{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,29]],"date-time":"2026-05-29T12:56:29Z","timestamp":1780059389933,"version":"3.54.0"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T00:00:00Z","timestamp":1745971200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007172","name":"Cincinnati Children's Hospital Medical Center","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007172","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1TR001425"],"award-info":[{"award-number":["UL1TR001425"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetic Counseling"],"published-print":{"date-parts":[[2025,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Developing increased independence is a primary goal of the transition to adulthood. Individuals with disabilities may face additional challenges in developing and maintaining independence during this transition. While clinical presentations associated with many skeletal dysplasias have been documented, recent research investigating how skeletal dysplasia affects independence in young adulthood is limited. We sought to understand and describe how young adults with short stature and skeletal dysplasia define independence, the barriers they face in achieving and maintaining independence, and the resources they leverage to support their independence. We conducted virtual semi\u2010structured qualitative interviews with 10 young adults (ages 18\u201328\u2009years) with short stature and skeletal dysplasia. Interviews were transcribed and analyzed using a modified constructivist grounded theory methodology. Skeletal dysplasia diagnoses among the interviewed cohort include achondroplasia, osteogenesis imperfecta, spondyloepiphyseal dysplasia tarda, spondyloepimetaphyseal dysplasia, and acromicric\/geleophysic dysplasia. Participants' experiences with independence are described through four major categories: prioritizing self\u2010sufficiency, accommodating tension, identifying obstacles, and incorporating facilitators. Considering these categories, we propose that for young adults with short stature and skeletal dysplasia, independence is a balancing act between self\u2010sufficiency and accepting needed assistance. Based on these results, providers can recognize independence as a balancing act between competing priorities, and investigate and support patients' individual priorities. Providers can also explore patients' coping strategies, provide anticipatory guidance, connect individuals to others with shared experiences, learn about available adaptive equipment, and evaluate their clinic environments for accessibility.<\/jats:p>","DOI":"10.1002\/jgc4.70033","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T23:59:16Z","timestamp":1746057556000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Balancing independence: Priorities, tensions, obstacles, and facilitators for independence among young adults with skeletal dysplasia and short stature"],"prefix":"10.1002","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9929-954X","authenticated-orcid":false,"given":"Sarah J.","family":"Ricks","sequence":"first","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"College of Medicine University of Cincinnati  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2698-930X","authenticated-orcid":false,"given":"Jodie","family":"Johnson","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kara B.","family":"Ayers","sequence":"additional","affiliation":[{"name":"Division of Developmental and Behavioral Pediatrics University of Cincinnati Center for Excellence in Developmental Disabilities (UCCEDD), Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loren D. M.","family":"Pena","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Cincinnati Children's Hospital Medical Center  Cincinnati Ohio USA"},{"name":"Department of Pediatrics University of Cincinnati College of Medicine  Cincinnati Ohio USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,4,30]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1037\/0003-066X.55.5.469"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/14780887.2020.1780357"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/09638288.2021.1963853"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010021\u201001971\u20106"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11136\u2010016\u20101455\u20107"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10897\u2010009\u20109270\u20108"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22094321"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2019.103208"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1477\u20107525\u201012\u201054"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.dhjo.2021.101168"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ecc.12836"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.103816"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedn.2015.05.017"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.2490\/prm.20210048"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023\u2010023\u201002643\u20103"},{"key":"e_1_2_12_18_1","volume-title":"The teen years explained: A guide to healthy adolescent development","author":"McNeely C.","year":"2009"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.3233\/PRM\u20102011\u20100149"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61903"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62534"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/jan.14641"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/nin.12261"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63323"},{"key":"e_1_2_12_25_1","volume-title":"The coding manual for qualitative researchers","author":"Salda\u00f1a J.","year":"2016"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352\u20104642(18)30022\u20101"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1891"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1238"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1080\/09638288.2016.1226969"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1644"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijnurstu.2016.07.007"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.17458\/per.vol15.2017.Wrm.Improvinghealthrelatedquality"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62018"}],"container-title":["Journal of Genetic Counseling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jgc4.70033","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,7]],"date-time":"2025-05-07T07:11:26Z","timestamp":1746601886000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jgc4.70033"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,30]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,6]]}},"alternative-id":["10.1002\/jgc4.70033"],"URL":"https:\/\/doi.org\/10.1002\/jgc4.70033","archive":["Portico"],"relation":{},"ISSN":["1059-7700","1573-3599"],"issn-type":[{"value":"1059-7700","type":"print"},{"value":"1573-3599","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,30]]},"assertion":[{"value":"2024-10-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70033"}}