51 research outputs found

    The Influence of Ambient Lighting Levels on Postural Sway in Healthy Children Ages 9 to 11

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    The purpose of this study was to determine whether postural sway in healthy children varied in different levels of ambient lighting. Twelve boys and 26 girls with a mean age of 118 months stood on a force platform under three conditions: eyes closed, eyes opened in regular light (200 lx) and eyes opened in dim light (3 lx). Analysis of variance and pairwise comparisons revealed significantly more postural sway with the eyes closed condition compared to the regular and dim light conditions but no differences between the regular and dim light conditions. While our results on postural sway during the eyes closed condition are consistent with current findings in the pediatric and adult literature, our findings comparing postural sway during regular and dim light conditions differ from those found in older adults. It appears that the visual system of children is efficient in dim light conditions, adding support to the view that quiet standing is more dependent on vision in older adults than in younger individuals

    Lifelong socioeconomic position and physical performance in midlife: results from the British 1946 birth cohort

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    Socioeconomic position (SEP) across life is found to be related to adult physical performance, but the underlying pathways are not well characterized. Using a British birth cohort (N = 2956), the associations of SEP from childhood into midlife with objective physical performance measures in midlife were examined, adjusting for possible confounders or mediators, including indicators of muscle development and central nervous system function. Childhood and adulthood SEP were positively related to standing balance and chair rise performance, but not to grip strength after basic adjustments. When both father’s occupation and mother’s education were included in the same model, having a mother with low education was associated with 0.6 standard deviations (SD) (95% confidence interval (CI: 0.3, 0.8)) poorer standing balance time compared with having a mother with the highest educational level, and having a father in the lowest occupational group was associated with a 0.3 SD (95% CI: 0.1, 0.6) lower chair rise score compared with having a father in the highest occupational group. These associations were maintained, albeit attenuated, after adjustment. In contrast, the associations of own education and adult occupation with physical performance were generally not maintained after adjustment. SEP across life impacts on midlife physical performance, and thereby the ageing process

    Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

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    Background In genome-wide screening studies for de novo mutations underlying autism and intellectual disability, mutations in the ADNP gene are consistently reported among the most frequent. ADNP mutations have been identified in children with autism spectrum disorder comorbid with intellectual disability, distinctive facial features, and deficits in multiple organ systems. However, a comprehensive clinical description of the Helsmoortel-Van der Aa syndrome is lacking. Methods We identified a worldwide cohort of 78 individuals with likely disruptive mutations in ADNP from January 2014 to October 2016 through systematic literature search, by contacting collaborators, and through direct interaction with parents. Clinicians filled in a structured questionnaire on genetic and clinical findings to enable correlations between genotype and phenotype. Clinical photographs and specialist reports were gathered. Parents were interviewed to complement the written questionnaires. Results We report on the detailed clinical characterization of a large cohort of individuals with an ADNP mutation and demonstrate a distinctive combination of clinical features, including mild to severe intellectual disability, autism, severe speech and motor delay, and common facial characteristics. Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and hormonal deficiencies are common comorbidities. Strikingly, individuals with the recurrent p.Tyr719* mutation were more severely affected. Conclusions This overview defines the full clinical spectrum of individuals with ADNP mutations, a specific autism subtype. We show that individuals with mutations in ADNP have many overlapping clinical features that are distinctive from those of other autism and/or intellectual disability syndromes. In addition, our data show preliminary evidence of a correlation between genotype and phenotype.This work was supported by grants from the European Research Area Networks Network of European Funding for Neuroscience Research through the Research Foundation–Flanders and the Chief Scientist Office–Ministry of Health (to RFK, GV, IG). This research was supported, in part, by grants from the Simons Foundation Autism Research Initiative (Grant No. SFARI 303241 to EEE) and National Institutes of Health (Grant No. R01MH101221 to EEE). This work was also supported by the Italian Ministry of Health and ‘5 per mille’ funding (to CR). For many individuals, sequencing was provided by research initiatives like the Care4Rare Research Consortium in Canada or the Deciphering Developmental Disorders (DDD) study in the UK. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (Grant No. HICF-1009–003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (Grant No. WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the Department of Health. The study has UK Research Ethics Committee approval (10/H0305/83, granted by the Cambridge South Research Ethics Committee, and GEN/284/12 granted by the Republic of Ireland Research Ethics Committee). The research team acknowledges the support of the National Institute for Health Research, through the Comprehensive Clinical Research Network

    Objectively measured patterns of sedentary time and physical activity in young adults of the Raine study cohort

