Social cognition in 22q11.2 microdeletion syndrome: Relevance to psychosis?

Schizophrenia Research

Volumn 142, Issue 1-3, 2012, Pages 99-107

  Jalbrzikowski, Maria ^a   Carter, Chelsea ^a   Senturk, Damla ^b   Chow, Carolyn ^c   Hopkins, Jessica M ^a   Green, Michael F ^c,d   Galván, Adriana ^a   Cannon, Tyrone D ^a,c   Bearden, Carrie E ^a,c  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d VA GREATER LOS ANGELES HEALTHCARE SYSTEM   (United States)

Author keywords

22q11.2 microdeletion syndrome; Prodromal; Psychosis; Schizophrenia; Social cognition

Indexed keywords

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; CHILD; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 22Q11.2; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SEVERITY; EDUCATIONAL STATUS; EMOTION; ETHNIC DIFFERENCE; FEMALE; HUMAN; INTELLIGENCE QUOTIENT; MAJOR CLINICAL STUDY; MALE; MENTAL TASK; NEGATIVE SYNDROME; POSITIVE SYNDROME; PREDICTION; PRIORITY JOURNAL; PSYCHOSIS; SCHOOL CHILD; SCORING SYSTEM; SOCIAL COGNITION; STRUCTURED INTERVIEW FOR PRODROMAL SYMPTOMS; TASK PERFORMANCE; THEORY OF MIND; WORKING MEMORY;

ADOLESCENT; ADULT; ANALYSIS OF VARIANCE; CHILD; COGNITION DISORDERS; DIGEORGE SYNDROME; FEMALE; HUMANS; MALE; MULTIVARIATE ANALYSIS; NEUROPSYCHOLOGICAL TESTS; PREDICTIVE VALUE OF TESTS; SOCIAL BEHAVIOR; YOUNG ADULT;

EID: 84869869277     PISSN: 09209964     EISSN: 15732509     Source Type: Journal    
DOI: 10.1016/j.schres.2012.10.007     Document Type: Article

References (78)

