Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

<p>Abstract</p> <p>Background</p> <p>Human development is a process of change, adaptation and growth. Throughout this process, transitional events mark important points in time when one's life course is significantly altered. This study captures transitional life events brought about or altered by Friedreich ataxia, a progressive chronic illness leading to disability, and the impact of these events on an affected individual's life course.</p> <p>Methods</p> <p>Forty-two adults with Friedreich ataxia (18-65y) were interviewed regarding their perceptions of transitional life events. Data from the interviews were coded and analyzed thematically using an iterative process.</p> <p>Results</p> <p>Identified transitions were either a direct outcome of Friedreich ataxia, or a developmental event altered by having the condition. Specifically, an awareness of symptoms, fear of falling and changes in mobility status were the most salient themes from the experience of living with Friedreich ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work.</p> <p>Conclusions</p> <p>Friedreich ataxia increased the complexity and magnitude of transitional events for study participants. Transitional events commonly represented significant loss and presented challenges to self-esteem and identity. Findings from this study help alert professionals of potentially challenging times in patients' lives, which are influenced by chronic illness or disability. Implications for developmental counseling approaches are suggested for genetic counseling.</p> <p>Background</p> <p>Human development can be described in terms of key transitional events, or significant times of change. Transitional events initiate shifts in the meaning or direction of life and require the individual to develop skills or utilize coping strategies to adapt to a novel situation <abbrgrp><abbr bid="B1">1</abbr><abbr bid="B2">2</abbr></abbrgrp>. A successful transition has been defined as the development of a sense of mastery over the changed event <abbrgrp><abbr bid="B3">3</abbr></abbrgrp>.</p> <p>Transitions can be influenced by a variety of factors including one's stage of development, such as graduation from high school, historical events, including war, and idiosyncratic factors, such as health status <abbrgrp><abbr bid="B4">4</abbr><abbr bid="B5">5</abbr></abbrgrp>. Of particular interest in the present study are transitional life events, brought about or altered by progressive chronic illness and disability, and the impact of these events on the lives of affected individuals.</p> <p>It has been recognized that the clinical characteristics of a chronic illness or disability may alter the course and timing of many developmentally-related transitional events <abbrgrp><abbr bid="B6">6</abbr></abbrgrp>. For example, conditions associated with a shortened lifespan may cause an individual to pursue a career with a shorter course of training <abbrgrp><abbr bid="B6">6</abbr></abbrgrp>. Specific medical manifestations may also promote a lifestyle incongruent with developmental needs <abbrgrp><abbr bid="B6">6</abbr><abbr bid="B7">7</abbr></abbrgrp>. For example, an adolescent with a disability may have difficulty achieving autonomy because of his/her physical dependence on others.</p> <p>In addition to the aforementioned effects of chronic illness and disability on developmentally-related transitional events, a growing body of literature has described disease-related transitional events: those changes that are a direct result of chronic illness and disability. Diagnosis has received attention as being a key disease-related transitional event <abbrgrp><abbr bid="B8">8</abbr><abbr bid="B9">9</abbr></abbrgrp>. Studies have also noted other disease transitions related to illness trajectory <abbrgrp><abbr bid="B10">10</abbr></abbrgrp>, as the clinical features of the disease may require the individual to make specific adaptations. Disease-related events have also been described in terms of accompanying psychological processes, such as one's awareness of differences brought about by illness <abbrgrp><abbr bid="B11">11</abbr></abbrgrp>.</p> <p>While disease-related events are seemingly significant, the patient's perception of the events is varied. Some events may be perceived as positive experiences for the individual. For example, a diagnosis may end years of uncertainty. Some individuals may perceive these transitional events as insignificant, as they have accommodated to the continual change brought about by a chronic disease <abbrgrp><abbr bid="B12">12</abbr><abbr bid="B13">13</abbr></abbrgrp>.</p> <p>The aforementioned impact of disability and chronic illness on transitional events may create psychological stress. Developed by Lazarus and Folkman, the Transitional Model of Stress and Coping describes the process of adaptation to a health condition <abbrgrp><abbr bid="B14">14</abbr></abbrgrp>. This model purports that individuals first appraise a stressor and then utilize a variety of coping strategies in order to meet the stressor's demands <abbrgrp><abbr bid="B14">14</abbr></abbrgrp>. Thus, in the context of chronic illness, the ability of the individual to cope successfully with the stress of a health threat contributes to the process of overall adaptation to the condition.