{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T10:44:51Z","timestamp":1788173091547,"version":"build-2803163510"},"reference-count":38,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T00:00:00Z","timestamp":1583193600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>This study examined the health\u2010related quality of life (HRQoL) and psychological functioning of children and young adults with Gaucher disease, type 1 (GD1). Thirty\u2010two (17 pediatric, 15 young adult) patients with GD1 and one parent completed age\u2010appropriate assessments of HRQoL, emotional, and behavioral health. The HRQoL of children with GD1 was compared with a healthy sample and to children diagnosed with Fabry disease (FD; another lysosomal storage disease), while young adults were compared to a healthy sample and to patients with self\u2010reported chronic illnesses. Children with GD1 reported significantly lower HRQoL across all domains relative to healthy counterparts yet comparable HRQoL compared to children with FD. Young adults reported mildly lower physical functioning than healthy peers, but no differences in HRQoL relative to the chronic illness sample. Parent\u2010reported symptom severity was associated with poorer HRQOL in children but not young adults. Few group differences in psychological functioning were observed, except young children showed more school problems than the normative average and there was a trend toward internalizing symptoms. Overall, results consistently identified younger patients with GD1 as more affected than older patients in HRQoL and psychological domains. Implementation of psychosocial interventions may be particularly beneficial during early childhood.<\/jats:p>","DOI":"10.1002\/ajmg.a.61533","type":"journal-article","created":{"date-parts":[[2020,3,3]],"date-time":"2020-03-03T05:21:59Z","timestamp":1583212919000},"page":"1130-1142","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Quality of life and psychological functioning of pediatric and young adult patients with Gaucher disease, type 1"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4852-6207","authenticated-orcid":false,"given":"Andrea G.","family":"Alioto","sequence":"first","affiliation":[{"name":"Department of Neurology University of California, Davis  Walnut Creek California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rowena","family":"Gomez","sequence":"additional","affiliation":[{"name":"Department of Clinical Psychology Palo Alto University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Moses","sequence":"additional","affiliation":[{"name":"Department of Clinical Psychology Palo Alto University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Paternostro","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Iowa  Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seymour","family":"Packman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California, San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy","family":"Packman","sequence":"additional","affiliation":[{"name":"Department of Clinical Psychology Palo Alto University  Palo Alto California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,3,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pedhc.2017.04.019"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0178539"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2015-2475"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bcmd.2016.10.008"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1584357"},{"issue":"2","key":"e_1_2_9_7_1","first-page":"59","article-title":"Prevalence and management of Gaucher disease","volume":"3","author":"Burrow T. 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