Optimising care and follow-up of adults with achondroplasia.

ABSTRACT:

Background

Achondroplasia is a genetic condition that can cause complications across the lifespan. While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and little is known about the care they receive or how they access it. The European Achondroplasia Forum undertook two exploratory surveys, one for healthcare professionals (HCPs) and one for patient advocacy group (PAG) representatives, to gain an understanding of current practices of the transition process of individuals with achondroplasia from paediatric to adult services and how adults perceive their care.

Results

Most HCP respondents followed up more children than adults, and 8/15 responded that individuals did not transition

SUBMITTER: Fredwall S 

PROVIDER: S-EPMC9392284 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature