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Selected AbstractsFindings from a multidisciplinary clinical case series of females with Rett syndromeDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2003Hilary Cass BSc FRCPCH Systematic data from a multidisciplinary clinical assessment of a large series of females with Rett syndrome (RS; n=87) is presented. Participants' ages ranged from 2 years 1 month to 44 years 10 months. Areas assessed included oromotor skills, feeding problems, growth, breathing abnormalities, mobility, postural abnormalities and joint deformities, epilepsy, hand use and stereotypies, self-care, and cognitive and communication skills. Many previously reported trends in the presentation of RS over time were confirmed, notably the increasingly poor growth and near pervasiveness of fixed joint deformities and scoliosis in adulthood. In contrast, there was a slight trend towards improved autonomic function in adulthood, whereas feeding difficulties increased into middle childhood and then reached a plateau. Improvements in mobility into adolescence were followed by a decline in those skills in adulthood. Levels of dependency were high, confirming findings from previous studies. Despite the presence of repetitive hand movements, a range of hand-use skills was seen in individuals of all ages. Cognitive and communication skills were limited, but there was little evidence of deterioration of these abilities with age. These findings confirm that RS is not a degenerative condition and indicate that intervention and support to maintain and increase motor skills, daily living skills, and cognitive and communicative functioning are appropriate targets for individuals with RS. [source] Developmental insights into experience-based decision makingJOURNAL OF BEHAVIORAL DECISION MAKING, Issue 1 2010Tim Rakow Abstract In three experiments involving children and adults (N,=,324), option payoffs for sure versus risky choices were either described or experienced via observation of 20 outcomes. Choices revealed a description-experience gap for payoffs with rare events, implying greater impact of small probabilities (,.2) for described than for experienced choices. The size of this effect was independent of participant age. Therefore, the role of cognitive limitations in the description-experience distinction remains unclear, as the age groups would have differed in cognitive capacity. Age-related differences in ,sampling style' in decisions from experience were observed. Pre-choice data acquisition changed markedly with age: From frequent alternation between options towards separate systematic exploration of options with increasing age. A fourth experiment, that manipulated sampling style, failed to demonstrate its link to other age-related features of choice (e.g. risk preferences). Our studies illustrate the value of developmental research for testing theoretical claims and revealing novel phenomena in decision research. Copyright © 2009 John Wiley & Sons, Ltd. [source] Can We Identify Genes For Alcohol Consumption In Samples Ascertained For Heterogeneous Purposes?ALCOHOLISM, Issue 4 2009Narelle K. Hansell Background:, Previous studies have identified evidence of genetic influence on alcohol use in samples selected to be informative for alcoholism research. However, there are a growing number of genome-wide association studies (GWAS) using samples unselected for alcohol consumption (i.e., selected on other traits and forms of psychopathology), which nevertheless assess consumption as a risk factor. Is it reasonable to expect that genes contributing to variation in alcohol consumption can be identified in such samples? Methods:, An exploratory approach was taken to determine whether linkage analyses for heaviness of alcohol consumption, using a sample collected for heterogeneous purposes, could replicate previous findings. Quantity and frequency measures of consumption were collected in telephone interviews from community samples. These measures, and genotyping, were available for 5,441 individuals (5,067 quasi-independent sibling pairs). For 1,533 of these individuals, data were collected on 2 occasions, about 8.2 years apart, providing 2 datasets that maximize data collected at either a younger or an older age. Analyses were conducted to address the question of whether age and heavier levels of alcohol consumption effects outcome. Linkage results were compared in the younger and older full samples, and with samples in which approximately 10, 20, and 40 of drinkers from the lower end of the distribution of alcohol consumption were dropped. Results:, Linkage peaks varied for the age differentiated samples and for percentage of light drinkers retained. Larger peaks (LOD scores >2.0) were typically found in regions previously identified in linkage studies and/or containing proposed candidate genes for alcoholism including AGT, CARTPT, OPRD1, PIK3R1, and PDYN. Conclusions:, The results suggest that GWAS assessing alcohol consumption as a covariate for other conditions will have some success in identifying genes contributing to consumption-related variation. However, sample characteristics, such as participant age, and trait distribution, may have substantial effects on the strength of the genetic signal. These results can inform forthcoming GWAS where the same restrictions apply. [source] Impaired decision making following 49 h of sleep deprivationJOURNAL OF SLEEP RESEARCH, Issue 1 2006WILLIAM D. S. KILLGORE Summary Sleep deprivation reduces regional cerebral metabolism within the prefrontal cortex, the brain region most responsible for higher-order cognitive processes, including judgment and decision making. Accordingly, we hypothesized that two nights of sleep loss would impair decision making quality and lead to increased risk-taking behavior on the Iowa Gambling Task (IGT), which mimics real-world decision making under conditions of uncertainty. Thirty-four healthy participants completed the