| 1. |
- Anney, Richard, et al.
(författare)
-
A genome-wide scan for common alleles affecting risk for autism.
- 2010
-
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 19:20, s. 4072-4082
-
Tidskriftsartikel (refereegranskat)abstract
- Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
|
|
| 2. |
- Anney, Richard, et al.
(författare)
-
Individual common variants exert weak effects on the risk for autism spectrum disorders.
- 2012
-
Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 21:21, s. 4781-92
-
Tidskriftsartikel (refereegranskat)abstract
- While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASD), the contribution of common variation to ASD risk is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating association of individual SNPs, we also sought evidence that common variants, en masse, might affect risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest p-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. By contrast, allele-scores derived from the transmission of common alleles to Stage 1 cases significantly predict case-status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele-score results, it is reasonable to conclude that common variants affect ASD risk but their individual effects are modest.
|
|
| 3. |
- Casey, Jillian P, et al.
(författare)
-
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.
- 2012
-
Ingår i: Human Genetics. - : Springer Science and Business Media LLC. - 0340-6717 .- 1432-1203. ; 131:4, s. 565-579
-
Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
|
|
| 4. |
- Pinto, Dalila, et al.
(författare)
-
Functional impact of global rare copy number variation in autism spectrum disorders.
- 2010
-
Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 466:7304, s. 368-372
-
Tidskriftsartikel (refereegranskat)abstract
- The autism spectrum disorders (ASDs) are a group of conditions characterized by impairments in reciprocal social interaction and communication, and the presence of restricted and repetitive behaviours. Individuals with an ASD vary greatly in cognitive development, which can range from above average to intellectual disability. Although ASDs are known to be highly heritable ( approximately 90%), the underlying genetic determinants are still largely unknown. Here we analysed the genome-wide characteristics of rare (<1% frequency) copy number variation in ASD using dense genotyping arrays. When comparing 996 ASD individuals of European ancestry to 1,287 matched controls, cases were found to carry a higher global burden of rare, genic copy number variants (CNVs) (1.19 fold, P = 0.012), especially so for loci previously implicated in either ASD and/or intellectual disability (1.69 fold, P = 3.4 x 10(-4)). Among the CNVs there were numerous de novo and inherited events, sometimes in combination in a given family, implicating many novel ASD genes such as SHANK2, SYNGAP1, DLGAP2 and the X-linked DDX53-PTCHD1 locus. We also discovered an enrichment of CNVs disrupting functional gene sets involved in cellular proliferation, projection and motility, and GTPase/Ras signalling. Our results reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
|
|
| 5. |
- Chaste, Pauline, et al.
(författare)
-
Genetic variations of the melatonin pathway in patients with attention-deficit and hyperactivity disorders.
- 2011
-
Ingår i: Journal of Pineal Research. - 0742-3098 .- 1600-079X. ; 51:4, s. 394-399
-
Tidskriftsartikel (refereegranskat)abstract
- Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration in melatonin signaling has been reported in a broad range of diseases, but little is known about the genetic variability of this pathway in humans. Here, we sequenced all the genes of the melatonin pathway -AA-NAT, ASMT, MTNR1A, MTNR1B and GPR50 - in 321 individuals from Sweden including 101 patients with attention-deficit/hyperactivity disorder (ADHD) and 220 controls from the general population. We could find several damaging mutations in patients with ADHD, but no significant enrichment compared with the general population. Among these variations, we found a splice site mutation in ASMT (IVS5+2T>C) and one stop mutation in MTNR1A (Y170X) - detected exclusively in patients with ADHD - for which biochemical analyses indicated that they abolish the activity of ASMT and MTNR1A. These genetic and functional results represent the first comprehensive ascertainment of melatonin signaling deficiency in ADHD.
|
|
| 6. |
- Chaste, Pauline, et al.
(författare)
-
Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.
