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CoSAGE Community Advisory and Ethics Committee; Age-related hearing impairment yields many negative outcomes, including alterations in mental health, functional impairments, and decreased social engagement. The purpose of the current study was to examine perceived hearing impairment and its relationship with person-centered outcomes among adults in a rural community setting. A cross-sectional, descriptive correlational design was used. Survey packets of validated instruments were distributed following all weekend services at a rural community church; 72 completed surveys were returned (26% response rate). Descriptive and inferential statistics, including Spearman's rank correlations (r s ), were used to address the study aims. Mean age of participants was 54 years ( SD = 17 years), 58% were female, and 97% attended church regularly. Thirty-one percent of respondents reported moderate to severe hearing impairment. Perceived hearing impairment was associated with more depressive symptoms (r s = 0.24, p = 0.052), poorer attentional function (rs = −0.29, p = 0.016), and decreased quality of life in the mental health domain (r s = −0.21, p = 0.081). Findings expand evidence supporting the relationship between hearing and person-centered outcomes, including a functional measure of cognition. These results serve as a foundation for the design of a community-driven, church-based hearing health intervention. [ Research in Gerontological Nursing, 16 (1), 21–32.]

Evidence-based practice (EBP) and innovation are critical to quality and improved outcomes in the acute care setting and are often driven by bedside caregiver and clinical nurse specialist collaboration. Several EBP models and frameworks exist to guide these efforts. Although existing models do not preclude external evidence and community-based stakeholders, they largely do not explicitly connect the hospital-based effort to the community either. In our experience in facilitating EBP projects within an acute care hospital in the upper Midwest, we observed multiple situations in which nurse-led EBP projects intersected with the surrounding community in multiple phases of the project. The purpose of this article is to demonstrate an explicit connection between hospital-placed EBP processes and community/population health. To illustrate this assertion, 3 exemplars of nurse-driven, hospital-placed innovation are presented. Implications for practice and research are discussed.

The purpose of this study was to examine genetic variability and knee pain in persons with osteoarthritis (OA). Seventy-five participants with medial compartment knee OA were recruited from a large Midwestern tertiary care center. Participants exhibited a mean age of 56.3 years; females comprised 61% of the sample. Measures of pain included subjective pain intensity at rest and with movement, cutaneous mechanical sensation and pain testing, heat pain threshold, and pressure pain threshold. Seventy-four participants were genotyped for 25 genetic variants across 15 candidate genes for central or peripheral pain pathways. Analysis suggests a role for four genes ( EDNRA , COMT , BDRKB1 , and IL1B ) in several components of pain in persons with knee OA. The results from this study will help guide the development and evaluation of tailored strategies to decrease pain, improve function, and prevent the development of new chronic pain syndromes in older adults experiencing OA. [ Research in Gerontological Nursing, 13 (4), 191–202.]

Physiochemical differences between mitochondrial DNA (mtDNA) haplogroups that favor oxidative phosphorylation efficiency during periods of caloric limitation can lead to lifespan lengthening when food calories are less abundant. For example, prior work demonstrated that older female haplogroup H carriers had modestly lengthened lifespans beyond 60 years during the Great Depression, a time of caloric limitation in North America. The objective of the current study is to replicate the prior findings in an independent cohort that includes both sexes and younger ages. By determining and cross-referencing the mtDNA genotypes of a culturally homogeneous population isolate to the lifespans of their ancestors, we found that between 1930 and 1939, haplogroup H compared to haplogroup U carriers had a modestly lengthened lifespan (3 years) past 60 years (hazard ratio 2.35; CI95 1.41–3.90; p-value: 0.0029). The lifespan-lengthening association was apparent in both sexes but only after the age of 60. Our results provide further support for the role of mitochondrial genetics in lengthening human lifespan.

Objective: We examined genomic variation potentially associated with the cortisol stress response in children having a painful medical procedure. Design: Children 4–10 years old having a peripheral intravenous line inserted provided saliva samples for evaluation of the cortisol response as a biological measure of distress: two on the day of the procedure and two at home on a nonstressful day for comparison values. Children and biological parents also provided samples for genotyping of variants with known or suspected association with the cortisol stress response. Analysis included child-only association and family-based transmission disequilibrium tests (TDTs). Results: Genotype and phenotype data on the cortisol stress response were available from 326 children for child-only association analyses and 376 complete family trios for TDTs. Children were 50% female, an average of 7.5 years old, and mostly (83%) White/non-Hispanic. We identified four single-nucleotide polymorphisms (SNPs) potentially associated with the cortisol stress response: rs1176744 ( HTR3B), rs10062367 ( CRHBP), rs634479 ( OPRM1), and rs8030107 ( NTRK3). Family-based analysis identified a two-SNP haplotype in HTR1B suggestive for association with the cortisol response (rs6296, rs11568817). Allelic TDTs identified rs7897947 ( NFKB2) as potentially related to cortisol response. Conclusions: Findings provide preliminary evidence for genes potentially important in cortisol response to an acute stressor in children in the serotonin, dopamine, and brain-derived neurotrophic factor pathways, the hypothalamic–pituitary–adrenal axis, and the inflammatory response. Combined with analyses of related phenotypes and clinical data, these results could help identify patients at increased risk of adverse responses to painful medical procedures who might benefit from tailored interventions.