1. Ahmed A.O., Buckley P.F., Mabe P.A. Latent structure of psychotic experiences in the general population. Acta Psychiatr. Scand. 2011, 125(1):54-65.
2. Amminger G.P., Schäfer M.R., Papageorgiou K., Klier C.M., Schlögelhofer M., Mossaheb N., Werneck-Rohrer S., Nelson B., McGorry P.D. Emotion recognition in individuals at clinical high-risk for schizophrenia. Schizophr. Bull. 2012, 38(5):1030-1039.
3. Antshel K.M., Shprintzen R., Fremont W., Higgins A.M., Faraone S.V., Kates W.R. Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study. J. Am. Acad. Child Adolesc. Psychiatry 2010, 49(4):333-344.
4. Baker K.D., Skuse D.H. Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br. J. Psychiatry 2005, 186:115-120.
5. Bassett A.S., Chow E.W., AbdelMalik P., Gheorghiu M., Husted J., Weksberg R. The schizophrenia phenotype in 22q11 deletion syndrome. Am. J. Psychiatry 2003, 160(9):1580-1586.
6. Bassett A.S., Costain G., Alan Fung W.L., Russell K.J., Pierce L., Kapadia R., Carter R.F., Chow E.W., Forsythe P.J. Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J. Psychiatr. Res. 2010, 44(15):1005-1009.
7. Bearden C.E., Woodin M.F., Wang P.P., Moss E., McDonald-McGinn D., Zackai E., Emanuel B., Cannon T.D. The neurocognitive phenotype of the 22q11.2 deletion syndrome: selective deficit in visual-spatial memory. J. Clin. Exp. Neuropsychol. 2001, 23(4):447-464.
8. Bearden C.E., Glahn D.C., Lee A.D., Chiang M.C., van Erp T.G., Cannon T.D., Reiss A.L., Toga A.W., Thompson P.M. Neural phenotypes of common and rare genetic variants. Biol. Psychol. 2008, 79(1):43-57.
9. Bediou B., Krolak-Salmon P., Saoud M., Henaff M.A., Burt M., Dalery J., D'Amato T. Facial expression and sex recognition in schizophrenia and depression. Can. J. Psychiatry 2005, 50(9):525-533.
10. Blakemore S.J. The social brain in adolescence. Nat. Rev. Neurosci. 2008, 9(4):267-277.
11. Bolte S., Poustka F. The recognition of facial affect in autistic and schizophrenic subjects and their first-degree relatives. Psychol. Med. 2003, 33(5):907-915.
12. Bora E., Yucel M., Pantelis C. Theory of Mind impairment in schizophrenia: meta-analysis. Schizophr. Res. 2009, 109(1-3):1-9.
13. Butler P.D., Abeles I.Y., Weiskopf N.G., Tambini A., Jalbrzikowski M., Legatt M.E., Zemon V., Loughead J., Gur R.C., Javitt D.C. Sensory contributions to impaired emotion processing in schizophrenia. Schizophr. Bull. 2009, 35(6):1095-1107.
14. Campbell L.E., Stevens A., Daly E., Toal F., Azuma R., Karmiloff-Smith A., Murphy D.G., Murphy K.C. A comparative study of cognition and brain anatomy between two neurodevelopmental disorders: 22q11.2 deletion syndrome and Williams syndrome. Neuropsychologia 2009, 47(4):1034-1044.
15. Campbell L., McCabe K., Leadbeater K., Schall U., Loughland C., Rich D. Visual scanning of faces in 22q11.2 deletion syndrome: attention to the mouth or the eyes?. Psychiatry Res. 2010, 177(1-2):211-215.
16. Campbell L.E., Stevens A.F., McCabe K., Cruickshank L., Morris R.G., Murphy D.G., Murphy K.C. Is Theory of Mind related to social dysfunction and emotional problems in 22q11.2 deletion syndrome (velo-cardio-facial syndrome)?. J. Neurodevelopmental Disord. 2011, 3(2):152-161.
17. Cannon, Cadenhead K., Cornblatt B., Woods S.W., Addington J., Walker E., Seidman L.J., Perkins D., Tsuang M., McGlashan T., Heinssen R. Prediction of psychosis in youth at high clinical risk: a multisite longitudinal study in North America. Arch. Gen. Psychiatry 2008, 65(1):28-37.