- 2010
-
Ingår i: PloS One. - : Public Library of Science (PLoS). - 1932-6203. ; 5:7
-
Tidskriftsartikel (refereegranskat)abstract
- Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of the melatonin pathway has been reported in circadian disorders, diabetes and autism spectrum disorders (ASD). However, very little is known about the genetic variability of melatonin receptors in humans. Here, we sequenced the melatonin receptor MTNR1A and MTNR1B, genes coding for MT1 and MT2 receptors, respectively, in a large panel of 941 individuals including 295 patients with ASD, 362 controls and 284 individuals from different ethnic backgrounds. We also sequenced GPR50, coding for the orphan melatonin-related receptor GPR50 in patients and controls. We identified six non-synonymous mutations for MTNR1A and ten for MTNR1B. The majority of these variations altered receptor function. Particularly interesting mutants are MT1-I49N, which is devoid of any melatonin binding and cell surface expression, and MT1-G166E and MT1-I212T, which showed severely impaired cell surface expression. Of note, several mutants possessed pathway-selective signaling properties, some preferentially inhibiting the adenylyl cyclase pathway, others preferentially activating the MAPK pathway. The prevalence of these deleterious mutations in cases and controls indicates that they do not represent major risk factor for ASD (MTNR1A case 3.6% vs controls 4.4%; MTNR1B case 4.7% vs 3% controls). Concerning GPR50, we detected a significant association between ASD and two variations, Delta502-505 and T532A, in affected males, but it did not hold up after Bonferonni correction for multiple testing. Our results represent the first functional ascertainment of melatonin receptors in humans and constitute a basis for future structure-function studies and for interpreting genetic data on the melatonin pathway in patients.
|
|
| 7. |
- Delorme, Richard, et al.
(författare)
-
Mutation screening of NOS1AP gene in a large sample of psychiatric patients and controls.
- 2010
-
Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 11:1:108
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: The gene encoding carboxyl-terminal PDZ ligand of neuronal nitric oxide synthase (NOS1AP) is located on chromosome 1q23.3, a candidate region for schizophrenia, autism spectrum disorders (ASD) and obsessive-compulsive disorder (OCD). Previous genetic and functional studies explored the role of NOS1AP in these psychiatric conditions, but only a limited number explored the sequence variability of NOS1AP. METHODS: We analyzed the coding sequence of NOS1AP in a large population (n = 280), including patients with schizophrenia (n = 72), ASD (n = 81) or OCD (n = 34), and in healthy volunteers controlled for the absence of personal or familial history of psychiatric disorders (n = 93). RESULTS: Two non-synonymous variations, V37I and D423N were identified in two families, one with two siblings with OCD and the other with two brothers with ASD. These rare variations apparently segregate with the presence of psychiatric conditions. CONCLUSIONS: Coding variations of NOS1AP are relatively rare in patients and controls. Nevertheless, we report the first non-synonymous variations within the human NOS1AP gene that warrant further genetic and functional investigations to ascertain their roles in the susceptibility to psychiatric disorders.
|
|
| 8. |
- Konyukh, Marina, et al.
(författare)
-
Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in patients with autism spectrum disorders and in human populations.
- 2011
-
Ingår i: PLoS One. - : Public Library of Science (PLoS). - 1932-6203. ; 6:3
-
Tidskriftsartikel (refereegranskat)abstract
- Background Autism spectrum disorders (ASD) are a group of severe childhood neurodevelopmental disorders with still unknown etiology. One of the most frequently reported associations is the presence of recurrent de novo or inherited microdeletions and microduplications on chromosome 16p11.2. The analysis of rare variations of 8 candidate genes among the 27 genes located in this region suggested SEZ6L2 as a compelling candidate. Methodology/Principal Findings We further explored the role of SEZ6L2 variations by screening its coding part in a group of 452 individuals, including 170 patients with ASD and 282 individuals from different ethnic backgrounds of the Human Genome Diversity Panel (HGDP), complementing the previously reported screening. We detected 7 previously unidentified non-synonymous variations of SEZ6L2 in ASD patients. We also identified 6 non-synonymous variations present only in HGDP. When we merged our results with the previously published, no enrichment of non-synonymous variation in SEZ6L2 was observed in the ASD group compared with controls. Conclusions/Significance Our results provide an extensive ascertainment of the genetic variability of SEZ6L2 in human populations and do not support a major role for SEZ6L2 sequence variations in the susceptibility to ASD.
|
|
| 9. |
- Leblond, Claire S, et al.
