Recommendations for management of infants and young children with achondroplasia: Does clinical practice align?

Abstract

BACKGROUND: Achondroplasia is one of the most prevalent forms of skeletal dysplasia. Lifelong follow-up by an experienced multidisciplinary team is required, particularly during the first 2 years. In 2021, international consensus recommendations and guiding principles were published by two groups. METHODS: We undertook two exploratory surveys to investigate awareness of the recommendations for management of children with achondroplasia among healthcare professionals (HCPs) and parents. We also assessed how well clinical practice aligns with the recommendations. RESULTS: Awareness of guidance was high among HCP respondents but low among parent respondents. Clinical practice largely aligned with international guidance; however, there was not complete alignment with all recommendations with several rating "somewhat" or "not at all aligned". For infants, these included referral to skeletal dysplasia centre or an HCP with expertise in achondroplasia after diagnosis, provision to parents of early information on positioning and handling, mandatory evaluation for cervicomedullary compression at each medical evaluation, sleep study within the first year of life, and adherence to national immunisation programmes. For children aged 2-5 years, these included annual audiology assessment, encouraging parents to keep children active and learn early healthier nutritional habits, consultation with a paediatric orthopaedic spine specialist if a kyphosis has not resolved within a year, consultation with a paediatric orthopaedic surgeon in the case of progressive genu varum, discussion of limb lengthening procedures, and regular dental assessments. CONCLUSIONS: Further research is needed to understand the reasons for deviation from recommendations. Efforts to increase alignment with recommendations could include disseminating to the wider group of specialties that care for people with achondroplasia and seeking alternative approaches to current organisation of care, such as hub-and-spoke models. Raising awareness of the guidance among parents could be achieved by adapting materials for a non-HCP audience, translation and sharing through patient advocacy groups.