</p> <p>The process of adaptation can be more complex when the chronic illness or disability is progressive. Each transition brought about or altered by the disability may also represent additional loss, including the loss of future plans, freedom in social life and the ability to participate in hobbies <abbrgrp><abbr bid="B15">15</abbr></abbrgrp>. These losses may be accompanied by grief, uncertainty, and a continual need for adaptation <abbrgrp><abbr bid="B16">16</abbr><abbr bid="B17">17</abbr></abbrgrp>.</p> <p>Friedreich ataxia (FRDA) is one example of a progressive disorder, leading to adolescent and adult onset disability. To better understand patients' perceptions of key transitional events and the factors perceived to facilitate progression through these events, individuals with FRDA were interviewed.</p> <p>FRDA is a rare, progressive, neurodegenerative disorder affecting approximately one in 30,000 people in the United States <abbrgrp><abbr bid="B18">18</abbr></abbrgrp>. It equally affects both men and women. Individuals with FRDA experience progressive muscle weakness and loss of coordination in the arms and legs. For most patients, ataxia leads to motor incapacitation and full-time use of a wheelchair, commonly by the late teens or early twenties. Other complications such as vision and hearing impairment, dysarthria, scoliosis, diabetes mellitus and hypertrophic cardiomyopathy may occur <abbrgrp><abbr bid="B19">19</abbr><abbr bid="B20">20</abbr></abbrgrp>. Cardiomyopathy and respiratory difficulties often lead to premature death at an average age of 37 years <abbrgrp><abbr bid="B21">21</abbr></abbrgrp>. Currently, there are no treatments or cures for FRDA. Little is known about the specific psychological or psychosocial effects of the condition.</p> <p>FRDA is an autosomal recessive condition. The typical molecular basis of Friedreich ataxia is the expansion of a GAA trinucleotide repeat in both copies of the <it>FXN </it>gene <abbrgrp><abbr bid="B22">22</abbr></abbrgrp>. Age of onset usually occurs in late childhood or early adolescence. However, the availability of genetic testing has identified affected individuals with an adult form of the condition. This late-onset form is thought to represent approximately 10-15% of the total FRDA population <abbrgrp><abbr bid="B23">23</abbr></abbrgrp>.</p> <p>Health care providers of individuals with progressive, neurodegenerative disorders can help facilitate their patients' progression through transitional events. Data suggest that improvements should be made in the care of these individuals. Shaw et al. <abbrgrp><abbr bid="B24">24</abbr></abbrgrp> found that individualized care that helps to prepare patients for transition is beneficial. Beisecker et al. <abbrgrp><abbr bid="B25">25</abbr></abbrgrp> found that patients desire not only physical care from their providers, but also emotional and psychosocial support.</p> <p>Genetic counselors have an important opportunity to help patients with neuromuscular disorders progress through transitional events, as several of these conditions have a genetic etiology. Genetic counselors in pediatric and adult settings often develop long-term relationships with patients, due to follow-up care. This extended relationship is becoming increasingly common as genetic counselors move into various medical sub-specialties, such as neurology, ophthalmology, oncology and cardiology.</p> <p>The role of the genetic counselor in addressing the psychosocial needs of patients has been advocated, but rarely framed in the context of developmental events <abbrgrp><abbr bid="B26">26</abbr></abbrgrp>. Data suggest that patients may not expect a genetic counselor to address psychosocial needs <abbrgrp><abbr bid="B27">27</abbr></abbrgrp>. In a survey of genetic counseling patients, Wertz <abbrgrp><abbr bid="B28">28</abbr></abbrgrp> found a majority of respondents understood genetic conditions to have a moderate to serious effect on family life and finances, while almost half perceived there to be an effect on the spouse, quality of life, and the relationship between home and work. However, these topics were reportedly not discussed within genetic counseling sessions <abbrgrp><abbr bid="B27">27</abbr><abbr bid="B28">28</abbr></abbrgrp>. Overall, there is limited information about the experiences of transitional life events in FRDA, as well as a lack of recommendations for genetic counselors and other health care providers to assist patients through these events.</p> <p>Our study investigated perceptions of patients with Friedreich ataxia to 1) identify key transitional events and specific needs associated with events; 2) describe perception of factors to facilitate progression through the identified events; and 3) explore the actual or potential role of the health care provider in facilitating adaptation to the identified events. Data were used to make suggestions for developmental genetic counseling approaches in the context of ongoing care of clients with hereditary, progressive, neurodegenerative conditions.</p