(författare)
-
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
- 2012
-
Ingår i: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 8:2
-
Tidskriftsartikel (refereegranskat)abstract
- Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental disorders with a complex inheritance pattern. While many rare variants in synaptic proteins have been identified in patients with ASD, little is known about their effects at the synapse and their interactions with other genetic variations. Here, following the discovery of two de novo SHANK2 deletions by the Autism Genome Project, we identified a novel 421 kb de novo SHANK2 deletion in a patient with autism. We then sequenced SHANK2 in 455 patients with ASD and 431 controls and integrated these results with those reported by Berkel et al. 2010 (n=396 patients and n=659 controls). We observed a significant enrichment of variants affecting conserved amino acids in 29 of 851 (3.4%) patients and in 16 of 1,090 (1.5%) controls (P=0.004, OR=2.37, 95% CI=1.23-4.70). In neuronal cell cultures, the variants identified in patients were associated with a reduced synaptic density at dendrites compared to the variants only detected in controls (P=0.0013). Interestingly, the three patients with de novo SHANK2 deletions also carried inherited CNVs at 15q11-q13 previously associated with neuropsychiatric disorders. In two cases, the nicotinic receptor CHRNA7 was duplicated and in one case the synaptic translation repressor CYFIP1 was deleted. These results strengthen the role of synaptic gene dysfunction in ASD but also highlight the presence of putative modifier genes, which is in keeping with the "multiple hit model" for ASD. A better knowledge of these genetic interactions will be necessary to understand the complex inheritance pattern of ASD.
|
|
| 10. |
- Nygren, Arne, 1971, et al.
(författare)
-
Bertil Åkesson (1928-2013) obituary.
- 2014
-
Ingår i: Memoires of Museum Victoria. - 1447-2546 .- 1447-2554. ; 71, s. 343-345
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
|
|
| 11. |
- Nygren, Gudrun, 1957, et al.
(författare)
-
A new screening programme for autism in a general population of Swedish toddlers.
- 2012
-
Ingår i: Research in Developmental Disabilities. - : Elsevier BV. - 0891-4222. ; 33:4, s. 1200-1210
-
Tidskriftsartikel (refereegranskat)abstract
- The evidence from early intervention studies of autism has emphasised the need for early diagnosis. Insight into the early presentation of autism is crucial for early recognition, and routine screening can optimise the possibility for early diagnosis. General population screening was conducted for 2.5-year-old children at child health centres in Gothenburg, Sweden, and the efficacy of the screening instruments in predicting a clinical diagnosis of autism was studied. The tools used for autism screening comprised the Modified Checklist for Autism in Children (M-CHAT) and an observation made by trained nurses of the child's joint attention abilities (JA-OBS). From the new screening procedure a "definitive" suspicion of autism spectrum disorder (ASD) was raised in 64 individuals in the study population of 3999 young children. Fifty-four of these were clinically assessed in detail. Forty-eight children had a confirmed diagnosis of ASD, three had severe language disorder, and three (6%) were classified as having typical development. The Positive predictive Value (PPV) for the combination of M-CHAT and the JA-OBS was 90%. The combination of instruments used showed promise for early detection of autism as a routine in the developmental programme at child health centres. Trained medical staff is a basic requirement and enables earlier detection and the use of screening tools beyond routine population screening regardless of the age at which a suspicion of autism is raised.
|
|
| 12. |
- Nygren, Gudrun, 1957, et al.
(författare)
-
The prevalence of autism spectrum disorders in toddlers: a population study of 2-year-old Swedish children.
- 2012
-
Ingår i: Journal of Autism and Developmental Disorders. - : Springer Science and Business Media LLC. - 0162-3257 .- 1573-3432. ; 42:7, s. 1491-1497
-
Tidskriftsartikel (refereegranskat)abstract
- Autism Spectrum Disorder (ASD) is more common than previously believed. ASD is increasingly diagnosed at very young ages. We report estimated ASD prevalence rates from a population study of 2-year-old children conducted in 2010 in Gothenburg, Sweden. Screening for ASD had been introduced at all child health centers at child age 21/2 years. All children with suspected ASD were referred for evaluation to one center, serving the whole city of Gothenburg. The prevalence for all 2-year-olds referred in 2010 and diagnosed with ASD was 0.80%. Corresponding rates for 2-year-olds referred to the center in 2000 and 2005 (when no population screening occurred) were 0.18 and 0.04%. Results suggest that early screening contributes to a large increase in diagnosed ASD cases.
|
|
| 13. |
|
|
| 14. |
- Nygren, Patrik, et al.
