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A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.

ABSTRACT: The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative diseases can be detected years, if not decades, earlier than previously thought. To date, these scientific advances have not provoked any parallel translational or clinical improvements. There is an urgency to capitalize on this momentum so earlier detection of disease can be more readily translated into improved health-related quality of life for families at risk for, or suffering with, neurodegenerative diseases. In this review, we discuss health-related quality of life (HRQOL) measurement in neurodegenerative diseases and the importance of these "patient reported outcomes" for all clinical research. Next, we address HRQOL following early identification or predictive genetic testing in some neurodegenerative diseases: Huntington disease, Alzheimer's disease, Parkinson's disease, Dementia with Lewy bodies, frontotemporal dementia, amyotrophic lateral sclerosis, prion diseases, hereditary ataxias, Dentatorubral-pallidoluysian atrophy and Wilson's disease. After a brief report of available direct-to-consumer genetic tests, we address the juxtaposition of earlier disease identification with assumed reluctance toward predictive genetic testing. Forty-one studies examining health-related outcomes following predictive genetic testing for neurodegenerative disease suggested that (a) extreme or catastrophic outcomes are rare; (b) consequences commonly include transiently increased anxiety and/or depression; (c) most participants report no regret; (d) many persons report extensive benefits to receiving genetic information; and (e) stigmatization and discrimination for genetic diseases are poorly understood and policy and laws are needed. Caution is appropriate for earlier identification of neurodegenerative diseases but findings suggest further progress is safe, feasible and likely to advance clinical care.

SUBMITTER: Paulsen JS

PROVIDER: S-EPMC3833259 | biostudies-other | 2013 Nov

REPOSITORIES: biostudies-other

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A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.

Paulsen Jane S JS Nance Martha M Kim Ji-In JI Carlozzi Noelle E NE Panegyres Peter K PK Erwin Cheryl C Goh Anita A McCusker Elizabeth E Williams Janet K JK

Progress in neurobiology 20130911

The past decade has witnessed an explosion of evidence suggesting that many neurodegenerative diseases can be detected years, if not decades, earlier than previously thought. To date, these scientific advances have not provoked any parallel translational or clinical improvements. There is an urgency to capitalize on this momentum so earlier detection of disease can be more readily translated into improved health-related quality of life for families at risk for, or suffering with, neurodegenerati ...[more]

PMID: 24036231

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Project description:BACKGROUND:Nursing home residents with early-onset neurodegenerative diseases are often younger in comparison with other residents, and need different, often more complex care. Accordingly, the measurements currently used for measuring quality of care in nursing homes may not be suitable for use in this target group. Little is known about the experiences of these residents and of their (in) formal caregivers regarding the quality of care they receive. Therefore, the aim of this scoping review is to explore which instruments are available for measuring the quality of care for nursing home residents with early-onset neurodegenerative diseases (excluding dementia), from the perspective of the resident and of (in) formal caregivers. METHODS:A literature search was performed in the databases Pubmed, Embase, Web of Science and Cinahl. The search strategy consisted of four main concepts: neurodegenerative diseases, quality of care, nursing homes and perspectives of residents, (in) formal caregivers. Studies were included if they used instruments and/or strategies to measure quality of care, focused on nursing home residents with early-onset neurodegenerative diseases and the perspective of either the resident or (in) formal caregiver. RESULTS:From a total of 809 identified articles, 87 full text articles were screened for eligibility. Five studies were included, only one of which described an instrument. The other four used topic lists and/or themes to measure quality of care. In total, 60 items related to quality of care could be derived. From these 60 items, eight overarching domains were found, with a subdivision into items derived, respectively, from the residents', informal and formal caregivers' perspective: 'emotional support', 'physical support', 'social support', 'care', 'care content', 'expertise', 'communication' and 'organization of care'. CONCLUSIONS:Currently, there are no methods for assessing the quality of care specifically focused on nursing home residents with early-onset neurodegenerative diseases. Therefore, the items retrieved in this review give an overview of important topics for measuring the quality of care for this target group, from the perspective of the resident, and of the informal and formal caregivers. These items might be used to develop a tailored instrument for assessing the quality of care for nursing home residents with early-onset neurodegenerative diseases.

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A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.

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A review of quality of life after predictive testing for and earlier identification of neurodegenerative diseases.

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