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While complications in childhood are well documented, the natural history of achondroplasia in adults has, until recently, been relatively lacking, and little is known about the care they receive or how they access it. The European Achondroplasia Forum undertook two exploratory surveys, one for healthcare professionals (HCPs) and one for patient advocacy group (PAG) representatives, to gain an understanding of current practices of the transition process of individuals with achondroplasia from paediatric to adult services and how adults perceive their care.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Most HCP respondents followed up more children than adults, and 8\/15 responded that individuals did not transition to an adult multidisciplinary team (MDT) after paediatric care. Of 10 PAG respondents, none considered the experience of transition to adult services as good or very good and 50% considered it to be poor or very poor. A total of 64% (7\/11) described the coordination of transition to adult services as \u201cNot satisfactory\u201d or \u201cPoor\u201d. HCPs and PAG representatives largely agreed on the core specialists involved in adult care (orthopaedic surgeons, physiotherapists, rehabilitation specialists, rheumatologists, clinical geneticists). However, there was a discrepancy in the understanding of healthcare needs outside of this, with PAG representatives selecting neurosurgeons and genetic counsellors, while HCPs selected pulmonologists and obstetricians\/gynaecologists. There was agreement between HCP and PAG respondents on the key barriers to effective care of adults with achondroplasia, with lack of an adult MDT, lack of interest from individuals in accessing care, and less experience in adult than paediatric MDTs ranking highly.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This study indicates that the care and follow up of adults with achondroplasia is challenging. Individuals are often lost to, or decline, follow up as they leave paediatric care, and it is largely unknown how, where, and why adults with achondroplasia access care later in life. Lifelong, multidisciplinary specialist care led by an identified physician should be accessible to all individuals with achondroplasia. It is important to ensure barriers to optimal care are addressed to enable access to appropriate care for all individuals with achondroplasia.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-022-02479-3","type":"journal-article","created":{"date-parts":[[2022,8,20]],"date-time":"2022-08-20T06:03:41Z","timestamp":1660975421000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Optimising care and follow-up of adults with achondroplasia"],"prefix":"10.1186","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2804-5783","authenticated-orcid":false,"given":"Svein","family":"Fredwall","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yana","family":"Allum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moeenaldeen","family":"AlSayed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"In\u00eas","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tawfeg","family":"Ben-Omran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvio","family":"Boero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Cormier-Daire","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Encarna","family":"Guillen-Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melita","family":"Irving","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Lampe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Maghnie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Klaus","family":"Mohnike","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geert","family":"Mortier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9rgio B.","family":"Sousa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,8,20]]},"reference":[{"key":"2479_CR1","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1186\/s13023-021-01971-6","volume":"16","author":"V Cormier-Daire","year":"2021","unstructured":"Cormier-Daire V, AlSayed M, Ben-Omran T, de Sousa SB, Boero S, Fredwall SO, et al. 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MAS has received honoraria or consultation fees from BioMarin, Sanofi-Genzyme and Takeda. IA\u2019s patient organisation, ANDO, has received grants or research support from BioMarin, Pfizer, Ascendis, Kyowa Kirin and QED. SB has received honoraria or consultation fee from CITIEFFE. VCD has participated in clinical trials (BioMarin, QED-Propel and Pfizer) and advisory boards (BioMarin, QED-Propel and Ipsen). EGN has received honoraria or consultation fees from BioMarin. MI has received honoraria or consultation fees from BioMarin, Ascendis, QED Therapeutics, Pfizer, Sanofi, Innoskel, Kyowa Kirin, Alexion, Novo Nordisk. MM has received grants or research support from Merck and Pfizer, and honoraria or consultation fees from Novo Nordisk, Merck, Pfizer, Ascendis, BioMarin and Sandoz. KM has received honoraria and consultation fees from BioMarin and QED. GM has received honoraria or consultation fees from Pfizer and BioMarin. SBS has received grants or research support from Pfizer and Ascendis and honoraria or consultation fees from BioMarin, Ascendis and Kiowa Kirin. MW has received honoraria or consultation fees from BioMarin.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"318"}}