| 1. |
- Christesen, Henrik Thybo, et al.
(author)
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Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism
- 2020
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In: European Journal of Medical Genetics. - : Elsevier BV. - 1769-7212 .- 1878-0849. ; 63:1
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Journal article (peer-reviewed)abstract
- Mosaic genome-wide paternal uniparental disomy (GW-pUPD) is a rarely recognised disorder. The phenotypic manifestations of multilocus imprinting defects (MLIDs) remain unclear. We report of an apparently non-syndromic infant with severe congenital hyperinsulinism (CHI) and diffuse pancreatic labelling by 18F*-DOPA-PET/CT leading to near-total pancreatectomy. The histology was atypical with pronounced proliferation of endocrine cells comprising >70% of the pancreatic tissue and a small pancreatoblastoma. Routine genetic analysis for CHI was normal in the blood and resected pancreatic tissue. At two years’ age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular hyperplasia and an adrenal tumour were resected. pUPD was detected in 11p15 and next in the entire chromosome 11 with microsatellite markers. Quantitative fluorescent PCR with amplification of chromosome-specific DNA sequences for chromosomes 13, 18, 21 and X indicated GW-pUPD. A next generation sequencing panel with 303 SNPs on 21 chromosomes showed pUPD in both blood and pancreatic tissue. The mosaic distribution of GW-pUPD ranged from 31 to 35% in blood and buccal swap to 74% in the resected pancreas, 80% in a non-tumour liver biopsy, and 100% in the liver focal nodular hyperplasia and adrenal tumour. MLID features included transient conjugated hyperbilirubinaemia and lack of macrosomia from BWS (pUPD6); and behavioural and psychomotor manifestations of Angelman Syndrome (pUPD15) on follow-up. In conclusion, atypical pancreatic histology in apparently non-syndromic severe CHI patients may be the first clue to BWS and multi-syndromal CHI from GW-pUPD. Variations in the degree of mosaicism between tissues explained the phenotype.
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| 2. |
- Danielsson, Henrik, Professor, 1974-
(author)
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Randomiserade kontrollerade studier av interventionsprogram för elever med tidiga läs- och matematiksvårigheter
- 2023
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In: Resultatdialog 2023. - : Vetenskapsrådet. - 9789189845107 ; , s. 15-18
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Book chapter (other academic/artistic)abstract
- Forskningens syfte var att utveckla och utvärdera två interventioner för elever med tidiga lässvårigheter eller tidiga mattesvårigheter. Resultaten visade att bägge interventionerna hade en medelstor till stor effekt på förbättring för interventionsgrupperna direkt efter interventionerna. Ett år efter interventionerna hade de flesta av de positiva effekterna minskat till ungefär hälften.
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| 3. |
- Johansson, Johas, et al.
(author)
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Tekniska Infrastruktures sårbarhet
- 2010
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In: FRIVA - risk, sårbarhet och förmåga. - 9789163376917 ; , s. 111-128
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Book chapter (other academic/artistic)
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| 4. |
- Lindström-Sandahl, Hanna, 1979-, et al.
(author)
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A randomized controlled study of a second grade numeracy intervention with Swedish students at‐risk of mathematics difficulties
- 2024
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In: British Journal of Educational Psychology. - : Wiley. - 0007-0998 .- 2044-8279.
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Journal article (peer-reviewed)abstract
- Background: Early numeracy interventions including basicarithmetic are crucial for young students at risk for earlymathematics difficulties (MDs), yet few studies have evalu-ated numeracy interventions in second grade with a rand-omized controlled design.Aim: This pre- and post-test randomized controlled studyevaluated the effects of an intensive 9-week numeracy andarithmetic programme for second-grade students at risk forearly MDs. The focus of the programme was students’ foun-dational understanding of numbers and mathematical con-cepts and procedural fluency with arithmetic tasks.Sample: A total of 753 first-grade students from 21 schoolsin Sweden were screened for low achievement in numberknowledge and arithmetic.Methods: Students considered at risk for MDs (≤25 per-centile on two consecutive first-grade mathematics screen-ings) were individually randomized to an intervention group(n = 32) or control group (n = 30) at the beginning of secondgrade (7–8 years old). Trained teachers administered theone-to-one, explicit programme to intervention group stu-dents in elementary school settings. The intervention groupreceived numeracy instruction emphasizing foundationalmathematics concepts and procedures. Controls receivedteaching as usual with potential special education supportprovided by their schools.Results: The intervention group demonstrated significantlygreater improvements in conceptual knowledge, arithmeticcalculations and problem-solving compared to the controlgroup, with medium size effects observed.
