The increasing relevance of genetic diseases in the context of the Health National Service and their being associated with lack of cure and severe handicap suggested a pilot project on motor and cognitive rehabilitation in Huntington's disease taken as a model of chronic degenerative genetic disease.
Huntington's disease (HD) is an autosomal dominant, neurodegenerative disorder, charcterized by three different groups of symptoms: movement disorders, psichiatric manifestations and cognitive impairment.
Moreover the hereditary aspects of the disease pose both ethical and emotional issues for patient's children who themselves may develop HD.
No systematic study on the effect of rehabilitation treatment aimed at improving patients abilities not deteriorated yet by the disease has been performed so far. Our study was aimed at evaluating the possibility of translating the scientific achievement into a model of care for HD patients aimed at improving the quality of their life.
The research project started in 1999 and involves many partners: the research group on Health Psychology of the ISTC/CNR, the INMM/CNR, the Institute of Neurology of the Policlinico A.Gemelli, the caring home "Nova Salus" of Trasacco and the HD Association of Rome (A.I.C.H-ROME). . Fifty patients with clinically and genetically confirmed diagnosis of HD have been enrolled in the study.
After three years experience we realized a multidisciplinary rehabilitation protocol including motor, cognitive, speech as well as respiratory exercises.(1).
The results of the study give the opportunity:
- to offer caregivers of these patients specific strategies of caring able to improve patients and their families quality of life;
- to educate therapists connecting them to scientific research;
- to contribute to the realization of a model of caring such as to prevent pathological side effects of the disease and to maintain psychological health.
The research was made possible by a grant from the President of C.N.R, by the contribution of A.I.C.H-ROME which provided some equipment and thanks to the willingness of the therapists.
The project is currently applying for funding in the context of the European Year of People with Disabilities 2003 campaigning for best practice with people severely handicapped and their families.
(1) "A Pilot Project on Rehabilitation in Huntington Disease: Three Years Experience in Italy", European Meeting on Psychosocial Aspects of Genetics, Strasbourg, 25-29 May 2002
P.Zinzi*, A.G. Jacopini*, R. De Grandis***,
A.Bentivoglio****P.Zappata***,G. Graziani,***, S.Maceroni*** M. Frontali**,
* ISTC, Consiglio Nazionale delle Ricerche, Rome, Italy
** INMM, Consiglio Nazionale delle Ricerche, Rome
*** Casa di Cura di Riabilitazione "Nova Salus", Trasacco (AQ), Italy
**** Policlinico "A. Gemelli", Rome
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