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Due to copyright reasons, an electronic copy of the thesis must be ordered from the faculty. In order for the faculty to have time to process the order, it must be received by the faculty no later than 2 days prior to the public defence. Orders received later than 2 days before the defence will not be processed. Inquiries regarding the thesis after the public defence must be addressed to the candidate.
Trial Lecture – time and place
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Adjudication committee
- First opponent: Professor Outi Mäkitie, University of Helsinki, Finland
- Second opponent: Professor Pétur B. Júlíusson, University of Bergen
- Third member and chair of the evaluation committee: Professor II Cecilie Røe, University of Oslo
Chair of the Defence
Professor Eirik Helseth, University of Oslo
Principal Supervisor
Senior Consultant, Researcher, PhD Grethe Månum, Sunnaas Rehabilitation Hospital
Summary
The aims of this thesis were to systematically review and map the current research evidence concerning adults with achondroplasia, identify knowledge gaps, and investigate the prevalence and impact of important medical complications and physical functioning in a Norwegian cohort.
Our scoping review identified 27 primary studies concerning adults with achondroplasia. The majority (75%) had been conducted in the US, only two in Europe, and half were conducted more than 20 years ago. Few studies concerned prevalence rates of medical complications or physical functioning.
In a population-based observational study, 50 Norwegian adults with genetically confirmed achondroplasia were included, aged 16–87 years. Symptomatic spinal stenosis was found in 68% (34/50) of the participants, of whom the majority (32/34) had two or more spine levels affected. Median age at symptom onset was 33 years (range 10–67 years). Spinal stenosis was associated with reduced walking capacity, impaired ability to perform activities of daily living, and more pain, and might explain the previously reported early decline in physical health in achondroplasia.
Obstructive sleep apnoea was found in 59% (29/49) of the participants, of whom almost half were previously undetected. Sleep apnoea was more prevalent among men (19/27) than women (10/22).
The prevalence of cardiovascular risk factors and MRI-based body composition analyses indicated a low risk for developing cardiovascular disease or type 2 diabetes in achondroplasia, although hypertension was prevalent in men.
This thesis included the first population-based study of adults with achondroplasia, demonstrating a high burden of medical complications affecting their daily life and functioning. These important findings highlight the need for multidisciplinary lifelong care, and will be used in establishing recommendations for follow-up of adults with achondroplasia.
Additional information
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