We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants and 58 of 327 (17.
View Article and Find Full Text PDFBackground: 5q Spinal Muscular Atrophy (SMA) is a prototypical lower motor neuron disorder. However, the characteristic early motor impairment raises the question on the scope of brain involvement with implications for further investigations on the brain as a potential therapeutic target.
Objective: To review changes across the SMA clinical spectrum reported on brain magnetic resonance imaging (MRI).
Aim: To assess the stability of the Gross Motor Functional Classification System (GMFCS) in children with cerebral palsy (CP) from time of preliminary diagnosis (~2 years of age) to time of diagnosis (~5 years of age), and to examine factors associated with reclassification.
Method: We conducted a longitudinal study using a sample from the Canadian CP Registry. Stability was analysed by using the percentage of agreement between timepoints and a weighted prevalence and bias adjusted kappa statistic.
Paediatr Perinat Epidemiol
January 2022
Background: Parental nativity, as well as duration of residence of foreign-born parents in the host country, has been shown to be associated with size at birth. However, most studies have focused on maternal nativity status only and have not accounted for important characteristics of both parents.
Objective: To explore whether maternal and paternal nativity and length of residence (LOR) are independently associated with birthweight for gestational age in a representative sample of infants in Canada.
Unlabelled: Implementation of human immunodeficiency virus rapid and point-of-care tests (RDT/POCT) is understood to be impeded by many different factors that operate at 4 main levels-test devices, patients, providers, and health systems-yet a knowledge gap exists of how they act and interact to impede implementation. To fill this gap, and with a view to improving the quality of implementation, we conducted a systematic review.
Methods: Five databases were searched, 16,672 citations were retrieved, and data were abstracted on 132 studies by 2 reviewers.