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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Vydané v:	American journal of medical genetics. Part A Ročník 158A; číslo 3; s. 567 - 573
Hlavní autori:	Perobelli, Sandra, Nicolis, Elena, Assael, Baroukh Maurice, Cipolli, Marco
Médium:	Journal Article
Jazyk:	English
Vydavateľské údaje:	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2012 Wiley-Liss Wiley Subscription Services, Inc
Predmet:	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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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. © 2012 Wiley Periodicals, Inc.
AbstractList	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. 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. 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. copyright 2012 Wiley Periodicals, Inc. 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.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.
Author	Nicolis, Elena Assael, Baroukh Maurice Perobelli, Sandra Cipolli, Marco
Author_xml	– sequence: 1 givenname: Sandra surname: Perobelli fullname: Perobelli, Sandra email: sandra.perobelli@ospedaleuniverona.it organization: Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy – sequence: 2 givenname: Elena surname: Nicolis fullname: Nicolis, Elena organization: Laboratorio Analisi Chimico Cliniche, Azienda Ospedaliera Universitaria Integrata, Verona, Italy – sequence: 3 givenname: Baroukh Maurice surname: Assael fullname: Assael, Baroukh Maurice organization: Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy – sequence: 4 givenname: Marco surname: Cipolli fullname: Cipolli, Marco organization: Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy
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Keywords	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
Language	English
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Notes	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
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References	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. Cipolli M. 2001. Shwachman-Diamond Syndrome: Clinical phenotypes. Pancreatology 1: 543- 548. http://www.disabilitaincifre.it/documenti/salute.pdf. American Psychiatric Association. 2005. Diagnostic and statistical manual of mental disorders, 4th edition. Washington, DC: American Psychiatric Association. 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. Shwachman H, Diamond LK, Oski FA, Khaw KT. 1964. The syndrome of pancreatic insufficiency and bone marrow disfunction. J Pediatr 65: 645- 663. 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. 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. 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. 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. 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. 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. 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. Achenbach T. 1991. Child behavior checklist. Burlington, Vermont: University of Vermont, Dept of Psychiatry. 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. Apolone G, Mosconi P. 1998. The Italian SF-36 Health Survey: Translation, validation and norming. J Clin Epidemiol 51: 1025- 1036. 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. Bodian M, Sheldon W, Lightwood R. 1964. Congenital hypoplasia of the exocrine pancreas. Acta Pediatr 53: 282- 293. Kent A, Murphy GH, Milla P. 1990. Psychological characteristics of children with Shwachman Syndrome. Arch Dis Child 65: 1349- 1352. 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. 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. 2007; 39 1990; 65 2006; 95 1999; 29 2002; 141 1980; 55 2010; 156 2006; 26 1998 1964; 65 1964; 53 2008; 146A 2005 2001; 1 2011; 48 1991 1998; 51 2005; 28 2003; 33 1992; 30 e_1_2_6_21_1 e_1_2_6_10_1 e_1_2_6_20_1 Achenbach TM (e_1_2_6_3_1) 1998 e_1_2_6_9_1 e_1_2_6_8_1 e_1_2_6_19_1 e_1_2_6_4_1 e_1_2_6_7_1 e_1_2_6_6_1 American Psychiatric Association (e_1_2_6_5_1) 2005 e_1_2_6_13_1 e_1_2_6_14_1 e_1_2_6_11_1 e_1_2_6_12_1 e_1_2_6_17_1 e_1_2_6_18_1 e_1_2_6_15_1 Achenbach T (e_1_2_6_2_1) 1991 e_1_2_6_16_1
References_xml	– reference: Bodian M, Sheldon W, Lightwood R. 1964. Congenital hypoplasia of the exocrine pancreas. Acta Pediatr 53: 282- 293. – reference: 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. – reference: 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. – reference: Achenbach T. 1991. Child behavior checklist. Burlington, Vermont: University of Vermont, Dept of Psychiatry. – reference: 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. – reference: 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. – reference: American Psychiatric Association. 2005. Diagnostic and statistical manual of mental disorders, 4th edition. Washington, DC: American Psychiatric Association. – reference: 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. – reference: 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. – reference: Kent A, Murphy GH, Milla P. 1990. Psychological characteristics of children with Shwachman Syndrome. Arch Dis Child 65: 1349- 1352. – reference: Apolone G, Mosconi P. 1998. The Italian SF-36 Health Survey: Translation, validation and norming. J Clin Epidemiol 51: 1025- 1036. – reference: 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. – reference: Shwachman H, Diamond LK, Oski FA, Khaw KT. 1964. The syndrome of pancreatic insufficiency and bone marrow disfunction. J Pediatr 65: 645- 663. – reference: 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. – reference: 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. 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Snippet	To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman–Diamond syndrome (SDS), all... To assess psychosocial functioning and quality of life in a representative group of adult and young patients with Shwachman-Diamond syndrome (SDS), all...
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SubjectTerms	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
Title	Further characterization of Shwachman-Diamond syndrome: Psychological functioning and quality of life in adult and young patients
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