(författare)
-
Secondary Structure in de Novo Designed Peptides Induced by Electrostatic Interaction with a Lipid Bilayer Membrane
- 2010
-
Ingår i: LANGMUIR. - : ACS American Chemical Society. - 0743-7463 .- 1520-5827. ; 26:9, s. 6437-6448
-
Tidskriftsartikel (refereegranskat)abstract
- We show that it is possible to induce a defined secondary structure in de nova designed peptides upon electrostatic attachment to negatively charged lipid bilayer vesicles without partitioning of the peptides into the membrane, and that the secondary structure can be varied via small changes in the primary amino acid sequence of the peptides. The peptides have a random-coil conformation in solution, and results from far-UV circular dichroism spectroscopy demonstrate that the structure induced by the interaction with silica nanoparticles is solely alpha-helical and also strongly pH-dependent. The present study shows that negatively charged vesicles, to which the peptides are electrostatically adsorbed via cationic amino acid residues, induce either alpha-helices or beta-sheets and that the conformation is dependent on both lipid composition and variations in peptide primary structure. The pH-dependence of the vesicle-induced peptide secondary structure is weak, which correlates well with small differences in the vesicles electrophoretic mobility, and thus the surface charge, as the pH is varied.
|
|
| 15. |
|
|
| 16. |
|
|
| 17. |
- Nygren, Thomas, 1972-, et al.
(författare)
-
Digitala primärkällor i historieundervisningen : en utmaning för elevers historiska tänkande och historiska empati
- 2014
-
Ingår i: Nordidactica. - Karlstad : CSD Karlstad. - 2000-9879. ; :2, s. 208-245
-
Tidskriftsartikel (refereegranskat)abstract
- In this study, 110 Swedish upper secondary students use a historical database designed for research. We analyze how they perceive the use of this digital tool in teaching and if they are able to use historical thinking and historical empathy in their historical writing and presentations. Using case-study methodology including questionnaires, observations, interviews and text analysis we find this to be a complex task for students. Our results highlight technological problems and problems in contextualizing historical evidence. However, students show interest in using primary sources and ability to use historical thinking and historical empathy, especially older students in more advanced courses when they have time to reflect upon the historical material.
|
|
| 18. |
- Nygren, Thomas, 1972-, et al.
(författare)
-
En splittrad historia : Sambandet mellan kursplaner i historia för gymnasieskola och högre utbildning
- 2012
-
Ingår i: Nordidactica. - Karlstad : Karlstads universitet. - 2000-9879. ; :2, s. 1-30
-
Tidskriftsartikel (refereegranskat)abstract
- This quantitative and qualitative analysis of syllabuses indicates difficulties in the relation between history teaching in upper secondary schools and in higher education. Using analytical tools stemming from research of education and history didactics we highlight problematic differences between universities. It is evident that history education in many ways lacks a progression from upper secondary school to higher education. Judging from the formulations in the syllabuses, the grading demands on the students in upper secondary schools are in some cases even higher than in the universities. The results from this study suggest a need for further analysis of the teaching of history, and other subjects, in higher education in relation to teaching in upper secondary schools.
