BACKGROUND AND AIMS: To assess experts' preference for sarcopenia outcomes. METHODS: A discrete-choice experiment was conducted among 37 experts (medical doctors and researchers) from different countries around the world. In the survey, they were repetitively asked to choose which one of two hypothetical patients suffering from sarcopenia deserves the most a treatment. The two hypothetical patients differed in five pre-selected sarcopenia outcomes: quality of life, mobility, domestic activities, fatigue and falls. A mixed logit panel model was used to estimate the relative importance of each attribute. RESULTS: All sarcopenia outcomes were shown to be significant, and thus, important for experts. Overall, the most important sarcopenia outcome was falls (27%) followed by domestic activities and mobility (24%), quality of life (15%) and fatigue (10%). DISCUSSION AND CONCLUSION: Compared to patient's preferences, experts considered falls as a more important outcome of sarcopenia, while the outcomes fatigue and difficulties in domestic activities were considered as less important.
BACKGROUND AND AIMS: To assess experts' preference for sarcopenia outcomes. METHODS: A discrete-choice experiment was conducted among 37 experts (medical doctors and researchers) from different countries around the world. In the survey, they were repetitively asked to choose which one of two hypothetical patients suffering from sarcopenia deserves the most a treatment. The two hypothetical patients differed in five pre-selected sarcopenia outcomes: quality of life, mobility, domestic activities, fatigue and falls. A mixed logit panel model was used to estimate the relative importance of each attribute. RESULTS: All sarcopenia outcomes were shown to be significant, and thus, important for experts. Overall, the most important sarcopenia outcome was falls (27%) followed by domestic activities and mobility (24%), quality of life (15%) and fatigue (10%). DISCUSSION AND CONCLUSION: Compared to patient's preferences, experts considered falls as a more important outcome of sarcopenia, while the outcomes fatigue and difficulties in domestic activities were considered as less important. ; Peer reviewed
Abstract Background Aims of the present study are the following: 1. to describe the rationale and methodology of the Services and Health for Elderly in Long TERm care (SHELTER) study, a project funded by the European Union, aimed at implementing the interRAI instrument for Long Term Care Facilities (interRAI LTCF) as a tool to assess and gather uniform information about nursing home (NH) residents across different health systems in European countries; 2. to present the results about the test-retest and inter-rater reliability of the interRAI LTCF instrument translated into the languages of participating countries; 3 to illustrate the characteristics of NH residents at study entry. Methods A 12 months prospective cohort study was conducted in 57 NH in 7 EU countries (Czech Republic, England, Finland, France, Germany, Italy, The Netherlands) and 1 non EU country (Israel). Weighted kappa coefficients were used to evaluate the reliability of interRAI LTCF items. Results Mean age of 4156 residents entering the study was 83.4 ± 9.4 years, 73% were female. ADL disability and cognitive impairment was observed in 81.3% and 68.0% of residents, respectively. Clinical complexity of residents was confirmed by a high prevalence of behavioral symptoms (27.5% of residents), falls (18.6%), pressure ulcers (10.4%), pain (36.0%) and urinary incontinence (73.5%). Overall, 197 of the 198 the items tested met or exceeded standard cut-offs for acceptable test-retest and inter-rater reliability after translation into the target languages. Conclusion The interRAI LTCF appears to be a reliable instrument. It enables the creation of databases that can be used to govern the provision of long-term care across different health systems in Europe, to answer relevant research and policy questions and to compare characteristics of NH residents across countries, languages and cultures.
Introduction: Various operational definitions have been proposed to assess the frailty condition among older individuals. Our objective was to assess how practitioners measure the geriatric syndrome of frailty in their daily routine. Methods: An online survey was sent to national geriatric societies affiliated to the European Union Geriatric Medicine Society (EUGMS) and to members of the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO). Results: A total of 388 clinicians from 44 countries answered to the survey. Most of them were medical doctors (93%), and their primary field of practice was geriatrics (83%). Two hundred and five clinicians (52.8%) always assessed frailty in their daily practice, 38.1% reported to "sometimes" measure it, and 9.1% never assess it. A substantial proportion of clinicians (64.9%) diagnose frailty using more than one instrument. The most widely used tool was the gait speed test, adopted by 43.8% of the clinicians, followed by clinical frailty scale (34.3%), the SPPB test (30.2%), the frailty phenotype (26.8%) and the frailty index (16.8%). Conclusion: A variety of tools is used to assess frailty of older patients in clinical practice highlighting the need for standardisation and guidelines.
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Importance: Juvenile amyotrophic lateral sclerosis (ALS) is a rare form of ALS characterized by age of symptom onset less than 25 years and a variable presentation. Objective: To identify the genetic variants associated with juvenile ALS. Design, Setting, and Participants: In this multicenter family-based genetic study, trio whole-exome sequencing was performed to identify the disease-associated gene in a case series of unrelated patients diagnosed with juvenile ALS and severe growth retardation. The patients and their family members were enrolled at academic hospitals and a government research facility between March 1, 2016, and March 13, 2020, and were observed until October 1, 2020. Whole-exome sequencing was also performed in a series of patients with juvenile ALS. A total of 66 patients with juvenile ALS and 6258 adult patients with ALS participated in the study. Patients were selected for the study based on their diagnosis, and all eligible participants were enrolled in the study. None of the participants had a family history of neurological disorders, suggesting de novo variants as the underlying genetic mechanism. Main Outcomes and Measures: De novo variants present only in the index case and not in unaffected family members. Results: Trio whole-exome sequencing was performed in 3 patients diagnosed with juvenile ALS and their parents. An additional 63 patients with juvenile ALS and 6258 adult patients with ALS were subsequently screened for variants in the SPTLC1 gene. De novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient) were identified in 3 unrelated patients diagnosed with juvenile ALS and failure to thrive. A fourth variant (p.Leu39del) was identified in a patient with juvenile ALS where parental DNA was unavailable. Variants in this gene have been previously shown to be associated with autosomal-dominant hereditary sensory autonomic neuropathy, type 1A, by disrupting an essential enzyme complex in the sphingolipid synthesis pathway. Conclusions and Relevance: These data broaden the phenotype associated with SPTLC1 and suggest that patients presenting with juvenile ALS should be screened for variants in this gene.