Objective: This study used a candidate gene approach to examine genomic variation associated with pain, anxiety, and distress in children undergoing a medical procedure. Study Design: Children aged 4–10 years having an IV catheter insertion were recruited from three Midwestern children’s hospitals. Self-report measures of pain, anxiety, and distress were obtained as well as an observed measure of distress. Samples were collected from children and biological parents for analysis of genomic variation. Genotyped variants had known or suspected association with phenotypes of interest. Analyses included child-only association and family-based transmission disequilibrium tests. Results: Genotype and phenotype data were available from 828 children and 376 family trios. Children were 50% male, had a mean age of 7.2 years, and were 84% White/non-Hispanic. In family-based analysis, one single-nucleotide polymorphism (SNP; rs1143629, interleukin ( IL1B) 1β) was associated with observed child distress at Bonferroni-corrected levels of significance ( p = .00013), while two approached significance for association with high state anxiety (rs6330 Nerve Growth Factor, Beta Subunit, [ NGFB]) and high trait anxiety (rs6265 brain-derived neurotrophic factor [ BDNF]). In the child-only analysis, multiple SNPs showed nominal evidence of relationships with phenotypes of interest. rs6265 BDNF and rs2941026 cholecystokinin B receptor had possible relationships with trait anxiety in child-only and family-based analyses. Conclusions: Exploring genomic variation furthers our understanding of pain, anxiety, and distress and facilitates genomic screening to identify children at high risk of procedural pain, anxiety, and distress. Combined with clinical observations and knowledge, such explorations could help guide tailoring of interventions to limit procedure-related distress and identify genes and pathways of interest for future genotype–phenotype studies.

BACKGROUND This study examined the extent to which genetic variability modifies Transcutaneous Electrical Nerve Stimulation (TENS) effectiveness in osteoarthritic knee pain. METHODS Seventy-five participants with knee osteoarthritis were randomly assigned to either: (a) High-frequency TENS, (b) Low-frequency TENS or (c) Transient Placebo TENS. Pain measures were collected pre- and post-treatment. Participants were genotyped on genes implicated in central or peripheral pain pathways: NGFB, NTRK1, EDNRA, EDNRB, EDN1, OPRM1, TAC1, TACR1, BDNF, BDKRB1, 5HTT, COMT, ESR2, IL6 and IL1B. Genetic association using linear regression modelling was performed separately for the transient placebo TENS subjects, and within the High-frequency TENS + Low-frequency TENS participants, including TENS level as a covariate. RESULTS In the placebo group, SNPs rs165599 (COMT) was significantly associated with an increased heat pain threshold (β = -1.87; p = .003) and rs6827096 (EDNRA) with an increased resting pain (β = 2.68; p = .001). Within the treatment groups, TENS effectiveness was reduced by the SNP rs6537485 (EDNRA) minor allele in relationship to mechanical sensation (β = 184.13; p = 5.5E-9). Individuals with the COMT rs4680 minor allele reported lowered pain at rest after TENS (β = -42.30; p = .001), with a higher magnitude of pain reduction (28 unit difference) in the low-frequency TENS group compared to the high-frequency TENS group (β = 28.37; p = .0004). CONCLUSIONS EDNRA and COMT are implicated in osteoarthritic knee pain and provide a basis for tailoring TENS interventions according to individual characteristics. SIGNIFICANCE Findings from this study demonstrate that genetic variation within the COMT and EDNRA genes influences the effectiveness of TENS, a non-pharmacologic pain-reduction intervention, in the context of osteoarthritic knee pain. Evidence such as this may contribute to risk models that provide a clinically useful tool for personalizing TENS interventions according to individual characteristics in order to best control pain and maximize functional status.

Purpose: The purpose of this evidence-based quality improvement (QI) project was to implement an oral care protocol in the adult in-patient care areas of a level 1 trauma hospital and to evaluate its impact on the incidence of hospital-acquired pneumonia (HAP).A standardized, evidence-based oral care protocol was implemented depending on the level of care required by each ventilated, at-risk, or short-term care patient. The QI project included the introduction of a new suction toothbrush kit for at-risk patients and, for short-term patients, a new short-term oral care kit that featured a more ergonomically appropriate toothbrush, a baking soda toothpaste, and an alcohol-free antiseptic mouthwash; the project also supported the continued use of the then current suction toothbrush kit for patients receiving mechanical ventilation. We examined medical records retrospectively and used International Classification of Diseases (ICD) 9 and ICD 10 codes for pneumonia not present on admission to determine the incidence of HAP, including nonventilator hospital-acquired pneumonia (NV-HAP) and ventilator-associated pneumonia (VAP), in two seven-month periods: the baseline and intervention periods. Both periods were in the same seven calendar months of two different years to control for seasonal differences in pneumonia rates. Documentation of oral care interventions were compared with oral care supply use reports to measure protocol adherence in the intervention group.There were 202 patients in the baseline group and 215 in the intervention group. A χ(2) analysis of NV-HAP incidence showed a statistically significant decrease in occurrences of NV-HAP from 52 in the baseline group to 26 in the intervention group (χ(2) = 12.8, df = 1, P0.001). The number of patient deaths from NV-HAP also differed significantly between groups, with 20 in the baseline group and four in the intervention group (χ(2) = 4.33, df = 1, P = 0.037). NV-HAP incidence per 1,000 discharges was calculated at 2.84 in the baseline group and 1.41 in the intervention group. Among patients on a ventilator, there were 56 ventilatorassociated events (VAEs) with 12 cases of VAP in the baseline group and 49 VAEs and three cases of VAP in the intervention group. Infection rates in the baseline group were calculated as 12.53 VAEs per 1,000 ventilator days and 2.87 cases of VAP per 1,000 ventilator days. The intervention group yielded a VAE rate of 14.29 per 1,000 ventilator days and a VAP rate of 1.26 per 1,000 ventilator days. Overall, nurses' adherence to the new oral care protocol ranged from 36% to 100% per month, with an average adherence to protocol of 76% as evidenced by oral care documentation and supply use.Nurses improved pneumonia outcomes by providing oral health interventions to all adult patients admitted to the hospital, which reduced overall hospital costs, length of stay, and patient mortality.

