Reference:
3_Dr. Vignoli, Dr. La Briola
Abstract:
Knowledge in the medical field of psycho-physical condition of people with Rett syndrome in adulthood is still very poor. A good knowledge of medical issues, typical of adulthood in these girls and the possibility of preventing them, are key to the “loading” of patients and their families. Objectives The purpose of this study is to understand and describe the general state of health, on the physical, behavioral and psychological women with Rett syndrome aged 14 years, there also aims to clarify which conditions are age-related and put to fire any weaknesses psycho-physical in Rett syndrome in adulthood. This research is of great importance because in the literature there is still very little information on the clinical characteristics and evolution of syndromic picture of Rett syndrome in adulthood. Acquire new and more detailed knowledge in this area will subsequently spin-off benefits in the field of welfare, because it will allow clinicians to improve and finalize more efforts, under the care and prevention of complications. The information obtained will allow to formulate a treatment protocol with periodic checks effectively acts to follow long-term women with Rett syndrome, optimizing the controls according to the real needs of patients. It ‘also important to obtain information related to mobility and access to services to assess how and why the patients with Rett syndrome are turning to health care, both ambulatory and hospital care, and this can bring out the issues that parents could learn to manage at home, or highlight the need for more facilities and services dedicated to this disease. Another goal will be to correlate clinical data with genetic (genotype-phenotype).
PROJECT DETAILS
beginning: 2008.
end: 2010.
Country of research: Italy
Counry of funding source: Italy
Funding organization: AIRETT
Financing: PRIVATE FUNDERS – 50 000 €