Attitudes and preferences towards screening for dementia: a systematic review of the literature

Abstract Background Population screening might provide a mechanism to enable early detection of dementia. Yet the potential benefits, harms or acceptability of such a large-scale intervention are not well understood. This research aims to examine the attitudes and preferences of the general public, health care professionals, people with dementia and their carers towards population screening for dementia. Methods A systematic review of the international literature was undertaken. A search of fifteen bibliographic databases was conducted (up to 12 July 2012; no language restriction) using terms related to dementia, screening, specific screening tools, case finding, and attitudes and preferences; genetic screening and biomarkers were excluded. All study designs were included except opinion-based papers. Included papers were doubly quality assessed and thematically analysed using NVivo. Results 29,910 papers were identified of which 29 met the inclusion criteria. We identified seventeen themes relating to the 3 phases of the screening process (pre-, in- and post-screen) – none emerged as more of a facilitator than a barrier to the acceptance of dementia screening. Seven themes emerged in relation to the patient, carer and general population: existing health state; lifestyle and life view; awareness of dementia; role of clinician; communication; benefit; and role of the family. Ten themes emerged in relation to the clinician and healthcare professional: patient’s existing health and comorbidities; awareness of dementia; confidence; duration of patient contact; suitability of screening tool; cost; disclosure; time; treatment and prognosis; and stigma. Conclusions As for all screening programmes, screening for dementia raises complex issues around preference and choice for clinicians and the public, and it is unclear what specific factors promote or reduce screening acceptance the most. Overall, the level of evidence is low, few large scale studies have been undertaken and none were conducted in representative samples, all affecting the generalizability of identified themes across healthcare contexts. Nevertheless, our findings suggest that population screening for dementia may not be acceptable to either the general public or health care professionals, and highlight where focused efforts are needed to gain insights into dementia specific issues

The Expanding Landscape of Alternative Splicing Variation in Human Populations.

Alternative splicing is a tightly regulated biological process by which the number of gene products for any given gene can be greatly expanded. Genomic variants in splicing regulatory sequences can disrupt splicing and cause disease. Recent developments in sequencing technologies and computational biology have allowed researchers to investigate alternative splicing at an unprecedented scale and resolution. Population-scale transcriptome studies have revealed many naturally occurring genetic variants that modulate alternative splicing and consequently influence phenotypic variability and disease susceptibility in human populations. Innovations in experimental and computational tools such as massively parallel reporter assays and deep learning have enabled the rapid screening of genomic variants for their causal impacts on splicing. In this review, we describe technological advances that have greatly increased the speed and scale at which discoveries are made about the genetic variation of alternative splicing. We summarize major findings from population transcriptomic studies of alternative splicing and discuss the implications of these findings for human genetics and medicine

A new targeted CFTR mutation panel based on next-generation sequencing technology

Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy. The large number of mutations and genetic and phenotypic variability make this search a complex task. Herein, we developed, validated, and tested a laboratory assay for an extended search for mutations in CFTR using a next-generation sequencing based method, with a panel of 188 CFTR mutations customized for the Italian population. Overall, 1426 dried blood spots from neonatal screening, 402 genomic DNA samples from various origins, and 1138 genomic DNA samples from patients with CF were analyzed. The assay showed excellent analytical and diagnostic operative characteristics. We identified and experimentally validated 159 (of 188) CFTR mutations. The assay achieved detection rates of 95.0% and 95.6% in two large-scale case series of CF patients from central and northern Italy, respectively. These detection rates are among the highest reported so far with a genetic test for CF based on a mutation panel. This assay appears to be well suited for diagnostics, neonatal and carrier screening, and assisted reproduction, and it represents a considerable advantage in CF genetic counseling

The Kimberley assessment of depression of older Indigenous Australians: prevalence of depressive disorders, risk factors and validation of the KICA-dep scale