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| 5. |
- Lindström-Sandahl, Hanna, 1979-
(author)
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Early Elementary School Interventions in Reading and Mathematics
- 2024
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Doctoral thesis (other academic/artistic)abstract
- Supplemental special education support in reading and mathematics is essential for some children who struggle to learn basic reading or mathematics skills in their first years of schooling. Previous research shows that supplemental phonics and early numeracy and arithmetic instruction help students at risk for reading or mathematics difficulties. Few intervention studies have been conducted in the Swedish elementary school context evaluating the effectiveness of early reading and mathematics instruction, limiting evidence-based practices guiding special education in Sweden. This thesis aimed to develop and test the impact of two intensive instructional programs on word reading and reading comprehension skills and number knowledge, arithmetic and problem solving. Transfer-effects of training across the reading and mathematics domains and the long-term impact of the programs were also investigated. The study enrolled 753 first grade students who were screened for low performance (≤25th percentile) in decoding, spelling, number knowledge and arithmetic. To evaluate how the impact of the interventions differ from regular school instruction, students were randomized to intervention and control groups and pre-tested with extended assessment of reading and mathematics skills (n=32 vs. 30 in mathematics, n=34 vs. 34 in reading). Both interventions were implemented at the start of second grade. The intervention programs spanned 36 lessons of supplemental explicit, one-to-one instruction with a special education teacher. Control group students received support planned by their schools. The results were evaluated at post-test and followed-up after 1 year. Both programs indicated significant intervention effects at post-test compared with controls with the reading intervention showing medium impact on decoding and reading comprehension and a strong effect on word recognition. The mathematics intervention program displayed significant moderate impact on number knowledge, arithmetic and basic problem solving. For both interventions, these effects declined at follow-up one year later. In addition, no transfer across reading and mathematics interventions were found. A main conclusion drawn from these randomized controlled studies is that students’ performance in basic reading and mathematics can be substantially accelerated by a time-limited and intense effort, adding to the evidence-base of explicit phonics and early numeracy and arithmetic intervention as recommended practices also in a Swedish school context. As many previous studies have shown, intervention gains tend to fade over time. The longevity of intensive intervention impacts should be considered in post-intervention efforts to support learning. Alignment between supplemental programs and general classroom instruction is suggested.
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| 6. |
- Andreasson, M., et al.
(author)
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Parkinson's disease with restless legs syndrome-an in vivo corneal confocal microscopy study
- 2021
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In: npj Parkinson's Disease. - : Springer Science and Business Media LLC. - 2373-8057. ; 7:1
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Journal article (peer-reviewed)abstract
- Small fiber neuropathy (SFN) has been suggested as a trigger of restless legs syndrome (RLS). An increased prevalence of peripheral neuropathy has been demonstrated in Parkinson's disease (PD). We aimed to investigate, in a cross-sectional manner, whether SFN is overrepresented in PD patients with concurrent RLS relative to PD patients without RLS, using in vivo corneal confocal microscopy (IVCCM) and quantitative sensory testing (QST) as part of small fiber assessment. Study participants comprised of age- and sex-matched PD patients with (n = 21) and without RLS (n = 21), and controls (n = 13). Diagnosis of RLS was consolidated with the sensory suggested immobilization test. Assessments included nerve conduction studies (NCS), Utah Early Neuropathy Scale (UENS), QST, and IVCCM, with automated determination of corneal nerve fiber length (CNFL) and branch density (CNBD) from wide-area mosaics of the subbasal nerve plexus. Plasma neurofilament light (p-NfL) was determined as a measure of axonal degeneration. No significant differences were found between groups when comparing CNFL (p = 0.81), CNBD (p = 0.92), NCS (p = 0.82), and QST (minimum p = 0.54). UENS scores, however, differed significantly (p = 0.001), with post-hoc pairwise testing revealing higher scores in both PD groups relative to controls (p = 0.018 and p = 0.001). Analysis of all PD patients (n = 42) revealed a correlation between the duration of l-dopa therapy and CNBD (rho = -0.36, p = 0.022), and p-NfL correlated with UENS (rho = 0.35, p = 0.026) and NCS (rho = -0.51, p = 0.001). Small and large fiber neuropathy do not appear to be associated with RLS in PD. Whether peripheral small and/or large fiber pathology associates with central neurodegeneration in PD merits further longitudinal studies.
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| 7. |
- Beck, Ingela, et al.
(author)
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Translation and cultural adaptation of the integrated palliative care outcome scale for use in Sweden
- 2016
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In: Palliative Medicine.
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Conference paper (other academic/artistic)abstract
- Background: Patient-reported outcome measurements are important for measuring changes in patients’ health over time, evaluating the quality of care given, and improving the quality of care service. The Integrated Palliative care Outcome Scale (IPOS) is one such measure, capturing clinically important physical, psychological, social, and existential aspects of patients’ palliative care needs. When patients are unable to complete the IPOS questionnaire themselves with or without assistance, a staff version is also available.Aim: To translate and culturally adapt the IPOS Patient and Staff versions for use in the Swedish context.Method: The process comprised forward and backward translations, cultural adaptation, and expert group reviews. To validate the resulting Swedish version of IPOS, cognitive interviews were conducted with 13 patients and 15 staff from various care contexts.Preliminary results: The Swedish expert group changed some words and grammar due to minor discrepancies in the back translation process. The participants in the cognitive interviews responded positively overall to the questionnaire. Deteriorating health and not having Swedish as the native language did not cause problems in completing the questionnaire. After the first round of cognitive interviews, problematic questions and answer options were rephrased, and redundant text was deleted.Conclusion: The Swedish IPOS (Patient and Staff versions) has been validated linguistically and culturally, and is now available for clinical use. The next final step in the validation process will be to test the psychometric performance of the Swedish questionnaires.
