Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome

Adaptive functioning; COMT; Factor analysis; Motivation; Schizophrenia; Velo-cardio-facial syndrome; Positive and Negative Syndrome Scale; Structural Interview for Prodromal Symptoms; Adaptation, Psychological; Adolescent; Catechol O-Methyltransferase; Child; Cognition Disorders; DiGeorge Syndrome; Factor Analysis, Statistical; Female; Humans; Intelligence; Male; Neuropsychological Tests; Polymorphism, Genetic; Predictive Value of Tests; Psychiatric Status Rating Scales; Severity of Illness Index; Young Adult

Abstract :

[en] Current research in schizophrenia suggests that negative symptoms cannot be considered a unitary construct and should be divided in two dimensions: lack of motivation and impoverishment of expression. In addition, negative symptoms are particularly related to decreased daily-life functioning. In the present study, we aimed to replicate these results in a sample of participants with 22q11.2 deletion syndrome (22q11DS), a neurogenetic condition associated with high risk of developing schizophrenia. We also expected to observe an association between the COMT Val/Met polymorphism and negative symptoms. We examined the factorial structure of negative symptoms in a sample of 47 individuals with 22q11DS using the Structured Interview for Prodromal Symptoms (SIPS) and the Positive and Negative Syndrome Scale (PANSS). We also performed stepwise regression analyses to investigate the associations between negative symptoms, adaptive skills and the COMT Val/Met polymorphism. Negative symptoms were explained by a two-factor solution, namely the "amotivation and social withdrawal" and the "emotional withdrawal and expression" dimensions. The motivational dimension was significantly associated with daily-life functioning. Met carriers were rated as experiencing significantly more symptoms of amotivation. The results are interpreted in the light of existing cognitive models in the field of motivation and schizophrenia. © 2012 Elsevier Ltd.

Disciplines :

Neurosciences & behavior

Author, co-author :

Schneider, Maude; Université de Genève - UNIGE > Office Médico-Pédagogique Research Unit

Van der Linden, Martial ; Université de Liège - ULiège > Département de Psychologie > Département de Psychologie

Glaser, Bronwyn Glaser; Université de Genève - UNIGE > Office Médico-Pédagogique Research Unit

Rizzi, Eleonora; Université de Genève - UNIGE > Office Médico-Pédagogique Research Unit

Dahoun, Sophie P.; Université de Genève - UNIGE > Department of Genetic Medicine and Development

Hinard, Christine; Université de Genève - UNIGE > Department of Genetic Medicine and Development

Bartoloni, Lucia; Université de Genève - UNIGE > Department of Genetic Medicine and Development

Antonarakis, Stylianos E.; Université de Genève - UNIGE > Department of Genetic Medicine and Development

Debbané, Martin; Université de Genève - UNIGE > Faculty of Psychology

Eliez, Stephan; Université de Genève - UNIGE > Office Médico-Pédagogique Research Unit

Language :

English

Title :

Preliminary structure and predictive value of attenuated negative symptoms in 22q11.2 deletion syndrome

Publication date :

2012

Journal title :

Psychiatry Research

ISSN :

0165-1781

eISSN :

1872-7123

Publisher :

North-Holland Biomedical Press, Netherlands
Elsevier, Netherlands

Volume :

196

Issue :

2-3

Pages :