IGT at rested baseline and again following 49.5 h of sleep deprivation. At baseline, volunteers performed in a manner similar to that seen in most samples of healthy normal individuals, rapidly learning to avoid high-risk decks and selecting more frequently from advantageous low-risk decks as the game progressed. After sleep loss, however, volunteers showed a strikingly different pattern of performance. Relative to rested baseline, sleep-deprived individuals tended to choose more frequently from risky decks as the game progressed, a pattern similar to, though less severe than, previously published reports of patients with lesions to the ventromedial prefrontal cortex. Although risky decision making was not related to participant age when tested at rested baseline, age was negatively correlated with advantageous decision making on the IGT, when tested following sleep deprivation (i.e. older subjects made more risky choices). These findings suggest that cognitive functions known to be mediated by the ventromedial prefrontal cortex, including decision making under conditions of uncertainty, may be particularly vulnerable to sleep loss and that this vulnerability may become more pronounced with increased age. [source] Plasma hemostatic factors and endothelial markers in four racial/ethnic groups: the MESA studyJOURNAL OF THROMBOSIS AND HAEMOSTASIS, Issue 12 2006P. L. LUTSEY Summary.,Background:,Hemostatic factors and endothelial markers may play some role in racial/ethnic differences in cardiovascular disease (CVD) rates. However, little information exists on hemostatic factors and endothelial markers across racial/ethnic groups. Objectives:,To describe, in four American racial/ethnic groups (Caucasian, Black, Hispanic, and Chinese), mean levels of selected hemostatic factors and endothelial markers. Patients and methods:,Multi-ethnic Study of Atherosclerosis baseline data were used (participant age: 45,84 years). Sex-specific analysis of covariance models, and t -tests for pairwise comparisons, were used to compare means of factors and markers. Adjustments were made for demographics and traditional CVD risk factors. Differences were significant at P < 0.05. Results:,Blacks had the highest levels of factor VIII, D-Dimer, plasmin,antiplasmin (PAP), and von Willebrand factor, among the highest levels of fibrinogen and E-selectin (women only), but among the lowest levels of intercellular adhesion molecule 1 (ICAM-1), and, in men, the lowest levels of plasminogen activator inhibitor-1 (PAI-1). Whites and Hispanics tended to have intermediate levels of factors and markers, although they had the highest levels of ICAM-1, and Hispanics had the highest mean levels of fibrinogen and E-selectin (women only). Chinese participants had among the highest levels of PAI-1, but the lowest, or among the lowest, of all other factors and markers. No soluble thrombomodulin differences were observed. Conclusions:,In this large cohort, hemostatic factor and endothelial marker mean levels varied by race/ethnicity, even after adjustment for traditional CVD risk factors. [source] Forced displacement in Yugoslavia: A meta-analysis of psychological consequences and their moderatorsJOURNAL OF TRAUMATIC STRESS, Issue 4 2001Matt Porter Abstract A meta-analysis was conducted to synthesize what is known about differences in mental health between refugees and nonrefugees from the former Yugoslavia. The analysis focused on moderating effects of a variety of enduring, contextual stressors. Results indicated that refugees suffer significantly more mental health impairment than nonrefugees. The psychological consequences offorced displacement were found to vary significantly as a function of chronic stressors (e.g., locus of displacement and type of accommodation in exile) and were also associated with other factors (e.g., degree of war exposure in the nondisplaced groups, participant age, and time of data collection as reflected in year of publication). Implications for the study of refugee mental health are discussed. [source] Neuroprotection trials in Parkinson's disease: Systematic review,,MOVEMENT DISORDERS, Issue 5 2009Robert G. Hart MD Abstract Treatments to slow the progression are a major unmet need in Parkinson's disease. Detailed assessment of randomized trials testing putative neuroprotective drugs was undertaken to inform the design, reporting, and interpretation of future studies. This study is a systematic review of trials testing neuroprotective drugs. Data were extracted independently by two coauthors. Fifteen completed, published trials involving 4,087 participants tested 13 different drugs in 18 double-blind comparisons with placebo. Seven comparisons involving 2,000 subjects assessed MAO-B inhibitors. The primary outcome was change in the Unified Parkinson's Disease Rating Scale score in eight trials and time to need for dopaminergic therapy in seven. Mean participant age was 62 years, 35% were women, the interval from diagnosis to entry averaged 11 months, and the number of participants averaged 272 (largest = 806). Follow-up averaged <16 months in all but two trials. Detailed randomization methods and success of double-blinding were reported in 20% and 13%, respectively. Based on the investigators' conclusions, six trials were interpreted as consistent with a neuroprotective effect, three as negative, and five as either confounded or not meeting criteria for futility. Neuroprotection trials have involved relatively uniform groups of participants early in the clinical disease course, with outcomes weighted heavily toward motor deterioration. Future trials should include participants with wider ranges of disease stages and assess broader neurological outcomes. © 2008 Movement Disorder Society [source] The first year after breast cancer diagnosis: hope and coping strategies as predictors of adjustmentPSYCHO-ONCOLOGY, Issue 2 2002Annette L. Stanton Given the marked individual variability in psychological adjustment in response