{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T05:46:40Z","timestamp":1751867200527,"version":"3.37.3"},"reference-count":28,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2019,2,12]],"date-time":"2019-02-12T00:00:00Z","timestamp":1549929600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"funder":[{"name":"the Rare Disease Foundation"},{"DOI":"10.13039\/100012285","name":"BC Children\u2019s Hospital Research Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100012285","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,9,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Children and families affected by congenital limb deficiencies (CLD) require a unique level of emotional support from diagnosis through to adolescence. The following study aims to collect data on Canadian paediatric patients affected by a CLD followed at BC Children\u2019s Hospital (BCCH), Department of Orthopaedics.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Parents of children with a CLD were asked to complete a written questionnaire examining their experiences. Qualitative and quantitative data were collected concerning parent satisfaction with patient referrals, emotional support, and knowledge of their child\u2019s diagnosis.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Twenty-five completed questionnaires were returned. Fifty per cent of the parents reported they were either very satisfied, or satisfied, with the emotional support provided by health care providers (HCPs). Twenty-five per cent of the parents were unsatisfied with the emotional support received by HCPs. Forty-eight per cent of the parents could not recall the specific name of their child\u2019s diagnosis; 20% of the parents reported their child did not have diagnosis. All the patients in our study had received a clinical diagnosis. Twenty-eight per cent of the parents in this study were also seen in medical genetics.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Families require additional resources for emotional support, peer support, and referrals to support organizations. Gaps in parent knowledge regarding their child\u2019s CLD suggest the need for formalized communication strategies for HCPs. Furthermore, patients with CLDs and their families may benefit from improved communication between orthopaedic and medical genetic services at the time of diagnosis. Integration of genetic counsellors may improve emotional supports and education for families with regards to testing and reproductive planning.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/pch\/pxz001","type":"journal-article","created":{"date-parts":[[2019,2,12]],"date-time":"2019-02-12T13:29:26Z","timestamp":1549978166000},"page":"395-401","source":"Crossref","is-referenced-by-count":7,"title":["Support, information, and integration of genetics for children with congenital lower limb deficiencies in British Columbia, Canada"],"prefix":"10.1093","volume":"24","author":[{"given":"Teresa","family":"Campbell","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ching-Yi (Jenny)","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harpreet","family":"Chhina","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of British Columbia, Vancouver, British Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rajpreet","family":"Chahal","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of British Columbia, Vancouver, British Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Cooper","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics, University of British Columbia, Vancouver, British Columbia"},{"name":"Department of Orthopaedics, BC Children\u2019s Hospital, Vancouver, British Columbia"},{"name":"BC Children\u2019s Hospital Research Institute, Vancouver, British Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alison M","family":"Elliott","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia"},{"name":"BC Children\u2019s Hospital Research Institute, Vancouver, British Columbia"},{"name":"Women\u2019s Hospital Research Institute, Vancouver, British Columbia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2019,2,12]]},"reference":[{"key":"2019091011561392300_CIT0001","article-title":"Statistics Canada. 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