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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Health-related quality of life of patients with genetic skeletal dysplasias.

While medical knowledge on genetic skeletal dysplasias has expanded, very little is known about the patients' health-related quality of life (HRQOL). To test the validity and sensitivity of the fifteen and sixteen dimensional measures of HRQOL in patients with chondrodysplasias, we examined 121 adults aged 16-54 and 19 adolescents aged 12-15 with achondroplasia, cartilage-hair hypoplasia and diastrophic dysplasia. The age and sex standardized overall HRQOL score of the adult patients (0.885 on a scale from 0 to 1) was significantly lower than that of normal controls (0.928) (P < 0.001). The difference in the HRQOL between the patients and the controls consisted mainly of the differences in dimensions of mobility, usual activities, sexual activity and discomfort, for which the patients reported a significantly lower status (more problems) than the controls (P < 0.001). Adolescent patients demonstrated HRQOL profiles similar to those of adults. However, age-specific problems occurred on the dimensions of school and hobbies, friends and physical appearance (P < 0.05). In a detailed examination of different patient groups, some clinically unexpected findings were observed, suggesting that denial is at least in part involved. CONCLUSION: Subjective assessment of HRQOL of patients with chondrodysplasias is valuable for provision of optimal care. In treatment and management special attention should be paid to those dimensions on which the patients' perceived status is currently suboptimal, especially during adolescence which probably is the most critical period in the lives of these individuals.[1]


  1. Health-related quality of life of patients with genetic skeletal dysplasias. Apajasalo, M., Sintonen, H., Rautonen, J., Kaitila, I. Eur. J. Pediatr. (1998) [Pubmed]
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