Table 1 The 2020 EAF guiding principles of management for achondroplasia
Item | Guiding principle | Vote (%) | Level of agreement (mean; range) |
|---|---|---|---|
A | Achondroplasia is a lifelong condition requiring lifelong management by an experienced MDT, led by physicians/clinicians experienced in achondroplasia management. Close monitoring during the first two years of life is critical | 92 | 8.9 (8–10) |
B | When a diagnosis of achondroplasia is made or suspected, either in utero or after birth, the family should be referred as soon as possible to a physician experienced in achondroplasia to discuss the prognosis and management of the condition | 100 | 9.3 (8–10) |
C | Decisions around management should be made in the MDT setting jointly with the person with achondroplasia and/or their family | 100 | 9.6 (7–10) |
D | The primary goals of management are to enable anticipation, identification and treatment of problems, provide education and support to encourage a healthy lifestyle, positive self-esteem and mental health, autonomy and independence | 100 | 9.2 (8–10) |
E | Patients should have access to a variety of adaptive measures, support to ensure proper usage and access to approved treatment options as they become available | 91 | 8.5 (5–10) |
F | Regular monitoring in adolescence and adulthood should continue under an MDT with expertise in achondroplasia management. Care should include genetic counselling, transition to adulthood, psychosexual well-being and management of pregnancy | 100 | 9.3 (8–10) |