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Robol E
Paoletto, 14 years old. Autonomy in daily life for a person with Menkes disease
Editorial data: Portale SIVA FondazioneDon Carlo Gnocchi
Abstract: Paoletto today is 14 years old and from his birth is affected by Menkes disease, a rare genetic disease and rapidly progressive. The genetic alteration results in a lack of intestinal absorption and intracellular transport of copper (coenzyme essential to man, especially during the growth and neuromotor development) that leads to a serious damage at neurological, visceral and musculoskeletal levels. Our rehabilitation services started during his first month of life, adopting an integrated approach (neuromotor and speech therapy). The areas of intervention have focused on internal and external mobility (including access to the garden), accessibility to transportation, personal care, posture, e-accessibility and writing, interpersonal communication, integrations of AT within the educational pathways.
Year of publication: 2008
Type of document: Case studies/experiences
Last update: July 2011
Info updated 16/05/2024 | Fondazione Don Carlo Gnocchi Onlus - P.IVA 12520870150 | E-mail: portale@siva.it