| 1. |
- Reynolds, C. A., et al.
(author)
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Sortilin receptor 1 predicts longitudinal cognitive change
- 2013
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In: Neurobiology of Aging. - : Elsevier BV. - 0197-4580 .- 1558-1497. ; 34:6
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Journal article (peer-reviewed)abstract
- The gene encoding sortilin receptor 1 (SORL1) has been associated with Alzheimer's disease risk. We examined 15 SORL1 variants and single nucleotide polymorphism (SNP) set risk scores in relation to longitudinal verbal, spatial, memory, and perceptual speed performance, testing for age trends and sex-specific effects. Altogether, 1609 individuals from 3 population-based Swedish twin studies were assessed up to 5 times across 16 years. Controlling for apolipoprotein E genotype (APOE), multiple simple and sex-moderated associations were observed for spatial, episodic memory, and verbal trajectories (p = 1.25E-03 to p = 4.83E-02). Five variants (rs11600875, rs753780, rs7105365, rs11820794, rs2070045) were associated across domains. Notably, in those homozygous for the rs2070045 risk allele, men demonstrated initially favorable performance but accelerating declines, and women showed overall lower performance. SNP set risk scores predicted spatial (Card Rotations, p = 5.92E-03) and episodic memory trajectories (Thurstone Picture Memory, p = 3.34E-02), where higher risk scores benefited men's versus women's performance up to age 75 but with accelerating declines. SORL1 is associated with cognitive aging, and might contribute differentially to change in men and women.
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| 2. |
- Tammimies, Kristiina, et al.
(author)
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Association between copy number variation and response to social skills training in Autism Spectrum Disorder
- 2019
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In: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 9:1
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Journal article (peer-reviewed)abstract
- Challenges in social communication and interaction are core features of autism spectrum disorder (ASD) for which social skills group training (SSGT) is a commonly used intervention. SSGT has shown modest and heterogeneous effects. One of the major genetic risk factors in ASD is rare copy number variation (CNV). However, limited information exists whether CNV profiles could be used to aid intervention decisions. Here, we analyzed the rare genic CNV carrier status for 207 children, of which 105 received SSGT and 102 standard care as part of a randomized clinical trial for SSGT. We found that being a carrier of rare genic CNV did not have an impact on the SSGT outcome measured by the parent-report Social Responsiveness Scale (SRS). However, when stratifying by pathogenicity and size of the CNVs, we identified that carriers of clinically significant and large genic CNVs (>500 kb) showed inferior SRS outcomes at post-intervention (P = 0.047 and P = 0.036, respectively) and follow-up (P = 0.008 and P = 0.072, respectively) when adjusting for standard care effects. Our study provides preliminary evidence that carriers of clinically significant and large genic CNVs might not benefit as much from SSGT as non-carriers. Our results indicate that genetic information might help guide the modifications of interventions in ASD.
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| 3. |
- Riggare, Sara, et al.
(author)
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Patients are doing it for themselves : A survey on disease-specific knowledge acquisition among people with Parkinson's disease in Sweden.
- 2017
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In: Health Informatics Journal. - : SAGE Publications. - 1460-4582 .- 1741-2811.
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Journal article (peer-reviewed)abstract
- Effective self-management is key to living well with Parkinson's disease and one important aspect is disease-specific knowledge. This article explores how people with Parkinson's disease in Sweden (1) acquire disease-specific knowledge and (2) use Parkinson's disease-related healthcare. Data were collected through an online survey, which had 346 respondents (16-87 years old, median age: 68 years, 51% male; time since diagnosis: 0-31 years, median time: 7 years). Our results show that disease-specific knowledge is mainly found online, especially for women with Parkinson's disease and people with Parkinson's disease of working age, that most people with Parkinson's disease in Sweden see their neurologist for 1 h or less per year and only one in two people with Parkinson's disease has regular contact with other Parkinson's disease-related healthcare professionals. We also find that people with Parkinson's disease reporting higher levels of specific knowledge also are more likely to be satisfied with the amount of time they get with their neurologist, regardless of the amount of time.
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| 4. |
- Arvidsson, Patrik, et al.
