One of the consequences of genetic impairments in early childhood is their long-term effect on children's developmental skills in communication, learning, and adaptive behaviors. Functional assessment provides families and clinicians with a common language for describing a child's strengths and limi
Functional health status of adults with achondroplasia
โ Scribed by Mahomed, Nizar N.; Spellmann, Mark; Goldberg, Michael J.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 63 KB
- Volume
- 78
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980616)78:1<30::aid-ajmg7>3.0.co;2-p
No coin nor oath required. For personal study only.
โฆ Synopsis
Little is known regarding the functional health status of individuals with achondroplasia. This cross-sectional survey of adults with achondroplasia was undertaken to assess the functional health status of this population and its determinants. The study sample consisted of members of the Little People of America (LPA) who completed a mailed questionnaire consisting of a demographics component, a general and disease-specific comorbidities component, and the Short Form 36 (SF-36) health status questionnaire. Univariate analyses and multivariate linear regression models were used for data analysis. Four hundred thirty-seven individuals with a mean age of 38 years completed the survey. The age- and gender-adjusted Mental Component Summary (MCS) scores did not significantly differ from those of the general population. In contrast, the age- and gender-adjusted Physical Component Summary (PCS) scores were significantly lower than the general population starting in the fourth decade of life. Musculoskeletal diseases were most prevalent and had the greatest impact on the PCS scores. Two-thirds of this cohort had undergone at least one operation. Only musculoskeletal procedures were significantly associated with PCS and MCS scores. The functional health status of adults with achondroplasia, as measured by the SF-36, is not drastically reduced in comparison with that of the general U.S. population.
๐ SIMILAR VOLUMES
Because of gonadal mosaicism, the risk of recurrence of achondroplasia in the sibs of achondroplastic children with unaffected parents is presumably higher than twice the mutation rate, but it has not been measured.
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