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Johansen H.,National Resource Center for Rare Disorders | Dammann B.,National Resource Center for Rare Disorders | Andresen I.-L.,National Resource Center for Rare Disorders | Fagerland M.W.,University of Oslo
Health and Quality of Life Outcomes | Year: 2013

Purpose: To examine children's health-related quality of life and parents' satisfaction with life and explore the association between the two in families where a child has a rare disorder.Methods: We used a cross-sectional study design. A questionnaire was sent to parents of 439 school children (6-18 years) with congenital rare disorders. Children's health-related quality of life (HRQOL) was examined by Pediatric Quality of Life InventoryTM 4.0 (PedsQL) Norwegian version. Satisfaction with life was examined by Satisfaction with Life Scale (SWLS).Results: The response rate was 48% (n = 209). The average age of the children was 12 years and 50% were girls. The parents scored their children with reduced physical, emotional, social and school functioning. The reductions were greatest in the physical area. Parents scored average to high on SWLS but significantly lower than the general Norwegian population. There was a positive association between parental SWLS and the children's social functioning and school functioning.Conclusion: Children with congenital, rare disorders often require assistance from many parts of the public service system. Caring for their physical needs should not conflict with their educational and social needs. It is important that the children's school-life is organized so that the diagnosis does not interfere with the children's education and social life more than necessary. © 2013 Johansen et al.; licensee BioMed Central Ltd.


Wekre L.L.,National Resource Center for Rare Disorders | Froslie K.F.,Biostatistics Group | Haugen L.,National Resource Center for Rare Disorders | Falch J.A.,University of Oslo
Disability and Rehabilitation | Year: 2010

Purposes. To describe demographical variables, and to study functional ability to perform activities of daily life in adults with osteogenesis imperfecta (OI). Methods. Population-based study. Ninety-seven patients aged 25 years and older, 41 men and 56 women, were included. For the demographical variables, comparison was made to a matched control-group (475 persons) from the Norwegian general population. Structured interviews concerning social conditions, employment and educational issues and clinical examination were performed. The Sunnaas Activities of Daily Living (ADL) Index was used to assess the ability to perform ADL. Results. The prevalence of clinical manifestations according to Sillence was in accordance with other studies. Demographical variables showed that most adults with OI are married and have children. They had a higher educational level than the control group, but the employment rate was significantly lower. However, the rate of employed men was similar in both groups. Adult persons with OI achieved a high score when tested for ADL. Conclusions. Adults with OI are well educated compared with the general population, and most of them are employed. High scores when tested for ADL indicate that most of them are able to live their lives independently, even though there are some differences according to the severity of the disorder. © 2010 Informa UK Ltd.


Lundby R.,University of Oslo | Rand-Hendriksen S.,University of Oslo | Rand-Hendriksen S.,National Resource Center for Rare Disorders | Hald J.K.,University of Oslo | And 2 more authors.
Genetics in Medicine | Year: 2012

Purpose: The objectives of this study were to establish the prevalence of pulmonary artery dilatation in Marfan syndrome using modern radiological methods and to correlate the diameter of the vessel with aortic disease.Methods: Magnetic resonance or computed tomography imaging of the pulmonary artery and aorta was performed in 87 patients with proven Marfan syndrome. Diameters of the root and trunk of the pulmonary artery and of the aortic root were measured perpendicular to the long axes of the vessels. Pulmonary artery diameters were measured on axial images, and aortic diameters were assessed on oblique sagittal images.Results:As compared with normal values in the literature, 47 of the 87 patients (54%) had widening of the trunk of the pulmonary artery (30 mm). Of these 47, 15% had no sign of disease of the ascending aorta. The mean (SD) ratio between the diameters of the root and trunk of the pulmonary artery was 1.18 (0.155). Multivariate analysis showed that surgery of the ascending aorta and high body surface area were associated with dilatation of the trunk of the pulmonary artery.Conclusions:Pulmonary artery dilatation is present in a high proportion of patients with Marfan syndrome as assessed using cutoff values based on measurements in the normal population. Severe disease of the ascending aorta correlates significantly with pulmonary artery trunk dilatation in patients with Marfan syndrome. © American College of Medical Genetics and Genomics.


