Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.
To quantify the independent risks of neonatal, postneonatal, 1 to 5 and 6 to 30 year mortality by gestational age and investigate changes in survival…
This cross-sectional study examined parental well-being in caregivers of children with one of three genetic disorders associated with intellectual di…
We aimed to: (1) describe the patterns of sedentary time and daily steps and (2) identify the association of individual and environmental characteris…
This study aimed to validate measures of sedentary time in individuals with Rett syndrome.
Reduced frontal power at 3 months may indicate increased risk for reduced expressive language skills at 12 months.
To investigate survival up to early adulthood for children with intellectual disability and compare their risk of mortality with that of children wit…
This study aimed to determine measurement properties of a modified 2MWT and a modified Rett syndrome-specific FMS-RS in Rett syndrome.
The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the co…
The Kids researchers are investigating the physical and psychological impacts of powered standing wheelchairs for boys suffering from Duchenne