{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T22:01:45Z","timestamp":1771106505467,"version":"3.50.1"},"reference-count":24,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:00:00Z","timestamp":1762473600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T00:00:00Z","timestamp":1762473600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Skeletal dysplasia (SD) encompasses over 700 heterogeneous genetic conditions affecting the development, growth and maintenance of the human skeleton. Challenges regarding feeding, nutrition, and physical activity are reported across the lifespan, but the lived experience of these issues is poorly understood. This study uses a qualitative mixed methodology to explore feeding, nutrition, and physical activity from the perspectives of individuals living with SD or their parents. Three semistructured focus groups were conducted in Norway and 13 interviews in Australia. The two qualitative datasets were thematically analyzed separately, and themes were then synthesized together. Thirty\u2010five participants with SD or their parents participated across the two sites. Six major themes were identified: (i) early life feeding, development, and activity; (ii) managing energy intake and nutrition in older children and adults; (iii) practical considerations related to food preparation; (iv) weight gain; (v) holistic health care; and (vi) physical activity in older children and adults. Subthemes identified included breastfeeding challenges, inappropriate assessment of growth and nutritional status, barriers to being physically active in adulthood, and difficulty navigating food portions. Understanding the experiences of people with SD will support and inform future codesigned tailored solutions to address feeding, nutrition, and physical activity.<\/jats:p>","DOI":"10.1002\/ajmg.a.64302","type":"journal-article","created":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T09:38:58Z","timestamp":1762508338000},"page":"695-705","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Feeding, Nutrition, and Physical Activity From the Perspectives of People With Skeletal Dysplasia in Australia and Norway: A Mixed Qualitative Methods Study"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8566-9341","authenticated-orcid":false,"given":"Natassja","family":"Billich","sequence":"first","affiliation":[{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johanne 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