{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T18:05:19Z","timestamp":1792087519065,"version":"4.4.0"},"reference-count":46,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100004229","name":"Fondazione Pierfranco e Luisa Mariani","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004229","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1016\/j.ejmg.2021.104230","type":"journal-article","created":{"date-parts":[[2021,4,25]],"date-time":"2021-04-25T09:50:58Z","timestamp":1619344258000},"page":"104230","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"title":["Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort"],"prefix":"10.1016","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3596-825X","authenticated-orcid":false,"given":"Alex","family":"Moretti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Cianci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"De Paoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Meroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Taj\u00e8","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milena","family":"Mariani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2021.104230_bib1","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1080\/15433710903269172","article-title":"Evidence-based practice with families of chronically ill children: a critical literature review","volume":"8","author":"Anderson","year":"2011","journal-title":"J. Evid. Base Soc. Work"},{"key":"10.1016\/j.ejmg.2021.104230_bib2","first-page":"150","article-title":"Influence of selected child characteristics on stress in families of handicapped infants","volume":"88","author":"Beckman","year":"1983","journal-title":"Am. J. Ment. Defic."},{"key":"10.1016\/j.ejmg.2021.104230_bib3","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1111\/j.1741-1130.2006.00085.x","article-title":"Family quality of life when there is a child with a developmental disability","volume":"3","author":"Brown","year":"2006","journal-title":"J. Pol. Pract. Intellect. Disabil."},{"key":"10.1016\/j.ejmg.2021.104230_bib4","article-title":"What we know (and do not know) about raising children with complex continuing care needs","author":"Carnevale","year":"2008","journal-title":"J. Child Heal. Care Prof. Work. with Child. Hosp. Commun."},{"key":"10.1016\/j.ejmg.2021.104230_bib5","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1097\/NNR.0b013e31825b6848","article-title":"Home-based care for special healthcare needs: community children's nursing services","volume":"61","author":"Carter","year":"2012","journal-title":"Nurs. Res."},{"key":"10.1016\/j.ejmg.2021.104230_bib6","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1093\/jpepsy\/jst049","article-title":"Parenting stress among caregivers of children with chronic illness: a systematic review","volume":"38","author":"Cousino","year":"2013","journal-title":"J. Pediatr. Psychol."},{"key":"10.1016\/j.ejmg.2021.104230_bib7","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.socscimed.2011.05.016","article-title":"Protecting the health of employees caring for family members with special health care needs","volume":"73","author":"Earle","year":"2011","journal-title":"Soc. Sci. Med."},{"key":"10.1016\/j.ejmg.2021.104230_bib8","doi-asserted-by":"crossref","first-page":"3196","DOI":"10.1111\/j.1365-2702.2008.02630.x","article-title":"\u201cI don't know how we coped before\u201d: a study of respite care for children in the home and hospice","volume":"17","author":"Eaton","year":"2008","journal-title":"J. Clin. Nurs."},{"key":"10.1016\/j.ejmg.2021.104230_bib9","author":"EURORDIS"},{"key":"10.1016\/j.ejmg.2021.104230_bib10","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1542\/peds.112.3.691","article-title":"Family-centered care and the pediatrician's role","volume":"112","author":"Family-Centered Care and the Pediatrician's Role","year":"2003","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2021.104230_bib11","first-page":"240","article-title":"Stress and coping among parents of handicapped children: a multidimensional approach","volume":"94","author":"Frey","year":"1989","journal-title":"Am. J. Ment. Retard."},{"key":"10.1016\/j.ejmg.2021.104230_bib12","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1093\/jpepsy\/jsn040","article-title":"Predictors of psychological morbidity in parents of children with intellectual disabilities","volume":"33","author":"Gallagher","year":"2008","journal-title":"J. Pediatr. Psychol."},{"key":"10.1016\/j.ejmg.2021.104230_bib13","series-title":"Intellectual Disability: Understanding its Development, Causes, Classification, Evaluation, and treatment., Developmental Perspectives in Psychiatry","article-title":"Intellectual disability: understanding its development, causes, classification, evaluation, and treatment","author":"Harris","year":"2006"},{"key":"10.1016\/j.ejmg.2021.104230_bib14","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1111\/j.1365-2788.2005.00673.x","article-title":"Parenting stress in mothers of children with an intellectual disability: the effects of parental cognitions in relation to child characteristics and family support","volume":"49","author":"Hassall","year":"2005","journal-title":"J. Intellect. Disabil. Res."