RESUMEN
BACKGROUND: Leber hereditary optic neuropathy (LHON) is an inherited mitochondrial disease characterized by severe bilateral vision loss and chronic visual impairment. The objective of this study was to comprehensively explore the impact of LHON on the lives of patients and their relatives at the time of diagnosis and now. METHODS: Qualitative study design with 8 focus group interviews conducted in France, Germany, the United Kingdom, and the United States, involving 17 individuals with m.11778G>A mutation and their relatives. Separate focus groups for patients and their relatives were facilitated by a moderator in French, German, or English. Qualitative analysis of interviews using a pre-defined analytical framework. RESULTS: Participants reported feeling devastated by the diagnosis of LHON after a lengthy and worrisome diagnostic journey. Patients were frustrated by the loss of autonomy, which also affected their relatives. Participants described challenges across several domains: physical capabilities, emotional well-being, interpersonal relationships, work and studies, finances, and recreational activities. Access to disability allowances, vision aids, and funded or subsided idebenone varied by country, resulting in unequal financial impact. Patients are hopeful for therapy that would restore autonomy and improve their ability to enjoy a fulfilling life, while alleviating the demands placed on their relatives. CONCLUSIONS: The impact of LHON extends beyond vision-related activity limitations. Addressing the psychosocial impact of LHON and helping patients and their relatives adapt and cope with vision loss are vital. As part of this, an accurate and timely diagnosis is important to enable early intervention. Further investigation of specific unmet needs is required.
Asunto(s)
Enfermedades Mitocondriales , Atrofia Óptica Hereditaria de Leber , ADN Mitocondrial/genética , Humanos , Mitocondrias/genética , Mutación , Atrofia Óptica Hereditaria de Leber/diagnóstico , Atrofia Óptica Hereditaria de Leber/genética , Calidad de Vida , Trastornos de la VisiónRESUMEN
The launch of eszopiclone by Sepracor Inc in April 2005 in the US has marked the long-anticipated advent of a new generation of hypnotics that promise safer treatment for chronic insomnia. Over the coming years more compounds are expected to be launched, offering improved daytime well being and fewer side effects compared with their predecessors that were launched in the early 1990s. This article examines the factors that will drive the uptake of the new insomnia drugs by the public, describes potential barriers to adoption of these drugs and provides ideas for future treatment approaches that may offer better targeting and management of possible underlying conditions rather than merely controlling a symptom.