|
|
| 19. |
- Nygren, Thomas, 1972-
(författare)
-
History in the Service of Mankind : International Guidelines and History Education in Upper Secondary Schools in Sweden, 1927–2002
- 2011
-
Doktorsavhandling (övrigt vetenskapligt/konstnärligt)abstract
- In this study the guidelines of the League of Nations, UNESCO and the Council of Europe are investigated in relation to Swedish national curricula, teachers’ perceptions of and students’ work in history, from 1927 to 2002.Inspired by John I Goodlad’s notions of curricula and implementation, the formulation of history is studied. The ideological curricula are analyzed via the international guidelines directed to Swedish history teaching. The formal curricula are examined in national guidelines and also how history is formulated in final examinations and inspectors’ reports. The perceived curricula are studied in teachers’ debates and interviews with experienced teachers. The experiential curricula are examined through looking at students’ choices of topics in final exams, 1,680 titles of students’ individual projects in history and an in-depth analysis of 145 individual projects written between 1969 and 2002.The study shows that the means and goals of history education have been formulated in both different and similar ways within and between curricular levels. On all the curricular levels studied the history subject has become more internationally oriented. After World War II national history landed in the background and the world history, favored by UNESCO, became dominant in Sweden from the 1950s onwards. Despite the fact that the Council of Europe’s Euro-centrism became more prominent in the 1994 syllabus in history, students still preferred world history over European history. International and national guidelines also stressed the value of paying heed to marginalized groups, local cultural heritage and contemporary history. These orientations were also represented in the teachers’ views of history teaching and in the students’ work in history.The results of the study suggest that the implementation of the international guidelines were more than a top-down process. During the entire period studied, guidelines have been formulated and transacted, but also reinterpreted and in some cases, ignored. Teachers and students seem to have been co-creators in the transformation of history education.History as a subject, according to the study, encompassed an ever expanding geographical area and more and more perspectives. Not least on the student level, the subject was formulated and dealt with in manifold ways, often oriented towards contemporary world history. Students’ history had great similarities with the international notion of history education in the service of mankind. Students expressed a rejection of war, an understanding of minorities and a wish to safeguard the local cultural heritage. Even if there were exceptions, students’ history appears to have been influenced by international understanding during a century filled with conflicts.
|
|
| 20. |
- Nygren, Thomas, 1972-
(författare)
-
International reformation of Swedish history education 1927–1961 : The complexity of implementing international understanding
- 2011
-
Ingår i: Journal of world history. - : Project Muse. - 1045-6007 .- 1527-8050. ; 22:2, s. 329-354
-
Tidskriftsartikel (refereegranskat)abstract
- This study shows how the international efforts for reforming history teaching, by the League of Nations, UNESCO and the Council of Europe, were both neglected and implemented, prior to and after the Second World War. International intentions towards international understanding and away from nationalism, were transferred, interpreted and also influenced by teachers’ and students’ views of history. International understanding and non-European history–but not intercultural history–became a dominant line in the Swedish curriculum in a complex top-down and bottom-up process.
|
|
| 21. |
- Nygren, Thomas, 1972-
(författare)
-
Students Writing History Using Traditional and Digital Archives
- 2014
-
Ingår i: Human IT. - Borås : Högskolan i Borås. - 1402-1501 .- 1402-151X. ; 12:3, s. 78-116
-
Tidskriftsartikel (refereegranskat)abstract
- This study shows that upper secondary students’ historical writing maybe influenced by their use of sources from traditional archives versus theiruse of digital sources in databases. A qualitative approach, theoreticalperspectives, and historical empathy seem to be stimulated primarily byusing traditional archives and print sources, while digital archives andsources, in contrast, stimulate the use of quantitative data and a moresocial scientific approach. The results indicate a historiographical shift instudents’ historical thinking, which researchers of history education needto consider in a digital era. The results of this study call for reflections inhistory teaching to make it possible for students to learn and experiencethe double nature of history as part of the humanities and social sciences
|
|
| 22. |
- Nygren, Thomas, 1972-
(författare)
-
The Contemporary Turn : Debate, Curricula and Swedish Students’ History
- 2012
-
Ingår i: Journal of Educational Media, Memory, and Society. - : Berghahn Journals. - 2041-6938 .- 2041-6946. ; 4:1, s. 40-60
-
Tidskriftsartikel (refereegranskat)abstract
- In the Swedish media during 2010 a proposal for a new syllabus for history was criticized for emphasizing contemporary history at the expense of ancient history. The present study shows how UNESCO and the Council of Europe’s guidelines, like the national curriculum and guidelines and students’ work since the 1950s, have increasingly focused on contemporary history. In the 1930s graduating students chose to focus mainly on the early modern era, but from 1950 contemporary history became more and more dominant in students’ work. Even though history and civics were given separate status as school subjects in 1961, students’ work in history continued to focus contemporary subjects. This study shows that the dominance of contemporary history in students’ history is by no means a new phenomenon.
|
|
| 23. |
- Nygren, Thomas, et al.
