Description

Achondroplasia is associated with many complications throughout the life course. Effective management of some aspects during childhood can improve quality of life in adulthood. This study suggests that treatment strategies for children with achondroplasia should target a final height of at least 140 cm, since this has an effect on physical function.

People with achondroplasia suffer from various orthopaedic, neurological, respiratory, ear-nose-and-throat, and dental issues over time, which require periodic medical follow-up throughout their lifetime. A multidisciplinary approach is required not only for physical but also psychosocial problems, and to maintain sufficient quality of life for the affected individual and their family. To evaluate the feasibility of novel therapeutics, it is necessary to recognise the current status of this specific disease.

This review gives an overview of the known medical complications in people with achondroplasia, and reports current multidisciplinary interventions at key life stages. The authors also evaluated the health-related quality of life of 175 adolescent and adult patients using Short Form-36. Their results suggest that the people with an adult height of at least 140 cm showed significantly higher physical function scores than those in the shorter group (p<0.001). There was also an impact on mental and social component scores, although these did not show statistical significance. Furthermore, those with a history of spine surgery had significantly decreased physical function (p<0.001).

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