18. Carter C.S., Barch D.M., Gur R., Pinkham A., Ochsner K. CNTRICS final task selection: social cognitive and affective neuroscience-based measures. Schizophr. Bull. 2009, 35(1):153-162.
19. Chow E.W., Watson M., Young D.A., Bassett A.S. Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophr. Res. 2006, 87(1-3):270-278.
20. Chow E., Ho A., Wei C., Voormolen E.H.J., Crawley A.P., Bassett A. Association of schizophrenia in 22q11.2 deletion syndrome and gray matter volumetric deficits in the superior temporal gyrus. Am. J. Psychiatry 2011, 10.1176/appi.ajp.2010.10081230.
21. Cornblatt B.A., Malhotra A.K. Impaired attention as an endophenotype for molecular genetic studies of schizophrenia. Am. J. Med. Genet. 2001, 105(1):11-15.
22. Corrigan P.W., Toomey R. Interpersonal problem solving and information processing in schizophrenia. Schizophr. Bull. 1995, 21(3):395-403.
23. Debbane M., Glaser B., David M.K., Feinstein C., Eliez S. Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications. Schizophr. Res. 2006, 84(2-3):187-193.
24. Dickinson D., Ramsey M.E., Gold J.M. Overlooking the obvious: a meta-analytic comparison of digit symbol coding tasks and other cognitive measures in schizophrenia. Arch. Gen. Psychiatry 2007, 64(5):532-542.
25. Dufour F., Schaer M., Debbane M., Farhoumand R., Glaser B., Eliez S. Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q 11.2 deletion syndrome. Neuropsychologia 2008, 46(12):2986-2992.
26. Eack S.M., Mermon D.E., Montrose D.M., Miewald J., Gur R.E., Gur R.C., Sweeney J.A., Keshavan M.S. Social cognition deficits among individuals at familial high risk for schizophrenia. Schizophr. Bull. 2010, 36(6):1081-1088.
27. Erwin R.J., Gur R.C., Gur R.E., Skolnick B., Mawhinney-Hee M., Smailis J. Facial emotion discrimination: I. Task construction and behavioral findings in normal subjects. Psychiatry Res. 1992, 42(3):231-240.
28. First Michael B., Spitzer Robert L, Gibbon Miriam, Williams Janet B.W. Structured Clinical Interview for DSM-IV-TR Axis I Disorders, Research Version, Patient Edition (SCID-I/P) 2002, Biometrics Research, New York State Psychiatric Institute, New York.
29. Gessler S., Cutting J., Frith C.D., Weinman J. Schizophrenic inability to judge facial emotion: a controlled study. Br. J. Clin. Psychol. 1989, 28(Pt 1):19-29.
30. Gold J.M., Carpenter C., Randolph C., Goldberg T.E., Weinberger D.R. Auditory working memory and Wisconsin Card Sorting Test performance in schizophrenia. Arch. Gen. Psychiatry 1997, 54(2):159-165.
31. Gothelf D., Feinstein C., Thompson T., Gu E., Penniman L., Van Stone E., Kwon H., Eliez S., Reiss A.L. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. Am. J. Psychiatry 2007, 164(4):663-669.
32. Gothelf D., Penniman L., Gu E., Eliez S., Reiss A.L. Developmental trajectories of brain structure in adolescents with 22q11.2 deletion syndrome: a longitudinal study. Schizophr. Res. 2007, 96(1-3):72-81.
33. Gottesman I.I., Gould T.D. The endophenotype concept in psychiatry: etymology and strategic intentions. Am. J. Psychiatry 2003, 160(4):636-645.
34. Green M.F., Bearden C.E., Cannon T.D., Fiske A.P., Hellemann G.S., Horan W.P., Kee K., Kern R.S., Lee J., Sergi M.J., Subotnik K.L., Sugar C.A., Ventura J., Yee C.M., Nuechterlein K.H. Social cognition in schizophrenia, part 1: performance across phase of illness. Schizophr. Bull. 2012, 38(4):854-864.