Aim To review the quantitative evidence concerning the effects of non-pharmacological interventions on reducing apathy in persons with dementia. Background Apathy, a prevalent behavioural symptom among persons with Alzheimer Disease, is defined as a disorder of motivation with deficits in behavioural, emotional and cognitive domains and is associated with serious social and physical obstacles. Non-pharmacological interventions show promise as symptom control modalities among persons with dementia. Design Quantitative systematic review. Data sources CINAHL, PubMed, PSYCHinfo and Cochrane Trials databases were searched for published English language research inclusive through December 2014, with no early year limiters set. Review methods Comprehensive searches yielded 16 international randomized controlled trials or quasi-experimental studies based on inclusion criteria and a rigorous quality appraisal process. Results A narrative summary analysis revealed that non-pharmacological interventions for apathy varied substantially and lacked specificity, conceptual clarity and were methodologically heterogeneous. Select interventions demonstrated effectiveness, but lacked systematic long-term follow-up. Limitations include publication bias and lack of a meta-analytic approach due to the methodological heterogeneity of included studies. Conclusion Study results demonstrate promise for the use of non-pharmacological interventions, particularly music-based interventions, in reducing apathy levels in individuals with dementia. Intervening to reduce apathy may have a positive clinical impact and healthcare providers should be encouraged to incorporate positive sources of interest and intellectual stimulation into care. However, future research is needed to examine the aetiologic mechanism and predictors of apathy, to improve evidence-based interventions and specificity and to optimize dosage and timing of non-pharmacological interventions across the disease trajectory.

Purpose The purpose of this EBP project was to align NG and OG tube placement and verification practices with evidence-based recommendations for children. Practice change An evidence-based NG/OG Tube Placement Algorithm was developed. The algorithm provided an individualized approach based on patient condition as well as a tiered approach that incorporated radiographs, tube measurement and marking, and pH testing. Methods A systematic appraisal of literature identified 40 studies supporting the development of the practice change. A 9-item questionnaire was administered to nurses across five pediatric units to assess current tube verification practices. Education was provided in participating units through a Competency Fair. Post-implementation evaluation included re-administering the practice survey and conducting a chart audit of NG/OG events occurring in the year following the practice change. Results Seventy-one nurses completed the pre-implementation survey; 64 nurses completed the post-implementation survey. Strategies for checking NG/OG placement varied across units prior to implementation; however, auscultation was the most likely to be used strategy and assessing pH was the least likely to be used strategy across units. Post-implementation, aspiration and checking pH were the most frequently endorsed assessment strategy, and auscultation was the least endorsed strategy. The post-implementation chart audit revealed that 73% of NG/OG tubes were checked for placement on insertion with radiograph or aspirate pH. Conclusions Implementation of an NG/OG Tube Placement Algorithm standardized NG/OG care across five pediatric units. Additional efforts are underway to further improve adherence to protocol in order to ensure safe, evidence-based practice for children with NG/OG tubes.