to breast cancer, it is important to specify factors contributing to adaptive survivorship. This longitudinal study of 70 women with Stage I or II breast cancer tested the ability of situation-specific coping strategies and a more stable attribute, hope, to predict adjustment prospectively from the point shortly following diagnosis through the first year. Consonant with previous studies, coping through active acceptance at diagnosis predicted more positive adjustment across time, and avoidance-oriented coping predicted greater fear of cancer recurrence, over and above participant age and initial status on dependent variables. The hypothesis that coping through turning to religion would be more effective for less hopeful women was supported, and mixed support emerged for the hypothesis that approach-oriented coping strategies would yield greater adaptational benefits for women high in hope. Findings suggest that risk and protective factors for adjustment across the first year of survivorship can be identified even prior to definitive surgery for breast cancer, particularly when both dispositional characteristics such as hope and situation-specific coping strategies are considered. Copyright © 2002 John Wiley & Sons, Ltd. [source] Associates of school absenteeism in adolescents with sickle cell diseasePEDIATRIC BLOOD & CANCER, Issue 1 2009Lisa A. Schwartz PhD Abstract Background Despite high rates of school absenteeism in adolescents with sickle cell disease (SCD), the issue remains understudied. Potential associates of school absenteeism in adolescents with SCD include demographic (age, income), psychosocial (IQ, self-efficacy, competence, internalizing symptoms, negative thinking), and health-related (hemoglobin, health-care utilization, pain, disease knowledge). Procedure Forty participants ages 12,18 completed measures of psychosocial functioning, IQ, and pain. Medical chart reviews identified other health-related variables. A subsample also completed an assessment of goals. Using school records, absenteeism was the percent of school days missed in the previous year. Correlations tested associates of absenteeism and linear regression tested a model of absenteeism. Results Participants missed an average of 12% of the school year and more than 35% missed at least 1 month of school. Health-related and psychosocial variables, but not demographic variables, correlated with absenteeism. Attendance at clinic appointments and parent-reported teen pain frequency were significant associates of absenteeism in the regression model. For those who completed goal assessment, over 40% of goals identified were academically focused. Absenteeism was positively related to current academic goals and health-related hindrance of academic goals, and negatively related to future-oriented academic goals. Conclusions School absenteeism is a significant problem for adolescents with SCD despite the presence of academic goals. Collaboration between schools, parents, patients, and providers to understand and manage the impact of SCD on school attendance is recommended. Pediatr Blood Cancer 2009;52:92,96. © 2008 Wiley-Liss, Inc. [source] Characteristics of participants with self-reported hemochromatosis or iron overload at HEIRS study initial screeningAMERICAN JOURNAL OF HEMATOLOGY, Issue 2 2008James C. Barton There are few descriptions of young adults with self-reported hemochromatosis or iron overload (H/IO). We analyzed initial screening data in 7,343 HEmochromatosis and IRon Overload Screening (HEIRS) Study participants ages 25,29 years, including race/ethnicity and health information; transferrin saturation (TS) and ferritin (SF) measurements; and HFE C282Y and H63D genotypes. We used denaturing high-pressure liquid chromatography and sequencing to detect mutations in HJV, TFR2, HAMP, SLC40A1, and FTL. Fifty-one participants reported previous H/IO; 23 (45%) reported medical conditions associated with H/IO. Prevalences of reports of arthritis, diabetes, liver disease or liver cancer, heart failure, fertility problems or impotence, and blood relatives with H/IO were significantly greater in participants with previous H/IO reports than in those without. Only 7.8% of the 51 participants with previous H/IO reports had elevated TS; 13.7% had elevated SF. Only one participant had C282Y homozygosity. Three participants aged 25,29 years were heterozygous for potentially deleterious mutations in HFE2, TFR2, and HAMP promoter, respectively. Prevalences of self-reported conditions, screening iron phenotypes, and C282Y homozygosity were similar in 1,165 participants aged 30 years or greater who reported previous H/IO. We conclude that persons who report previous H/IO diagnoses in screening programs are unlikely to have H/IO phenotypes or genotypes. Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire. Am. J. Hematol., 2008. © 2007 Wiley-Liss, Inc. [source] Social Presence and Children: Praise, Intrinsic Motivation, and Learning With ComputersJOURNAL OF COMMUNICATION, Issue 1 2004Cheryl Campanella Bracken The computers are social actors (CASA) paradigm asserts that human computer users interact socially with computers, and the paradigm has provided extensive evidence that this is the case for adults. This experiment examined whether or not children have similar reactions to computers by comparing children's predictable responses to praise from a teacher to their responses to praise from a computer. Eight- to 10-year-old participants (N= 42) received either praise or neutral feedback from a computer. Independent variables were the feedback (praise or neutral), and participants' age and gender. Dependent variables measured via a paper-and-pencil questionnaire were learning (recall and recognition memory), perceived ability, and intrinsic motivation. Results provide evidence that children do have social responses to computers and that such social responses can lead to increases in learning (recall and recognition) in young children. [source] |