},{"key":"10.1016\/j.ejmg.2021.104230_bib15","author":"Hibbard"},{"key":"10.1016\/j.ejmg.2021.104230_bib16","first-page":"201","article-title":"Parental stress in families of children with disabilities","volume":"53","author":"Hsiao","year":"2017","journal-title":"Interv. Sch. Clin."},{"key":"10.1016\/j.ejmg.2021.104230_bib17","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.ambp.2007.08.001","article-title":"Unmet mental health need and access to services for children with special health care needs and their families","volume":"7","author":"Inkelas","year":"2007","journal-title":"Ambul. Pediatr."},{"key":"10.1016\/j.ejmg.2021.104230_bib18","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1046\/j.1440-1754.2000.00435.x","article-title":"Factors associated with recurrent hospitalization in chronically ill children and adolescents","volume":"36","author":"Kelly","year":"2000","journal-title":"J. Paediatr. Child Health"},{"key":"10.1016\/j.ejmg.2021.104230_bib19","doi-asserted-by":"crossref","first-page":"241","DOI":"10.3109\/09638239209005457","article-title":"Stress in families of children with disability: a review of risk and resistance factors","volume":"1","author":"Knussen","year":"1992","journal-title":"J. Ment. Health"},{"key":"10.1016\/j.ejmg.2021.104230_bib20","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1001\/archpediatrics.2011.172","article-title":"A national profile of caregiver challenges among more medically complex children with special health care needs","volume":"165","author":"Kuo","year":"2011","journal-title":"Arch. Pediatr. Adolesc. Med."},{"key":"10.1016\/j.ejmg.2021.104230_bib21","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1111\/j.1365-2214.2004.00392.x","article-title":"Different meanings of respite: a study of parents, nurses and social workers caring for children with complex needs","volume":"30","author":"MacDonald","year":"2004","journal-title":"Child Care Health Dev."},{"key":"10.1016\/j.ejmg.2021.104230_bib22","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s00431-011-1616-1","article-title":"Educational paper: detection, diagnosis, and prevention of child abuse: the role of the pediatrician","volume":"171","author":"Marchand","year":"2012","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ejmg.2021.104230_bib23","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2018-3171","article-title":"Psychosocial factors in children and youth with special health care needs and their families","volume":"143","author":"Mattson","year":"2019","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2021.104230_bib24","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1542\/peds.102.1.137","article-title":"A new definition of children with special health care needs","volume":"102","author":"McPherson","year":"1998","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2021.104230_bib25","first-page":"451","article-title":"The impact of technology dependence on children and their families","volume":"27","author":"Mesman","year":"2013","journal-title":"J. Pediatr. Heal. care Off. Publ. Natl. Assoc. Pediatr. Nurse Assoc. Pract."},{"key":"10.1016\/j.ejmg.2021.104230_bib26","first-page":"184","article-title":"Family resources and stress associated with having a mentally retarded child","volume":"93","author":"Minnes","year":"1988","journal-title":"Am. J. Ment. Retard."},{"key":"10.1016\/j.ejmg.2021.104230_bib27","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1352\/1944-7558-120.6.514","article-title":"The relative risk of divorce in parents of children with developmental disabilities: impacts of lifelong parenting","volume":"120","author":"Namkung","year":"2015","journal-title":"Am. J. Intellect. Dev. Disabil."},{"key":"10.1016\/j.ejmg.2021.104230_bib28","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1001\/archpedi.159.1.10","article-title":"A national profile of health care utilization and expenditures for children with special health care needs","volume":"159","author":"Newacheck","year":"2005","journal-title":"Arch. Pediatr. Adolesc. Med."},{"key":"10.1016\/j.ejmg.2021.104230_bib29","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1300\/J010v44n03_08","article-title":"An evaluation of dyadic peer support for caregiving parents of children with chronic lung disease requiring technology assistance","volume":"44","author":"Nicholas","year":"2007","journal-title":"Soc. Work. Health Care"},{"key":"10.1016\/j.ejmg.2021.104230_bib30","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/ajmg.c.31458","article-title":"Recognition and prevention of child abuse in the child with disability","volume":"169","author":"Nowak","year":"2015","journal-title":"Am. J. Med. Genet. Part C Semin. Med. Genet."},{"issue":"Suppl. l","key":"10.1016\/j.ejmg.2021.104230_bib31","doi-asserted-by":"crossref","first-page":"S392","DOI":"10.1542\/peds.2009-1255J","article-title":"Understanding factors associated with work loss for families caring for CSHCN","volume":"124","author":"Okumura","year":"2009","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2021.104230_bib32","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.21037\/tp.2020.02.02","article-title":"A clinical primer on intellectual disability","volume":"9","author":"Patel","year":"2020","journal-title":"Transl. Pediatr."