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| 8. |
- Beck, Ingela, et al.
(author)
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Translation and cultural adaptation of the integrated palliative care outcome scale for use in Sweden
- 2016
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In: Palliative Medicine. - : SAGE Publications. - 0269-2163 .- 1477-030X.
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Conference paper (other academic/artistic)abstract
- Background: Patient-reported outcome measurements are important for measuring changes in patients’ health over time, evaluating the quality of care given, and improving the quality of care service. The Integrated Palliative care Outcome Scale (IPOS) is one such measure, capturing clinically important physical, psychological, social, and existential aspects of patients’ palliative care needs. When patients are unable to complete the IPOS questionnaire themselves with or without assistance, a staff version is also available. Aim: To translate and culturally adapt the IPOS Patient and Staff versions for use in the Swedish context. Method: The process comprised forward and backward translations, cultural adaptation, and expert group reviews. To validate the resulting Swedish version of IPOS, cognitive interviews were conducted with 13 patients and 15 staff from various care contexts. Preliminary results: The Swedish expert group changed some words and grammar due to minor discrepancies in the back translation process. The participants in the cognitive interviews responded positively overall to the questionnaire. Deteriorating health and not having Swedish as the native language did not cause problems in completing the questionnaire. After the first round of cognitive interviews, problematic questions and answer options were rephrased, and redundant text was deleted. Conclusion: The Swedish IPOS (Patient and Staff versions) has been validated linguistically and culturally, and is now available for clinical use. The next final step in the validation process will be to test the psychometric performance of the Swedish questionnaires.
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| 9. |
- Beck, Ingela, et al.
(author)
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Translation and cultural adaptation of the Integrated Palliative care Outcome Scale including cognitive interviewing with patients and staff
- 2017
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In: BMC Palliative Care. - : Springer Science and Business Media LLC. - 1472-684X. ; 16:1
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Journal article (peer-reviewed)abstract
- BACKGROUND: To expand our clinical and scientific knowledge about holistic outcomes within palliative care, there is a need for agreed-upon patient-reported outcome measures. These patient-reported outcome measures then require translation and cultural adaptation, either from country-specific languages to English, or the other way around. The aim of this study was to translate and cross-culturally adapt the Integrated Palliative care Outcome Scale (IPOS) to the Swedish care context.METHODS: Swedish versions of IPOS Patient and IPOS Staff were developed and culturally adapted using recommended guidelines including cognitive interviews with patients (n = 13) and staff (n = 15) from different care contexts including general and specialised palliative care.RESULTS: The comprehension and judgement difficulties identified in the pre-final patient and staff versions were successfully solved during the cognitive interviewing process. IPOS was well accepted by both patients and staff, none of the questions were experienced as inappropriate, and all questions were judged important.CONCLUSIONS: In this study, we translated and culturally adapted the patient and staff versions of IPOS, and demonstrated face and content validity and acceptability of the scale through cognitive interviewing with patients and staff within residential care facility, surgical and specialised palliative home care units. Cognitive interviewing in parallel with patients and staff in rounds, with tentative analysis in between, was a suitable method for identifying and solving challenges with comprehension and evaluation in the pre-final version of IPOS. The Swedish IPOS is now available for use in a variety of clinical care settings.
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| 10. |
- Bergh, Christina, 1953, et al.
(author)
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Regionalt HTA-arbete kan ge bra genomslag i vården. Goda exempel från Västra Götaland : [Regional HTA work can have a good impact on health care. Good examples form Vastra Gotaland].
- 2010
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In: Läkartidningen. - 0023-7205. ; 107:29-31, s. 1780-1783
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Journal article (peer-reviewed)abstract
- HTA (health technology assessment) innebär en systematisk granskning av det vetenskapliga underlaget för en viss teknik. Ett väl definierat PICO (patients, intervention, comparison, outcome) är en grundförutsättning för att få fram den dokumentation som ska granskas. En fokuserad fråga är central i HTA-processen. En teknik granskas med avseende på effektivitet och risker, etiska och organisatoriska aspekter samt kostnader. I en systematisk litteraturöversikt granskas vetenskapliga artiklar med avseende på kvalitet och relevans. Slutsatserna evidensgraderas enligt GRADE. I Västra Götalandsregionen har inrättats ett HTA-centrum som arbetar med regional medicinsk utvärdering. Regionalt HTA-arbete har flera fördelar; en är att den praktiska omsättningen av de nyvunna kunskaperna troligen kan ske snabbare.
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