Friedreich's ataxia is a neurological disease, progressive, rare, of genetic origin often starting in adolescence, sometimes from childhood or adulthood and affecting 1 in 50 000 people, which represents in France approximately 1,500 people.
Progressive and variable evolution from one person to another, ataxia leads to incoordination of voluntary movements in time and space by attacking the cerebellum and pathways of deep sensitivity. Progressive disturbances of the equilibrium and the coordination of the movements appear and involve a clumsiness of the gestures, a degradation of the writing, difficulty of the speech (speech) and progress more and more difficult. The young patients of Friedreich's ataxia retain all their mental and intellectual faculties, but their growing handicap is the entire social and educational life that is in pain. The lack of fine motor skills (especially for writing), speech difficulties, vision, hearing are all obstacles to education and schooling.
New technologies and communication aids are crucial for developing the potential and autonomy of people with disabilities. Although many, they do not always meet the needs that remain specific and evolving.
- Establish a pilot working group of AF people. - List existing solutions. - Test the identified solutions with the pilot working group. - Identify the specific and relevant tools in Friedreich's Ataxia. - Provide personalized tools as well as information and practice sheets for the use of solutions.
- Perform a questionnaire/test to identify progress points on aspects of communication. - Estimate the benefits provided by the tools put in place by carrying out a test/filling of the questionnaire. - Evaluate by people the benefits and difficulties related to the use of communication tools.
- Mutualize human and material resources with the C-RNT: occupational therapist trained in these technologies and equipment park. - Analyze the requests of the people concerned. - Diagnose specific needs in terms of various communication difficulties. - Write cards identifying the specific needs of each. - Define the appropriate support methodologies. - recommend the most appropriate solution or solutions. - Test and compare the solutions with the person in a real situation. - Adapt and/or develop new technologies resources that can meet identified needs if necessary. - Partnership with occupational therapists close to the AF person and training if necessary.
- Acquire a sufficient fleet of equipment (2 investment phases). - Define the conditions and the logistical organization of the equipment loan.
- Analyze and communicate the results of this project. - To identify a global methodology of accompaniment for people with communication difficulties. - Identify the most relevant solutions to meet the needs of communication aids. - Adapt the results and observations of this project to other nearby pathologies. - Link and strengthen partnerships.
Establish a database of ICT products that can meet the needs of AF people in the field of communication.
Offer a support service and individualized advice on the choice and use of these solutions.
Expand the results of this project and the support service to a larger number of patients and then transfer them to patients with rare diseases nearby.
Technological innovations and inclusion of children with Friedreich's Ataxia
2018 - 2019
at least 25 children and young adults with Friedreich's ataxia
The French Ataxia Friedreich Association (AFAF)
APF Lab - Le Hub
The Princess Grace Foundation (FPG)
Develop and/or maintain the autonomy and quality of communication for people with Friedreich ataxia, despite increasing difficulties, through the use of new technologies.
Research and implement communication aids solutions to improve the communication of people with AF.
Facilitate access to communication tools and increase the number of people who can benefit from them.