{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T02:46:16Z","timestamp":1771555576340,"version":"3.50.1"},"reference-count":18,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T00:00:00Z","timestamp":1657238400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>The 5p- syndrome is associated with intellectual disturbance and physical complications from infancy, and patients continue treatment into adulthood. This study aimed to clarify the factors that facilitate and prevent healthcare transition from pediatric to adult care by conducting a questionnaire survey among medical professionals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects<\/jats:title><jats:p>The survey included 81 medical professionals nominated by an association of families of 5p- patients in Japan. The questions involved medical care for 5p- syndrome in adulthood, experience of transition, and factors facilitating a patient\u2019s transition. Responses were obtained from 32 participants, with 27 answers eligible for analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The questionnaire items involved physical symptoms and concerns regarding support and welfare prompting consult. The most common physical symptom was constipation. Regarding support and welfare, all participants had an experience of receiving consultation about care for the siblings of patients. Three (11.1%) participants had an experience of transition. Regarding the transition of patients with rare diseases or intellectual disturbance, only four (14.8%) believed that progress was being made in the transition.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>Only 11% of the respondents experienced the transition of patients with 5p- syndrome. Because it is difficult for highly specialized adult care providers to deal with multidisciplinary complications of 5p- syndrome and information on prognosis and natural history is not known, it is presumed that the transition of 5p- syndrome did not progress. Factors to improve the transition of patients with 5p- syndrome and are likely to be effective for the transition of patients with other rare diseases or intellectual disabilities.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2022.924343","type":"journal-article","created":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T05:54:18Z","timestamp":1657259658000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals"],"prefix":"10.3389","volume":"10","author":[{"given":"Yuko","family":"Ishizaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mari","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayoko","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoko","family":"Fujihira","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,7,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2019.e02750","article-title":"Systematic review of study designs and methods in health transition research for young people with intellectual disabilities.","volume":"5","author":"Kaehne","year":"2019","journal-title":"Heliyon."},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-33","article-title":"Cri du chat syndrome.","volume":"1","author":"Mainardi","year":"2006","journal-title":"Orphanet J Rare Dis."},{"key":"B3","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1002\/ajmg.c.31444","article-title":"Campbell DJ. 5p deletions: current knowledge and future directions.","volume":"169","author":"Nguyen","year":"2015","journal-title":"Am J Med Genet C Semin Med Genet."},{"key":"B4","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1017\/s0012162299000559","article-title":"Cognitive functioning in children with typical cri du chat (5p-) syndrome.","volume":"41","author":"Cornish","year":"1999","journal-title":"Dev Med Child Neurol."},{"key":"B5","doi-asserted-by":"publisher","first-page":"752","DOI":"10.1111\/j.1469-8749.1997.tb07377.x","article-title":"Correlates of maladaptive behavior in individuals with 5p- (cri du chat) syndrome.","volume":"39","author":"Dykens","year":"1997","journal-title":"Dev Med Child Neurol."},{"key":"B6","first-page":"3098","article-title":"3 Cases of partial deletion of the short arm of a 5 chromosome.","volume":"257","author":"Lejeune","year":"1963","journal-title":"C R Hebd Seances Acad Sci."},{"key":"B7","doi-asserted-by":"publisher","first-page":"e473","DOI":"10.4317\/medoral.15.e473","article-title":"Cri du Chat syndrome: a critical review.","volume":"15","author":"Rodr\u00edguez-Caballero","year":"2010","journal-title":"Med Oral Patol Oral Cir Bucal."},{"key":"B8","doi-asserted-by":"publisher","first-page":"770","DOI":"10.1016\/s0387-7604(12)80004-0","article-title":"Livebirth prevalence and follow-up of malformation syndromes in 27,472 newborns.","volume":"12","author":"Higurashi","year":"1990","journal-title":"Brain Dev."},{"key":"B9","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1016\/s0022-3476(80)80189-2","article-title":"Psychomotor development in 65 home-reared children with cri du chat syndrome.","volume":"97","author":"Wilkins","year":"1980","journal-title":"J Pediatr."},{"key":"B10","doi-asserted-by":"publisher","first-page":"448","DOI":"10.1136\/adc.75.5.448","article-title":"Developmental and behavioural characteristics of Cri du Chat syndrome.","volume":"75","author":"Cornish","year":"1996","journal-title":"Arch Dis Child."},{"key":"B11","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1007\/s10038-004-0213-9","article-title":"Genotype-phenotype correlation of 5p-syndrome: pitfall of diagnosis.","volume":"50","author":"Kondoh","year":"2005","journal-title":"J Hum Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1007\/BF00394291","article-title":"The cri du chat syndrome: epidemiology, cytogenetics, and clinical features.","volume":"44","author":"Niebuhr","year":"1978","journal-title":"Hum Genet."},{"key":"B13","first-page":"537","article-title":"Psychosocial functioning in siblings of children with rare disorders compared to controls.","volume":"94","author":"Haukeland","year":"2021","journal-title":"Yale J Biol Med."},{"key":"B14","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1097\/00004703-198806000-00001","article-title":"The ontario child health study: social adjustment and mental health of siblings of children with chronic health problems.","volume":"9","author":"Cadman","year":"1988","journal-title":"Dev Behav Pediatr."},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ssmph.2019.100441","article-title":"A population-level study of the mental health of siblings of children who have a developmental disability.","volume":"8","author":"Marquis","year":"2019","journal-title":"SSM Popul Health."},{"key":"B16","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1080\/09638288.2016.1251500","article-title":"Complete mental health in adult siblings of those with a chronic illness or disability.","volume":"40","author":"Hallion","year":"2018","journal-title":"Disabil Rehabil."},{"key":"B17","doi-asserted-by":"publisher","first-page":"119","DOI":"10.3389\/fpsyt.2018.00570","article-title":"Psychosocial problems among siblings of children with disabilities in Japan: psychosocial association between mothers and siblings.","volume":"17","author":"Ishizaki","year":"2005","journal-title":"J Dev Phys Disabil."},{"key":"B18","doi-asserted-by":"publisher","first-page":"757","DOI":"10.1111\/j.1469-8749.1997.tb07378.x","article-title":"Families of children with 5p- (cri du chat) syndrome: familial stress and sibling reactions.","volume":"39","author":"Hodapp","year":"1997","journal-title":"Dev Med Child Neurol."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.924343\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T05:54:23Z","timestamp":1657259663000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2022.924343\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7,8]]},"references-count":18,"alternative-id":["10.3389\/fped.2022.924343"],"URL":"https:\/\/doi.org\/10.3389\/fped.2022.924343","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,7,8]]},"article-number":"924343"}}