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

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 3, 2012, Pages 567-573

  Perobelli, Sandra ^a   Nicolis, Elena ^a   Assael, Baroukh Maurice ^a   Cipolli, Marco ^a  

^a UNIVERSITY HOSPITAL OF VERONA   (Italy)

Author keywords

Cognitive impairment; Psychosocial functioning; Quality of life; Shwachman Diamond syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; CHILD; CHILD BEHAVIOR CHECKLIST; COGNITIVE DEFECT; CONTROLLED STUDY; CYSTIC FIBROSIS; DEMOGRAPHY; EDUCATION; EMOTIONALITY; FEMALE; HUMAN; ITALY; MAJOR CLINICAL STUDY; MALE; PAIN; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHIATRIC TREATMENT; PSYCHOLOGICAL ASPECT; QUALITY OF LIFE; QUESTIONNAIRE; REHABILITATION CARE; SCHOOL CHILD; SHORT FORM 36; SHWACHMAN SYNDROME; SOCIAL PROBLEM; SOCIALIZATION; SPEECH THERAPY;

ADOLESCENT; ADULT; BONE MARROW DISEASES; CHILD; CHILD, PRESCHOOL; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; HUMANS; INFANT; LIPOMATOSIS; MALE; QUALITY OF LIFE; QUESTIONNAIRES; YOUNG ADULT;

EID: 84857113105     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35211     Document Type: Article

References (20)

1. Achenbach T. 1991. Child behavior checklist. Burlington, Vermont: University of Vermont, Dept of Psychiatry.
2. Achenbach TM, Rescorla LA. 1998. Child behavior checklist. USA: University of Vermont. Italian version by Frigerio A. -"E. Medea" - Ass. La Nostra Famiglia - Bosisio Parini-LC -Italy.
3. Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harris JT. 1980. Shwachman's Syndrome: A review of 21 cases. Arch Dis Child 55: 331- 347.
4. American Psychiatric Association. 2005. Diagnostic and statistical manual of mental disorders, 4th edition. Washington, DC: American Psychiatric Association.
5. Apolone G, Mosconi P. 1998. The Italian SF-36 Health Survey: Translation, validation and norming. J Clin Epidemiol 51: 1025- 1036.
6. Bodian M, Sheldon W, Lightwood R. 1964. Congenital hypoplasia of the exocrine pancreas. Acta Pediatr 53: 282- 293.
7. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. 2003. Mutations in SBDS are associated with Shwachman-Diamond Syndrome. Nat Genet 33: 97- 101.
8. Cipolli M, D'Orazio C, Del Marco A, Marchesini C, Miano A, Mastella G. 1999. Shwachman's Syndrome: Pathomorphosis and long-term outcome. J Pediatr Gastroenterol Nutr 29: 265- 272.
9. Cipolli M. 2001. Shwachman-Diamond Syndrome: Clinical phenotypes. Pancreatology 1: 543- 548.
10. Kamoda T, Saito T, Kinugasa H, Iwasaki N, Sumazaki R, Mouri Y, Izumi I, Hirano T, Matsui A. 2005. A case of Shwachman-Diamond Syndrome presenting with diabetes from early infancy. Diabetes Care 28: 1508- 1509.
11. Kent A, Murphy GH, Milla P. 1990. Psychological characteristics of children with Shwachman Syndrome. Arch Dis Child 65: 1349- 1352.
12. Kerr EN, Ellis L, Dupuis A, Rommens JM, Durie PR. 2010. The behavioral phenotype of school-age children with Shwachman-Diamond Syndrome indicates neurocognitive disfunction with loss of Shwachman-Bodian-Diamond syndrome gene function. J Pediatr 156: 433- 438.
13. Menne TF, Goyenechea B, Sanchez-Puig N, Woong CC, Tonkin LM, Ancliff PJ, Brost RL, Costanzo M, Boone C, Warren AJ. 2007. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet 39: 486- 495.
14. Rothbaum R, Perrault J, Vlachos A, Cipolli M, Alter BP, Burroughs S, Durie PR, Elghetani MT, Grand R, Hubbard V, Rommens JM, Rossi T. 2002. Shwachman-Diamond Syndrome: Report from an international conference. J Pediatr 141: 266- 270.
15. Shwachman H, Diamond LK, Oski FA, Khaw KT. 1964. The syndrome of pancreatic insufficiency and bone marrow disfunction. J Pediatr 65: 645- 663.
16. Toiviainen-Salo S, Makitie O, Mannerkoski M, Hamalainen J, Valanne L, Autti T. 2008. Shwachman-Diamond Syndrome is associated with structural brain alterations on MRI. Am J Med Genet Part A 146A: 1558- 1564.
17. Todorovic-Guild M, Krajnc O, Marcun Varda N, Zagradisnik B, Kokalj Vokac N, Gregoric A. 2006. A case of Shwachman-Diamond Syndrome in a male neonate. Acta Pediatr 95: 892- 893.
18. Tsangaris E, Klaassen R, Fernandez CV, Yanofsky R, Shereck E, Champagne J, Silva M, Lipton JH, Brossard J, Michon B, Abish S, Steele M, Ali K, Dower N, Athale U, Jardine L, Hand JP, Odame I, Canning P, Allen C, Carcao M, Beyene J, Roifman CM, Dror Y. 2011. Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. J Med Genet 48: 618- 628.
19. Ware JE Jr, Sherbourne CD. 1992. The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care 30: 473- 483.
20. Zhang S, Shi M, Hui CC, Rommens JM. 2006. Loss of the mouse ortholog of the Shwachman-Diamond syndrome gene (sbds) results in early embryonic lethality. Mol Cell Biol 26: 6656- 6663.