35. Greenwood T.A., Braff D.L., Light G.A., Cadenhead K.S., Calkins M.E., Dobie D.J., Freedman R., Green M.F., Gur R.E., Gur R.C., Mintz J., Nuechterlein K.H., Olincy A., Radant A.D., Seidman L.J., Siever L.J., Silverman J.M., Stone W.S., Swerdlow N.R., Tsuang D.W., Tsuang M.T., Turetsky B.I., Schork N.J. Initial heritability analyses of endophenotypic measures for schizophrenia: the consortium on the genetics of schizophrenia. Arch. Gen. Psychiatry 2007, 64(11):1242-1250.
36. Gur R.E., Calkins M.E., Gur R.C., Horan W.P., Nuechterlein K.H., Seidman L.J., Stone W.S. The consortium on the genetics of schizophrenia: neurocognitive endophenotypes. Schizophr. Bull. 2007, 33(1):49-68.
37. Gur R.E., Nimgaonkar V.L., Almasy L., Calkins M.E., Ragland J.D., Pogue-Geile M.F., Kanes S., Blangero J., Gur R.C. Neurocognitive endophenotypes in a multiplex multigenerational family study of schizophrenia. Am. J. Psychiatry 2007, 164(5):813-819.
38. Herbener E.S., Hill S.K., Marvin R.W., Sweeney J.A. Effects of antipsychotic treatment on emotion perception deficits in first-episode schizophrenia. Am. J. Psychiatry 2005, 162(9):1746-1748.
39. Inoue Y., Yamada K., Hirano M., Shinohara M., Tamaoki T., Iguchi H., Tonooka Y., Kanba S. Impairment of Theory of Mind in patients in remission following first episode of schizophrenia. Eur. Arch. Psychiatry Clin. Neurosci. 2006, 256(5):326-328.
40. Irani F., Platek S.M., Panyavin I.S., Calkins M.E., Kohler C., Siegel S.J., Schachter M., Gur R.E., Gur R.C. Self-face recognition and Theory of Mind in patients with schizophrenia and first-degree relatives. Schizophr. Res. 2006, 88(1-3):151-160.
41. Johns L.C., van Os J. The continuity of psychotic experiences in the general population. Clin. Psychol. Rev. 2001, 21(8):1125-1141.
42. Karayiorgou M., Simon T.J., Gogos J.A. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat. Rev. Neurosci. 2010, 11(6):402-416.
43. Kates W.R., Antshel K.M., Faraone S.V., Fremont W.P., Higgins A.M, Shprintzen R.J., Botti J.A, Kelchner L., McCarthy C. Neuroanatomic predictors to prodromal psychosis in velocardiofacial syndrome (22q11.2 deletion syndrome): a longitudinal study. Biol. Psychiatry 2011, 69(10):945-952.
44. Keefe R.S., Goldberg T.E., Harvey P.D., Gold J.M., Poe M.P., Coughenour L. The brief assessment of cognition in schizophrenia: reliability, sensitivity, and comparison with a standard neurocognitive battery. Schizophr. Res. 2004, 68(2-3):283-297.
45. Kiley-Brabeck K., Sobin C. Social skills and executive function deficits in children with the 22q11 deletion syndrome. Appl. Neuropsychol. 2006, 13(4):258-268.
46. Kohler C.G., Bilker W., Hagendoorn M., Gur R.E., Gur R.C. Emotion recognition deficit in schizophrenia: association with symptomatology and cognition. Biol. Psychiatry 2000, 48(2):127-136.
47. Kohler C.G., Walker J.B., Martin E.A., Healey K.M., Moberg P.J. Facial emotion perception in schizophrenia: a meta-analytic review. Schizophr. Bull. 2010, 36(5):1009-1019.
48. Lajiness-O'Neill R., Beaulieu I., Asamoah A., Titus J.B., Bawle E., Ahmad S., Kirk J.W., Pollack R. The neuropsychological phenotype of velocardiofacial syndrome (VCFS): relationship to psychopathology. Arch. Clin. Neuropsychol. 2006, 21(2):175-184.
49. Lieberman M.D. Social cognitive neuroscience: a review of core processes. Annu. Rev. Psychol. 2007, 58:259-289.
50. Marjoram D., Miller P., McIntosh A.M., Cunningham Owens D.G., Johnstone E.C., Lawrie S. A neuropsychological investigation into 'Theory of Mind' and enhanced risk of schizophrenia. Psychiatry Res. 2006, 144(1):29-37.