},{"key":"10.1016\/j.ejmg.2021.104230_bib33","doi-asserted-by":"crossref","first-page":"30","DOI":"10.12927\/hcq.2014.24017","article-title":"Caring for caregivers of high-needs children","volume":"17","author":"Peckham","year":"2014","journal-title":"Healthc. Q."},{"key":"10.1016\/j.ejmg.2021.104230_bib34","first-page":"190","article-title":"Caring for the caregiver: supporting families of youth with special health care needs","volume":"47","author":"Pilapil","year":"2017","journal-title":"Curr. Probl. Pediatr. Adolesc. Health Care"},{"key":"10.1016\/j.ejmg.2021.104230_bib35","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s13052-016-0285-0","article-title":"Daily life changes and adaptations investigated in 154 families with a child suffering from a rare disability at a public centre for rare diseases in Northern Italy","volume":"42","author":"Silibello","year":"2016","journal-title":"Ital. J. Pediatr."},{"key":"10.1016\/j.ejmg.2021.104230_bib36","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1080\/17518423.2017.1326185","article-title":"Factors associated with stress in families of children with autism spectrum disorder","volume":"21","author":"Sim","year":"2018","journal-title":"Dev. Neurorehabil."},{"key":"10.1016\/j.ejmg.2021.104230_bib37","doi-asserted-by":"crossref","DOI":"10.1542\/peds.2008-2504","article-title":"Access to the medical home: new findings from the 2005-2006 national survey of children with special health care needs","volume":"123","author":"Strickland","year":"2009","journal-title":"Pediatrics"},{"key":"10.1016\/j.ejmg.2021.104230_bib38","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1177\/0269216311401947","article-title":"Teenagers' and parents' views on a short-break service for children with life-limiting conditions: a qualitative study","volume":"26","author":"Swallow","year":"2012","journal-title":"Palliat. Med."},{"key":"10.1016\/j.ejmg.2021.104230_bib39","doi-asserted-by":"crossref","first-page":"1592","DOI":"10.1002\/ajmg.a.61584","article-title":"Caregiver-reported clinical characteristics and the burden associated with Kabuki syndrome","volume":"182","author":"Theodore-Oklota","year":"2020","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2021.104230_bib40","doi-asserted-by":"crossref","first-page":"24","DOI":"10.7748\/ncyp.24.8.24.s27","article-title":"Respite care in seven families with children with complex care needs","volume":"24","author":"Thomas","year":"2012","journal-title":"Nurs. Child. Young People"},{"key":"10.1016\/j.ejmg.2021.104230_bib41","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1093\/jpepsy\/17.3.327","article-title":"Family resources and stress: a comparison of families of children with cystic fibrosis, diabetes, and mental retardation","volume":"17","author":"Walker","year":"1992","journal-title":"J. Pediatr. Psychol."},{"key":"10.1016\/j.ejmg.2021.104230_bib42","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1007\/s10995-010-0711-7","article-title":"The concurrent and longitudinal effects of child disability types and health on family experiences","volume":"16","author":"Wei","year":"2012","journal-title":"Matern. Child Health J."},{"key":"10.1016\/j.ejmg.2021.104230_bib43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1371\/journal.pone.0184541","article-title":"Physical, psychological, sexual, and systemic abuse of children with disabilities in East Africa: mapping the evidence","volume":"12","author":"Winters","year":"2017","journal-title":"PloS One"},{"key":"10.1016\/j.ejmg.2021.104230_bib44","first-page":"137","volume":"102","author":"With","year":"2017","journal-title":"A New Definition Child."},{"key":"10.1016\/j.ejmg.2021.104230_bib45","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1001\/archpedi.157.7.687","article-title":"Childhood functional status, family stressors, and psychosocial adjustment among school-aged children with disabilities in the United States","volume":"157","author":"Witt","year":"2003","journal-title":"Arch. Pediatr. Adolesc. Med."},{"key":"10.1016\/j.ejmg.2021.104230_bib46","article-title":"Parenting stress in families of children with Prader-Willi syndrome","author":"Wong","year":"2020","journal-title":"Am. J. Med. Genet."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221000963?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721221000963?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:50:25Z","timestamp":1761709825000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721221000963"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":46,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["S1769721221000963"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104230","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Burden of care in families of patients with rare genetic diseases: analysis of a large Italian cohort","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2021.104230","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"104230"}}