Adolescents' Transition to Self-Management of a Chronic Genetic Disorder

University of Pennsylvania School of Nursing, Biobehavioral Research Center, Philadelphia, Pennsylvania 19104, USA.
Qualitative Health Research (Impact Factor: 2.19). 05/2008; 18(4):441-57. DOI: 10.1177/1049732308314853
Source: PubMed


Self-management of chronic illness requires acquisition of self-care skills such as seeking knowledge, adhering to recommendations, practicing healthy behaviors, and life-long self-surveillance. This article describes the core problem and psychosocial processes by which parents transfer, and children take on, the responsibility for managing a chronic genetic condition. Individuals with Marfan syndrome (MFS), their parents, and health care providers were the sources of empirical data. A sample of 108 providers, parents, and individuals with MFS were recruited through a genetics clinic and the National Marfan Foundation. The core problem of "becoming fit and fitting in" is resolved via concurrent psychosocial processes: shifting perspective, shifting orientation, shifting sphere, shifting ownership, and shifting reasoning. Transition to self-management is more than planning the transfer of services from pediatric to adult care, and involves gradual changes in knowledge, attitudes, and behavior influenced by parents, peers, and health care providers. Transition to self-management is part of an evolving model of participation in life-long surveillance.

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    • "In instances of disagreement, discussion continued until a consensus was achieved. However, 16 studies were eliminated for the following reasons: (a) the purpose of two studies was not directly related to HCT (Anie & Telfair, 2005; Giarelli et al., 2008; Young et al., 2005); (b) the study results were not differentiated by age groups (Al-Yateem, 2012; Wolfstadt, Kaufman, Levitin, & Kaufman, 2011); (c) the findings of 10 studies could not be identified by sample subgroupings (i.e., parents and providers; LoCasale-Crouch & Johnson, 2005; Pickler, Kellar-Guenther, & Goldson, 2011; Reiss, Gibson, & Walker, 2005; Singh et al., 2010; van Staa, Jedeloo, van Meeteren, & Latour, 2011; Vijayan, Benin, Wagner, Romano, & Andiman, 2009; Visentin, Koch, & Kralik, 2006; Wiener, Zobel, Battles, & Ryder, 2007; Young et al., 2009); (d) in one study, parents served as proxy responders for adolescents (Kirk, 2008); and (e) the studies were tool validation studies (Shaw, Southwood, & McDonagh, 2006). The final number of studies that met the criteria for this review was 35 (Tables 1 and 2). "
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    ABSTRACT: A better understanding of the needs of adolescents and emerging adults with special health care needs (AEA-SHCNs) is essential to provide health care transition services that represent best practices. The purpose of this systematic review was to evaluate the research on health care transition for AEA-SHCNs from their perspectives. A comprehensive literature review of research publications since 2005 was performed using the PubMed, Cumulative Index to Nursing and Allied Health Literature, and EBSCO databases. Thirty-five studies met the final review criteria. The process of transition from child to adult for AEA-SHCNs is complex. Individuals experiencing the transition desire to be a part of the process and want providers who will listen and be sensitive to their needs, which are often different from others receiving health care at the same facility. More research that considers the voice of the AEA-SHCNs related to transition from pediatric to adult care is needed.
    Nursing outlook 07/2013; 61(5). DOI:10.1016/j.outlook.2013.01.008 · 1.59 Impact Factor
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    • "However, there are no specific services for adults with developmental disabilities [Stille and Antonelli, 2004; Sullivan et al., 2011], and hospitalization in adult Internal Medicine, Surgery or Rehabilitation Units may be a considerable challenge because they are reluctant to accommodate patients with developmental disabilities [Royal College of Paediatrics and Child Health, 2003; Bedeschi et al., 2011]. A greater incidence of even severe psychiatric disorders, such as specific phobias, depression, and anxiety that worsen with increasing age, forms part of the characteristic WBS neurobehavioral profile [Howlin and Udwin, 2006; McGorry, 2007; Pober and Morris, 2007; Giarelli et al., 2008; Singh, 2009; Singh et al., 2010; Bedeschi et al., 2011; Sullivan et al., 2011]. "
