Assessment of the quality of life in patients with LGMD. The case of transportinopathy.

The Quality of Life (QOL) is influenced by several disease-related factors, support, resources, expectations, and aspirations, within the disease-related concepts. The Individualized Neuromuscular Quality of Life (INQoL) is a validated muscle disease-specific measure of the QoL developed from the experiences of patients with muscle disease and can be used for people or large cohorts. This review of QoL in transportinopathy cases reports adjustments in an autosomal dominant (AD) LGMD, and a comparison is made with autosomal recessive (AR) LGMD evaluated by INQoL. The locus for this form of LGMD with AD inheritance was found on chromosome 7, and then identification of the gene and its encoded protein (transportin-3) was obtained in 2013. A large three-generation family with several branches in Spain and Italy was previously reported and described in detail. Some patients had an early onset weakness, but others had an adult onset of the disease, as late as 58 years. The severity of the appearance of the phenotype is correlated with QoL and progresses with age. Assessing the impact on their QoL is particularly relevant to know whether the treatment is reducing their suffering.

The Role of Associations in Reducing the Emotional and Financial Impact on Parents Caring for Children with Duchenne Muscular Dystrophy: A Cross-Cultural Study.

Caregivers' emotions and finances are affected by the deterioration of functional capacity of patients with Duchenne muscular dystrophy (DMD), both in Mexico and Spain. Patient associations may reduce this impact on caregivers. This study aims to study the role of two models of associations, inspired by two different cultural models, in how the services they provide can help decrease the emotional and financial impact on the caregivers of children with DMD. The sample consisted of 34 caregivers from Mexico and 40 from Spain recruited from Spanish hospitals and rare disease organizations in Spain and Mexico. The instruments used consisted of a sociodemographic and socioeconomic questionnaire, the CarerQol-7D, the PHQ-15, the Zarit Caregiver's Burden Scale and the SWLS. The results showed that caregivers in Mexico are in better physical and psychological health than caregivers in Spain. They also receive more subsidies than those in Spain. Caregivers in Mexico have a greater well-being and are less affected by the economic impact of the disease due to the associations' day-to-day work and the fact that they generate a network of health services that they make available to the patient free of charge. These differences may also be attributable to cultural issues and to the fact that Mexico has a deeply established culture of support.

Diseases Costs and Impact of the Caring Role on Informal Carers of Children with Neuromuscular Disease.

This study aims to evaluate the costs of informal care for children with neuromuscular disease and evaluate how physical and psychological health is associated with socio-demographic variables. A cross sectional design was used with a convenience sample of 110 carers that participated in this study. Participants were recruited from Spanish hospitals and rare diseases organizations. Economic costs and sociodemographic aspects were assessed using the economic costs questionnaire and the sociodemographic questionnaire. Physical and psychological health was evaluated using the CarerQol-7D, PHQ-15, Barthel Index, Zarit Overload Scale and Satisfaction with Life Scale. Carers of children with neuromuscular disease spent a large percentage of their annual income in physical therapy, psychological care and speech therapy. Informal costs differed according to the degree of dependency of the child. These were higher in those caregivers whose child under their care presented low functional independence. The loss of work productivity was related to marital status, use of professional services and the child's dependency. Finally, carers who were female, single or separated and without a job showed worse physical and psychological health. The results highlighted that carers have to face a number of high costs because of the non-existence of social protection and due to the child's diagnosis.