This study aimed to develop a culturally acceptable and valid scale to assess depressive symptoms in older Indigenous Australians, to determine the prevalence of depressive disorders in the older Kimberley community, and to investigate the sociodemographic, lifestyle and clinical factors associated with depression in this population. Methods Cross-sectional survey of adults aged 45 years or over from six remote Indigenous communities in the Kimberley and 30% of those living in Derby, Western Australia. The 11 linguistic and culturally sensitive items of the Kimberley Indigenous Cognitive Assessment of Depression (KICA-dep) scale were derived from the signs and symptoms required to establish the diagnosis of a depressive episode according to the DSM-IV-TR and ICD-10 criteria, and their frequency was rated on a 4-point scale ranging from ‘never’ to ‘all the time’ (range of scores: 0 to 33). The diagnosis of depressive disorder was established after a face-to-face assessment with a consultant psychiatrist. Other measures included sociodemographic and lifestyle factors, and clinical history. Results The study included 250 participants aged 46 to 89 years (mean±SD = 60.9±10.7), of whom 143 (57.2%) were women. The internal reliability of the KICA-dep was 0.88 and the cut-point 7/8 (non-case/case) was associated with 78% sensitivity and 82% specificity for the diagnosis of a depressive disorder. The point-prevalence of a depressive disorder in this population was 7.7%; 4.0% for men and 10.4% for women. Heart problems were associated with increased odds of depression (odds ratio = 3.3, 95% confidence interval = 1.2,8.8). Conclusions The KICA-dep has robust psychometric properties and can be used with confidence as a screening tool for depression among older Indigenous Australians. Depressive disorders are common in this population, possibly because of increased stressors and health morbidities

A method to quantify residents\u27 jargon use during counseling of standardized patients about cancer screening

Background Jargon is a barrier to effective patient-physician communication, especially when health literacy is low or the topic is complicated. Jargon is addressed by medical schools and residency programs, but reducing jargon usage by the many physicians already in practice may require the population-scale methods used in Quality Improvement. Objective To assess the amount of jargon used and explained during discussions about prostate or breast cancer screening. Effective communication is recommended before screening for prostate or breast cancer because of the large number of false-positive results and the possible complications from evaluation or treatment. Participants Primary care internal medicine residents. Measurements Transcripts of 86 conversations between residents and standardized patients were abstracted using an explicit-criteria data dictionary. Time lag from jargon words to explanations was measured using “statements,” each of which contains one subject and one predicate. Results Duplicate abstraction revealed reliability κ = 0.92. The average number of unique jargon words per transcript was 19.6 (SD = 6.1); the total jargon count was 53.6 (SD = 27.2). There was an average of 4.5 jargon-explanations per transcript (SD = 2.3). The ratio of explained to total jargon was 0.15. When jargon was explained, the average time lag from the first usage to the explanation was 8.4 statements (SD = 13.4). Conclusions The large number of jargon words and low number of explanations suggest that many patients may not understand counseling about cancer screening tests. Educational programs and faculty development courses should continue to discourage jargon usage. The methods presented here may be useful for feedback and quality improvement efforts

Hypertension testing and treatment in Uganda and Kenya through the SEARCH study: An implementation fidelity and outcome evaluation.

BackgroundHypertension (HTN) is the single leading risk factor for human mortality worldwide, and more prevalent in sub-Saharan Africa than any other region [1]-although resources for HTN screening, treatment, and control are few. Most regional pilot studies to leverage HIV programs for HTN control have achieved blood pressure control in half of participants or fewer [2,3,4]. But this control gap may be due to inconsistent delivery of services, rather than ineffective underlying interventions.MethodsWe sought to evaluate the consistency of HTN program delivery within the SEARCH study (NCT01864603) among 95,000 adults in 32 rural communities in Uganda and Kenya from 2013-2016. To achieve this objective, we designed and performed a fidelity evaluation of the step-by-step process (cascade) of HTN care within SEARCH, calculating rates of HTN screening, linkage to care, and follow-up care. We evaluated SEARCH's assessment of each participant's HTN status against measured blood pressure and HTN history.FindingsSEARCH completed blood pressure screens on 91% of participants. SEARCH HTN screening was 91% sensitive and over 99% specific for HTN relative to measured blood pressure and patient history. 92% of participants screened HTN+ received clinic appointments, and 42% of persons with HTN linked to subsequent care. At follow-up, 82% of SEARCH clinic participants received blood pressure checks; 75% received medication appropriate for their blood pressure; 66% remained in care; and 46% had normal blood pressure at their most recent visit.ConclusionThe SEARCH study's consistency in delivering screening and treatment services for HTN was generally high, but SEARCH could improve effectiveness in linking patients to care and achieving HTN control. Its model for implementing population-scale HTN testing and care through an existing HIV test-and-treat program-and protocol for evaluating the intervention's stepwise fidelity and care outcomes-may be adapted, strengthened, and scaled up for use across multiple resource-limited settings