Purpose The purpose of this study was to investigate what specific ostomy self-care educational content is considered the most useful by the new ostomy patient after discharge. Design A cross-sectional, correlational design was used to address study aims. Subjects and setting The sample comprised 33 men and 27 women with a mean age of 55.58 ± 15.56 (mean ± SD) years, range 27 to 79 years old. The study setting was a 587-bed teaching hospital, level 1 trauma center in the Midwest, with Magnet designation. Methods Demographic data were collected during the patients' hospital stay as part of routine care. This information is used for follow-up with all ostomy patients who have surgery in this hospital. All of the participants in this study completed an interview administered by phone or in person. A semistructured interview guide was used to elicit participant perceptions of the usefulness of 4 categories of ostomy care, including (1) ostomy information (ostomy function), (2) activities of daily living (strategies to manage travel, bathing, intimacy, odor), (3) ostomy care (strategies for managing the ostomy), and (4) other informational needs (social support resources). Participants were asked to rate these 4 areas from most useful to least useful, using a 4-point scale. At the end of the interview, participants were asked, "Has there been anything that has happened or event related to your ostomy that your ostomy teaching did not prepare you for?" The interview took place several weeks after surgery or during their readmission visit for surgical ostomy takedown. Results Sixty-two patients were enrolled into the study, and 60 participants completed the data collection. The sample included 26 (43%) patients with ileostomies, 18 (30%) with colostomies, and 16 (27%) with urostomies. Ninety percent ranked the education category of ostomy self-care as the most useful content, 55% ranked information on resuming activities of daily living as the second most useful category, and 55% ranked general information as third most useful content area. Fifty respondents (83%) ranked ostomy support as the least useful. Nine (15%) of the participants felt unprepared for their first pouch leak, and 2 (3%) reported difficulty adjusting to the feel of the stool entering the pouch. Two patients would have liked more photos of peristomal skin conditions and how to treat them. Conclusions Since the category of ostomy self-care ranked highest, patient teaching for the new ostomy patient should focus on this skill set, including stoma care, how, and when to empty and change the pouch.

Previous studies identified a cluster of individuals with an autosomal recessive form of deafness that reside in a small region of mid-Michigan. We hypothesized that affected members from this community descend from a defined founder population. Using public records and personal interviews, we constructed a genealogical database that includes the affected individuals and their extended families as descendants of 461 settlers who emigrated from the Eifel region of Germany between 1836 and 1875. The genealogical database represents a 13-generation pedigree that includes 27,747 descendants of these settlers. Among these descendants, 13,784 are presumed living. Many of the extant descendants reside in a 90-square-mile area, and 52% were born to parents who share at least one common ancestor. Among those born to related parents, the median kinship coefficient is 3.7 × 10(-3). While the pedigree contains 2,510 founders, 344 of the 461 settlers accounted for 67% of the genome in the extant population. These data suggest that we identified a new population isolate in North America and that, as demonstrated for congenital hearing loss, this rural mid-Michigan community is a new resource to discover heritable factors that contribute to common health-related conditions.

Alzheimer’s disease (AD), the most common cause of irreversible dementia, continues to grow in prevalence as well as public health impact. Extensive research into the genetic etiology of AD has yielded knowledge of some genetic factors that are causative and other genetic factors that increase risk for disease. Consequently, the possibility of genetic testing in individuals with or at risk for AD is a question that nurses may be asked. Psychiatric-mental health (PMH) professionals are in key positions to influence the care of individuals who are considering the effect of genetic information on their health care decisions. Whether by working within interdisciplinary genetic counseling teams to provide direct specialty services or by developing skills to identify and refer individuals at risk for or concerned about their risk for AD, PMH nurses can play an important role in the health care of individuals and families experiencing AD. [ Journal of Psychosocial Nursing and Mental Health Services, 51 (11), 14–18.]

To examine whether a history of cancer increased the likelihood of a fall in community-dwelling older adults, and if cancer type, stage, or time since diagnosis increased falls.A longitudinal, retrospective, cohort study.A home- and community-based waiver program in Michigan.862 older adults aged 65 years or older with cancer compared to 8,617 older adults without cancer using data from the Minimum Data Set-Home Care and Michigan cancer registry.Reports of falls were examined for 90-180 days. Generalized estimating equations were used to compare differences between the groups.Cancer, falls, patient characteristics, comorbidities, medications, pain, weight loss, vision, memory recall, and activities, as well as cancer type, stage, and time since diagnosis.A fall occurred at a rate of 33% in older adults with cancer compared to 29% without cancer (p0.00). Those with a history of cancer were more likely to fall than those without cancer (adjusted odds ratio 1.16; 95% confidence interval [1.02, 1.33]; p = 0.03). No differences in fall rates were determined by cancer type or stage, and the odds of a fall did not increase when adding time since cancer diagnosis.The fall rate was higher in older adults with cancer than in older adults without cancer.Nurses need to assess fall risk and initiate fall prevention measures for older adults at the time of cancer diagnosis.When caring for older adults with cancer, nurses should be aware of an increased risk for falls. Healthcare staff also should be aware of an increased risk for falls in that population during cancer treatment. Evidence-based fall prevention measures should be included in care plans for older adult cancer survivors.

Purpose: Neuropsychiatric disorders contribute substantially to disease burden and quality of life across the lifespan and the globe. The purpose of this article is to review the state of the science regarding genomic contributions to selected common neuropsychiatric conditions and to examine the consequent immediate and future implications for nursing practice and research. Organizing Construct: Our work is guided by an ecological model that recognizes that common diseases are complex or multifactorial, meaning that multiple genomic and environmental factors contribute to their etiology. Methods: A review of the literature was conducted to determine the state of the science in relationship to the genomic contributions to selected neuropsychiatric disorders. Findings: Neuropsychiatric conditions are genomically heterogeneous, both within a single disorder and across groups of disorders. While recent genomic research yields clinically validated and useful information for a small subset of persons (e.g., predictive genetic testing for Huntington disease and early-onset Alzheimer disease), broad clinical application of genetic information is not yet available. In addition, the implications of genomics for the development and targeting of nonpharmacologic treatment strategies is largely unexplored. Conclusions: Further research is needed to expand knowledge beyond genomic risk for the presence of disease to knowledge about the genomic risk for symptoms, symptom burden, and tailored symptom management interventions. Clinical Relevance: Knowledge about the genomic influences on neuropsychiatric conditions suggests important implications for practicing nurses in the identification of persons at risk, provision of follow-up support, and in the administration of medications.

