Developmental Medicine and Child Neurology最新文献

Aim: To compile information about interventions that have been developed to support the empowerment of parent carers of children and young people aged 0 to 19 years with neurodisability (e.g. cerebral palsy, epilepsy, autism) or other long-term health conditions (e.g. asthma, diabetes, cancer).

Method: Seven electronic databases and grey literature were systematically searched for potentially eligible studies and information sources. Identified sources were screened by two independent reviewers. Data were extracted using a custom tool developed by the review team, before being coded and recorded in an interactive online database. Eligibility criteria were inclusive to capture a broad range of interventions designed to address any component of parent carer empowerment.

Results: A total of 212 information sources documenting 145 interventions were included in the review and are presented in the database (https://eppi.ioe.ac.uk/eppi-vis/Review/Index/762). Parent carer-focused interventions have been developed targeting a range of aspects of empowerment; however, there were issues with implementation, sustainability, and scalability.

Interpretation: Many interventions have been designed to improve parent carer empowerment, targeting different aspects of parent carer behaviour. Designing further parent carer-focused interventions may not be an efficient use of limited resources. We recommend that future research should prioritize adaptation, implementation, and robust evaluation of existing interventions, or address other modifiable influences on parent carer empowerment.

Aim: To describe how movement behaviours (sedentary time, light-intensity physical activity, moderate-to-vigorous physical activity [MVPA]) and parent-reported community physical activity participation vary across levels of environmental supportiveness (home, school, community) in children with cerebral palsy (CP).

Method: This was a secondary cross-sectional observational study using pooled data (n = 141) from four studies of children with CP aged 6 to 16 years (mean = 10 years 1 month [SD = 2 years 5 months]; Gross Motor Function Classification System level I = 71, level II = 41, levels III-IV = 29). Children wore hip-mounted triaxial accelerometers; validated machine-learning models classified sedentary time, light physical activity, and MVPA. Parents reported community physical activity participation and environmental supportiveness using the Participation and Environment Measure for Children and Youth. Linear models were adjusted for wear time and study. We estimated marginal mean differences (MMDs) in time spent in movement behaviours between the 25th and 75th centiles of supportiveness scores.

Results: Greater community (MMD = -30.1 minutes, 95% confidence interval [CI] = -53.4 to -8.1), home (-31.4 min, 95% CI = -51.5 to -11.3), and school (MMD = -54.1 min, 95% CI = -76.0 to -32.2) supportiveness were associated with less sedentary time. Higher home supportiveness was associated with more time in light physical activity (MMD = 23.7 minutes, 95% CI = 11.0 to 36.3), whereas school and community supportiveness were not associated with light physical activity. No environmental supportiveness measures were associated with time in MVPA.

Interpretation: Greater environmental supportiveness across all contexts was associated with lower sedentary time, while greater home supportiveness was associated with more time in light physical activity. Other factors may have stronger associations with MVPA time.

This case series provides a detailed description of the coexistence of spinal muscular atrophy (SMA) type 1 and autism spectrum disorder (ASD) in children treated with disease-modifying therapies. Among 13 patients (2-7 years; mean age 4 years [SD 2 years], eight males), five met Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, Text Revision criteria for ASD-a proportion substantially higher than expected and exceeding recent reports in SMA cohorts. These findings indicate that ASD may be underrecognized in this population and that traditional screening tools, such as the autism trait assessment, may fail to detect symptoms because of the severe motor and communicative limitations characteristic of SMA. Although all children demonstrated meaningful motor gains after treatment, those with SMA and ASD showed marked cognitive and adaptive impairments, particularly in communication, socialization, and daily living skills. The dissociation between motor improvement and neurodevelopmental outcomes underscores the need for tailored assessments and continuous behavioral surveillance. This report provides clinically relevant insights and highlights the importance of adapted diagnostic approaches for neurodevelopmental evaluation in SMA.

Aim: To examine the clinical and genetic characteristics of intellectual disability.

Method: We conducted a population-based retrospective analysis on the clinical and genetic data of 959 children with diagnosed intellectual disability during a 5-year period (2017-2021) at Oulu University Hospital, Finland.

Results: Pathogenic or likely pathogenic gene variants were detected in 89 of 194 patients (46%) who underwent exome sequencing. Chromosomal abnormalities, including those with low penetrance, were observed in 106 of 530 patients (20%) who underwent chromosomal microarray testing. Chromosomal abnormalities and causative gene variants were more frequently identified in patients with moderate to profound intellectual disability than in those with mild intellectual disability; however, this difference was not significant in the diagnostic yield analysis. Epilepsy, congenital heart disease, hearing loss, ophthalmological abnormalities, and autism spectrum disorder were more common among patients with moderate to profound intellectual disability, whereas attention-deficit/hyperactivity disorder was associated with mild intellectual disability. Chromosomal abnormalities were associated with congenital heart disease and hearing loss, while pathogenic gene variants were associated with epilepsy and ophthalmological abnormalities.

Interpretation: Somatic comorbidities were more common in moderate to profound intellectual disability, whereas attention-deficit/hyperactivity disorder was more frequent in mild intellectual disability.