Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients

To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman–Diamond syndrome (SDS), all patients 3 years old and over included in the Italian SDS Registry were investigated using an ad‐hoc questionnaire for information about demography,...

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Vydáno v:	American journal of medical genetics. Part A Ročník 158A; číslo 3; s. 567 - 573
Hlavní autoři:	Perobelli, Sandra, Nicolis, Elena, Assael, Baroukh Maurice, Cipolli, Marco
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2012 Wiley-Liss Wiley Subscription Services, Inc
Témata:	Adolescent Adult Biological and medical sciences Bone Marrow Diseases - physiopathology Bone Marrow Diseases - psychology Child Child, Preschool cognitive impairment Exocrine Pancreatic Insufficiency - physiopathology Exocrine Pancreatic Insufficiency - psychology Female Humans Infant Lipomatosis - physiopathology Lipomatosis - psychology Male Medical genetics Medical sciences psychosocial functioning Quality of Life Shwachman-Diamond syndrome Surveys and Questionnaires Young Adult Human Shwachman-Diamond syndrome psychosocial functioning Cognitive disorder Shachman Diamond syndrome Diseases of the osteoarticular system Patient Hemopathy Genetic disease Quality of life Characterization Digestive diseases Adult cognitive impairment Pancreatic disease
ISSN:	1552-4825, 1552-4833, 1552-4833
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Shrnutí:	To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman–Diamond syndrome (SDS), all patients 3 years old and over included in the Italian SDS Registry were investigated using an ad‐hoc questionnaire for information about demography, education, socialization, rehabilitation therapy, and standardized questionnaires [SF‐36, Child Behavior Check‐List (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‐one 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‐36, 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 “social problems” (in the clinical area 31% SDS vs. 6% CF), “attention deficits disorder” (29% SDS vs. 0%CF), and “somatic complaints” (24% SDS vs. 12% CF). Psychosocial functioning is impaired in the majority of SDS patients, significantly more than in patients affected by CF. © 2012 Wiley Periodicals, Inc.
Bibliografie:	ArticleID:AJMG35211 How to Cite this Article: Perobelli S, Nicolis E, Assael BM, Cipolli M. 2012. Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients. Am J Med Genet Part A 158A:567-573. istex:F16611893ACEEA9F3B06F9C8A83AFE0F03083E15 ark:/67375/WNG-DX9RCG5D-5 How to Cite this Article: Perobelli S, Nicolis E, Assael BM, Cipolli M. 2012. Further characterization of Shwachman–Diamond syndrome: Psychological functioning and quality of life in adult and young patients. Am J Med Genet Part A 158A:567–573. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23
ISSN:	1552-4825 1552-4833 1552-4833
DOI:	10.1002/ajmg.a.35211