Background: Patients with autism spectrum disorders (ASD) present a wide range of social
and sensorial atypicalities, which represent limitations to the optimal care of co-existing
health conditions. Cystic fibrosis (CF) is a multisystemic chronic disease requiring a life-long,
cumbersome therapy. When a child has both CF and ASD, not only the parents have to cope
with two life-changing diagnostics but also the medical team has to revise the applicability of
therapeutic standards. To this day, there has been few research about this problematic and
there are no recommendations for the care of this rare and vulnerable population of patients.
Aims: Firstly, to highlight recurrent limitations to CF treatment in children with ASD through
literature review and the description of four clinical situations. Secondly, to propose leads to
help health providers optimize the care of these patients.
Methods: We performed a literature review on PubMed using MESH and free terms as “cystic
fibrosis”, “autism spectrum disorder”, “chronic disease”, and/or “neurodevelopmental
disorder” between 2021 and 2022. We then described the clinical follow-up of four paediatric
patients diagnosed with CF and ASD. We used medical records for patients 1 and 2 followed
at the CHUV Lausanne, and information given by the parents per email for patients 3 and 4
followed at the CHU Sainte-Justine-Montreal-Canada. We conducted one-hour semi-
structured interviews with the mothers of these patients, following a previously established
questionnaire about challenges and facilitators.
Findings: All four patients encountered difficulties in their CF trajectory, regarding daily
medication, physiotherapy, diet, physical examinations, outpatient consultations and/or
hospitalizations. The medical team could not strictly respect the standards of care for CF and
had to implement individual solutions in collaboration with the families. Investigating the
child’s sensory profile, communicating in a concise, visual way and offering predictability are
core principles that should represent a basis of standard care in these complex situations.
Conclusion: Due to their sensorial and communicational issues, paediatric patients with ASD
face recurrent obstacles in the management of CF. There is a need for standardized health
protocols based on communication supports, environment adaptation needs, and on the
child’s individual specificities to improve adherence and tolerance of chronic illness
treatment.