(författare)
-
The status quo of digital humanities in Sweden : past, present and future of digital history
- 2014
-
Ingår i: H-Soz-Kult. - Humboldt-Universität zu Berlin. - 2196-5307.
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- A current Swedish review of digital history claims that research in digital history in Sweden is almost absent.[1] This statement must naturally be considered in the light of how the field is defined, and in this article we choose a broad definition consisting of the aggregate domain of studies in which digital material and tools are used to study the past. Digital history is without a doubt a more active field in English-speaking academic settings, but there are a number of well-established projects and initiatives in Sweden. The case studies presented in this article are cross-disciplinary and might therefore not define themselves as strictly (or solely) digital history. This may, however, be irrelevant in the post-disciplinary context.The digitization of historical source material has increasingly compelled Swedish historians to navigate in digital environments. This increased accessibility and the capacity for digitally processing historical material hold great potential for empowering research. While on the one hand, considerable growth can be expected in the coming years as technology becomes more accessible, user-friendly and domain science orientated [2], on the other hand, the expansion of digital archives and the development of digital tools are already posing new challenges for historians. Knowledge and understanding of digital media needs to be augmented considerably in order to fully take advantage of contemporary research opportunities and challenges. This essay will discuss how the creation of data and the use of new digital tools might support a variety of types of historical research, primarily by looking at developments in digital humanities (hereon DH) and digital archaeology. The variegated realm of DH practices, with their background in humanities computing and computing linguistics, will be used as a point of departure. Internationally, DH often uses the concept of labs to describe environments designed for the use of data and tools in interdisciplinary research.[3] Centres of DH have primarily been created in the USA and, more recently, in Europe.While on-going research in multiple fields, using digital data and tools, is contributing important new knowledge and developing infrastructures which are advancing the study of history; there is, of course, considerable room for improvement, both in terms of the efficiency of the tools and the scope of their application. This article will present two Swedish examples of interdisciplinary and collaborative lab spaces which are currently involved in research on the past. The more disciplinary practices of digital archaeology and digital history will also be examined in order to flag out current historically orientated research which may fall under the umbrella of DH. The essay will conclude by discussing some potential future directions.
|
|
| 24. |
|
|
| 25. |
- Nygren, Thomas, 1972-, et al.
(författare)
-
Treading old paths in new ways : upper secondary students using a digital tool of the professional historian
- 2013
-
Ingår i: Education Sciences. - Basel : MDPI. - 2227-7102. ; 3, s. 50-73
-
Tidskriftsartikel (refereegranskat)abstract
- This article presents problems and possibilities associated with incorporating into history teaching a digital demographic database made for professional historians. We detect and discuss the outcome of how students in Swedish upper secondary schools respond to a teaching approach involving digitized registers comprising 19th century individuals and populations. Even though our results demonstrate that students experience the use of this digital database as messy, stressful, complicated, even meaningless and frustrating, they also perceive working with it as most interesting. We discuss this twofold outcome, its reasons and lessons to learn from it. When technology is functioning and the task is specialized and sufficiently guided by the teacher, which is not always the case, our results propose that digital databases can stimulate young people’s interest and historical thinking. Knowledge construction based upon historical thinking is evident in the students’ examination papers in which they present and debate their findings. These papers indicate that students can use a digital database and write history based upon empirical evidence, source criticism and historical empathy, just as professional historians do.
|
|
| 26. |
- Nygren, Thomas, 1972-
(författare)
-
UNESCO and Council of Europe Guidelines, and History Education in Sweden, c. 1960-2002
- 2011
-
Ingår i: Education Inquiry. - Umeå : Umeå University. - 2000-4508. ; 2:1, s. 37-60
-
Tidskriftsartikel (refereegranskat)abstract
- In this study, international recommendations for history education issued by UNESCO and the Council of Europe are compared with the construing of history in national guidelines, teachers’ perceptions and the results of students’ work in history in Sweden. The study shows how history education from the 1960s onwards could be critical and oriented towards minorities in a global world, clearly in line with the recommendations of UNESCO. International understanding, unity in diversity and safeguarding the local heritage in many ways became part of students’ historical consciousness.
