| dc.date.accessioned | 2022-03-25T12:21:21Z | |
| dc.date.available | 2022-03-25T12:21:21Z | |
| dc.date.issued | 2022 | |
| dc.identifier.uri | http://hdl.handle.net/10852/92900 | |
| dc.description.abstract | While medical complications are well described in children with achondroplasia, our scoping review found few studies concerning adults.
The Norwegian Adult Achondroplasia Study included 50 Norwegian adults, aged 16–87 years, with genetically confirmed achondroplasia. The study displayed a high prevalence of symptomatic spinal stenosis, which was associated with reduced walking capacity, impaired ability to perform activities of daily living, and more pain. Obstructive sleep apnoea was also highly prevalent, and many participants were previously undiagnosed with this complication. 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 has provided population-based data on medical complications and physical functioning in 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. | en_US |
| dc.language.iso | en | en_US |
| dc.relation.haspart | Paper I. Fredwall SO, Maanum G, Johansen H, Snekkevik H, Savarirayan R, Lidal IB. Current knowledge of medical complications in adults with achondroplasia: A scoping review. Clinical genetics. 2020;97(1):179-97. DOI: 10.1111/cge.13542. The article is included in the thesis. Also available at: https://doi.org/10.1111/cge.13542 | |
| dc.relation.haspart | Paper II. Fredwall SO, Steen U, de Vries O, Rustad CF, Eggesbø HB, Weedon-Fekjær H, et al. High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study. Orphanet journal of rare diseases. 2020;15(1):123. DOI: 10.1186/s13023-020-01397-6. (Erratum: Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study. Orphanet journal of rare diseases. 2020;15(1):342. DOI: 10.1186/s13023-020-01636-w) The article is included in the thesis. Also available at: https://doi.org/10.1186/s13023-020-01397-6 | |
| dc.relation.haspart | Paper III. Fredwall SO, Øverland B, Berdal H, Berg S, Weedon-Fekjær H, Lidal IB, et al. Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study. Orphanet journal of rare diseases. 2021;16(1):156. DOI: 10.1186/s13023-021-01792-7. The article is included in the thesis. Also available at: https://doi.org/10.1186/s13023-021-01792-7 | |
| dc.relation.haspart | Paper IV. Fredwall SO, Linge J, Leinhard OD, Kjonigsen L, Eggesbo HB, Weedon-Fekjaer H, et al. Cardiovascular risk factors and body composition in adults with achondroplasia. Genet Med. 2021;23(4):732-9. DOI: 10.1038/s41436-020-01024-6. The article is included in the thesis. Also available at: https://doi.org/10.1038/s41436-020-01024-6 | |
| dc.relation.uri | https://doi.org/10.1111/cge.13542 | |
| dc.relation.uri | https://doi.org/10.1186/s13023-020-01397-6 | |
| dc.relation.uri | https://doi.org/10.1186/s13023-021-01792-7 | |
| dc.relation.uri | https://doi.org/10.1038/s41436-020-01024-6 | |
| dc.title | The Norwegian Adult Achondroplasia Study: A population-based study of medical complications, physical functioning, cardiovascular risk factors, and body composition in adults with achondroplasia | en_US |
| dc.type | Doctoral thesis | en_US |
| dc.creator.author | Fredwall, Svein Otto | |
| dc.identifier.urn | URN:NBN:no-95472 | |
| dc.type.document | Doktoravhandling | en_US |
| dc.identifier.fulltext | Fulltext https://www.duo.uio.no/bitstream/handle/10852/92900/1/PhD-Fredwall-2022.pdf | |