Development of a Barriers Scale to Predict Early Treatment Success for Young Children in Poverty with Behavior Problems

Research has demonstrated that participation in parent and child therapy (PCT) programs significantly reduces problematic behaviors while increasing positive behaviors in the child. However, PCT programs report rates of early termination as high as 60% among families in poverty. Research to reduce these early termination rates has historically focused on barriers to treatment including logistical conflicts, socioeconomic status, child age, and symptom severity. Despite attempts to address these variables and reduce early termination rates, progress has been slow in advancing the research in this area. In addition, few measures have been designed to accurately assess how barriers to treatment impact treatment attendance and participation, particularly for families of young children living in poverty. The purpose of this study was to develop and pilot a clinician-report screening tool, the Treatment Barriers Scale (TBS), to assess barriers to treatment participation in primarily low-income, urban minority families receiving home-based therapy for their young child’s challenging behaviors. Data from 330 families consecutively referred to a mental health clinic for behavior problems were analyzed to identify the initial psychometric and predictive properties of this new tool in screening treatment barriers in this population. The resulting 17-item scale consisted of two factors, labeled Treatment Process Barriers and Operational Barriers. Each factor demonstrated acceptable levels of internal consistency (.82 and .80, respectively). Children with more-severe challenging behavior at pretest were more likely to be successful by the third session in treatment. Families with higher TBS scores were more likely to be less successful early in treatment. Limitations of the study and implications for future research and practice were discussed. (PsycINFO Database Record (c) 2016 APA, all rights reserved

Undiagnosed Depression in the Elderly and Healthcare Education

This descriptive study examined undiagnosed depression in the elderly and how it affects the elderly from retaining healthcare education. It is estimated by 2029, 20% of the United States population will be age 65 and older (Colby & Ortman, 2014). Depression in the elderly who have chronic diseases, is estimated to be undiagnosed up to 40% (Chaoyang et al., 2009). A hallmark symptom of depression is the inability to concentrate. It is unknown if undiagnosed depression will affect the older adult from retaining pertinent healthcare education. The 30 point Geriatric Depression Scale (GDS) was administered to a class of elderly individuals, aged 65 years and older. A nutrition class was subsequently taught to the participants. Following the nutrition class, a quiz on the class material was administered to measure retention of the nutritional information. The aim of the study was to determine if higher scores on the GDS, or a positive screening for the risk of depression, would result in lower scores on the nutrition quiz. The scores analyzed as a two tailed Person\u27s correlation, were discovered to be statistically significant at the 0.01 level. The sigma of depression in the setting site contributed to a small sample size. This project has shown the need for increased screening for the risk of depression in the elderly as the elderly cannot retain healthcare education if they are depressed

Pathologic use of video games and gotivation. Can the Gaming Motivation Scale (GAMS) predict depression and trait anxiety?

Videogaming is an increasingly prevalent activity among adolescents worldwide. The present study aimed at adapting the Gaming Motivation Scale (GAMS) to the Italian context, assessing its psychometric properties and verifying its sensitivity to predict depression and anxiety levels. From a sample of 1899 participants, a group of 388 adolescents who participated in the survey was divided into two subgroups of Heavy (HG, N = 188) and Light Gamers (LG, N = 200). A sub-sample of N = 172 adolescents also filled-in CESD and STAI to assess, respectively, depression and trait anxiety. Internal consistency and factorial structure of the Italian version of GAMS (GAMS-it) have been evaluated. Moreover, a latent regression structural equation model by predicting the CES-D and STAI scores with the GAMS-it factors has been carried out. GAMS-it has adequate validity and reliability levels, showing a very similar factorial structure to the original version. Therefore, this scale can be used to evaluate gaming motivation, which is useful for gaming motivation screening. Finally, it has been found that lower gaming motivation can be related to high level of depression and anxiety. The present findings provide a coherent picture, supporting the reliability and validity of the GAMS-it, that appears potentially useful in predicting anxiety and depression levels in a population of adolescent