Developmental Medicine and Child Neurology最新文献

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.

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.

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.