Alberta Childrens Hospital Research Institute For Child And Maternal Health

Calgary, Canada

Alberta Childrens Hospital Research Institute For Child And Maternal Health

Calgary, Canada
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Brooks B.L.,Alberta Childrens Hospital | Brooks B.L.,University of Calgary | Brooks B.L.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | Khan S.,McGill University | And 6 more authors.
Journal of Neurotrauma | Year: 2014

The early cognitive effects from a mild traumatic brain injury (mTBI) are poorly understood in youth. The aim of this study was to examine acute neurocognitive functioning in children and adolescents who presented to the emergency department (ED) after an mTBI. Youth 8-17 years of age with an mTBI (n=77; mean age, 13.6 years; 95% confidence interval [CI], 13.0-14.2) and an orthopedic injury control (OIC) group (n=28; mean age, 13.9 years; 95% CI, 13.1-14.7) underwent a very brief computerized neurocognitive assessment (four subtests from CNS Vital Signs) in a pediatric trauma hospital ED. The mTBI and OIC groups were not significantly different on age, gender, handedness, computer familiarity, race, median family income, pain rating scales, or time from injury to assessment. There were no significant differences between the mTBI and OIC groups for accuracy on immediate memory, delayed memory, and measures of attention and executive functioning. However, the mTBI group performed significantly worse than the OIC on nearly all measures of psychomotor speed and reaction time. Further, cognitive functioning appears to worsen as more time passes since the mTBI. Neurocognitive deficits are detectable in youth with an mTBI who present to the ED, despite having a Glasgow Coma Scale score of 15/15 and normal neuroimaging (or their presentation does not warrant neuroimaging). Their profile appears to include preserved accuracy on cognitive measures, but at the expense of slower psychomotor speed and longer reaction time. © Mary Ann Liebert, Inc. 2014.

PubMed | Sutter Memorial Hospital, Alberta Childrens Hospital Research Institute for Child and Maternal Health, Kaiser Permanente, University of Florida and 4 more.
Type: Journal Article | Journal: American journal of medical genetics. Part A | Year: 2016

We report 13 new individuals with duplications in Xp11.22-p11.23. The index family has one male and two female members in three generations with mild-severe intellectual disability (ID), speech delay, dysmorphic features, early puberty, constipation, and/or hand and foot abnormalities. Affected individuals were found to have two small duplications in Xp11.22 at nucleotide position (hg19) 50,112,063-50,456,458bp (distal) and 53,160,114-53,713,154bp (proximal). Collectively, these two regions include 14 RefSeq genes, prompting collection of a larger cohort of patients, in an attempt to delineate critical genes associated with the observed phenotype. In total, we have collected data on nine individuals with duplications overlapping the distal duplication region containing SHROOM4 and DGKK and eight individuals overlapping the proximal region including HUWE1. Duplications of HUWE1 have been previously associated with non-syndromic ID. Our data, with previously published reports, suggest that duplications involving SHROOM4 and DGKK may represent a new syndromic X-linked ID critical region associated with mild to severe ID, speech delay +/- dysarthria, attention deficit disorder, precocious puberty, constipation, and motor delay. We frequently observed foot abnormalities, 5th finger clinodactyly, tapering fingers, constipation, and exercise intolerance in patients with duplications of these two genes. Regarding duplications including the proximal region, our observations agree with previous studies, which have found associations with intellectual disability. In addition, expressive language delay, failure to thrive, motor delay, and 5th finger clinodactyly were also frequently observed in patients with the proximal duplication.