Background/Aims: Alzheimer disease (AD) is characterized by variability in the onset and progression of cognitive, functional and behavioral symptoms. The purpose of this study was to identify genetic correlates of symptom variability in persons with moderate-to-advanced AD. Methods: Repeated measures of cognition, function and behavior were collected from institutionalized persons with AD over 12 months. Candidate genes were assayed. Results: Single polymorphisms within the saitohin and APOE genes were associated with increased cognitive impairment and functional dependence. The APOE-ε4 allele was associated with increased baseline physical agitation. Conclusion: The development of predictive profiles for the clinical symptoms of AD may increase our ability to identify clinical subgroups for more targeted intervention.

Health concerns and management strategies among families of young and middle-age adults with Huntington’s disease (HD) are unknown. This study developed and tested psychometric properties of the Huntington Disease Family Concerns and Strategies Survey (HDFCSS). Focus group data from 91 adult family members were used to develop content. Content analysis yielded four domains that were transferred into Personal, Person With HD, Community Health Care Services, and Strategies scales. Focus group data, expert validation, and cognitive interviews demonstrated survey content validity. Cronbach’s alpha internal consistency coefficients for the scales were 0.83 or above. The measure can be used to generate reliable and valid data to identify adult family members’ health-related concerns and management strategies for themselves and persons with HD.

Some children report significant pain with peripheral intravenous catheter (IV) insertion, despite the appropriate use of topical lidocaine anesthetics. This analysis of data from an existing study identified factors related to variation in topical anesthetic effectiveness used for IV insertion. The children (n = 218) in this investigation were 4 to 10 years old and undergoing a scheduled IV insertion. Inclusion criteria were (1) topical anesthetic was used according to manufacturer's recommendations, (2) DNA material was available, and (3) child completed a self-report measure of pain intensity (Oucher scale). Low pain phenotype was defined as a pain intensity score of 0 to 3, and high pain phenotype was an intensity score of 4 to 10. Potential predictor variables included child age, gender, number of previous painful procedures, state and trait anxiety, temperament characteristics, and alleles in 3 candidate genes in a pain pathway influenced by topical anesthetics (endothelin-1 [ EDN1 ], endothelin receptor A [ EDNRA ], endothelin receptor B [ EDNRB ]). All subjects were genotyped for a single-nucleotide polymorphism in each gene. Children in the high pain group (n = 89) were significantly younger ( P P = .0029), scored higher for trait ( P = .0009) and state anxiety ( P = .0312), and had the EDNRA TT genotype (high pain group, TT 67.35%; low pain group, TT 39.47%; P = .026). Perspective The identification of factors that influence peripheral pain sensation aids in selecting the most appropriate pharmacologic and nonpharmacologic interventions. Until genotyping is available at a clinically prescriptive level, other predictors (eg, age and activity level) can be used to tailor pain-relieving strategies for children undergoing needle sticks.

The integration of molecular genetics approaches into the study of complex health phenomena is an increasingly important and available strategy for researchers across the health science disciplines. Pain sensation and response to painful stimuli are examples of complex health phenomena that are particularly amenable to molecular genetics approaches. Both human and animal model research suggests that differences in these responses may be related, in part, to variation in the genes that modulate sensation and behavior. The authors are currently managing a large cross-disciplinary research effort to identify child characteristics, including genotypes, that predict the degree of distress displayed by children following a painful medical procedure (i.e., IV insertion). The purpose of this article is to describe the strategies used to integrate molecular genetics methods into this project. The authors discuss the steps needed to complete this process, including (a) establishing a collaboration with genetics researchers and laboratory facilities, (b) developing and implementing a plan to manage biologic samples, and (c) incorporating genetics into the informed consent process.

The purpose of this needs assessment was to determine community leader perceptions of health-related needs and resources available to rural-dwelling older adults as part of a community–academic partnership in the rural Midwest. A community advisory board, in accordance with community-based participatory research principles, was influential in study design and implementation. Key informant interviews ( N = 30) were conducted with community leaders including professionals from schools, businesses, churches, and health care as well as government officials. Thematic analysis revealed “Family Is Central,” “Heritage,” “Strength,” and “Longevity” as important themes related to older adults and their health care needs within the community. “Close-knit” and “Church Is Central” were also identified as important aspects of elder care. Community leaders perceived the “Rural Economy,” “Distance to Resources,” and “Seasonal Resources” as significant barriers for older adults. This work contributes important insights into community leaders’ perceptions of health needs and challenges faced by older adults in rural settings.

