{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T06:25:13Z","timestamp":1790490313454,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,7]],"date-time":"2012-02-07T00:00:00Z","timestamp":1328572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman\u2013Diamond syndrome (SDS), all patients 3 years old and over included in the Italian SDS Registry were investigated using an ad\u2010hoc questionnaire for information about demography, education, socialization, rehabilitation therapy, and standardized questionnaires [SF\u201036, Child Behavior Check\u2010List (CBCL)] for quality of life and behavior. Results were compared with those of a Cystic Fibrosis (CF) patient group, matched for age and sex. Eighty\u2010one percent of patients answered. All but one adult patient lived with their parents, 24% had independent income, and 57% had a driver's license. Different levels (from mild to severe) of cognitive impairment were reported by 76% of the adults and by 65% of the young patients. These data are significantly lower than those of the CF group. Both groups present low scores in the emotional and mental health evaluations at SF\u201036, but SDS patients reported significantly more limitations in physical functioning (PF) and more body pain (BP) experiences. As reported by parents at CBCL, young SDS patients show more \u201csocial problems\u201d (in the clinical area 31% SDS vs. 6% CF), \u201cattention deficits disorder\u201d (29% SDS vs. 0%CF), and \u201csomatic complaints\u201d (24% SDS vs. 12% CF). Psychosocial functioning is impaired in the majority of SDS patients, significantly more than in patients affected by CF. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35211","type":"journal-article","created":{"date-parts":[[2012,2,7]],"date-time":"2012-02-07T21:32:20Z","timestamp":1328650340000},"page":"567-573","source":"Crossref","is-referenced-by-count":18,"title":["Further characterization of Shwachman\u2013Diamond syndrome: Psychological functioning and quality of life in adult and young patients"],"prefix":"10.1002","volume":"158A","author":[{"given":"Sandra","family":"Perobelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Nicolis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baroukh Maurice","family":"Assael","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Cipolli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,7]]},"reference":[{"key":"e_1_2_6_2_1","volume-title":"Child behavior checklist","author":"Achenbach T","year":"1991"},{"key":"e_1_2_6_3_1","volume-title":"Child behavior checklist","author":"Achenbach TM","year":"1998"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.55.5.331"},{"key":"e_1_2_6_5_1","volume-title":"Diagnostic and statistical manual of mental disorders","author":"American Psychiatric Association","year":"2005"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0895-4356(98)00094-8"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1964.tb07237.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1062"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199909000-00006"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1159\/000055858"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.2337\/diacare.28.6.1508"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.12.1349"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.09.026"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1994"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2002.125850"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80150-5"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32354"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1080\/08035250500539005"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2011.089821"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005650-199206000-00002"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00091-06"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35211","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35211","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:00:52Z","timestamp":1700568052000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,7]]},"references-count":20,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1002\/ajmg.a.35211"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35211","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,7]]}}}