Benedicte Paus

• Seim, Bjørn Edvard; Holt, Margrethe Flesvig; Ratajska, Aleksandra; Michelsen, Annika Elisabet; Ringseth, Monica Myklebust & Halvorsen, Bente [Show all 14 contributors for this article] (2022). Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases. Frontiers in Cardiovascular Medicine. ISSN 2297-055X. 9, p. 1–9. doi: 10.3389/fcvm.2022.1073069. Full text in Research Archive
• Ratajska, Aleksandra; Vigeland, Magnus Dehli; Wirgenes, Katrine Verena; Krohg-Sørensen, Kirsten & Paus, Benedicte (2022). The use of segregation analysis in interpretation of sequence variants in SMAD3: A case report. Molecular Genetics & Genomic Medicine. ISSN 2324-9269. doi: 10.1002/mgg3.2107. Full text in Research Archive
• Gjersvik, Petter & Paus, Benedicte (2021). Mutasjoner som endrer proteinets funksjon. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 141(12), p. 1–4. doi: 10.4045/tidsskr.21.0377.
• Henriksen, Mari Wold; Breck, Hilde; Sejersted, Yngve; Diseth, Trond H; von Tetzchner, Stephen & Paus, Benedicte [Show all 7 contributors for this article] (2020). Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome. Brain & development (Tokyo. 1979). ISSN 0387-7604. 42(7), p. 484–495. doi: 10.1016/j.braindev.2020.03.008. Full text in Research Archive Show summary

  Background and purpose: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations. Methods: All available females diagnosed with RTT in Norway were invited to the study. Parents were interviewed, the girl or woman with RTT examined and medical records reviewed. All diagnoses were revisited according to the current diagnostic criteria and exome-based sequencing analyses were performed in individuals without an identified causative mutation. Participants were categorized according to genotypes and RTT diagnosis. Individuals with RTT with and without mutations in MECP2 were compared. Results: Ninety-one individuals were included. A presumed causative mutation was identified in 86 individuals, of these, mutations in MECP2 in 77 individuals and mutations in SMC1A, SYNGAP1, SCN1A, CDKL5, FOXG1 or chromosome 13q in nine. Seventy-two individuals fulfilled the diagnostic criteria for classic and 12 for atypical RTT. Significant differences in early development, loss of hand use and language, intense eye gaze and the presence of early onset epilepsy were revealed in individuals with RTT according to their MECP2 genotypic status. Conclusion: Using the current diagnostic criteria, genetic and clinical variation in RTT is considerable. Significant differences between individuals with RTT with and without MECP2 mutations indicate that MECP2 is a major determinant for the clinical phenotype in individuals with RTT. Keywords: Clinical phenotype; Epilepsy; Exome sequencing; Genetic variation; MECP2; Rett syndrome.

• Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte & Skjeldal, Ola, Hunsbeth (2020). Medical Issues in Adults with Rett Syndrome - A National Survey. Developmental Neurorehabilitation. ISSN 1751-8423. 23(2), p. 106–112. doi: 10.1080/17518423.2019.1646341. Show summary

  Objectives: To examine main health issues in a population of females with Rett syndrome, with a focus on individuals aged 36 or older. Methods: A national survey including 85 females, divided into a younger (1-20 years), a middle (21-35 years) and an older group (36-66 years). Data include clinical examination, medical records and parental interviews. Prevalences of six main medical issues (scoliosis, ambulation, growth, respiration, gastrointestinal dysmobility and epilepsy) and severity scores in the three groups were compared. Results: Mean severity scores were 11.8, 15.1 and 13.7 (from younger to older), and the difference between the younger and the middle group was significant. No other major significant prevalence differences were observed. Conclusions: Most main medical issues in Rett syndrome continued to be a major concern in adulthood, but health did not seem to decline with increasing age. The results emphasize the need for clinical follow-up throughout adulthood. Keywords: Rett syndrome; adulthood; ageing; clinical management; morbidity.

• Vanem, Thy Thy; Böker, Tordis; Sandvik, Gunhild Falleth; Kirkhus, Eva Astrid; Smith, Hans-Jørgen & Andersen, Kai [Show all 13 contributors for this article] (2019). Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study. American Journal of Medical Genetics. Part A. ISSN 1552-4825. 182(2), p. 397–408. doi: 10.1002/ajmg.a.61441. Full text in Research Archive
• Pope, Marita Knudsen; Ratajska, Aleksandra; Johnsen, Hilde; Rypdal, Karoline Bjarnesdatter; Sejersted, Yngve & Paus, Benedicte (2019). Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing. Genetic Testing and Molecular Biomarkers. ISSN 1945-0265. 23(11), p. 783–790. doi: 10.1089/gtmb.2019.0064. Full text in Research Archive Show summary

  Aims: This quality analysis study was designed to review the indications, reports, and clinical consequences of 438 diagnostic next-generation sequencing (NGS) gene panel analyses for hereditary connective tissue disorders (HCTD). Methods: Molecular analyses were retrieved from laboratory databases and patient records, and compared to the clinical information in the requisition and classified according to the Human Phenotype Ontology. Results: In 123 of 438 NGS analyses, 156 sequence variants were reported in 33 of 54 genes analyzed. NGS analyses and, in some cases, postanalytic assessment resulted in identification of pathogenic variants in 40 (9%) of patients, and variants of uncertain significance were identified in 83 (19%) of cases analyzed. While cardiovascular abnormalities were the most common phenotype noted in the requisitions, no specific organ system could be identified in which the reported symptoms provided an actionable indication for the analysis. Certain health issues recorded in the patients’ records were found to be frequently left out of requisitions. Conclusions: The interpretation of genetic sequence variants continues to be a significant challenge in HCTD. Although not associated with the highest diagnostic yield, cardiovascular disease and family history may be suitable indications for NGS due to the clinical consequences of the identification of a known or likely causative sequence variant for a vascular HCTD in patients and relatives.

