Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

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.

Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review.

Background: 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).

Stability of the Gross Motor Function Classification System over time in children with cerebral palsy.

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.

Differences in birthweight by maternal and paternal nativity status in Canada.

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.

Barriers to Implementation of Rapid and Point-of-Care Tests for Human Immunodeficiency Virus Infection: Findings From a Systematic Review (1996-2014).

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.

Will a quadruple multiplexed point-of-care screening strategy for HIV-related co-infections be feasible and impact detection of new co-infections in at-risk populations? Results from cross-sectional studies.

Objectives: Multiplexed point-of-care (POC) devices can rapidly screen for HIV-related co-infections (eg, hepatitis C (HCV), hepatitis B (HBV), syphilis) in one patient visit, but global evidence for this approach remains limited. This study aimed to evaluate a multiplex POC testing strategy to expedite screening for HIV-related co-infections in at-risk populations.

Methods: A multiplex strategy was developed with two subsequent versions of an investigational device Miriad.

Will an unsupervised self-testing strategy for HIV work in health care workers of South Africa? A cross sectional pilot feasibility study.

Background: In South Africa, stigma, discrimination, social visibility and fear of loss of confidentiality impede health facility-based HIV testing. With 50% of adults having ever tested for HIV in their lifetime, private, alternative testing options are urgently needed. Non-invasive, oral self-tests offer a potential for a confidential, unsupervised HIV self-testing option, but global data are limited.