Family in focus : new perspectives on early childhood special education

This volume consists of articles which summarize both theoretical perspectives and research themes from the project "Multidisability, Family, and Childhood" which was carried out at the Department of Special Education in the University of Jyvaskyla from 1990 to 1993. All writers have participated in the project as consultants or researchers. The chapters cover a variety of topics on the theme of early childhood special education. Thomas Weisner and Ronald Gallimore (University of California, Los Angeles) introduce (Chapter 1) the central principles of ecocultural theory and discuss its applicability to practice. Dianne and Philip Ferguson (University of Oregon, Eugene) examine (Chapter 2) the features of family-professional collaboration. In Chapter 3, Marika Veisson, Aino Saar, and Ene Magi (Tallinn Pedagogical University, Tallinn) present preliminary results from their study on parents' needs in Estonia and support-organizations founded in the 1990's. Markku Leskinen and Jaana Juvonen present (Chapter 4) an attributional model in which parents' responsibility perceptions predict their child-focused emotions which then predict the level of adjustment. !iris Maki examines (Chapter 5) the problems in the assessment of children with severe disabilities and discusses the ecological approach's applicability to early intervention practices. Marjo-Riitta Mattus examines (Chapter 6) different strategies for empowering families by concentrating especially on the of question how an interview could be an intervention. The last set of articles concern families of small premature infants and their development. Maija Virpiranta-Salo discusses (Chapter 7) the development of parenthood in parents whose family-life starts with special circumstances. Annikki Riitesuo provides (Chapter 8) a literature review about speech and language problems in prematurely-born children. Finally, Tuula Laukkanen discusses (Chapter 9) parentprofessional communication in a health care context

Individual and environmental factors underlying life space of older people - study protocol and design of a cohort study on life-space mobility in old age (LISPE)

Background. A crucial issue for the sustainability of societies is how to maintain health and functioning in older people. With increasing age, losses in vision, hearing, balance, mobility and cognitive capacity render older people particularly exposed to environmental barriers. A central building block of human functioning is walking. Walking difficulties may start to develop in midlife and become increasingly prevalent with age. Life-space mobility reflects actual mobility performance by taking into account the balance between older adults internal physiologic capacity and the external challenges they encounter in daily life. The aim of the Life-Space Mobility in Old Age (LISPE) project is to examine how home and neighborhood characteristics influence people’s health, functioning, disability, quality of life and life-space mobility in the context of aging. In addition, examine whether a person’s health and function influence life-space mobility. Design. This paper describes the study protocol of the LISPE project, which is a 2-year prospective cohort study of community-dwelling older people aged 75 to 90 (n = 848). The data consists of a baseline survey including face-to-face interviews, objective observation of the home environment and a physical performance test in the participant’s home. All the baseline participants will be interviewed over the phone one and two years after baseline to collect data on life-space mobility, disability and participation restriction. Additional home interviews and environmental evaluations will be conducted for those who relocate during the study period. Data on mortality and health service use will be collected from national registers. In a substudy on walking activity and life space, 358 participants kept a 7-day diary and, in addition, 176 participants also wore an accelerometer. Discussion. Our study, which includes extensive data collection with a large sample, provides a unique opportunity to study topics of importance for aging societies. A novel approach is employed which enables us to study the interactions of environmental features and individual characteristics underlying the life-space of older people. Potentially, the results of this study will contribute to improvements in strategies to postpone or prevent progression to disability and loss of independence.peerReviewe

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses of 141 lipid species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes (n = 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10−8), 10 of which associate with CVD risk including five new loci-COL5A1, GLTPD2, SPTLC3, MBOAT7 and GALNT16 (false discovery rate<0.05). We identify loci for lipid species that are shown to predict CVD e.g., SPTLC3 for CER(d18:1/24:1). We show that lipoprotein lipase (LPL) may more efficiently hydrolyze medium length triacylglycerides (TAGs) than others. Polyunsaturated lipids have highest heritability and genetic correlations, suggesting considerable genetic regulation at fatty acids levels. We find low genetic correlations between traditional lipids and lipid species. Our results show that lipidomic profiles capture information beyond traditional lipids and identify genetic variants modifying lipid levels and risk of CVD

Sleep apnoea is a risk factor for severe COVID-19

Background Obstructive sleep apnoea (OSA) is associated with higher body mass index (BMI), diabetes, older age and male gender, which are all risk factors for severe COVID-19.We aimed to study if OSA is an independent risk factor for COVID-19 infection or for severe COVID-19.Methods OSA diagnosis and COVID-19 infection were extracted from the hospital discharge, causes of death and infectious diseases registries in individuals who participated in the FinnGen study (n=260 405). Severe COVID-19 was defined as COVID-19 requiring hospitalisation. Multivariate logistic regression model was used to examine association. Comorbidities for either COVID-19 or OSA were selected as covariates. We performed a meta-analysis with previous studies.Results We identified 445 individuals with COVID-19, and 38 (8.5%) of them with OSA of whom 19 out of 91 (20.9%) were hospitalised. OSA associated with COVID-19 hospitalisation independent from age, sex, BMI and comorbidities (p-unadjusted=5.13×10−5, OR-adjusted=2.93 (95% CI 1.02 to 8.39), p-adjusted=0.045). OSA was not associated with the risk of contracting COVID-19 (p=0.25). A meta-analysis of OSA and severe COVID-19 showed association across 15 835 COVID-19 positive controls, and n=1294 patients with OSA with severe COVID-19 (OR=2.37 (95% 1.14 to 4.95), p=0.021).Conclusion Risk for contracting COVID-19 was the same for patients with OSA and those without OSA. In contrast, among COVID-19 positive patients, OSA was associated with higher risk for hospitalisation. Our findings are in line with earlier works and suggest OSA as an independent risk factor for severe COVID-19

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Abstract Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-coverage whole X chromosome sequencing study of 65,322 multi-ancestry participants and perform replication among 456,893 European participants. Common alleles on chromosome Xq23 are strongly associated with reduced total cholesterol, LDL cholesterol, and triglycerides (min P = 8.5 × 10−72), with similar effects for males and females. Chromosome Xq23 lipid-lowering alleles are associated with reduced odds for CHD among 42,545 cases and 591,247 controls (P = 1.7 × 10−4), and reduced odds for diabetes mellitus type 2 among 54,095 cases and 573,885 controls (P = 1.4 × 10−5). Although we observe an association with increased BMI, waist-to-hip ratio adjusted for BMI is reduced, bioimpedance analyses indicate increased gluteofemoral fat, and abdominal MRI analyses indicate reduced visceral adiposity. Co-localization analyses strongly correlate increased CHRDL1 gene expression, particularly in adipose tissue, with reduced concentrations of blood lipids

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Uterine leiomyomata (UL) are the most common tumours of the female genital tract and the primary cause of surgical removal of the uterus. Genetic factors contribute to UL susceptibility. To add understanding to the heritable genetic risk factors, we conduct a genome-wide association study (GWAS) of UL in up to 426,558 European women from FinnGen and a previous UL meta-GWAS. In addition to the 50 known UL loci, we identify 22 loci that have not been associated with UL in prior studies. UL-associated loci harbour genes enriched for development, growth, and cellular senescence. Of particular interest are the smooth muscle cell differentiation and proliferation-regulating genes functioning on the myocardin-cyclin dependent kinase inhibitor 1A pathway. Our results further suggest that genetic predisposition to increased fat-free mass may be causally related to higher UL risk, underscoring the involvement of altered muscle tissue biology in UL pathophysiology. Overall, our findings add to the understanding of the genetic pathways underlying UL, which may aid in developing novel therapeutics.Peer reviewe