Description

Children with achondroplasia have a high burden of medical complications and interventions, and a mortality rate of 2%. This retrospective study reports contemporary rates of medical complications in an Australian population of children and gives recommendations for surveillance in clinical practice.

A retrospective chart review was performed in 108 children and adolescents with achondroplasia seen at one skeletal dysplasia clinic in Australia. The aim was to determine rates of medical investigations, complications, interventions, and outcomes in children with achondroplasia. Overall, craniofacial, orthopaedic, and ear-nose-and-throat investigations were performed in 16–92% of participants. Most investigations and complications occurred before the age of 4 years, with orthopaedic complications and obesity occurring in later childhood and adolescence. Recommendations were given around the development of a consistent scoring system for the severity of thoracolumbar kyphosis on X-ray, and the need for more targeted interventions for obesity. The authors also noted that the reasons for cessation of non-invasive ventilation were not consistently reported and suggested that understanding factors affecting adherence would be helpful to guide future strategies. Finally, it was recommended that hearing should be tested annually, with a centralised approach to recording test results and outcomes of interventions.

This information will help guide clinicians with their expectant management of achondroplasia and provide prognostic information to the families of affected children.

Access via PubMed

EU-ACH-00537