Although a support person is required by many centers during the predictive testing protocol for Huntington disease (HD), little is known about the psychosocial impact of predictive testing on persons serving in this role. Eighteen adults who were support persons during predictive HD testing in one HD testing center completed a semi-structured interview to describe their experiences. Participants also completed the Impact of Events Scale (IES) to assess perceptions of emotional distress regarding predictive testing and the State Anxiety Scale of the State Trait Anxiety Inventory (STAI) to assess anxiety regarding the interview. State anxiety scores were similar to normative values for working adults. Although support persons for individuals with a positive gene test scored higher on all measures of the IES than those who were support persons for persons with negative gene mutation results, these differences were not statistically significant. Support persons identified aspects of the protocol that did not fit their needs, perceived the testing process as extending into subsequent caregiving responsibilities when the test was positive, and were uninformed regarding specific caregiving issues for family members with the gene mutation. The impact of the testing experience appeared to be most intense for those support persons who were at-risk offspring of probands. Findings suggest that individual assessment of support person needs may allow more focused counseling of support persons during predictive genetic HD testing. Collaboration with health care providers may facilitate symptom management following testing. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:353–359, 2000. © 2000 Wiley-Liss, Inc.

The purpose of this qualitative study was to describe the psychosocial impact and coping processes of normal (negative) results from predictive testing for an inherited neurodegenerative disease. Ten adults with normal results of predictive testing for the Huntington disease (HD) or the Pallido-Ponto-Nigral Degeneration (PPND) gene mutation participated in semi-structured interviews 1 month after receiving results, and seven of these participants were interviewed 6 months later. The major theme of Redefinition was derived using Knafl and Webster's analysis method (1988). People who received normal gene results experienced loss of former beliefs about themselves and developed new self definitions, relationships with family, and roles in society. This coping process evolved from a personal focus at 1 month to a broader future perspective at 6 months after testing. Identifying components of the redefinition process may be an important consideration in planning interventions to promote coping with normal gene results in persons within at-risk families.

1. Genetic research is providing new information about the structure and function of genes associated with diseases such as Alzheimer's disease. 2. The ability to perform genetic tests to diagnose or predict disease often exists before the ability to prevent or treat disease. 3. Genetic tests are associated with both benefits and risks, which likely will apply to the Alzheimer's disease population. 4. Safe and effective tests, laboratories of assured quality, competent providers, assured privacy of genetic information, and informed consumers are important prerequisites to the successful integration of genetic tests into health care services.

Neuropsychiatric disorders contribute substantially to disease burden and quality of life across the lifespan and the globe. The purpose of this article is to review the state of the science regarding genomic contributions to selected common neuropsychiatric conditions and to examine the consequent immediate and future implications for nursing practice and research.Our work is guided by an ecological model that recognizes that common diseases are complex or multifactorial, meaning that multiple genomic and environmental factors contribute to their etiology.A review of the literature was conducted to determine the state of the science in relationship to the genomic contributions to selected neuropsychiatric disorders.Neuropsychiatric conditions are genomically heterogeneous, both within a single disorder and across groups of disorders. While recent genomic research yields clinically validated and useful information for a small subset of persons (e.g., predictive genetic testing for Huntington disease and early-onset Alzheimer disease), broad clinical application of genetic information is not yet available. In addition, the implications of genomics for the development and targeting of nonpharmacologic treatment strategies is largely unexplored.Further research is needed to expand knowledge beyond genomic risk for the presence of disease to knowledge about the genomic risk for symptoms, symptom burden, and tailored symptom management interventions.Knowledge about the genomic influences on neuropsychiatric conditions suggests important implications for practicing nurses in the identification of persons at risk, provision of follow-up support, and in the administration of medications.

Critical care nurses have a responsibility to provide care from a family-systems perspective in which illness is not an isolated, time-limited event, but instead a highly stressful situation that evolves from the family's history and contributes dynamically toward its future. This article discusses nurse-family relationships, strategies to promote family-focused care, and mechanisms to make family-focused care a reality.

Alzheimer disease (AD) is characterized by variability in the onset and progression of cognitive, functional and behavioral symptoms. The purpose of this study was to identify genetic correlates of symptom variability in persons with moderate-to-advanced AD.Repeated measures of cognition, function and behavior were collected from institutionalized persons with AD over 12 months. Candidate genes were assayed.Single polymorphisms within the saitohin and APOE genes were associated with increased cognitive impairment and functional dependence. The APOE-ε4 allele was associated with increased baseline physical agitation.The development of predictive profiles for the clinical symptoms of AD may increase our ability to identify clinical subgroups for more targeted intervention.

Manifestations of Huntington disease (HD) prior to clinical diagnosis are not well understood. This study documents adult family members' perceptions of changes and their attempts to manage these changes in persons who had received a positive predictive molecular HD test prior to clinical diagnosis. Data were obtained from 19 adult family members in six focus groups in the US and Canada and one individual interview in the US. Changes reported by family members included problems in cognition and behavior, which are consistent with prior reports. In addition, family members observed changes in motor functioning, the ability to complete usual activities at work or at home, and interpersonal relationships with family and friends. Family members attempted to manage these changes by taking on new responsibilities and preparing for future caregiving. Lack of information about preclinical HD, difficulty in understanding changes that may represent early stages of HD, and efforts to maintain secrecy of the preclinical HD situation contribute to compromising the abilities of family members to respond to changes in the person with preclinical HD. Findings provide insights into alterations in cognition, behavior, and functioning observed by the family members prior to clinical diagnosis. Findings further support the need for a more comprehensive assessment and management of early HD symptoms as well as support for family members.