(author)
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Content validity and usefulness of Picture My Participation for measuring participation in children with and without intellectual disability in South Africa and Sweden
- 2020
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In: Scandinavian Journal of Occupational Therapy. - : Informa UK Limited. - 1103-8128 .- 1651-2014. ; 27:5, s. 336-348
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Journal article (peer-reviewed)abstract
- Background: Participation comprises attendance and involvement in everyday situations. Picture My Participation (PmP) is an instrument intended to measure participation in children with disabilities, particularly in low and middle income countries. Aim: To investigate content validity and usefulness of PmP for measuring participation in children with intellectual disability (ID) in South Africa and Sweden. Methods: A picture supported interview with 149 children, 6-18 years, with and without ID. Twenty everyday activities were provided. The three most important activities were selected by the child. Attendance was rated on all activities. Involvement was rated on the most important. Results: All activities were selected as important by at least one child with ID in both countries. There were similarities in perceived importance between the children with and without ID from South Africa. The children from South Africa with ID were the only subgroup that used all scale points for rating attendance and involvement. Conclusion: The 20 selected activities of PmP were especially relevant for children with ID in South Africa. The usefulness of the scales was higher for the children with ID in both countries. PmP is promising for assessing participation across different settings but psychometrical properties and clinical utility need further exploration.
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| 5. |
- Borgestig, Maria, 1968-, et al.
(author)
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Gaze-based assistive technology in daily activities in children with severe physical impairments : an intervention study
- 2017
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In: Developmental Neurorehabilitation. - : Taylor & Francis. - 1751-8423 .- 1751-8431. ; 20:3, s. 129-141
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Journal article (peer-reviewed)abstract
- Objective: To establish the impact of a gaze-based assistive technology (AT) intervention on activity repertoire, autonomous use, and goal attainment in children with severe physical impairments, and to examine parents’ satisfaction with the gaze-based AT and with services related to the gaze-based AT intervention.Methods: Non-experimental multiple case study with before, after, and follow-up design. Ten children with severe physical impairments without speaking ability (aged 1–15 years) participated in gaze-based AT intervention for 9–10 months, during which period the gaze-based AT was implemented in daily activities.Results: Repertoire of computer activities increased for seven children. All children had sustained usage of gaze-based AT in daily activities at follow-up, all had attained goals, and parents’ satisfaction with the AT and with services was high.Discussion: The gaze-based AT intervention was effective in guiding parents and teachers to continue supporting the children to perform activities with the AT after the intervention program.
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| 6. |
- Fransson, Eleonor I, et al.
(author)
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Job strain and the risk of stroke : an individual-participant data meta-analysis
- 2015
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In: Stroke. - 0039-2499 .- 1524-4628. ; 46:2, s. 557-559
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Journal article (peer-reviewed)abstract
- BACKGROUND AND PURPOSE: Psychosocial stress at work has been proposed to be a risk factor for cardiovascular disease. However, its role as a risk factor for stroke is uncertain.METHODS: We conducted an individual-participant-data meta-analysis of 196 380 males and females from 14 European cohort studies to investigate the association between job strain, a measure of work-related stress, and incident stroke.RESULTS: In 1.8 million person-years at risk (mean follow-up 9.2 years), 2023 first-time stroke events were recorded. The age- and sex-adjusted hazard ratio for job strain relative to no job strain was 1.24 (95% confidence interval, 1.05;1.47) for ischemic stroke, 1.01 (95% confidence interval, 0.75;1.36) for hemorrhagic stroke, and 1.09 (95% confidence interval, 0.94;1.26) for overall stroke. The association with ischemic stroke was robust to further adjustment for socioeconomic status.CONCLUSION: Job strain may be associated with an increased risk of ischemic stroke, but further research is needed to determine whether interventions targeting job strain would reduce stroke risk beyond existing preventive strategies.
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| 7. |
- Kivimäki, Mika, et al.
(author)
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Body mass index and risk of dementia : Analysis of individual-level data from 1.3 million individuals
- 2018
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In: Alzheimer's & Dementia. - : Elsevier. - 1552-5260 .- 1552-5279. ; 14:5, s. 601-609
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Journal article (peer-reviewed)abstract
- Introduction: Higher midlife body mass index (BMI) is suggested to increase the risk of dementia, but weight loss during the preclinical dementia phase may mask such effects. Methods: We examined this hypothesis in 1,349,857 dementia-free participants from 39 cohort studies. BMI was assessed at baseline. Dementia was ascertained at follow-up using linkage to electronic health records (N = 6894). We assumed BMI is little affected by preclinical dementia when assessed decades before dementia onset and much affected when assessed nearer diagnosis. Results: Hazard ratios per 5-kg/m(2) increase in BMI for dementia were 0.71 (95% confidence interval = 0.66-0.77), 0.94 (0.89-0.99), and 1.16 (1.05-1.27) when BMI was assessed 10 years, 10-20 years, and >20 years before dementia diagnosis. Conclusions: The association between BMI and dementia is likely to be attributable to two different processes: a harmful effect of higher BMI, which is observable in long follow-up, and a reverse-causation effect that makes a higher BMI to appear protective when the follow-up is short. (C) 2017 The Authors. Published by Elsevier Inc. on behalf of the Alzheimer's Association.
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