|
|
| 27. |
|
|
| 28. |
- Sandberg, Karin, 1981-
(författare)
-
Möte med det förflutna : digitaliserade primärkällor i historieundervisningen
- 2014
-
Licentiatavhandling (övrigt vetenskapligt/konstnärligt)abstract
- In recent years, the Swedish educational system has undergone considerable change. A new curriculum and swift digitization via the implementation of the "one-to-one" system have increased the call for new teaching methods in schools. Previous research indicates that working with primary sources can enhance students’ historical thinking and historical empathy. The present licentiate dissertation aims to investigate Swedish upper secondary school students’ use of critical thinking and historical empathy when utilizing digitized primary sources, such as the parish registers stored in the Demographic Data Base at Umeå University. Five classes in grades 1-3, comprising 110 students, in the ages 16 to 19, and three teachers participated in the study. The students were assigned with compiling a report based on the digitised primary source material and presenting their findings in a written paper or oral presentation. The study was evaluated through (1) interviews with students and teachers, (2) classroom observation of the students while working with the material, (3) questionnaires on the students´ view of history, and (4) the completed assignments. The study shows that all the students achieved some result based on the information found in the digitised primary sources. While they applied historical empathy and historical thinking, it was mixed with presentism. The majority did not make use of corroboration, but those who did displayed more examples of historical thinking and historical empathy, primarily evident in grades 2 and 3 and in the free discussions held after the presentations. The students’ perception of primary sources shifted as a result of this exercise: Their preference for using primary sources had increased, although their trust in primary sources had simultaneously decreased. Teachers and students alike were generally satisfied with the assignment but argued that the database needed improvement in order to enhance its usefulness. Over the course of the assignment, students frequently expressed that the individuals in the digitized material came to life for them, generating feelings of empathy. The study’s contribution to history didactics is twofold. First, it clearly demonstrates how upper secondary students can make use of historical thinking and historical empathy when studying digitised parish records, even though they have difficulty contextualizing their results. Secondly, it provides insight into how Swedish students learn history and the kind of history that interests them. The results are predominantly in agreement with those from previous studies but this study is pioneering in basing its findings on primary sources that are digitised.
|
|
| 29. |
- Scheid, Isabelle, et al.
(författare)
-
Heterozygous FA2H mutations in autism spectrum disorders
- 2013
-
Ingår i: BMC Medical Genetics. - : Springer Science and Business Media LLC. - 1471-2350. ; 14
-
Tidskriftsartikel (refereegranskat)abstract
- Background Widespread abnormalities in white matter development are frequently reported in cases of autism spectrum disorders (ASD) and could be involved in the disconnectivity suggested in these disorders. Homozygous mutations in the gene coding for fatty-acid 2-hydroxylase (FA2H), an enzyme involved in myelin synthesis, are associated with complex leukodystrophies, but little is known about the functional impact of heterozygous FA2H mutations. We hypothesized that rare deleterious heterozygous mutations of FA2H might constitute risk factors for ASD. Methods We searched deleterious mutations affecting FA2H, by genotyping 1256 independent patients with ASD genotyped using Genome Wide SNP arrays, and also by sequencing in independent set of 186 subjects with ASD and 353 controls. We then explored the impact of the identified mutations by measuring FA2H enzymatic activity and expression, in transfected COS7 cells. Results One heterozygous deletion within 16q22.3-q23.1 including FA2H was observed in two siblings who share symptoms of autism and severe cognitive impairment, axial T2-FLAIR weighted MRI posterior periventricular white matter lesions. Also, two rare non-synonymous mutations (R113W and R113Q) were reported. Although predictive models suggested that R113W should be a deleterious, we did not find that FA2H activity was affected by expression of the R113W mutation in cultured COS cells. Conclusions While our results do not support a major role for FA2H coding variants in ASD, a screening of other genes related to myelin synthesis would allow us to better understand the role of non-neuronal elements in ASD susceptibility.
|
|
| 30. |
|
|
| 31. |
|
|
