A new multinational study has revealed that adults living with skeletal dysplasia face significantly greater challenges related to mental health, pain, and physical functioning than the general population. The research, which included data from the UK, the US and Norway, provides one of the most comprehensive insights to date into the health-related quality of life of adults with these rare bone conditions. The findings were published in the journal Orphanet Journal of Rare Diseases.
Skeletal dysplasia refers to a group of over 700 genetic disorders affecting the growth and shape of bones and cartilage. While the condition is often associated with short stature, its effects extend far beyond height. The study analysed data from 142 adults, nearly half of whom had achondroplasia or hypochondroplasia, with the remainder diagnosed with a variety of other skeletal dysplasia types such as multiple epiphyseal dysplasia, pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
Among the key findings was a notable prevalence of mental health issues. Nearly one in four participants reported clinically significant symptoms of depression, and 13% experienced symptoms of anxiety. These rates are more than double those seen in the general population. A third of the participants had a history of psychiatric diagnosis, with depression and anxiety being the most common.
Pain was almost universal, with 99% of respondents reporting it in at least one part of the body. Lower back and leg pain were the most commonly cited. Pain intensity was found to be high on average, and 9% of participants displayed signs of pain catastrophising, a pattern of negative thought that can worsen the experience of pain. Those with skeletal dysplasia types other than achondroplasia or hypochondroplasia reported more severe symptoms across all domains, including higher pain scores and greater psychological distress.
The research also highlighted significant limitations in physical functioning. Many respondents struggled with daily activities such as walking, reaching for objects, and performing household chores. These difficulties were reflected in both the Stanford Health Assessment Questionnaire and newer health surveys like PROMIS-29, which revealed lower scores for physical and social functioning.
Quality of life scores, both physical and mental, were markedly reduced across the study group. Participants from the UK showed the highest prevalence of depression and anxiety, which the researchers suggested could be linked to socioeconomic differences, including lower levels of education and income compared to the US and Norwegian participants.
The findings underscore the importance of integrated care that includes not only orthopaedic and medical support but also regular mental health assessments. The authors of the study argue that addressing depression, anxiety and chronic pain should become a routine part of managing skeletal dysplasia in adulthood.