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    Background: To provide a detailed description of young adults' sedentary time and physical activity. Methods: 384 young women and 389 young men aged 22.1±0.6 years, all participants in the 22 year old follow-up of the Raine Study pregnancy cohort, wore Actigraph GT3X+ monitors on the hip for 24 h/day over a one-week period for at least one 'valid' day (=10 h of waking wear time). Each minute epoch was classified as sedentary, light, moderate or vigorous intensity using 100 count and Freedson cut-points. Mixed models assessed hourly and daily variation; t-tests assessed gender differences. Results: The average (mean±SD) waking wear time was 15.0±1.6 h/day, of which 61.4±10.1 % was spent sedentary, 34.6±9.1 % in light-, 3.7±5.3 % in moderate- and, 0.3±0.6 % in vigorous-intensity activity. Average time spent in moderate to vigorous activity (MVPA) was 36.2±27.5 min/day. Relative to men, women had higher sedentary time, but also higher vigorous activity time. The 'usual' bout duration of sedentary time was 11.8±4.5 min in women and 11.7±5.2 min in men. By contrast, other activities were accumulated in shorter bout durations. There was large variation by hour of the day and by day of the week in both sedentary time and MVPA. Evenings and Sundays through Wednesdays tended to be particularly sedentary and/or inactive. Conclusion: For these young adults, much of the waking day was spent sedentary and many participants were physically inactive (low levels of MVPA). We provide novel evidence on the time for which activities were performed and on the time periods when young adults were more sedentary and/or less active. With high sedentary time and low MVPA, young adults may be at risk for the life-course sequelae of these behaviours

    Rationale, design and protocol of a longitudinal study assessing the effect of total knee arthroplasty on habitual physical activity and sedentary behavior in adults with osteoarthritis

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    Background: Physical activity levels are decreased and sedentary behaviour levels are increased in patients with knee osteoarthritis (OA). However, previous studies have shown that following total knee arthroplasty (TKA), objectively measured physical activity levels do not change compared to before the surgery. Very few studies have objectively assessed sedentary behaviour following TKA. This study aims to assess patterns of objective habitual physical activity and sedentary behaviour in patients with knee OA and to determine whether these change following TKA. Methods: Patients diagnosed with knee osteoarthritis and scheduled for unilateral primary total knee arthroplasty will be recruited from the Orthopaedic Division at the Charlotte Maxeke Johannesburg Academic Hospital. Eligible participants will have assessments completed one week before the scheduled arthroplasty, six weeks, and six months post-operatively. The primary outcomes are habitual physical activity and sedentary behaviour which will be measured using accelerometry (Actigraph GTX3+ and activPal monitors) at the specific time points. The secondary outcomes will be improvements in osteoarthritis-specific quality of life measures using the following questionnaires: Western Ontario and McMaster Universities Osteoarthritis Index (WOMAC), Knee injury and Osteoarthritis Outcome Score (KOOS), Oxford Knee Score (OKS), Knee Society Clinical Rating System (KSS), UCLA activity index; subjective pain scores, and self reported sleep quality.Discussion: The present study will contribute to the field of musculoskeletal health by providing a rich detailed description of the patterns of accumulation of physical activity and sedentary behaviour in patients with knee OA. These data will contribute to existing knowledge using an objective measurement for the assessment of functional ability after total knee arthroplasty. Although studies have used accelerometry to measure physical activity in knee OA patients, the data provided thus far have not delved into the detailed patterns of how and when physical activity is accumulated before and after TKA. Accurate assessment of physical activity is important for physical activity interventions that target special populations

    A collaborative approach to adopting/adapting guidelines - the Australian 24-hour Movement Guidelines for the early years (birth to 5 years): an integration of physical activity, sedentary behavior, and sleep

