New treatments for children with achondroplasia

Authors: Savarirayan, Ravi ^*, Hoover-Fong, Julie, Yap, Patrick, Fredwall, Svein O

Source: In The Lancet Child & Adolescent Health April 2024 8(4):301-310

A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasia

Authors: Billich, Natassja, O’Brien, Katie, Fredwall, Svein O., Lee, Michelle, Savarirayan, Ravi, Davidson, Zoe E.

Source: In Genetics in Medicine October 2023 25(10)

Cardiovascular risk factors and body composition in adults with achondroplasia

Authors: Fredwall, Svein O., Linge, Jennifer, Leinhard, Olof Dahlqvist, Kjønigsen, Lisa, Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Lidal, Ingeborg Beate, Månum, Grethe, Savarirayan, Ravi, Tonstad, Serena

Source: In Genetics in Medicine April 2021 23(4):732-739

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.

Authors: Fredwall, Svein O.^1,2 (AUTHOR) svfred@sunnaas.no, Linge, Jennifer^3,4 (AUTHOR), de Vries, Olga¹ (AUTHOR), Leinhard, Olof Dahlqvist^3,4,5 (AUTHOR), Eggesbø, Heidi Beate⁶ (AUTHOR), Weedon-Fekjær, Harald⁷ (AUTHOR), Petersson, Mikael³ (AUTHOR), Widholm, Per^3,5,8 (AUTHOR), Månum, Grethe⁹ (AUTHOR), Savarirayan, Ravi¹⁰ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 2/22/2023, Vol. 18 Issue 1, p1-12. 12p.

Subject Terms: *SPINAL stenosis, *PHYSICAL mobility, *ACHONDROPLASIA, *PHYSICAL activity, *FAT, *MUSCLES, *THIGH

Current knowledge of medical complications in adults with achondroplasia: A scoping review

Authors: Fredwall, Svein O., Maanum, Grethe, Johansen, Heidi, Snekkevik, Hildegun, Savarirayan, Ravi, Lidal, Ingeborg B.

Source: Clinical genetics. 97(1):179-197

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100102898066.0x000001&indx=1&recIds=ETOCvdc_100102898066.0x000001

Anthropometrics, diet, and resting energy expenditure in Norwegian adults with achondroplasia

Authors: Madsen, Andrea, Fredwall, Svein O., Maanum, Grethe, Henriksen, Christine, Slettahjell, Hanne B.

Source: American journal of medical genetics.Part A. 179(9):1745-1755

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087162216.0x000001&indx=1&recIds=ETOCvdc_100087162216.0x000001

Hearing loss in Norwegian adults with achondroplasia.

Authors: Fredwall, Svein O.^1,2 (AUTHOR) svfred@sunnaas.no, Åberg, Björn³ (AUTHOR), Berdal, Hanne³ (AUTHOR), Savarirayan, Ravi⁴ (AUTHOR), Solheim, Jorunn³ (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 11/4/2021, Vol. 16 Issue 1, p1-8. 8p.

Subject Terms: *HEARING aids, *HEARING disorders, *ADULTS, *CONDUCTIVE hearing loss, *AUDIOMETRY, *ASSISTIVE listening systems, *IMPEDANCE audiometry

Obstructive sleep apnea in Norwegian adults with achondroplasia: a population-based study.

Authors: Fredwall, Svein O.^1,2 (AUTHOR) svfred@sunnaas.no, Øverland, Britt³ (AUTHOR), Berdal, Hanne³ (AUTHOR), Berg, Søren³ (AUTHOR), Weedon-Fekjær, Harald⁴ (AUTHOR), Lidal, Ingeborg B.¹ (AUTHOR), Savarirayan, Ravi⁵ (AUTHOR), Månum, Grethe^2,6 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 4/7/2021, Vol. 16 Issue 1, p1-9. 9p.

Subject Terms: *SLEEP apnea syndromes, *ACHONDROPLASIA, *SYMPTOMS, *ADULTS, *DIAGNOSIS, *NORWEGIANS

Geographic Terms: BERLIN (Germany)

High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study.

Authors: Fredwall, Svein O.^1,2 (AUTHOR) svfred@sunnaas.no, Steen, Unni¹ (AUTHOR), de Vries, Olga¹ (AUTHOR), Rustad, Cecilie F.³ (AUTHOR), Eggesbø, Heidi Beate⁴ (AUTHOR), Weedon-Fekjær, Harald⁵ (AUTHOR), Lidal, Ingeborg B.¹ (AUTHOR), Savarirayan, Ravi⁶ (AUTHOR), Månum, Grethe^2,7 (AUTHOR)

Source: Orphanet Journal of Rare Diseases. 5/25/2020, Vol. 15 Issue 1, p1-13. 13p.

Subject Terms: *SPINAL stenosis, *WALKING, *ADULTS, *ACTIVITIES of daily living

Correction to: High prevalence of symptomatic spinal stenosis in Norwegian adults with achondroplasia: a population-based study

Authors: Fredwall, Svein O., Steen, Unni, de Vries, Olga, Rustad, Cecilie F., Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Lidal, Ingeborg B., Savarirayan, Ravi, Månum, Grethe

Source: Orphanet journal of rare diseases. 15(1)

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100192930267.0x000001&indx=1&recIds=ETOCvdc_100192930267.0x000001

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.

Authors: Savarirayan, Ravi, Baratela, Wagner, Butt, Thomas, Cormier-Daire, Valérie, Irving, Melita, Miller, Bradley S., Mohnike, Klaus, Ozono, Keiichi, Rosenfeld, Ron, Selicorni, Angelo, Thompson, Dominic, White, Klane K., Wright, Michael, Fredwall, Svein O.

Source: Orphanet Journal of Rare Diseases; 6/13/2022, Vol. 17 Issue 1, p1-10, 10p

The first European consensus on principles of management for achondroplasia.

Authors: Cormier-Daire, Valerie, AlSayed, Moeenaldeen, Ben-Omran, Tawfeg, de Sousa, Sérgio Bernardo, Boero, Silvio, Fredwall, Svein O., Guillen-Navarro, Encarna, Irving, Melita, Lampe, Christian, Maghnie, Mohamad, Mortier, Geert, Peijin, Zagorka, Mohnike, Klaus

Source: Orphanet Journal of Rare Diseases; 7/31/2021, Vol. 16 Issue 1, p1-7, 7p

Subject Terms: FIBROBLAST growth factor receptors, ACHONDROPLASIA, ADOLESCENCE, DYSPLASIA, PATIENT advocacy, COMMUNITIES, QUALITY of life, MEDICAL personnel

Geographic Terms: MIDDLE East, EUROPE

Correction to: Cardiovascular risk factors and body composition in adults with achondroplasia

Authors: Fredwall, Svein O., Linge, Jennifer, Leinhard, Olof Dahlqvist, Kjønigsen, Lisa, Eggesbø, Heidi Beate, Weedon-Fekjær, Harald, Lidal, Ingeborg Beate, Månum, Grethe, Savarirayan, Ravi, Tonstad, Serena

Source: In Genetics in Medicine November 2021 23(11):2234-2234