| 1. |
- Alriksson-Schmidt, Ann I, et al.
(författare)
-
CP-North: living life in the Nordic countries? : A retrospective register research protocol on individuals with cerebral palsy and their parents living in Sweden, Norway, Denmark, Finland and Iceland
- 2019
-
Ingår i: BMJ Open. - : BMJ. - 2044-6055. ; 9:10
-
Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION: Cerebral palsy (CP) is one of the most common neurodevelopmental disabilities. Yet, most individuals with CP are adults. How individuals with CP fare in terms of health, quality of life (QoL), education, employment and income is largely unknown. Further, little is known about the effects of having a child with CP on the parents. The Nordic countries are known for their strong welfare systems, yet it is unknown to what extent the added burden related to disability is actually compensated for. We will explore how living with CP affects health, QoL, healthcare utilisation, education, labour market outcomes, socioeconomic status and mortality throughout the lifespan of individuals with CP and their parents. We will also investigate if these effects differ between subgroups, within and across the Nordic countries. METHODS AND ANALYSES: CP-North is a multidisciplinary 4-year (1 August 2017 to 31 July 2021) register research project. The research consortium comprises researchers and users from Sweden, Norway, Denmark, Iceland and Finland. Data from CP registries and follow-up programmes, or cohorts of individuals with CP, will be merged with general national registries. All individual studies are structured under three themes: medical outcomes, social and public health outcomes, and health economics. Both case-control and cohort designs will be included depending on the particular research question. Data will be analysed in the individual countries and later merged across nations.ETHICS AND DISSEMINATION: The ethics approval processes in each individual country are followed. Findings will be published (open access) in international peer-reviewed journals in related fields. Updates on CP-North will be published online at http://rdi.arcada.fi/cpnorth/en/.
|
|
| 2. |
- Alriksson-Schmidt, Ann I, et al.
(författare)
-
Living life with cerebral palsy? A description of the social safety nets for individuals with cerebral palsy in the Nordic countries
- 2021
-
Ingår i: Scandinavian Journal of Public Health. - : SAGE Publications. - 1651-1905 .- 1403-4948. ; 49:6, s. 653-665
-
Forskningsöversikt (refereegranskat)abstract
- AIMS: This report reviews major laws, acts and regulations of social benefits and services for individuals with disabilities, focusing on cerebral palsy in the five Nordic countries. It summarizes the available benefits and services and the re-application process and provides comparative analyses among the countries.METHODS: Published reports, articles and relevant government and municipal websites were reviewed for each respective country and used to compile an overview and comparison between the countries.RESULTS: In the Nordic countries, there are a number of laws and regulations in place to support individuals with cerebral palsy and their families. In addition, there are numerous social benefits available for which individuals with disabilities can apply. Although there are national differences, the similarities across the five countries regarding laws, social benefits offered for individuals with cerebral palsy and the application processes are clear. However, the application processes seem cumbersome and, at times, redundant. Physicians and other healthcare specialists repeatedly need to write 'medical certificates' describing the diagnosis and its consequences for a disability that is chronic and lifelong.CONCLUSIONS: Participation in society for individuals with cerebral palsy disabilities can be enabled by social benefits. By extension, social benefits may indirectly have implications for public health in individuals with disabilities. Although the lives of individuals with cerebral palsy - as with others - can improve in certain areas, the need for social benefits will generally increase, not decrease, over time. Although it is clearly important to have checks and balances that prevent system misuse, it might be worthwhile from a cost-benefit perspective to investigate whether the current systems could be improved to better manage time and resources and avoid emotional distress by streamlining the application process.
|
|
| 3. |
- Gisladottir, Rosa S, et al.
(författare)
-
Sequence Variants in TAAR5 and Other Loci Affect Human Odor Perception and Naming.
- 2020
-
Ingår i: Current biology : CB. - : Elsevier BV. - 1879-0445 .- 0960-9822. ; 30:23
-
Tidskriftsartikel (refereegranskat)abstract
- Olfactory receptor (OR) genes in humans form a special class characterized by unusually high DNA sequence diversity, which should give rise to differences in perception and behavior. In the largest genome-wide association study to date based on olfactory testing, we investigated odor perception and naming with smell tasks performed by 9,122 Icelanders, with replication in a separate sample of 2,204 individuals. We discovered an association between a low-frequency missense variant in TAAR5 and reduced intensity rating of fish odor containing trimethylamine (p.Ser95Pro, pcombined= 5.6× 10-15). We demonstrate that TAAR5 genotype affects aversion to fish odor, reflected by linguistic descriptions of the odor and pleasantness ratings. We also discovered common sequence variants in two canonical olfactory receptor loci that associate with increased intensity and naming of licorice odor (trans-anethole: lead variant p.Lys233Asn in OR6C70, pcombined= 8.8× 10-16 and pcombined= 1.4× 10-9) and enhanced naming of cinnamon (trans-cinnamaldehyde; intergenic variant rs317787-T, pcombined= 5.0× 10-17). Together, our results show that TAAR5 genotype variation influences human odor responses and highlight that sequence diversity in canonical OR genes can lead to enhanced olfactory ability, in contrast to the view that greater tolerance for mutations in the human OR repertoire leads to diminished function.
|
|
| 4. |
- Oddsson, Asmundur, et al.
