Patient engagement in the design of clinical research in Noonan syndrome spectrum disorders: a scoping review

Background: Noonan syndrome spectrum disorders are a group of disorders caused by mutations in several genes of the RAS/MAPK pathway. Because of a highly heterogeneity and variable phenotypical manifestations of the disorders, these children and adults have a variable number of symptoms. Inclusion of their perceived experience of their health and developmental problems in research (design) could contribute to increased relevance of the research process and outcomes. The aim of this study is to get insight in what way patients with a Noonan syndrome spectrum disorder have been involved in the research process in order to learn for future engagement practices. Methods and results: To that end, the degree of engagement was measured by the eight levels of the participation ladder of Arnstein. Using a scoping review approach, 18 articles were selected in which patient engagement in the design of studies in patients with Noonan syndrome spectrum disorders was described over the past twenty years. Six of these articles reported engagement on the level of informing (level 3), 8 on the level of consultation (level 4), 2 on the level of placation (level 5)and 2 on the level of partnership (level 6). Conclusions: The current results do show a positive albeit still modest development of patient engagement over the last few years. A promising way to stimulate engagement is aiming to yield insights in the most important patients’ needs by developing a patient guided research agenda. However, this is not automatically followed by patient engagement at higher levels of participation in subsequent research steps. For this reason, in the Netherlands for example, a Dutch Noonan syndrome spectrum disorders research agenda is being developed, in a collaboration between the Dutch Noonan Syndrome Foundation and national scientific and clinical professionals.