Deborah Ridout, Georgia Stimpson, Valeria Ricotti, Silvana De Lucia, Erik H Niks, Volker Straub, Laurent Servais, Jean-Yves Hogrel, Giovanni Baranello, Adnan Manzur, Francesco Muntoni","doi":"10.1111/dmcn.16282","DOIUrl":"https://doi.org/10.1111/dmcn.16282","url":null,"abstract":"Aim: To investigate the associations between mutations expected to differentially affect Dp140 expression and long-term trajectories of respiratory and upper-limb motor outcomes in Duchenne muscular dystrophy (DMD).Method: In a retrospective analysis of population-based longitudinal data from three real-world and natural history data sources, individuals with DMD aged 5 years to 18 years were subdivided according to the predicted effects of the participants' DMD mutation on dystrophin isoform expression (group 1, Dp427 absent, Dp140/Dp71 present; group 2, Dp427/Dp140 absent, Dp71 present).Results: A total of 459 participants were studied, with upper-limb outcomes assessed in 71 (27 in group 1 and 44 in group 2) and forced vital capacity percentage predicted (%pred) assessed in 434 (224 in group 1 and 210 in group 2). Mean grip strength %pred was on average 7.1 percentage points lower in group 2 than in group 1 (p = 0.03). Mean pinch strength %pred was on average 9.2 percentage points lower in group 2 than in group 1 (p = 0.04). Mean forced vital capacity %pred was on average 4.3 percentage points lower in group 2 than in group 1 (p = 0.01).Interpretation: In individuals with DMD, DMD mutations predicted to affect Dp140 expression were associated with more severe trajectories of respiratory and upper-limb motor outcomes.","PeriodicalId":50587,"journal":{"name":"Developmental Medicine and Child Neurology","volume":" ","pages":""},"PeriodicalIF":3.8,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626735","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