Physician coordinator: Pr Nadia BAHI BUISSON, neuropediatrician
Health Care Coordinator: Elisabeth CELESTIN
Due to their multiple disability status, most families lack landmarks to identify professionals and have difficulties to organise path of care, which is often complicated and full of obstacles. The Rett Centre is there to accompany them.
1st mission: Care
Strengthen the efficiency and responsiveness of care and reduce the number and timing of consultations to improve the quality of life of patients and their families.
The Rett Centre coordinates medical, paramedical and medico-social support. He is attentive to families and can provide advice on everyday life. Located on the site of the hospital Necker Enfants Malades in Paris, it is connected with the hospital of the Kremlin Bicêtre, Pitié Salpêtrière and other establishments all over France. It is linked with the medical and social institutions to help with the management program for the children.
Given the big heterogeneity of the disease, Le Centre Rett ensures that each patient has an individualized care program, respecting the specific needs of each individual, and with the aim to accompany the whole family in the management of polyhandicap for an improved quality of life.
He coordinates and participates in pharmacological trials (Fluoxetine) and non-pharmacological therapeutic trials (elbow splints), and works in collaboration with fundamental research teams on Rett syndrome.
The priority axes of the Rett Centre’s care mission
- Early management
It involves setting up and evaluating a “vulnerability” assessment that must meet two main criteria: simplicity and sensitivity.
- The provision of specific care and multidisciplinary consultations
- Management of epilepsy and non-epileptic paroxysmal phenomena (stereotypies and abnormal movements)
- Prevention and management of orthopaedic complications – scoliosis, dislocation of the hips, deformations of the feet
- Prevention and management of nutritional and digestive disorders
- Management of sleep and behavioural disorders
- Prevention and management of respiratory complications
- Transition to Adulthood
With specific needs that appear in patients from puberty, in a context where parents also age, it is necessary to identify and prioritize the needs of each patient.
- Therapeutic education
Work in progress to improve daily support and anticipate complications related to the disease.
2nd mission: Research
The Rett Centre is a unique place where families can be heard to and receive expert answers on the disease, information on studies, on-going and future therapeutic trials. It participates in national, European and international databases.
3rd mission: Training
Teaching genetic diseases from child to adult is at the heart of the activities of the Rett Centre, to transmit the very specific knowledge of the disease. He participated in several university degrees.
To assist in the dissemination of recommendations, accessible to all professionals, the Rett Centre has piloted the publication of the National Treatment Protocol, available on the website of the French High Authority for Health.