51. McDonald S., Flanagan S., Rollins J., Kinch J. TASIT: a new clinical tool for assessing social perception after traumatic brain injury. J. Head Trauma Rehabil. 2003, 18(3):219-238.
52. McDonald S., Bornhofen C., Shum D., Long E., Saunders C., Neulinger K. Reliability and validity of The Awareness of Social Inference Test (TASIT): a clinical test of social perception. Disabil. Rehabil. 2006, 28(24):1529-1542.
53. McGlashan T.H. Structured Interview for Prodromal Syndromes (SIPS) 2001, Yale University, New Haven.
54. Meyer S.E., Bearden C.E., Lux S.R., Gordon J.L., Johnson J.K., O'Brien M.P., Niendam T.A., Loewy R.L., Ventura J., Cannon T.D. The psychosis prodrome in adolescent patients viewed through the lens of DSM-IV. J. Child Adolesc. Psychopharmacol. 2005, 15(3):434-451.
55. Miller T.J., McGlashan T.H., Rosen J.L., Cadenhead K., Cannon T., Ventura J., McFarlane W., Perkins D.O., Pearlson G.D., Woods S.W. Prodromal assessment with the structured interview for prodromal syndromes and the scale of prodromal symptoms: predictive validity, interrater reliability, and training to reliability. Schizophr. Bull. 2003, 29(4):703-715.
56. Murphy K.C., Jones L.A., Owen M.J. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch. Gen. Psychiatry 1999, 56(10):940-945.
57. Novic J., Luchins D.J., Perline R. Facial affect recognition in schizophrenia. Is there a differential deficit?. Br. J. Psychiatry 1984, 144:533-537.
58. Oldham M.C., Konopka G., Iwamoto K., Langfelder P., Kato T., Horvath S., Geschwind D.H. Functional organization of the transcriptome in human brain. Nat. Neurosci. 2008, 11(11):1271-1282.
59. Penn D.L., Sanna L.J., Roberts D.L. Social cognition in schizophrenia: an overview. Schizophr. Bull. 2008, 34(3):408-411.
60. Roddy S., Tiedt L., Kelleher I., Clarke M.C., Murphy J., Rawdon C., Roche R.A., Calkins M.E., Richard J.A., Kohler C.G., Cannon M. Facial emotion recognition in adolescents with psychotic-like experiences: a school-based sample from the general population. Psychol. Med. 2012, 1-10.
61. Rojahn J., Gerhards F., Matlock S.T., Kroeger T.L. Reliability and validity studies of the Facial Discrimination Task for emotion research. Psychiatry Res. 2000, 95(2):169-181.
62. Sachs G., Steger-Wuchse D., Kryspin-Exner I., Gur R.C., Katschnig H. Facial recognition deficits and cognition in schizophrenia. Schizophr. Res. 2004, 68(1):27-35.
63. Schenkel L.S., Pavuluri M.N., Herbener E.S., Harral E.M., Sweeney J.A. Facial emotion processing in acutely ill and euthymic patients with pediatric bipolar disorder. J. Am. Acad. Child Adolesc. Psychiatry 2007, 46(8):1070-1079.
64. Schiffman J., Walker E., Ekstrom M., Schulsinger F., Sorensen H., Mednick S. Childhood videotaped social and neuromotor precursors of schizophrenia: a prospective investigation. Am. J. Psychiatry 2004, 161(11):2021-2027.
65. Schlosser D.A., Jacobson S., Chen Q., Sugar C.A., Niendam T.A., Li G., Bearden C.E., Cannon T.D. Recovery from an at-risk state: clinical and functional outcomes of putatively prodromal youth who do not develop psychosis. Schizophr. Bull. 2011, (Epub Aug 8) PMID: 21825282. http://dx.doi.org/10.1093/schbul/sbr098.
66. Sebat J., Levy D.L., McCarthy S.E. Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders. Trends Genet. 2009, 25(12):528-535.
