Clinical and genetic features of a large homogeneous cohort of oculopharyngeal muscular dystrophy patients from the Canary Islands.

BACKGROUND: Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset myopathy characterized by ptosis, dysphagia, and progressive proximal limb muscle weakness. The disease is produced by a short expansion of the (GCN)n triplet in the PABPN1 gene. The size of expansion has been correlated to the disease onset and severity. We report the clinical features of a large cohort of OPMD patients harboring the (GCN)15 allele from the Canary Islands. METHODS: A retrospective observational study was performed analyzing the clinical, demographic, and genetic data of 123 OPMD patients. Clinical data from this cohort were compared with clinical data collected in a large European study including 139 OPMD patients. RESULTS: A total of 113 patients (94.2%) carried the (GCN)15 expanded PABN1 allele. Age of symptoms' onset was 45.1 years. The most frequent symptom at onset was ptosis (85.2%) followed by dysphagia (12%). The severity of the disease was milder in the Canary cohort compared to European patients as limb weakness (35.1% vs. 50.4%), the proportion of patients that require assistance for walking or use a wheelchair (9.3% vs. 27.4%), and needed of surgery because of severe dysphagia (4.6% vs. 22.8%) was higher in the European cohort. CONCLUSIONS: Nearly 95% of patients with OPMD from the Canary Islands harbored the (GCN)15 expanded allele supporting a potential founder effect. Disease progression seemed to be milder in the (GCN)15 OPMD Canary cohort than in other cohorts with shorter expansions suggesting that other factors, apart from the expansion size, could be involved in the progression of the disease.

Social and economic costs and health-related quality of life in stroke survivors in the Canary Islands, Spain.

BACKGROUND: Cost-of-illness analysis is the main method of providing an overall vision of the economic impact of a disease. Such studies have been used to set priorities for healthcare policies and inform resource allocation. The aim of this study was to determine the economic burden and health-related quality of life (HRQOL) in the first, second and third years after surviving a stroke in the Canary Islands, Spain. METHODS: Cross-sectional, retrospective study of 448 patients with stroke based on ICD 9 discharge codes, who received outpatient care at five hospitals. The study was approved by the Research Ethics Committee of Nuestra Señora de la Candelaria University Hospital. Data on demographic characteristics, health resource utilization, informal care, labor productivity losses and HRQOL were collected from the hospital admissions databases and questionnaires completed by stroke patients or their caregivers. Labor productivity losses were calculated from physical units and converted into monetary units with a human capital-based method. HRQOL was measured with the EuroQol EQ-5D questionnaire. Healthcare costs, productivity losses and informal care costs were analyzed with log-normal, probit and ordered probit multivariate models. RESULTS: The average cost for each stroke survivor was €17 618 in the first, €14 453 in the second and €12 924 in the third year after the stroke; the reference year for unit prices was 2004. The largest expenditures in the first year were informal care and hospitalizations; in the second and third years the main costs were for informal care, productivity losses and medication. Mean EQ-5D index scores for stroke survivors were 0.50 for the first, 0.47 for the second and 0.46 for the third year, and mean EQ-5D visual analog scale scores were 56, 52 and 55, respectively. CONCLUSIONS: The main strengths of this study lie in our bottom-up-approach to costing, and in the evaluation of stroke survivors from a broad perspective (societal costs) in the first, second and third years after surviving the stroke. This type of analysis is rare in the Spanish context. We conclude that stroke incurs considerable societal costs among survivors to three years and there is substantial deterioration in HRQOL.

Effectiveness and safety of treatments for degenerative ataxias: a systematic review.

The aim of this study was to determine the effectiveness and safety of available treatment alternatives for degenerative ataxias (DA). We systematically reviewed studies that assess pharmacological, rehabilitative, or psychological treatments in patients with DA. Studies were included if they fulfilled prespecified criteria. All included clinical trials were scored for methodological quality. Main outcome measures were clinical status of neurological disorder, adverse events, and patient-based factors. Twenty-five studies were included. Most studies were of small sample sizes, wide age variations, and low scientific validity. Only one study gave information on physical rehabilitation and none on psychological therapy. The remaining 24 studies reported on the effects of different pharmacological treatments. Outcomes such as functional capacity and psychological functioning of patients were evaluated by few studies. Some evidence supports that 5-hydroxytryptophan is more effective than placebo improving neurological symptoms in patients with Friedreich ataxia (FA), olivopontocerebellar atrophy, or cerebellar atrophy. Idebenone is more effective than placebo for halting and reversing the hypertrophic cardiomyopathy associated with FA, but it seems unable to improve neurological semiology. Limited evidence for other therapies was found. No relevant side effects for drugs that shown some degree of effectiveness were reported. Availability of quality studies to evaluate the safety and efficacy of treatments for most DA is scarce. No valid information on the actual value of physical rehabilitation and psychological support as treatments for DA is available. Further investigations with improved trial designs are necessary.

Social economic costs and health-related quality of life in patients with amyotrophic lateral sclerosis in Spain.

Amyotrophic lateral sclerosis (ALS) is a process that leads to the functional disability of the individual in a relatively short period of time, with a very important limitation of autonomy and affecting the quality of life. We wished to determine the economic burden (direct and indirect costs), as well as health-related quality of life (HRQoL) in patients with ALS in Spain. A cross-sectional study was carried out on 63 patients with ALS during 2004. A retrospective assessment of the use of resources was obtained through questionnaires completed by the patients and/or the patients' caregivers. The approach used was a cost-of-illness study based on a societal perspective. We assessed the HRQoL with the EQ-5D. Mean annual cost per patient with ALS was euro36,194. The most important categories of costs were informal care, early retirement, medications, and orthopaedic devices. The mean EQ-5D index score was 0.18 and the mean EQ-5D VAS score was 29. Considerations of the costs related to caregiving to cope with the patients' disabilities, as well as the high indirect costs resulting from early retirement in patients with ALS, should become a priority for health authorities in Spain. The patients' HRQoL was very low and substantially influenced by the degree of severity of ALS.

Social economic costs and health-related quality of life in patients with degenerative cerebellar ataxia in Spain.

To determine the economic burden (direct and indirect costs), as well as health-related quality of life (HRQOL) in patients diagnosed with spinocerebellar ataxia (SCA) in Spain. A cross-sectional study was carried out on 84 patients with SCA from the Spanish Ataxia Federation (FEDAES) during 2004. A retrospective assessment of the use of resources was obtained through questionnaires filled out by the patients or the patient's caregivers. The approach used was the cost-of-illness study based on a societal perspective. To assess HRQOL in patients with SCA, they were asked to fill out the EQ-5D generic questionnaire. The mean annual cost per patient with SCA was 18,776 euros. The most important categories of costs were informal care, early retirement (permanent disability), medications, and orthopaedic devises. The mean EQ-5D index score was 0.48 (0.38 for high and 0.58 for low severity patients) and the mean EQ-5D VAS score was 48 (43 for high and 52 for low severity patients). Considerations of the costs related to caregivers due to the patients' disabilities, as well as the high indirect costs resulting from permanent disabilities in patients with SCA, should become a priority for health authorities. Furthermore, the patients' quality of life, as determined by the EQ-5D questionnaire, was very low and substantially influenced by the degree of severity of SCA.