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.

Differentiating Motor Coordination in Children with Cerebral Palsy and Typically Developing Populations Through Exploratory Factor Analysis of Robotic Assessments.

General motor and executive functions are integral for tasks of daily living and are typically assessed when quantifying impairment of an individual. Robotic tasks offer highly repeatable and objective measures of motor and cognitive function. Additionally, robotic tasks and measures have been used successfully to quantify impairment of children with cerebral palsy (CP).

Risk Factors Associated With Long-term Feeding Problems in Preterm Infants: A Scoping Review.

Background: Infants who are born preterm are at a high risk of encountering feeding problems.

Purpose: The aim of this scoping review is to identify risk factors associated with feeding problems that persist beyond infancy in children (aged 1-6 years) who were born preterm (<37 weeks' gestation).

Methods: To perform this scoping review, the Preferred Reporting Items for Systematic Reviews and Meta-Analyses framework was applied.

Differentiating Motor Coordination and Position Sense in Children with Cerebral Palsy and Typically Developing Populations Through Robotic Assessments.

Motor function and coordination improve as children age. Robotic assessments of motor function and coordination have been shown to be repeatable, objective, and accurate. Additionally, robotic assessments have been used to measure and quantify deficits in motor function and coordination in children with cerebral palsy (CP).

Navigating health care systems for military-connected children with autism spectrum disorder: A qualitative study of military families experiencing mandatory relocation.

Background: Most military families experience mandatory relocation, or posting, several times during the military career. For Canadian military families who must access provincial or territorial health care systems, maintaining reasonable continuity of care is a persistent issue. Such challenges may be amplified when a child in a military family has special needs within the health and educational systems.

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy.

PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants.

Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.

Purpose: The purpose of the current study was to assess the penetrance of NRXN1 deletions.

Methods: We compared the prevalence and genomic extent of NRXN1 deletions identified among 19,263 clinically referred cases to that of 15,264 controls. The burden of additional clinically relevant copy-number variations (CNVs) was used as a proxy to estimate the relative penetrance of NRXN1 deletions.

Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure.

Head circumference is used together with other measures as a proxy for central nervous system damage in the diagnosis of fetal alcohol spectrum disorders, yet the relationship between head circumference and brain volume has not been investigated in this population. The objective of this study is to characterize the relationship between head circumference, brain volume and cognitive performance in a large sample of children with prenatal alcohol exposure (n = 144) and healthy controls (n = 145), aged 5-19 years. All participants underwent magnetic resonance imaging to yield brain volumes and head circumference, normalized to control for age and sex.

Working memory and visuospatial deficits correlate with oculomotor control in children with fetal alcohol spectrum disorder.

Previous studies have demonstrated that children with Fetal Alcohol Spectrum Disorder (FASD) exhibit deficits in measures of eye movement control that probe aspects of visuospatial processing and working memory. The goal of the present study was to examine, in a large cohort of children with FASD, prenatal alcohol exposure (PAE) but not FASD, and typically developing control children, the relationship between performance in eye movement tasks and standardized psychometric tests that assess visuospatial processing and working memory. Participants for this dataset were drawn from a large, multi-site investigation, and included children and adolescents aged 5-17 years diagnosed with an FASD (n=71), those with PAE but no clinical FASD diagnosis (n=20), and typically developing controls (n=111).

Deficits in response inhibition correlate with oculomotor control in children with fetal alcohol spectrum disorder and prenatal alcohol exposure.

Children with fetal alcohol spectrum disorder (FASD) or prenatal alcohol exposure (PAE) frequently exhibit impairment on tasks measuring inhibition. The objective of this study was to determine if a performance-based relationship exists between psychometric tests and eye movement tasks in children with FASD. Participants for this dataset were aged 5-17 years and included those diagnosed with an FASD (n=72), those with PAE but no clinical FASD diagnosis (n=21), and typically developing controls (n=139).

The use of complementary and alternative medicine in children with chronic medical conditions.

Objectives: The objectives of this study were to examine whether progressive medical conditions lead to greater use of complementary and alternative medicine (CAM) as compared with more stable conditions, to see whether disease severity influences CAM use, and to identify the main motivations behind CAM use.

Methods: Subjects were selected from outpatient clinics at Hotel Dieu Hospital. Surveys were conducted by mail and telephone.