Medical complications in Australian children with achondroplasia

This thesis builds on the currently available literature on medical complications in achondroplasia, the most common skeletal dysplasia causing short stature in humans. Studies have reported the rates of medical investigations, complications, interventions, and service utilisation in achondroplasia. Limitations have been uncertain diagnosis, clarity of follow up, variable quality medical records, and reliance on self-reports therefore recall. Management of medical complications has evolved over time in line with American Academy of Pediatrics Guidelines, and there is a need for contemporary accounts of medical complications. Pharmaceutical therapies for achondroplasia are emerging, and this natural history data will assist in the evaluation of these. 

A retrospective cohort study of 108 participants was undertaken to address identified gaps in the literature. Rates of craniocervical stenosis, hydrocephalus, hearing impairment, sleep disordered breathing, lower limb malalignment, thoracolumbar kyphosis, symptomatic spinal stenosis, obesity, respiratory illness, and death were recorded. There was variability in the rates of complications in this cohort, compared with previous reports related to differences in population demographics, local practices, and changes in management over time. 

Recommendations for improving clinical practice include improved record keeping, incorporating new evidence into practice, improving the clinical management of some conditions, and improving data collection for rare and less studied complications. Recommendations for future research include the standardisation of prospective data collection across multiple sites, evaluation of medical complications in children treated with pharmaceutical therapists, and to better understand phenotypical differences in achondroplasia.