Browsing by Author "Bernier, Francois"

Now showing 1 - 5 of 5
  • Thumbnail Image
    ItemOpen Access
    Advancing Concussion Assessment in Pediatrics (A-CAP): a prospective, concurrent cohort, longitudinal study of mild traumatic brain injury in children: protocol study
    (BMJ, 2017-07-01) Yeates, Keith O.; Beauchamp, Miriam; Craig, William; Doan, Quynh; Zemek, Roger; Bjornson, Bruce H.; Gravel, Jocelyn; Mikrogianakis, Angelo; Goodyear, Bradley; Abdeen, Nishard; Beaulieu, Christian; Dehaes, Mathieu; Deschenes, Sylvain; Harris, Ashley D.; Lebel, Catherine; Lamont, Ryan; Williamson, Tyler; Barlow, Karen M.; Bernier, Francois; Brooks, Brian L.; Emery, Carolyn; Freedman, Stephen B.; Kowalski, Kristina; Mrklas, Kelly; Tomfohr-Madsen, Lianne; Schneider, Kathryn J.
    Introduction Paediatric mild traumatic brain injury (mTBI) is a public health burden. Clinicians urgently need evidence-based guidance to manage mTBI, but gold standards for diagnosing and predicting the outcomes of mTBI are lacking. The objective of the Advancing Concussion Assessment in Pediatrics (A-CAP) study is to assess a broad pool of neurobiological and psychosocial markers to examine associations with postinjury outcomes in a large sample of children with either mTBI or orthopaedic injury (OI), with the goal of improving the diagnosis and prognostication of outcomes of paediatric mTBI. Methods and analysis A-CAP is a prospective, longitudinal cohort study of children aged 8.00-16.99 years with either mTBI or OI, recruited during acute emergency department (ED) visits at five sites from the Pediatric Emergency Research Canada network. Injury information is collected in the ED; follow-up assessments at 10 days and 3 and 6 months postinjury measure a variety of neurobiological and psychosocial markers, covariates/confounders and outcomes. Weekly postconcussive symptom ratings are obtained electronically. Recruitment began in September 2016 and will occur for approximately 24 months. Analyses will test the major hypotheses that neurobiological and psychosocial markers can: (1) differentiate mTBI from OI and (2) predict outcomes of mTBI. Models initially will focus within domains (eg, genes, imaging biomarkers, psychosocial markers), followed by multivariable modelling across domains. The planned sample size (700 mTBI, 300 OI) provides adequate statistical power and allows for internal cross-validation of some analyses. Ethics and dissemination The ethics boards at all participating institutions have approved the study and all participants and their parents will provide informed consent or assent. Dissemination will follow an integrated knowledge translation plan, with study findings presented at scientific conferences and in multiple manuscripts in peer-reviewed journals.
  • Thumbnail Image
    ItemOpen Access
    The Alberta Pregnancy Outcomes and Nutrition (APrON) cohort study: rationale and methods
    (Maternal & Child Nutrition, 2014-01) Kaplan, Bonnie; Giesbrecht, Gerald; Leung, Brenda; Field, Catherine; Dewey, Deborah; Bell, Rhonda; Manca, Donna; O'Beirne, Maeve; Johnston, David; Pop, Victor; Singhal, Nalini; Gagnon, Lisa; Bernier, Francois; Eliasziw, Misha; McCargar, Linda; Kooistra, Libbe; Farmer, Anna; Cantell, Marja; Goonewardene, Laki; Casey, Linda; Letourneau, Nicole; Martin, Jonathan; APrON Study Team
    The Alberta Pregnancy Outcomes and Nutrition (APrON) study is an ongoing prospective cohort study that recruits pregnant women early in pregnancy and, as of 2012, is following up their infants to 3 years of age. It has currently enrolled approximately 5000 Canadians (2000 pregnant women, their offspring and many of their partners).The primary aims of the APrON study were to determine the relationships between maternal nutrient intake and status, before, during and after gestation, and (1) maternal mood; (2) birth and obstetric outcomes; and (3) infant neurodevelopment. We have collected comprehensive maternal nutrition, anthropometric, biological and mental health data at multiple points in the pregnancy and the post-partum period, as well as obstetrical, birth, health and neurodevelopmental outcomes of these pregnancies. The study continues to follow the infants through to 36 months of age.The current report describes the study design and methods, and findings of some pilot work. The APrON study is a significant resource with opportunities for collaboration.
  • Thumbnail Image
    ItemOpen Access
    Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports
    (2011-08-07) Liu, Jing; Bernier, Francois; Lauzon, Julie; Lowry, R. Brian; Chernos, Judy
    Microarray-based comparative genomic hybridization (array CGH) is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances). The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner.
  • Thumbnail Image
    ItemOpen Access
    Discovery and Characterization of Rare Genomic Copy Number Variants in Children with Developmental Coordination Disorder
    (2013-10-02) Mosca, Stephen; Bernier, Francois; Parboosingh, Jillian
    Developmental coordination disorder (DCD) is a common neurodevelopmental disorder characterized by functional motor performance deficits. Recent studies have demonstrated that the genetics of neurodevelopmental disorders can partially be explained by rare copy number variants (CNVs). To assess the role CNVs may play in the genetics of DCD, the genomic landscape of CNVs was explored in 82 children with DCD, compared to 2,988 European controls. We were able to demonstrate that children with DCD had increased rates of rare and large total (p=0.018) and genic (p=0.009) CNVs, which were enriched for deletions spanning brain-expressed (p=0.039) and neurodevelopmental (p=0.043) genes. Variants that overlapped genes that have been previously implicated in other neurodevelopmental disorders were also identified. Furthermore, one case allowed us to refine the motor phenotype seen in patients harboring 22q11.2 distal deletions. Together these results suggest that DCD has a genetic component that shares an underlying etiology with other neurodevelopmental disorders.
  • Thumbnail Image
    ItemOpen Access
    How Do Interactions Between Early Caregiving Environment and Genes Influence Health and Behavior?
    (Biological Research for Nursing, 2014) Letourneau, Nicole; Giesbrecht, Gerald; Bernier, Francois; Joschko, Justin
    To promote optimal health and behavioral outcomes in children, nurses have long supported parents in providing the best possible care and nurturance to their offspring. A growing body of neuroscience research argues convincingly for the combined influences of genes and early caregiving on producing an individual’s unique health and behavioral phenotype. In this article, we systematically review studies that demonstrate the relationship between qualities of early caregiving and genetic propensity to health and behavioral outcomes. From an initial set of 255 articles, 24 articles met our inclusion criteria. The outcomes fall into four distinct groups: hypothalamic-pituitary-adrenal (HPA) response to stress, externalizing behavior, internalizing behavior, and disorganized attachment. In the articles, authors examined genes that code for the 5-hydroxy tryptamine (serotonin) transporter genes linked polymorphic region [5-HTTLPR] serotonin transporter promoter, D4 dopamine receptor, brain-derived neurotrophic factor, and monoamine oxidase A promoter. The reviewed studies suggest that the effect of the early rearing environment on gene expression relates mainly to HPA response to stress, whereas interactions between genes and caregiving mainly relate to behavior and attachment. Findings have implications for nurses focused on advocacy, prevention, and intervention to support the healthy development of children in families faced with adversity.