Purpose: To (a) provide an overview of chronic dementing conditions; (b) discuss the etiologic and clinical characteristics of Alzheimer disease (AD) and Parkinson disease (PD) within the framework of the family systems genetic illness model; and (c) to explore opportunities to enhance outcomes through the integration of genomics information and technologies into nursing practice. Design: An integrated review of the literature, including the organizing construct of the family systems genetic illness model. Findings: AD and PD are both influenced by genetic and environmental factors; in a small percentage of families, gene mutations are the primary etiologic factor. Genetic testing is an option for some families experiencing early-onset, familial disease. Presymptomatic and diagnostic genetic testing have limited clinical utility for the more common late-onset AD and PD. Conclusions: The current abilities of healthcare professionals to effectively intervene in people with AD and PD are limited by an incomplete understanding of the biologic basis of these diseases. Advances in genomics research and technology are providing the information and tools necessary to understand the molecular basis of these devastating disorders toward the goal of more specific and effective interventions.

Three genes with autosomal dominant mutations have been identified that may lead to Alzheimer symptoms in carriers before they reach age 60. Genetic tests exist for Alzheimer disease, but they are considered useful only for the small number of families with a history of early-onset illness. As researchers continue to uncover evidence of genetic links to Alzheimer disease, nurses can expect to field questions from family members about genetic testing. The article presents a variety of questions nurses may be asked, as well as possible answers.

Genetic research about Alzheimer's disease (AD) is advancing quickly, but the clinical utility of these gene discoveries remains unclear. The clinical context of genetic research in AD is discussed.

Alzheimer's disease and other chronic dementing conditions remain formidable challenges for individuals, their families, and health care providers. In addition to the challenges inherent in the sheer numbers affected, the complex and relatively unpredictable progression of these disorders complicates the delivery of interventions for health care providers. Identifying genetic and environmental etiologic factors and understanding their relationship to the natural history of dementia brings health care providers closer to more effective pharmacologic treatments and perhaps cure. In the meantime, genomics research brings professional nurses closer to providing more specific, perhaps individualized, anticipatory guidance and to providing nonpharmacologic interventions in a genotype-directed way to patients with chronic dementing conditions. The emergence of a genomics-based health care environment presents an opportunity and a challenge for gerontological nurse clinicians, educators, and researchers--an opportunity to evolve practice toward a higher level of specificity and effectiveness and a challenge to do so in a equitable and sensitive manner that improves health and quality of life for all served.

" Background: Despite the increasing number of individuals with dementia relocated from caregiving at home to a nursing home, there is only a small body of literature examining the influence of institutional family-oriented practices on family member perceptions of care and family-staff relationships. " Objective: The study tested the effects of the Family Involvement in Care partnership intervention on family members' perceptions of their caregiving role, relationships with staff, and satisfaction with the care of relatives with dementia residing in special care units as well as the effects on staff attitudes toward families and staff satisfaction with a caregiving role. " Methods: A quasi-experimental design with nonequivalent groups and repeated pretest and posttest measures was used to examine the effects of the Family Involvement in Care intervention. The study recruited 14 Midwestern nursing home special dementia care units, matched by aegis and staff turnover, and randomized from matched pairs to experimental and control conditions. The samples included 185 family members and 895 staff. The Family Involvement in Care intervention is a protocol for family and staff negotiation of a written partnership agreement. Family caregiver outcomes were measured using instruments pretested for reliability and validity. Data were analyzed using hierarchical linear modeling. " Results: With adjustment for multiple tests, statistically significant beneficial intervention effects were found in three areas of family caregiver outcomes (emotional reactions to the caregiving role, perceptions of relationships with staff, and perceptions of care for relatives) and in one of three areas of staff outcomes (staff perceptions of the family caregiving role). For family members, effects were found for the measures assessing loss, captivity, staff disregard, resident activities, and physical care. Some of the intervention effects for family members were found only for caregivers of the same generation as the resident. For staff, effects were found for measures of dominion, disruption by family, and irrelevance of family. " Conclusions: The results of the study indicate that the Family Involvement in Care intervention improves the caregiving experience of family members in nursing homes as well as nursing home staff attitudes toward family members. The intervention did not influence the perceived conflict with staff on the part of family caregivers or the perception of a partnership with family caregivers on the part of staff.

Although genetic discoveries affect nursing education, practice, and research, the use of genetic principles in research design and methodologies is a recent approach in nursing science. This article describes results of a needs assessment to identify barriers and strategies to overcome problems encountered by nurse scholars in the integration of genetic principles into nursing investigations. A Delphi survey was conducted with attendees at a nursing genetics research consensus meeting. Understanding genetics, need for sensitive measures, limited resources, and difficulties in networking were major themes identified as barriers. Key strategies include educational preparation, appropriate research methods, institutional support, and research collaboration. Nurses must understand genetics in order to participate in knowledge discovery regarding relationships between genetics, health, and nursing. Integration of genetic concepts into nursing science requires development of collegial relationships among nursing researchers, as well as with those in genetics and related disciplines.

