Quelle prise en charge pour les patients avec mucoviscidose et troubles du spectre autistique. Description de cas et revue de la littérature.
Cystic fibrosis (CF) is a genetic condition resulting in a multisystemic chronic disease. Advances in therapeutics and care combined with neonatal screening have led to a progressive increase in survival and improvement in quality of life. Nevertheless, chronic treatments, including daily medications and physiotherapy sessions, regular medical encounters with multidisciplinary teams, and recurrent paraclinical tests necessary to follow the evolution of disease can be cumbersome, while also disrupting daily life. These interferences can be even more pronounced in patients with specific needs such as autistic spectrum disorders (ASD).
When a child has both CF and ASD, not only the families have to cope with two life changing diagnostics but also the health care team has to adapt its communication skills and revise the applicability of standards of care. Likewise, many physical interventions such as nebulizations, chest physiotherapy or pulmonary function testing can be challenging if not impossible, thus potentially changing the outcome of CF. Furthermore, bridging guidelines to help families and professionals deal with these two diseases are few if not lacking.
We will describe cases of young patients with CF and ASD followed in 3 different centers (CHUV Lausanne, CHU Sainte-Justine Montreal-Canada, CHU Toulouse-France) focusing especially on the impact of this developmental disorder on the care of a chronic non curable disease, including the potential disruption on recommendations for standard of care. We would also like to propose thoughts and leads on the adaptations that might be necessary in a CF center to optimize care of such patients, including specific awareness and training of the health professionals.