Drolsum L.,University of Oslo | Rand-Hendriksen S.,University of Oslo | Rand-Hendriksen S.,National Resource Center for Rare Disorders | Paus B.,University of Oslo | And 2 more authors.
Acta Ophthalmologica | Year: 2015

Purpose To study ocular characteristics in 87 patients with verified Marfan syndrome (MFS) based on the Ghent criteria from 1996 (Ghent-1). Methods The position of the lens was noted by observing the eye in different gaze directions in maximal mydriasis during slit lamp examination. Ectopia lentis (EL) was classified as subluxated (dislocation slightly backwards) or luxated (vertical or horizontal displacement). Corneal curvature, axial length (AL), corneal diameter, central corneal thickness, anterior chamber depth, lens thickness, condition of the iris, intraocular pressure, spherical equivalent and visual acuity were also investigated. Results EL was found in 108 eyes (62.1%). Of the 68 phakic eyes with EL, 43 (63.2%) had subluxation. Mean AL was 24.80 ± 2.57 mm, and the AL was above 23.5 mm in 65.3%. Mean keratometry (K) in phakic eyes was 41.79 ± 1.70 diopters (D), and the K value was <41.5D in 46.8%. Iris hypoplasia was found in 3.4%. Myopia above 3D occurred in 38.4% of the phakic eyes. Mean binocular logMAR was 0.10 ± 0.32. Only five patients (5.7%) had a logMAR more than 0.5. These 5 patients had EL, and 4 of them were amblyopic. Conclusion In this strictly defined MFS group fulfilling the Ghent-1 criteria, the prevalence of EL was 62.1%. In many cases, the dislocation of the lens was subtle. On average, the corneas were flattened and the globe length was increased. Only a few patients were visually impaired. Children with MFS should have a thorough follow up to avoid amblyopia. © 2014 The Authors. Acta Ophthalmologica published by John Wiley & Sons Ltd on behalf of Acta Ophthalmologica Scandinavica Foundation.


Radunovic Z.,University of Oslo | Wekre L.L.,National Resource Center for Rare Disorders | Diep L.M.,University of Oslo | Steine K.,University of Oslo
American Heart Journal | Year: 2011

Background: The aim of this study was to investigate cardiac abnormalities in adults with osteogenesis imperfecta (OI). Methods: The clinical and echocardiographic survey included 99 adults with OI divided into 3 clinical types-I, III, and IV-and 52 controls. Left ventricular end-diastolic dimensions (LVIDds), mass, and 4 aortic diameters were measured by standard echocardiography and indexed for body surface area. Results: Hypertension was registered in 37 individuals (37.4%). The OI group had significantly lower body surface area than the control individuals, 1.7 ± 0.3 versus 1.9 ± 0.2 m2 (P < .05). The LVIDd and LV mass were significantly larger in the OI group when compared with the controls, 2.98 ± .64 versus 2.59 ± .26 cm/m2 (P < .05) and 97.3 ± 30.1 versus 73.3 ± 18.0 g/m2 (P < .05), respectively. Type III OI showed significantly enlarged LVIDd as compared with types I and IV OI, 4.33 ± 1.10 versus 2.83 ± .33 (P < .05) versus 2.85 ± .37 cm/m 2 (P < .05), respectively. All aortic diameters were significantly larger in the OI group than in the control group, as they were in type III compared with types I and IV; 10.1% mild aortic regurgitation (AR), 10.1% moderate AR, and 7.1% moderate mitral regurgitation were registered in the OI group. Conclusions: Increased LVIDd, LV mass, mitral regurgitation, and AR were found in adult patients with OI compared with the control group. The changes in LV and dilatation of aorta seemed to be more pronounced in patients with type III compared with types I and IV OI. © 2011 Mosby, Inc. All rights reserved.

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