Alzheimer disease (AD) is a neurodegenerative disorder, characterized by dementia. AD exhibits variability in age at onset, rate of progression, and specific cognitive, functional, and behavioral features. Genetic variants are potential modulators of phenotypic variability. The purpose of this study was to explore the relationship between a polymorphism in the Low Density Lipoprotein Receptor Related Protein-Associated Protein (LRPAP1) gene (4p16.3) and repeated measures of cognition, function, and behavior in persons with AD, using outcome data collected in two caregiver intervention studies. Thirty-seven subjects diagnosed with probable or possible AD were recruited. All subjects were genotyped for a 37 basepair insertion/deletion polymorphism in intron 5 of the LRPAP1 gene. No differences in allele or genotype frequencies by gender or by age at onset were identified. No statistically significant genotype effects upon cognition or behavior were identified. However, trends were noted in measures of language, with the LRPAP1 insertion-positive subjects exhibiting poorer language scores (average score difference = 28%, p = .158). LRPAP1 insertion-positive subjects also were more functionally impaired than subjects without the LRPAP1 insertion allele (F1,7 = 7.36, p = .030). These results suggest genetic variations at the LRPAP1 locus may modulate AD phenotype beyond risk for disease.

Purpose: To describe the expectations of those seeking presymptomatic gene testing for Huntington disease (HD). Identification of the gene for HD makes it possible to conduct testing to determine if a healthy person with a family history of HD has a mutation in this gene. Presymptomatic gene testing reveals the likelihood that a person will develop an inherited disease in the future. Understanding expectations allows for more complete assessment and counseling before presymptomatic gene testing for genetic diseases. Design: Descriptive qualitative. The population was people with a family history of HD. The sample was 17 asymptomatic adults with a positive family history of HD who requested presymptomatic gene identification atone tertiary genetic counseling program, 1995 to 1996. Methods: Semi-structured interviews concerning expectations of adults seeking presymptomatic genetic testing were conducted by telephone. Interviews occurred after the individuals had requested presymptomatic gene identification but before results were reported. Content analysis was used to identify the expectations and questions of those who had decided to seek presymptomatic testing. Findings: Common expectations included anticipating relief from uncertainty, hoping to plan for their future health care and life decisions, wanting to know if their children were at risk of developing HD, anticipating loss of family support from relatives, expecting relief from self monitoring, venturing into the unknown, and planning for disclosure. Participants attempted to avoid their loss of genetic privacy by withholding the decision to seek testing from their primary care providers. Conclusions: Participants seeking presymptomatic HD gene testing consider the effect of gene identification on themselves and their families. A desire to limit insurance or employment discrimination contributes to subjects not seeking input from health care providers in their decision making.

This qualitative study examined experiences of adults requesting genetic-carrier testingforfour autosomal-recessive and X-linked-recessive disorders. The sample consisted of 34 adults with a positive family history or membership in an ethnic group at risk for the inherited disorder A semistructured interview guide was used to collect data during an interview I month after receipt of test results. Noncarriers experienced benefits of emotional relief andfreedom to move ahead with reproductive planning. Carriers experienced burdens of sadness and loss of reproductive expectations. Some subjects in both groups experienced difficulty disclosing results to selected family members and expressed concerns regarding disclosure of testing to insurance providers.

Background Nonalcoholic fatty liver disease (NAFLD) is a highly prevalent condition strongly associated with obesity that can result in premature death. Little is known about the symptoms experience in this progressive disease, preventing health care providers from intervening in the early stages. Purpose This study explicated symptoms in persons with NAFLD at higher risk of disease progression defined as the presence of one or two copies of the PNPLA3 (rs738409)-G allele. Method Guided by the Symptoms Experience Model, 42 persons older than 21 years of age with diagnosed NAFLD were recruited from Western Michigan specialty offices in this cross-sectional descriptive study design. The Memorial Symptom Assessment Scale was used to measure the symptoms experience. Discussion Participants (97%) experienced 1 or more symptoms (average number of symptoms 12.02, standard deviation=8.817). There was no statistically significant relationship between symptoms and the PNPLA3 (rs738409) variants. Significant predictors of mean frequency, severity, and distress of symptoms (the Total Memorial Symptom Scale) ( F [15, 25] = 2.609, p = .016) were identified. Conclusion People with NAFLD experience an average of 12 symptoms.

Innovations in health information technology have ushered in a new era of health care. The use of emerging information and communication technology to improve or enable health and health care is the central focus of consumer health informatics (CHI). Traditionally, CHI interventions to promote health and well-being have targeted the individual or family. Advances in genomic health and the emergence of public health informatics call for broadening the scope of CHI. The authors discuss CHI from the point-of-view of the consumer (e.g., from individuals to policy makers) and the level of health data from the subcellular (e.g., genetic or protein structures) to population (e.g., geographically-referenced information).

Nonpharmacologic Management of Agitated Behaviors in Persons with Alzheimer Disease and Other Chronic Dementing Conditions