Nonequilibrium clumped isotope signals in microbial methane

Methane is a key component in the global carbon cycle with a wide range of anthropogenic and natural sources. Although isotopic compositions of methane have traditionally aided source identification, the abundance of its multiply-substituted “clumped” isotopologues, e.g., 13CH3D, has recently emerged as a proxy for determining methane-formation temperatures; however, the impact of biological processes on methane’s clumped isotopologue signature is poorly constrained. We show that methanogenesis proceeding at relatively high rates in cattle, surface environments, and laboratory cultures exerts kinetic control on 13CH3D abundances and results in anomalously elevated formation temperature estimates. We demonstrate quantitatively that H2 availability accounts for this effect. Clumped methane thermometry can therefore provide constraints on the generation of methane in diverse settings, including continental serpentinization sites and ancient, deep groundwaters.National Science Foundation (U.S.) (EAR-1250394)National Science Foundation (U.S.) (EAR-1322805)Deep Carbon Observatory (Program)Natural Sciences and Engineering Research Council of CanadaDeutsche Forschungsgemeinschaft (Gottfried Wilhelm Leibniz Program)United States. Dept. of Defense (National Defense Science and Engineering Graduate Fellowship)Neil & Anna Rasmussen FoundationGrayce B. Kerr Fund, Inc. (Fellowship)MIT Energy Initiative (Shell-MITEI Graduate Fellowship)Shell International Exploration and Production B.V. (N. Braunsdorf and D. Smit of Shell PTI/EG grant

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While the study of nationalism and national identity has flourished in the last decade, little attention has been devoted to the conditions under which natural environments acquire significance in definitions of nationhood. This article examines the identity-forming role of landscape depictions in two polyethnic nation-states: Canada and Switzerland. Two types of geographical national identity are identified. The first – what we call the ‘nationalisation of nature’– portrays zarticular landscapes as expressions of national authenticity. The second pattern – what we refer to as the ‘naturalisation of the nation’– rests upon a notion of geographical determinism that depicts specific landscapes as forces capable of determining national identity. The authors offer two reasons why the second pattern came to prevail in the cases under consideration: (1) the affinity between wild landscape and the Romantic ideal of pure, rugged nature, and (2) a divergence between the nationalist ideal of ethnic homogeneity and the polyethnic composition of the two societies under consideration

Air pollution and the microvasculature: A cross-sectional assessment of in vivo retinal images in the population-based multi-ethnic study of atherosclerosis (MESA)

10.1371/journal.pmed.1000372PLoS Medicine711

Neutrophil-derived miR-223 as local biomarker of bacterial peritonitis

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Genome-wide association study identifies loci on 12q24 and 13q32 associated with Tetralogy of Fallot

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Interlinkages: Governance for Sustainability Chapter 8

The Earth functions as a system: atmosphere, land, water, biodiversity and human society are all linked in a complex web of interactions and feedbacks. Environment and development challenges are interlinked across thematic, institutional and geographic boundaries through social and environmental processes. The state of knowledge on these interlinkages and implications for human well-being are highlighted in the following messages: Environmental change and development challenges are caused by the same sets of drivers. They include population change, economic processes, scientific and technological innovations, distribution patterns, and cultural, social, political and institutional processes