{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,12,28]],"date-time":"2024-12-28T05:14:44Z","timestamp":1735362884891,"version":"3.32.0"},"reference-count":33,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,10]],"date-time":"2024-04-10T00:00:00Z","timestamp":1712707200000},"content-version":"vor","delay-in-days":100,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["gimopen.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genetics in Medicine Open"],"published-print":{"date-parts":[[2024]]},"DOI":"10.1016\/j.gimo.2024.101847","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T08:44:11Z","timestamp":1713257051000},"page":"101847","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease"],"prefix":"10.1016","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6880-1523","authenticated-orcid":false,"given":"Ma-Am Joy R.","family":"Tumulak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmencita D.","family":"Padilla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose Carlo E.","family":"Ongchangco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercy Y.","family":"Laurino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John Benedict B.","family":"Lagarde","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen S.","family":"Regalado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Augusto V.","family":"Legaspi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth R.","family":"Ventura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"suppl 2","key":"10.1016\/j.gimo.2024.101847_bib1","doi-asserted-by":"crossref","first-page":"S281","DOI":"10.1007\/s10545-008-0859-0","article-title":"Maple syrup urine disease (MSUD)\u2014clinical profile of 47 Filipino patients","volume":"31","author":"Lee","year":"2008","journal-title":"J\u00a0Inherit Metab Dis"},{"issue":"3","key":"10.1016\/j.gimo.2024.101847_bib2","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1111\/j.1442-200X.2008.02610.x","article-title":"Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection","volume":"50","author":"Silao","year":"2008","journal-title":"Pediatr Int"},{"year":"2006","series-title":"Atlas of Genetic Diagnosis and Counseling","author":"Chen","key":"10.1016\/j.gimo.2024.101847_bib3"},{"year":"2007","series-title":"Thompson and Thompson Genetics in Medicine","author":"Nussbaum","key":"10.1016\/j.gimo.2024.101847_bib4"},{"issue":"3","key":"10.1016\/j.gimo.2024.101847_bib5","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ymgme.2020.01.006","article-title":"Branched-chain \u03b1-ketoacid dehydrogenase deficiency (maple syrup urine disease): treatment, biomarkers, and outcomes","volume":"129","author":"Strauss","year":"2020","journal-title":"Mol Genet Metab"},{"issue":"1 suppl","key":"10.1016\/j.gimo.2024.101847_bib6","doi-asserted-by":"crossref","first-page":"S72","DOI":"10.1067\/mpd.2001.111839","article-title":"Psychosocial issues and coping strategies in families affected by urea cycle disorders","volume":"138","author":"Cederbaum","year":"2001","journal-title":"J\u00a0Pediatr"},{"issue":"6","key":"10.1016\/j.gimo.2024.101847_bib7","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1007\/s10897-007-9114-3","article-title":"Psychosocial issues in families affected by maple syrup urine disease","volume":"16","author":"Packman","year":"2007","journal-title":"J\u00a0Genet Couns"},{"issue":"1","key":"10.1016\/j.gimo.2024.101847_bib8","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/s13023-022-02183-2","article-title":"Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus","volume":"17","author":"B\u00f6sch","year":"2022","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"10.1016\/j.gimo.2024.101847_bib9","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1097\/00003727-199610000-00010","article-title":"Families caring for chronically ill children with tuberous sclerosis complex","volume":"19","author":"Parker","year":"1996","journal-title":"Fam Community Health"},{"author":"Lawrence","key":"10.1016\/j.gimo.2024.101847_bib10"},{"issue":"6","key":"10.1016\/j.gimo.2024.101847_bib11","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1007\/s10995-007-0307-z","article-title":"Impact of child disability on the family","volume":"12","author":"Reichman","year":"2008","journal-title":"Matern Child Health J"},{"issue":"6","key":"10.1016\/j.gimo.2024.101847_bib12","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1093\/jpepsy\/24.6.491","article-title":"Family functioning, neurocognitive functioning, and behavior problems in children with sickle cell disease","volume":"24","author":"Thompson","year":"1999","journal-title":"J\u00a0Pediatr Psychol"},{"issue":"1","key":"10.1016\/j.gimo.2024.101847_bib13","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1037\/0022-006X.57.1.25","article-title":"Families of chronically ill children: a systems and social-ecological model of adaptation and challenge","volume":"57","author":"Kazak","year":"1989","journal-title":"J\u00a0Consult Clin Psychol"},{"issue":"10","key":"10.1016\/j.gimo.2024.101847_bib14","doi-asserted-by":"crossref","first-page":"1904","DOI":"10.1002\/cncr.34171","article-title":"Caregiver burden among diverse caregivers","volume":"128","author":"Utz","year":"2022","journal-title":"Cancer"},{"issue":"4","key":"10.1016\/j.gimo.2024.101847_bib15","first-page":"438","article-title":"Caregiver burden: a concept analysis","volume":"7","author":"Liu","year":"2020","journal-title":"Int J Nurs