67. Seidman L.J., Giuliano A.J., Meyer E.C., Addington J., Cadenhead K.S., Cannon T.D., McGlashan T.H., Perkins D.O., Tsuang M.T., Walker E.F., Woods S.W., Bearden C.E., Christensen B.K., Hawkins K., Heaton R., Keefe R.S., Heinssen R., Cornblatt B.A. Neuropsychology of the prodrome to psychosis in the NAPLS consortium: relationship to family history and conversion to psychosis. Arch. Gen. Psychiatry 2010, 67(6):578-588.
68. Silver H., Shlomo N., Turner T., Gur R.C. Perception of happy and sad facial expressions in chronic schizophrenia: evidence for two evaluative systems. Schizophr. Res. 2002, 55(1-2):171-177.
69. Snitz B.E., Macdonald A.W., Carter C.S. Cognitive deficits in unaffected first-degree relatives of schizophrenia patients: a meta-analytic review of putative endophenotypes. Schizophr. Bull. 2006, 32(1):179-194.
70. Spear L.P. The adolescent brain and age-related behavioral manifestations. Neurosci. Biobehav. Rev. 2000, 24(4):417-463.
71. Stefansson H., Rujescu D., Cichon S., Pietilainen O.P., Ingason A., Steinberg S., Fossdal R., Sigurdsson E., Sigmundsson T., Buizer-Voskamp J.E., Hansen T., Jakobsen K.D., Muglia P., Francks C., Matthews P.M., Gylfason A., Halldorsson B.V., Gudbjartsson D., Thorgeirsson T.E., Sigurdsson A., Jonasdottir A., Bjornsson A., Mattiasdottir S., Blondal T., Haraldsson M., Magnusdottir B.B., Giegling I., Moller H.J., Hartmann A., Shianna K.V., Ge D., Need A.C., Crombie C., Fraser G., Walker N., Lonnqvist J., Suvisaari J., Tuulio-Henriksson A., Paunio T., Toulopoulou T., Bramon E., Di Forti M., Murray R., Ruggeri M., Vassos E., Tosato S., Walshe M., Li T., Vasilescu C., Muhleisen T.W., Wang A.G., Ullum H., Djurovic S., Melle I., Olesen J., Kiemeney L.A., Franke B., Kahn R.S., Linszen D., van Os J., Wiersma D., Bruggeman R., Cahn W., Germeys I., de Haan L., Krabbendam L., Sabatti C., Freimer N.B., Gulcher J.R., Thorsteinsdottir U., Kong A., Andreassen O.A., Ophoff R.A., Georgi A., Rietschel M., Werge T., Petursson H., Goldstein D.B., Nothen M.M., Peltonen L., Collier D.A., St Clair D., Stefansson K. Large recurrent microdeletions associated with schizophrenia. Nature 2008, 455(7210):232-236.
72. Sun D., Phillips L., Velakoulis D., Yung A., McGorry P.D., Wood S.J., van Erp T.G., Thompson P.M., Toga A.W., Cannon T.D., Pantelis C. Progressive brain structural changes mapped as psychosis develops in 'at risk' individuals. Schizophr. Res. 2009, 108(1-3):85-92.
73. Surguladze S.A., Chkonia E.D., Kezeli A.R., Roinishvili M.O., Stahl D., David A.S. The McCollough effect and facial emotion discrimination in patients with schizophrenia and their unaffected relatives. Schizophr. Bull. 2012, 38(3):599-607.
74. Swillen A., Devriendt K., Legius E., Eyskens B., Dumoulin M., Gewillig M., Fryns J.P. Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS. J. Med. Genet. 1997, 34(6):453-458.
75. van Amelsvoort T., Daly E., Henry J., Robertson D., Ng V., Owen M., Murphy K.C., Murphy D.G. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. Arch. Gen. Psychiatry 2004, 61(11):1085-1096.
76. Waber D.P., Forbes P.W., Almli C.R., Blood E.A. Four-year longitudinal performance of a population-based sample of healthy children on a neuropsychological battery: the NIH MRI study of normal brain development. J. Int. Neuropsychol. Soc. 2012, 18(2):179-190.
77. Wechsler D. Wechsler Abbreviated Scale of Intelligence 1999, The Psychological Corporation, San Antonio, TX.
78. Woodin M., Wang P.P., Aleman D., McDonald-McGinn D., Zackai E., Moss E. Neuropsychological profile of children and adolescents with the 22q11.2 microdeletion. Genet. Med. 2001, 3(1):34-39.