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    BACKGROUND: In 2017, the Australian Government funded the update of the National Physical Activity Recommendations for Children 0-5 years, with the intention that they be an integration of movement behaviours across the 24-h period. The benefit for Australia was that it could leverage research in Canada in the development of their 24-h guidelines for the early years. Concurrently, the Grading of Recommendations Assessment, Development and Evaluation (GRADE) working group published a model to produce guidelines based on adoption, adaption and/or de novo development using the GRADE evidence-to-decision framework. Referred to as the GRADE-ADOLOPMENT approach, it allows guideline developers to follow a structured and transparent process in a more efficient manner, potentially avoiding the need to unnecessarily repeat costly tasks such as conducting systematic reviews. The purpose of this paper is to outline the process and outcomes for adapting the Canadian 24-Hour Movement Guidelines for the Early Years to develop the Australian 24-Hour Movement Guidelines for the Early Years guided by the GRADE-ADOLOPMENT framework. METHODS: The development process was guided by the GRADE-ADOLOPMENT approach. A Leadership Group and Consensus Panel were formed and existing credible guidelines identified. The draft Canadian 24-h integrated movement guidelines for the early years best met the criteria established by the Panel. These were evaluated based on the evidence in the GRADE tables, summaries of findings tables and draft recommendations from the Canadian Draft Guidelines. Updates to each of the Canadian systematic reviews were conducted and the Consensus Panel reviewed the evidence for each behaviour separately and made a decision to adopt or adapt the Canadian recommendations for each behaviour or create de novo recommendations. An online survey was then conducted (n = 302) along with five focus groups (n = 30) and five key informant interviews (n = 5) to obtain feedback from stakeholders on the draft guidelines. RESULTS: Based on the evidence from the Canadian systematic reviews and the updated systematic reviews in Australia, the Consensus Panel agreed to adopt the Canadian recommendations and, apart from some minor changes to the wording of good practice statements, keep the wording of the guidelines, preamble and title of the Canadian Guidelines. The Australian Guidelines provide evidence-informed recommendations for a healthy day (24-h), integrating physical activity, sedentary behaviour (including limits to screen time), and sleep for infants (<1 year), toddlers (1-2 years) and preschoolers (3-5 years). CONCLUSIONS: To our knowledge, this is only the second time the GRADE-ADOLOPMENT approach has been used. Following this approach, the judgments of the Australian Consensus Panel did not differ sufficiently to change the directions and strength of the recommendations and as such, the Canadian recommendations were adopted with very minor alterations. This allowed the Guidelines to be developed much faster and at lower cost. As such, we would recommend the GRADE-ADOLOPMENT approach, especially if a credible set of guidelines, with all supporting materials and developed using a transparent process, is available. Other countries may consider using this approach when developing and/or revising national movement guidelines

    Incidence, circumstances, treatment and outcome of high-level cervical spinal fracture without associated spinal cord injury in New South Wales, Australia over a 12 year period

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    Background: No Australian population-based studies have examined temporal trends in the incidence of fracture of the first or second cervical vertebra (C1 or C2 fractures), their aetiology, treatment and outcome for younger (15-64 years) compared to older (65+ years) individuals. The aim of this research is to examine the circumstances, treatment and outcomes including mortality for C1 or C2 fractures without associated spinal cord injury by age group in New South Wales (NSW), Australia. Method: A retrospective review of C1 or C2 vertebra fractures in individuals aged 15 years and over in the NSW Admitted Patient Data Collection from 1 July 1998 to 30 June 2010. Direct age standardised admission rates were calculated by cervical fracture type and by age group. Negative binomial regression was used to examine the statistical significance of changes in trend over time of hospitalised cervical fractures by age group. Results: The annual rate of hospitalised C1 and C2 fractures without associated spinal cord injury for individuals aged 15 years and over in NSW was 2.3 per 100,000 population, with the rate estimated to increase by 5.3% each year. Those aged 85+ years had the highest rates of hospitalisation. For those aged 15-64 years, road trauma was the most common mechanism of injury, while for those aged 65+ years, a fall was the dominant mechanism of injury. The in-hospital mortality for individuals aged 65+ years was 11.8% compared to 0.7% for those aged 15-64 years. Conclusions: This study identified an estimated increasing trend in C1 and C2 fractures over time, particularly for older individuals. While younger individuals are commonly injured in road traffic accidents, older individuals are predominantly injured following a fall. Injury prevention strategies should be targeted to the different age groups and injury mechanisms. Implementation of effective falls prevention strategies is likely to reduce these injuries in older people whilst road and vehicle safety including vehicle rollover protection standards may improve rates in younger people.6 page(s

    The effect of loading and ethnicity on annual changes in cortical bone of the radius and tibia in pre-pubertal children

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    Background: It is unclear what effect habitual physical activity or ethnicity has on annual changes in bone size and strength in pre-pubertal children. Aim: To determine whether the annual relative change in bone size and strength differed between high and low bone loaders and also between black and white pre-pubertal children. Subjects and methods: Peripheral quantitative computed tomography (pQCT) scans of the 65% radius and tibia were completed on 41 black and white children (15 boys, 26 girls) between the ages of 8–11 years, at baseline and 1 year later. Children were categorised into either a high or low bone loading group from a peak bone strain score obtained from a bone-specific physical activity questionnaire. Total area (ToA), cortical area (CoA), cortical density (CoD), strength-strain index (SSI), periosteal circumference (PC), endosteal circumference (EC) and cortical thickness (CT) were assessed. Results: There was no difference in annual relative change in radial or tibia bone size and strength between the low and high bone loaders. Black children had a greater annual relative change in CoD (p = 0.03) and SSI (p = 0.05) compared to the white children. Conclusion: Children who performed high bone loading activities over a 1-year period had similar bone growth to children who did low bone loading activities over the same period. Rapid maturational growth over this period may have resulted in bone adapting to the strains of habitual physical activity placed on it. Black children may have greater tibial bone strength compared to white children due to a greater annual increase in cortical density
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