(författare)
-
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality
- 2023
-
Ingår i: Nature Communications. - : Springer Nature. - 2041-1723. ; 14:1
-
Tidskriftsartikel (refereegranskat)abstract
- Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among 1.52 million individuals from six European populations. In this study, we identified 25 genes harboring protein-altering sequence variants with a strong deficit of homozygosity (10% or less of predicted homozygotes). Sequence variants in 12 of the genes cause Mendelian disease under a recessive mode of inheritance, two under a dominant mode, but variants in the remaining 11 have not been reported to cause disease. Sequence variants with a strong deficit of homozygosity are over-represented among genes essential for growth of human cell lines and genes orthologous to mouse genes known to affect viability. The function of these genes gives insight into the genetics of intrauterine lethality. We also identified 1077 genes with homozygous predicted loss-of-function genotypes not previously described, bringing the total set of genes completely knocked out in humans to 4785.
|
|
| 5. |
- Qiu, Chengxuan, et al.
(författare)
-
Diabetes, Markers of Brain Pathology and Cognitive Function : The Age, Gene/Environment Susceptibility-Reykjavik Study
- 2014
-
Ingår i: Annals of Neurology. - : Wiley. - 0364-5134 .- 1531-8249. ; 75:1, s. 138-146
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: We investigated whether, and the extent to which, vascular and degenerative lesions in the brain mediate the association of diabetes with poor cognitive performance. Methods: This cross-sectional study included 4,206 participants (age>65 years; 57.8% women) of the Age, Gene/Environment Susceptibility-Reykjavik Study. Data were collected through interview, clinical examination, psychological testing, and laboratory tests. The composite scores on memory, information-processing speed, and executive function were derived from a cognitive test battery. Markers of cerebral macrovascular (cortical infarcts), microvascular (subcortical infarcts, cerebral microbleeds, and higher white matter lesion volume), and neurodegenerative (lower gray matter, normal white matter, and total brain tissue volumes) processes were assessed on magnetic resonance images. Mediation models were employed to test the mediating effect of brain lesions on the association of diabetes with cognitive performance controlling for potential confounders. Results: There were 462 (11.0%) persons with diabetes. Diabetes was significantly associated with lower scores on processing speed and executive function, but not with memory function. Diabetes was significantly associated with all markers of brain pathology. All of these markers were significantly associated with lower scores on memory, processing speed, and executive function. Formal mediation tests suggested that markers of cerebrovascular and degenerative pathology significantly mediated the associations of diabetes with processing speed and executive function. Interpretation: Diabetes is associated with poor performance on cognitive tests of information-processing speed and executive function. The association is largely mediated by markers of both neurodegeneration and cerebrovascular disease. Older people with diabetes should be monitored for cognitive problems and brain lesions.
|
|
| 6. |
- Rodby Bousquet, Elisabet, et al.
(författare)
-
Interrater reliability and construct validity of the posture and postural ability scale in adults with cerebral pulsy in supine, prone, siting and standing position
- 2014
-
Ingår i: Clinical Rehabilitation. - : SAGE Publications. - 0269-2155 .- 1477-0873. ; 28:1, s. 82-90
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Objective To evaluate reliability, internal consistency and construct validity of the Posture and Postural Ability Scale for adults with cerebral palsy. Design Psychometric evaluation of a clinical assessment tool. Setting Rehabilitation Centres in Sweden and Iceland. Subjects Thirty adults with cerebral palsy aged 19-22 years, six people at each level I-V of the Gross Motor Function Classification System. Main measures The Posture and Postural Ability Scale contains a 7-point ordinal scale for postural ability in supine, prone, sitting, and standing and items for assessment of posture. Posture and postural ability was rated from photos and videos by three independent assessors. Interrater reliability was calculated using weighted Kappa. Internal consistency was analysed with Cronbach’s alpha if item deleted and corrected item-total correlation. Construct validity was evaluated based on known groups, using Jonckheere Terpstra for averaged values of the three raters relative to the Gross Motor Function Classification System. Results There was an excellent interrater reliability (kappa=0.85-0.99) and a high internal consistency (alpha=0.96-0.97, item-total correlation=0.60-0.91). Median values differed (p<0.02) between known groups represented by the levels of gross motor function, showing construct validity for all items. Conclusion The Posture and Postural Ability scale showed an excellent interrater reliability for experienced raters, a high internal consistency and construct validity. It can detect postural asymmetries in adults with cerebral palsy at all levels of gross motor function.
|
|
| 7. |
- Siggeirsdottir, Kristin, et al.
(författare)
-
Inaccuracy in self-report of fractures may underestimate association with health outcomes when compared with medical record based fracture registry
- 2007
-
Ingår i: European Journal of Epidemiology. - : Springer Science and Business Media LLC. - 1573-7284 .- 0393-2990. ; 22:9, s. 631-639
-
Tidskriftsartikel (refereegranskat)abstract
- Introduction and objective Misreporting fractures in questionnaires is known. However, the effect of misreporting on the association of fractures with subsequent health outcomes has not been examined. Methods Data from a fracture registry (FR) developed from an extensive review of radiographic and medical records were related to self-report of fracture for 2,255 participants from the AGES Reykjavik Study. This data was used to determine false negative and false positive rates of self-reported fractures, correlates of misreporting, and the potential effect of the misreporting on estimates of health outcomes following fractures. Results In women, the false positive rate decreased with age as the false negative rate increased with no clear trend with age in men. Kappa values for agreement between FR and self-report were generally higher in women than men with the best agreement for forearm fracture (men 0.64 and women 0.82) and the least for rib (men 0.28 and women 0.25). Impaired cognition was a major factor associated with discordant answers between FR and self-report, OR 1.7 (95% CI: 1.3-2.1) (P < 0.0001). We estimated the effect of misreporting on health after fracture by comparison of the association of the self-report of fracture and fracture from the FR, adjusting for those factors associated with discordance. The weighted attenuation factor measured by mobility and muscle strength was 11% (95% CI: 0-24%) when adjusted for age and sex but reduced to 6% (95% CI: -10-22%) when adjusted for cognitive impairment. Conclusion Studies of hip fractures should include an independent ascertainment of fracture but for other fractures this study supports the use of self-report.
|
|