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    ABSTRACT: There are between 5,000 and 8,000 distinct rare diseases (RDs) affecting 6-8% of the population, most of which are caused by genetic defects. Many are highly complex, childhood-onset, multi-system disorders that are often associated with developmental disability, and require lifelong, highly specialized care and support. As larger numbers of children with previously fatal RDs survive into adulthood, they encounter significant challenges in transitioning from family-centered, developmentally focused, multidisciplinary pediatric care to a less supportive adult healthcare system that is often unfamiliar with these conditions. This paper discusses the challenges of the transition from pediatric to adult health care in two groups of patients with multisystem genetic RDs (neurofibromatosis 1 [NF1] and Williams-Beuren syndrome [WBS]), and analyzes strategies for making the process easier for patients with and without developmental disabilities. Our findings show that there are still no guidelines in national healthcare programs on how to transition RD adolescents with and without developmental disabilities, and only a few pediatric centers have implemented the elements of transition in their general practice. Evidence regarding programs to facilitate transition is inconclusive and the transition from pediatric medicine to adult medicine for RDs remains a major challenge. However, transition requires both time and personnel, which are difficult to find in periods of fiscal austerity. Nevertheless, we should strongly advocate for governments investing more into transition infrastructure or they will face increased long-term social and economic costs due to poor treatment compliance, disengagement from services, increased genetic risks, and higher rates of disease-related complications. © 2013 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part A 07/2013; 161(7). DOI:10.1002/ajmg.a.35982 · 2.16 Impact Factor
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    • "While much can be gleaned from this evidence, most adult self-management interventions do not address the issues associated with life-long self-management for physical disabilities or chronic illnesses diagnosed in childhood [28] or the impact of developmental stages on self-care abilities [21]. "
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    ABSTRACT: Purpose: Evidence shows that effective self-management behaviors have the potential to improve health outcomes, quality of life, self-efficacy and reduce morbidity, emergency visits and costs of care. A better understanding of self-management interventions (i.e. programs that help with managing symptoms, treatment, physical and psychological consequences) is needed to achieve a positive impact on health because most children with a disability now live well into adulthood. Method: A systematic review of self-management interventions for school age youth with physical disabilities was undertaken to assess their effectiveness. Comprehensive electronic searches using international web-based reference libraries were conducted for peer-reviewed and gray literature published between 1980 and January 2012. Eligible studies examined the effectiveness of self-management interventions for children and youth between 6 and 18 years of age with congenital or acquired physical disabilities. Studies needed to include a comparison group (e.g. single group pre/post-test design) and at least one quantifiable health-related outcome. Results: Of the 2184 studies identified, six met the inclusion criteria; two involved youth with spina bifida and four with juvenile arthritis. The majority of the interventions ran several sessions for at least 3 months by a trained interventionist or clinician, had one-to-one sessions and meetings, homework activities and parental involvement. Although outcomes varied between the studies, all of the interventions reported at least one significant improvement in either overall self-management skills or a specific health behavior. Conclusions: While self-management interventions have the potential to improve health behaviors, there were relatively few rigorously designed studies identified. More studies are needed to document the outcomes of self-management interventions, especially their most effective characteristics for children and youth with physical disabilities. Implications for Rehabilitation There is some evidence to suggest that self-management interventions for children and youth with spina bifida and arthritis can improve self-management behaviors and health outcomes. Parents' involvement should be considered in encouraging self-management behaviors at different stages of their child's development. Much work is needed to explore the longer term implications of self-management interventions for youth with physical disabilities as well as the impact on health care utilization.
    Disability and Rehabilitation 04/2013; 36(4). DOI:10.3109/09638288.2013.785605 · 1.99 Impact Factor
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