The families of children with muscular dystrophies: burden, social network and professional support

Muscular Dystrophies (MD) are degenerative pathologies implying progressive disabilities, and having a high impact on the patients and their relatives quality of life. Although only palliative therapies are available, the improvement of treatments quality and diagnostic instruments has led to an increase of patients life expectancy and, consequently, of lenght of family caregiving. As frequently reported in the literature, family involvement facilitates patient's adaptation to long-term illness, improves his/her participation in the therapeutic programme, and has a positive effect on patient's clinical response to treatments. However, long-term involvement in patients assistance may be also very demanding for the relatives. Difficulties experienced by patient's relatives as a consequence of their caregiving role are commonly named as objective and subjective family burden. The former refers to practical problems, such as disruption of family relationships, constraints in social, leisure and work activities, and financial difficulties; the latter describes the psychological reactions which family members experience. Studies of family burden have outlined the protective effect social network and professional support on relatives’ burden of care. While family burden has been extensively explored in mental disorders, such as schizophrenia, and physical illnesses, such as cancers and dementias, only few data are currently available of family burden in neuromuscular dystrophies. In adition data on psychological consequences of healthy siblinks of MD patients are virtually absent. The lack of these data makes it more difficult the allocation of professional and economic health resources to support patient's caregivers, and it limits the development of targeted interventions to support the families of patients with MD. The proposed study aims to provide data on the burden, the social network and the professional support in a random sample of 800 key-relatives of 9-17 years old patients with MD in charge to 8 Centres. The allocation of the centres in different areas (Northern, Central and Southern Italy), and the use of well-validated tools will make these data representative of the situation of the families of MD patients in Italy and will facilitate the replication of the study in other context.