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Preferisco vivere, grazie: il caso di Paoletto
Record number: 262
Last update: May 2013
Type of document: Thesis
Last update: May 2013
Type of document: Thesis
Author: Robol E
Editorial data: Tesi Corso di Perfezionamento "Tecnologie per l'Autonomia". Università Cattolica e Fondazione Don Gnocchi, a.a. 2007-2008
Year of publication: 2008
Abstract:
(text automatically translated from Italian) Paoletto has now 14 years old and from birth is suffering from Menkes disease, a rare genetic disease and rapidly progressive. The genetic alteration results in a deficiency of intestinal absorption and intracellular transport of copper (coenzyme essential to man, especially during growth and neuromotor development) that is expressed in significant damage to the neurological level, muscolosheletrico and visceral. The clinical presentation is usually early (2-3 months) and the poor prognosis usually within the first few years of life. Taking charge by our Rehabilitation Service was early (first few months of life), an integrated approach (neuromotor and speech therapy). Paoletto and family were gradually accompanied during the different stages of growth and alternating phases of the disease, tackling together from time to time problems, goals, disappointments and achievements. The areas of intervention focused on mobility, internal and external housing (including accessibility to the garden), accessibility to transportation, personal care, posture, computer accessibility and writing, interpersonal communication and the 'integration of assistive technology in educational programs. The objectives of this work were to facilitate Paoletto in his necessities of everyday life (at the same time alleviating the tasks of the caregiver) and to allow insertion and a more active participation in social life can be at school, at home and in communities. Currently Paoletto weighs 15 kg, is not able to reach the upright, needs complete assistance for activities of daily living, a heavy brace tailored during the sitting posture (due to a severe neuromotor progressive scoliosis complicated by multiple vertebral collapse) and assisted ventilation at night (for sleep apnea syndrome with respiratory failure).
(text automatically translated from Italian) Paoletto has now 14 years old and from birth is suffering from Menkes disease, a rare genetic disease and rapidly progressive. The genetic alteration results in a deficiency of intestinal absorption and intracellular transport of copper (coenzyme essential to man, especially during growth and neuromotor development) that is expressed in significant damage to the neurological level, muscolosheletrico and visceral. The clinical presentation is usually early (2-3 months) and the poor prognosis usually within the first few years of life. Taking charge by our Rehabilitation Service was early (first few months of life), an integrated approach (neuromotor and speech therapy). Paoletto and family were gradually accompanied during the different stages of growth and alternating phases of the disease, tackling together from time to time problems, goals, disappointments and achievements. The areas of intervention focused on mobility, internal and external housing (including accessibility to the garden), accessibility to transportation, personal care, posture, computer accessibility and writing, interpersonal communication and the 'integration of assistive technology in educational programs. The objectives of this work were to facilitate Paoletto in his necessities of everyday life (at the same time alleviating the tasks of the caregiver) and to allow insertion and a more active participation in social life can be at school, at home and in communities. Currently Paoletto weighs 15 kg, is not able to reach the upright, needs complete assistance for activities of daily living, a heavy brace tailored during the sitting posture (due to a severe neuromotor progressive scoliosis complicated by multiple vertebral collapse) and assisted ventilation at night (for sleep apnea syndrome with respiratory failure).
Downladable documents:
- Tesi Robol Elisa - Corso Perfezionamento "Tecnologie per l'Autonomia" aa 2007/2008 File format: pdf (179 KB)
- Presentazione tesi Robol Elisa - Corso Perfezionamento "Tecnologie per l'Autonomia" aa 2007/2008 File format: pdf (823 KB)