Sci"},{"issue":"10","key":"10.1016\/j.gimo.2024.101847_bib16","doi-asserted-by":"crossref","first-page":"593","DOI":"10.11622\/smedj.2021033","article-title":"Caregiver burden and its prevalence, measurement scales, predictive factors and impact: a review with an Asian perspective","volume":"63","author":"Loo","year":"2022","journal-title":"Singapore Med J"},{"author":"Shapiro","key":"10.1016\/j.gimo.2024.101847_bib17"},{"author":"de Torres","key":"10.1016\/j.gimo.2024.101847_bib18"},{"issue":"1","key":"10.1016\/j.gimo.2024.101847_bib19","first-page":"18","article-title":"Psychological issues in the care of children and adolescents with type 1 diabetes","volume":"10","author":"Frank","year":"2005","journal-title":"Paediatr Child Health"},{"issue":"1","key":"10.1016\/j.gimo.2024.101847_bib20","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1186\/1750-1172-8-22","article-title":"Australian families living with rare disease: experiences of diagnosis, health services use and needs for psychosocial support","volume":"8","author":"Anderson","year":"2013","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"10.1016\/j.gimo.2024.101847_bib21","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s10545-013-9639-6","article-title":"Living with an inborn error of metabolism detected by newborn screening-parents\u2019 perspectives on child development and impact on family life","volume":"37","author":"Gramer","year":"2014","journal-title":"J\u00a0Inherit Metab Dis"},{"year":"1999","series-title":"An introduction to phenomenological research","author":"Lester","key":"10.1016\/j.gimo.2024.101847_bib22"},{"author":"Tenny","key":"10.1016\/j.gimo.2024.101847_bib23"},{"issue":"3","key":"10.1016\/j.gimo.2024.101847_bib24","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1002\/nop2.275","article-title":"Qualitative thematic analysis based on descriptive phenomenology","volume":"6","author":"Sundler","year":"2019","journal-title":"Nurs Open"},{"author":"Howitt","key":"10.1016\/j.gimo.2024.101847_bib25"},{"issue":"3","key":"10.1016\/j.gimo.2024.101847_bib26","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1111\/j.1545-5300.1990.00229.x","article-title":"Anticipatory loss: a family systems developmental framework","volume":"29","author":"Rolland","year":"1990","journal-title":"Fam Process"},{"issue":"3","key":"10.1016\/j.gimo.2024.101847_bib27","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1111\/j.1365-2648.1992.tb01910.x","article-title":"A\u00a0family nursing approach to the care of a child with a chronic illness","volume":"17","author":"Whyte","year":"1992","journal-title":"J\u00a0Adv Nurs"},{"issue":"5","key":"10.1016\/j.gimo.2024.101847_bib28","doi-asserted-by":"crossref","first-page":"401","DOI":"10.1111\/j.1399-0004.2008.01088.x","article-title":"Adaptation to living with a genetic condition or risk: a mini-review","volume":"74","author":"Biesecker","year":"2008","journal-title":"Clin Genet"},{"issue":"11","key":"10.1016\/j.gimo.2024.101847_bib29","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1037\/0003-066X.38.11.1161","article-title":"Adjustment to threatening events: a theory of cognitive adaptation","volume":"38","author":"Taylor","year":"1983","journal-title":"Am Psychol"},{"issue":"2","key":"10.1016\/j.gimo.2024.101847_bib30","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/s10897-005-9014-3","article-title":"A\u00a0new definition of Genetic Counseling: National Society of Genetic Counselors\u2019 Task Force report","volume":"15","author":"Resta","year":"2006","journal-title":"J\u00a0Genet Couns"},{"issue":"2","key":"10.1016\/j.gimo.2024.101847_bib31","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/gim.2013.90","article-title":"Medical management adherence as an outcome of genetic counseling in a pediatric setting","volume":"16","author":"Rutherford","year":"2014","journal-title":"Genet Med"},{"issue":"11","key":"10.1016\/j.gimo.2024.101847_bib32","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1038\/ejhg.2008.104","article-title":"Health first, genetics second: exploring families\u2019 experiences of communicating genetic information","volume":"16","author":"Forrest","year":"2008","journal-title":"Eur J Hum Genet"},{"issue":"6","key":"10.1016\/j.gimo.2024.101847_bib33","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1007\/s10897-007-9113-4","article-title":"Coming full circle: a reciprocal-engagement model of genetic counseling practice","volume":"16","author":"Veach","year":"2007","journal-title":"J\u00a0Genet Couns"}],"container-title":["Genetics in Medicine Open"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774424009932?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2949774424009932?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,27]],"date-time":"2024-12-27T09:10:38Z","timestamp":1735290638000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2949774424009932"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":33,"alternative-id":["S2949774424009932"],"URL":"https:\/\/doi.org\/10.1016\/j.gimo.2024.101847","relation":{},"ISSN":["2949-7744"],"issn-type":[{"type":"print","value":"2949-7744"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Living with a child with MSUD: Psychosocial issues of Filipino parents with a child with maple syrup urine disease","name":"articletitle","label":"Article Title"},{"value":"Genetics in Medicine Open","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gimo.2024.101847","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.","name":"copyright","label":"Copyright"}],"article-number":"101847"}}