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. 2021 Mar;185(3):695-701.
doi: 10.1002/ajmg.a.62018. Epub 2020 Dec 24.

Quality of life in adults with achondroplasia in the United States

Elizabeth A Yonko  1 , Jillian S Emanuel  1 , Erin M Carter  1 , Cathleen L Raggio  1
Affiliations

Quality of life in adults with achondroplasia in the United States

Elizabeth A Yonko et al. Am J Med Genet A. 2021 Mar.

Abstract

Studies examining quality of life (QoL) in adults with achondroplasia are limited. We report on QoL and psychiatric illness diagnoses in a modern cohort of adults with achondroplasia. SF-36 Health Survey scores from adults with achondroplasia were compared to general population scores. Demographics, physical measurements, and psychiatric illness diagnoses were recorded from medical records. The achondroplasia population had lower scores than the general population in all categories. Most people with achondroplasia (56%) had a diagnosed psychiatric illness. Those with a diagnosed psychiatric illness had lower scores in physical functioning, role limitations due to physical and emotional health, and mental health. Pain, energy/fatigue, and general health scale scores were roughly equivalent (<2 points difference). Social functioning was >15 points higher in individuals with psychiatric illness diagnoses. Adults with achondroplasia report significantly lower physical and mental well-being and had nearly 3× the rate of psychiatric illness diagnosis than the general population, highlighting the importance of total care for this population. Healthcare providers must understand the physical and mental comorbidities of achondroplasia, beyond short stature and orthopedic issues, so they can proactively improve QoL across the lifespan for patients and families.

Keywords: achondroplasia; mental health; psychiatric illness; quality of life.

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