The IAF has developed several manuscripts through the combined expertise of our international Steering Committee and members, including guiding principles for care, practical considerations in the management of adults and the measurement of outcomes in clinical practice. Our work reflects a collaborative, multidisciplinary approach and is intended to promote consistency of care, improve patient outcomes, and encourage global best practice.
The EAF undertook exploratory surveys to improve our understanding of the care that adults with achondroplasia receive, and the period of transition from paediatric to adult care. Some key barriers to optimal care emerged; identifying and overcoming these is crucial to improving the care of adults.
The EAF reviewed the timepoint of diagnosis and referral of achondroplasia in six European centres. There is often a delay in referral to a specialist centre, so the EAF developed some best practice recommendations to ensure accurate diagnosis and timely referral to a clinician or multidisciplinary specialist in achondroplasia to enable optimum management.