MacMaster F.P.,University of Calgary | MacMaster F.P.,Mathison Center for Mental Health Research and Education | MacMaster F.P.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | MacMaster F.P.,Hotchkiss Brain Institute | And 9 more authors.
Brain Imaging and Behavior | Year: 2014

Structural abnormalities in frontal, limbic and subcortical regions have been noted in adults with both major depressive disorder (MDD) and bipolar disorder (BD). In the current study, we examined regional brain morphology in youth with MDD and BD as compared to controls. Regional brain volumes were measured in 32 MDD subjects (15.7 ± 2.1 years), 14 BD subjects (16.0 ± 2.4 years) and 22 healthy controls (16.0 ± 2.8 years) using magnetic resonance imaging (MRI). Regions of interest included the hippocampus, dorsolateral prefrontal cortex (DLPFC), anterior cingulate cortex (ACC), caudate, putamen and thalamus. Volumetric differences between groups were significant (F26,80 = 1.80, p = 0.02). Post-hoc analyses indicated that individuals with MDD showed reduced left hippocampus volumes (p = 0.048) as well as right ACC white and gray matter volumes (p = 0.003; p = 0.01) compared to controls. BD participants also displayed reduced left hippocampal and right/left putamen volumes compared to controls (p < 0.001; p = 0.015; p = 0.046 respectively). Interestingly, right and left ACC white matter volumes were smaller in MDD than in BD participants (p = 0.019; p = 0.045 respectively). No volumetric group differences were observed for the DLPFC and thalamus. Discriminant analysis was able to correctly classify 81.0 % of subjects as having BD or as MDD based on imaging data. Confirmation and extension of our findings requires larger sample sizes. Our findings provide new evidence of distinct, specific regional brain volumetric differences between MDD and BD that may be used to distinguish the two disorders. © 2013 Springer Science+Business Media New York.

Langevin L.M.,University of Calgary | Langevin L.M.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | Langevin L.M.,Alberta Childrens Hospital | Macmaster F.P.,University of Calgary | And 5 more authors.
Developmental Medicine and Child Neurology | Year: 2015

Aim: Many neurodevelopmental disorders co-occur yet are rarely studied in terms of brain development. Developmental coordination disorder (DCD) and attention-deficit-hyperactivity disorder (ADHD) co-occur at a high frequency and are associated with functional and structural brain alterations. The objective of this study was to examine whether the effects of comorbid motor and attention problems influence cortical thickness in children and whether the pattern of changes for concurrent disorders is distinct from the alterations seen in single disorders. Method: A total of 34 children (19 males, 15 females, mean age 9y 9mo, range 8-17y) who met the criteria for DCD (n=14), ADHD (n=10), or DCD+ADHD (n=10) were recruited into the study. Fourteen participants with typical development (eight males, six females, mean age 11y 9mo, range 8-17y) were also recruited for comparison. Participants underwent neuropsychological assessment and magnetic resonance imaging. Cortical thickness analysis was performed to determine the patterns of cortical thinning in each disorder, which was then compared across groups. Results: Children with comorbid DCD+ADHD demonstrated more widespread decreases in cortical thickness than participants with a diagnosis of DCD or ADHD alone. Cortical thinning was found to be concentrated in the frontal, parietal, and temporal lobes, and was correlated with measures of motor and attentional functioning. Interpretation: The co-occurrence of DCD+ADHD was associated with a distinct global pattern of regional cortical thickness decrease, highlighting the unique neurobiology of comorbid neurodevelopmental disorders. This novel feature of concurrent DCD and ADHD may help inform diagnostic definitions and provide clues to both the shared and the isolated genetic and environmental origins of motor and attention disorders. What this paper adds: We examined children with single and comorbid motor and attention issues for cortical thickness differences. In participants with ADHD alone, thickness reductions were found in the left superior temporal gyrus and parahippocampal gyrus. In participants with DCD alone, cortical thickness reductions were found in the medial orbitofrontal cortex. In comorbid DCD+ADHD, global cortical thinning deficits were found in the frontotemporal, parietal, and occipital regions Concurrent DCD+ADHD correlated with poorer motor and attentional performance. This article is commented on by Brossard-Racine on pages 211-212 of this issue. © 2014 Mac Keith Press.

Raharjo W.H.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | Ghai V.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | Ghai V.,University of Calgary | Dineen A.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | And 4 more authors.
Genetics | Year: 2011

The acquisition and maintenance of shape is critical for the normal function of most cells. Here we investigate the morphology of the pharyngeal glands of Caenorhabditis elegans. These unicellular glands have long cellular processes that extend discrete lengths through the pharyngeal musculature and terminate at ducts connected to the pharyngeal lumen. From a genetic screen we identified several mutants that affect pharyngeal gland morphology. The most severe such mutant is an allele of sma-1, which encodes a b-spectrin required for embryonic elongation, including elongation of the pharynx. In sma-1 mutants, gland projections form normally but become increasingly abnormal over time, acquiring additional branches, outgrowths, and swelling, suggestive of hypertrophy. Rather than acting in pharyngeal glands, sma-1 functions in the surrounding musculature, suggesting that pharyngeal muscles play a critical role in maintenance of gland morphology by restricting their growth, and analysis of other mutants known to affect pharyngeal muscles supports this hypothesis. We suggest that gland morphology is maintained by a balance of forces from the muscles and the glands. © 2011 by the Genetics Society of America.

Emery C.A.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | Emery C.A.,University of Calgary | Roy T.-O.,Laval University | Whittaker J.L.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | And 4 more authors.
British Journal of Sports Medicine | Year: 2015

Youth have very high participation and injury rates in sport. Sport is the leading cause of injury in youth. Sport injury reduces future participation in physical activity which adversely affects future health. Sport injury may lead to overweight/obesity and post-traumatic osteoarthritis. The objective of the systematic review and meta-analysis was to evaluate the efficacy of injury prevention neuromuscular training strategies in youth sport. Three electronic databases were systematically searched up to September 2014. Studies selected met the following criteria: original data; analytic prospective design; investigated a neuromuscular training prevention strategy intervention(s) and included outcomes for injury sustained during sport participation. Two authors assessed the quality of evidence using Downs and Black (DB) criteria. Meta-analyses including randomised controlled trials only (RCTs) to ensure study design homogeneity were completed for lower extremity and knee injury outcomes. Of 2504 potentially relevant studies, 25 were included. Meta-analysis revealed a combined preventative effect of neuromuscular training in reducing the risk of lower extremity injury (incidence rate ratio: IRR=0.64 (95% CI 0.49 to 0.84)). Though not statistically significant, the point estimate suggests a protective effect of such programmes in reducing the risk of knee injury (IRR=0.74 (95% CI 0.51 to 1.07)). There is evidence for the effectiveness of neuromuscular training strategies in the reduction of injury in numerous team sports. Lack of uptake and ongoing maintenance of such programmes is an ongoing concern. A focus on implementation is critical to influence knowledge, behaviour change and sustainability of evidence informed injury prevention practice.

Richmond S.A.,University of Calgary | Kang J.,University of Calgary | Emery C.A.,University of Calgary | Emery C.A.,Alberta Childrens Hospital Research Institute for Child and Maternal Health
Journal of Science and Medicine in Sport | Year: 2013

Objectives: To investigate the relationship between sport injury and body mass index in adolescents (12-19 years). Design: Secondary analysis of data collected in junior and senior high school surveys in Alberta, Canada. Methods: Participants (n= 4339) included students from 59 schools. All sport injury was defined as injury reported in the past one year. Medically treated injury, as any more serious sport related injury reported in the last year that required medical attention. Overweight, obese, and healthy was defined using international cut points, as the exposure. Results: Multivariate logistic regression analysis controlling for clustering by school, and adjusting for potential risk factors was used. There was a 34% increased risk for all sport injury in obese adolescents compared to healthy adolescents [odds ratio (OR) = 1.34 (95% CI: 1.02-1.80)]. There was increased risk for all sport injury and medically treated injury with hours of participation, where the highest group had a 4-fold increase in risk (OR = 4.17, 95%CI: 2.77-6.30 and OR = 3.80, 95%CI: 2.54-5.69, respectively). There was also increased risk for both all sport injury and medically treated injury in Caucasians compared to non-Caucasians [OR = 1.45 (95%CI: 1.15-1.82), OR = 1.94 (95%CI: 1.59-2.37), respectively], as well as for club/team play compared to less elite play [OR = 1.87 (95%CI: 1.43-2.44) and OR = 2.12 (95%CI: 1.57-2.87), respectively]. Conclusions: The risk of sustaining a sport injury in obese adolescents was greater compared to those of healthy weight. There is also a greater risk with increasing hours of play, in Caucasian adolescents, and those that play at a higher sporting level. © 2012 Sports Medicine Australia.

