Challenging Physiotherapy for Children with Ataxia Telangiectasia

The aim of this article is to provide insight in the challenges for physiotherapists in assessment and treatment of the rare, degenerative and grave neurological disease Ataxia Telangiectasia (AT). Nevertheless, the physiotherapeutic frame proposed here can be of value also for other clients, especially those with serious diseases. AT characterizes by cerebellar degeneration with ataxia, telangiectasies, immunodeficiency, increased cancer risk and life expectancy of 20-25 years. It is challenging to be a physiotherapist, working with children with AT. They have to consider the development of the disorder in stages. In the preschool stage (age 0-6), there is still a development and learning of new skills. In the school age (age 6-12) starts the deterioration and loss of function. The child needs to use a wheelchair. In the teenager stage (age 12 and older), the motor function stabilises and new challenges evolve including respiration and nutrition. The goal for training must be adjusted to the priorities in the childs and familys total situation, their wishes and needs. It is a challenge for physiotherapists to find adequate assessment tools that will measure the childrens function and at the same time consider their needs for coping.