Health-Related Quality of Life in adults with a Skeletal Dysplasia

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Project leader:

Svein O. Fredwall, Medical Doctor, PhD

Abstract

Skeletal dysplasias are a heterogeneous group of more than 700 genetic disorders characterized by abnormal growth and remodeling of cartilage and bone. There is wide phenotypic variation in this population. Affected individuals are predisposed to develop orthopedic problems such as degenerative joint disease, limb deformities, scoliosis and spinal stenosis, that can impact their ability to carry out tasks and activities of daily living. Short stature and chronic pain can reduce physical function and pose barriers to navigating physical spaces designed for average-statured bodies. Living with the scrutiny of society as a short person may also contribute as a stressor. All of these factors can affect the well-being of the individual living with a skeletal dysplasia and may impact on quality of life for this population.

There are significant gaps in the literature on health-related quality of life (HRQOL) in adults with skeletal dysplasias. Some studies have indicated a high prevalence (more than 50%) of mental health issues, including depression, anxiety and low self-esteem. However, most of these studies are small or have been conducted in the US. Moreover, the majority of these studies reflect the perspective of people with achondroplasia, which is the most common type of short-limbed skeletal dysplasia. Studies with more balanced samples that include individuals across multiple skeletal dysplasia diagnoses are needed to determine the prevalence and impact of mental health conditions across the broader skeletal dysplasia population.  

The aims of this study were to explore mental health, HRQOL and pain in adults with skeletal dysplasia in the US, UK and Norway by using well-recognized generic questionnaires, and to compare results across countries, age groups, gender and diagnostic groups.

Questionnaires used in this study are: SF 36-Item Health Survey (SF-36); PROMIS® 29+2; Personal Health Questionnaire Depression Scale (PHQ8); Generalized Anxiety Disorder 7-Item (GAD-7); Health Assessment Questionnaire Disability Index (HAQ-DI); 12-item Grit Scale; Pain Catastrophizing Scale.
Status: the Norway site completed data collection by January 2022, the US site completed data collection in July 2023. The UK site aims to complete data collection within October/November 2023.

Elisabeth Fagereng, psychologist

Taran Youssefian Blakstvedt, psychologist

Anne-Mette Bredahl, psychologist, specialist in clinical health psychology and community psychology, PhD

There are several collaborators at the US and UK study sites

Ethical approvals

REK (application number 278769)
SIKT: 471837

Funding:

Internal (TRS)

Time period

Aug 2021 – end 2025