Lazier J.,University of Calgary | Chernos J.,University of Calgary | Lowry R.B.,University of Calgary | Lowry R.B.,Alberta Childrens Hospital Research Institute for Child and Maternal Health
American Journal of Medical Genetics, Part A | Year: 2014

Filippi syndrome is characterized by developmental delay, growth failure, cryptorchidism, bilateral hand and foot syndactyly, and facial dysmorphism. The 2q24q31 contiguous deletion syndrome has similarly been associated with hand and foot anomalies, growth retardation, microcephaly, characteristic facies with a broad prominent nasal root and thin alae nasi, and intellectual disability. We present a patient with this deletion who has a Filippi-like phenotype, which may be the first causative cytogenetic result in this syndrome. This suggests the importance of array comparative genomic hybridization in evaluation of patients with Filippi syndrome, and suggests that the inheritance may not always be autosomal recessive. © 2014 Wiley Periodicals, Inc.

Harabor A.,University of Calgary | Soraisham A.S.,University of Calgary | Soraisham A.S.,Alberta Childrens Hospital Research Institute for Child and Maternal Health
Journal of Ultrasound in Medicine | Year: 2015

Objectives - To describe the impact of targeted neonatal echocardiography on management of neonatal illness in a tertiary perinatal center neonatal intensive care unit (NICU). Methods - We conducted a retrospective analysis of consecutive targeted neonatal echocardiographic studies that were performed over an 18-month period in a regional perinatal center NICU in Canada. All studies were performed with a cardiovascular ultrasound machine and transducer and read on a workstation with storage and analysis software. Reporting was done on a standardized document, and any management change resulting from targeted neonatal echocardiography was documented. Results - A total of 303 consecutive targeted neonatal echocardiographic studies were performed on 129 neonates. The mean gestational age ± SD was 27.8 ± 4.3 weeks (range, 23-41 weeks), and the mean birth weight ± SD was 1196 ± 197 g (range, 490-4500 g). The median number of studies per neonate was 2 (range, 1-8), with most repeated studies for a patent ductus arteriosus (PDA). The most common indication for echocardiography was assessment of a PDA (52.1%), followed by early global hemodynamic assessment of very low birth weight (16.2%) and pulmonary hypertension (12.2%). Of the 303 studies, 126 (41.5%) resulted in management changes. The contribution to management was significantly related to the timing of echocardiography. Around half of the echocardiographic examinations during first the week of life resulted in management changes, compared to 22% of studies after 1 week of age (P = .002). Patent ductus arteriosus management accounted for almost half of the interventions. Conclusions - Targeted neonatal echocardiography is a valuable tool in the NICU and can contribute substantially to hemodynamic management in the first week of life, PDA management in the first 2 weeks of life, and cases of hypotension or shock at any time during the hospital stay. ©2015 by the American Institute of Ultrasound in Medicine.

Kormish J.D.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | Gaudet J.,Alberta Childrens Hospital Research Institute for Child and Maternal Health | McGhee James D. J.D.,Alberta Childrens Hospital Research Institute for Child and Maternal Health
Current Opinion in Genetics and Development | Year: 2010

The C. elegans digestive tract (pharynx, intestine, and rectum) contains only ∼100 cells but develops under the control of the same types of transcription factors (e.g. FoxA and GATA factors) that control digestive tract development in far more complex animals. The GATA-factor dominated core regulatory hierarchy directing development of the homogenous clonal intestine from oocyte to mature organ is now known with some degree of certainty, setting the stage for more biochemical experiments to understand developmental mechanisms. The FoxA-factor dominated development of the pharynx (and rectum) is less well understood but is beginning to reveal how transcription factor combinations produce unique cell types within organs. © 2010 Elsevier Ltd.

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