• Böker, Tordis; Vanem, Thy Thy; Pripp, Are Hugo; Rand-Hendriksen, Svend; Paus, Benedicte & Smith, Hans-Jørgen [Show all 7 contributors for this article] (2019). Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. The spine journal. ISSN 1529-9430. 19(8), p. 1412–1421. doi: 10.1016/j.spinee.2019.04.010. Full text in Research Archive
• Paus, Benedicte (2018). Kanskje teste, ofte utrede, alltid veilede. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 138(13), p. 1–3. doi: 10.4045/tidsskr.18.0574.
• Vanem, Thy Thy; Geiran, Odd; Krohg-Sørensen, Kirsten; Røe, Cecilie; Paus, Benedicte & Rand-Hendriksen, Svend (2018). Survival, causes of death, and cardiovascular events in patients with Marfan syndrome. Molecular Genetics & Genomic Medicine. ISSN 2324-9269. 6(6), p. 1114–1123. doi: 10.1002/mgg3.489. Full text in Research Archive
• Henriksen, Mari Wold; Ravn, Kirstine; Paus, Benedicte; von Tetzchner, Stephen & Skjeldal, Ola (2018). De novo mutations in SCN1A are associated with classic Rett syndrome: A case report. BMC Medical Genetics. ISSN 1471-2350. 19(184), p. 1–5. doi: 10.1186/s12881-018-0700-z. Full text in Research Archive
• Riise, Nina; Lindberg, Bjørn; Kulseth, Mari Ann; Fredwall, Svein Otto; Lundby, Rigmor & Estensen, Mette-Lise [Show all 10 contributors for this article] (2018). Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. BMC Medical Genetics. ISSN 1471-2350. 19(155), p. 1–7. doi: 10.1186/s12881-018-0671-0. Full text in Research Archive
• Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola & Brodtkorb, Eylert (2018). Epilepsy in classic Rett syndrome: Course and characteristics in adult age. Epilepsy Research. ISSN 0920-1211. 145, p. 134–139. doi: 10.1016/j.eplepsyres.2018.06.012. Full text in Research Archive
• Krohg-Sørensen, Kirsten; Lingaas, Per Snorre; Lundblad, Runar; Seem, Egil; Paus, Benedicte & Geiran, Odd (2017). Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. Journal of Cardiothoracic Surgery. ISSN 1749-8090. 52(6), p. 1125–1131. doi: 10.1093/ejcts/ezx147.
• Nordstrøm, Marianne; Paus, Benedicte; Retterstøl, Kjetil & Kolset, Svein Olav (2016). The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader–Willi syndrome, and Down syndrome. Journal of Intellectual & Developmental Disability. ISSN 1366-8250. 41(3), p. 187–196. doi: 10.3109/13668250.2016.1167845.
• Tjeldhorn, Lena; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd & Frengen, Eirik [Show all 7 contributors for this article] (2015). Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome. BMC Medical Genetics. ISSN 1471-2350. 16(113). doi: 10.1186/s12881-015-0260-4.
• Nordstrøm, Marianne; Paus, Benedicte; Andersen, Lene Frost & Kolset, Svein Olav (2015). Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader - Willi syndrome :. Food & Nutrition Research (FNR). ISSN 1654-6628. 59(25847). doi: 10.3402/fnr.v59.25487.
• Abrahamsen, Bjørg Johanne; Kulseth, Mari Ann & Paus, Benedicte (2015). A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular ehlers-danlos syndrome and a novel missense mutation in COL3A1. Chest. ISSN 0012-3692. 147(5), p. e166–e170. doi: 10.1378/chest.13-3002.
• Drolsum, Liv; Rand-Hendriksen, Svend; Paus, Benedicte; Geiran, Odd & Semb, Svein Ove (2015). Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome. Acta Ophthalmologica. ISSN 1755-375X. 93(1), p. 46–53. doi: 10.1111/aos.12448. Full text in Research Archive
• Nordstrøm, Marianne; Hansen, Bjørge Hermann; Paus, Benedicte & Kolset, Svein Olav (2013). Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome. Research in Developmental Disabilities. ISSN 0891-4222. 34(12), p. 4395–4403. doi: 10.1016/j.ridd.2013.09.021.

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• Bratlie, Sigrid; Halvorsen, Kristin; Myskja, Bjørn Kåre; Mellegård, Hilde; Bjorvatn, Cathrine & Frost, Petter [Show all 19 contributors for this article] (2019). A novel governance framework for GMO : a tiered, more flexible regulation for GMOs would help to stimulate innovation and public debate. EMBO Reports. ISSN 1469-221X. 20(5), p. 1–4. doi: 10.15252/embr.201947812. Full text in Research Archive
• Paus, Benedicte (2018). B. Paus svarer. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 138(16), p. 1502–1503. doi: 10.4045/tidsskr.18.0735.
• Paus, Benedicte (2018). Kanskje teste, ofte utrede, alltid veilede. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 138(13), p. 1211–1211.

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