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

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

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

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Perobelli, Sandra Nicolis, Elena Assael, Baroukh Maurice Cipolli, Marco
Description	Country affiliation: Italy Author Affiliation: Perobelli S ( Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy. sandra.perobelli@ospedaleuniverona.it)
Abstract	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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	3
Volume Number	158A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2012-03-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Bone Marrow Diseases Psychology Exocrine Pancreatic Insufficiency Lipomatosis Quality Of Life Adolescent Adult Physiopathology Child Child, Preschool Female Humans Infant Male Questionnaires Young Adult Journal Article Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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