277-284

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 16 January 2020

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Bibliography

Achenbach T.M. Manual for the Child Behavior Checklist/4-18 and 1991 profile 1991, University of Vermont Department of Psychiatry, Burlington.
Aleman A., Kahn R.S. Strange feelings: do amygdala abnormalities dysregulate the emotional brain in schizophrenia?. Progress in Neurobiology 2005, 77(5):283-298.
Aoki J., Iwahashi K., Ishigooka J., Ikeda K. Association study on catechol-O-methyltransferase (COMT) Val158Met gene polymorphism and NEO-FFI. Psychiatry Research 2011, 187(1-2):312-313.
Baker K.D., Baldeweg T., Sivagnanasundaram S., Scambler P., Skuse D. COMT Val108/158 Met modifies mismatch negativity and cognitive function in 22q11 deletion syndrome. Biological Psychiatry 2005, 58(1):23-31.
Baker K.D., Skuse D.H. Adolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. The British Journal of Psychiatry 2005, 186:115-120.
Barch D.M., Dowd E.C. Goal representations and motivational drive in schizophrenia: the role of prefrontal-striatal interactions. Schizophrenia Bulletin 2010, 36(5):919-934.
Bassett A.S., Caluseriu O., Weksberg R., Young D.A., Chow E.W.C. Catechol-O-methyl transferase and expression of schizophrenia in 73 adults with 22q11 deletion syndrome. Biological Psychiatry 2007, 61(10):1135-1140.
Bassett A.S., Chow E.W.C. Schizophrenia and 22q11.2 Deletion Syndrome. Current Psychiatry Reports 2008, 10(2):148-157.
Bearden C.E., Jawad A.F., Lynch D.R., Monterossso J.R., Sokol S., McDonald-McGinn D.M., Saitta S.C., Harris S.E., Moss E., Wang P.P., Zackai E., Emanuel B.S., Simon T.J. Effects of COMT genotype on behavioral symptomatology in the 22q11.2 Deletion Syndrome. Child Neuropsychology 2005, 11(1):109-117.
Bearden C.E., Jawad A.F., Lynch D.R., Sokol S., Kanes S.J., McDonald-McGinn D.M., Saitta S.C., Harris S.E., Moss E., Wang P.P., Zackai E., Emanuel B.S., Simon T.J. Effects of a functional COMT polymorphism on prefrontal cognitive function in patients with 22q11.2 deletion syndrome. The American Journal of Psychiatry 2004, 161(9):1700-1702.
Beck A., Rector N., Stolar N., Grant P. Schizophrenia: cognitive theory, research, and therapy 2009, The Guilford Press, New York.
Bentall R. Madness explained: psychosis and human nature 2003, Penguin Books, London.
Blanchard J., Cohen A.S. The structure of negative symptoms within schizophrenia: implications for assessment. Schizophrenia Bulletin 2006, 32(2):238-245.
Blanchard J., Kring A., Horan W., Gur R. Toward the next generation of negative symptom assessments: the Collaboration to Advance Negative Symptom Assessment in Schizophrenia. Schizophrenia Bulletin 2011, 37(2):291-299.
Blanchard J., Mueser K.T., Bellack A.S. Anhedonia, positive and negative affect, and social functioning in schizophrenia. Schizophrenia Bulletin 1998, 24(3):413-424.
Brill N., Levine S.Z., Reichenberg A., Lubin G., Weiser M., Rabinowitz J. Pathways to functional outcomes in schizophrenia: the role of premorbid functioning, negative symptoms and intelligence. Schizophrenia Research 2009, 110(1-3):40-46.
Brown R.G., Pluck G. Negative symptoms: the 'pathology' of motivation and goal-directed behaviour. Trends in Neurosciences 2000, 23:412-417.
Cannon T.D., 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. Archives of General Psychiatry 2008, 65(1):28-37.
Chen J., Lipska B.K., Halim N., Ma Q.D., Matsumoto M., Melhem S., Kolachana B.S., Hyde T.M., Herman M.M., Apud J., Egan M.F., Kleinman J.E., Weinberger D.R. Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. American Journal of Human Genetics 2004, 75(5):807-821.
Debbane M., Glaser B., David M., Feinstein C., Eliez S. Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: neuropsychological and behavioral implications. Schizophrenia Research 2006, 84:187-193.
Eliez S., Debbane M. Why are children and adolescents with 22q11.2 Deletion Syndrome at high risk of developing schizophrenia?. European Psychiatric Review 2008, 51-55.
Escher S., Romme M., Buiks A., Delespaul P., Van Os J. Independent course of childhood auditory hallucinations: a sequential 3-year follow-up study. The British Journal of Psychiatry 2002, 181(43):10-18.
Forbes C., Blanchard J., Bennett M., Horan W., Kring A., Gur R. Initial development and preliminary validation of a new negative symptom measure: The Clinical Assessment Interview for Negative Symptoms (CAINS). Schizophrenia Research 2010, 124(1-3):36-42.
Foussias G., Mann S., Zakzanis K.K., Van Reekum R., Remington G. Motivational deficits as the central link to functioning in schizophrenia: a pilot study. Schizophrenia Research 2009, 115(2-3):333-337.
Garety P., Kuipers E., Fowler D., Freeman D., Bebbington P. A cognitive model of the positive symptoms of psychosis. Psychological Medicine 2001, 31:189-195.
Goldman-Rakic P.S., Muly E.C., Williams G.V. D(1) receptors in prefrontal cells and circuits. Brain Research Reviews 2000, 31(2-3):295-301.
Gothelf D., Eliez S., Thompson T., Hinard C., Penniman L., Feinstein C., Kwon H., Jin S., Jo B., Antonarakis S.E., Morris M.A., Reiss A.L. COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nature Neuroscience 2005, 8(11):1500-1502.
Gothelf D., Feinstein C., Thompson T., Gu E., Penniman L., Van Stone E., Kwon H., Eliez S., Reiss A. Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. The American Journal of Psychiatry 2007, 164:663-669.
Green T., Gothelf D., Glaser B., Debbane M., Frisch A., Kotler M., Weizman A., Eliez S. Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. Journal of the American Academy of Child and Adolescent Psychiatry 2009, 48(11):1060-1068.
Greenwood K.E., Landau S., Wykes T. Negative symptoms and specific cognitive impairments as combined targets for improved functional outcome within cognitive remediation therapy. Schizophrenia Bulletin 2005, 31(4):910-921.
Grossberg S. The imbalanced brain: from normal behavior to schizophrenia. Biological Psychiatry 2000, 48:81-98.
Hawkins K.A., McGlashan T.H., Quinlan D., Miller T.J., Perkins D.O., Zipursky R.B., Addington J., Woods S.W. Factorial structure of the Scale of Prodromal Symptoms. Schizophrenia Research 2004, 68(2-3):339-347.
Henry J.C., Van Amelsvoort T., Morris R.G., Owen M.J., Murphy D.G.M., Murphy K.C. An investigation of the neuropsychological profile in adults with velo-cardio-facial syndrome (VCFS). Neuropsychologia 2002, 40(5):471-478.
Herbener E.S., Harrow M., Hill S.K. Change in the relationship between anhedonia and functional deficits over a 20-year period in individuals with schizophrenia. Schizophrenia Research 2005, 75(1):97-105.
Hoenicka J., Garrido E., Martínez I., Ponce G., Aragüés M., Rodríguez-Jiménez R., España-Serrano L., Alvira-Botero X., Santos J.L., Rubio G., Jiménez-Arriero M.A., Palomo T., PARG Gender-specific COMT Val158Met polymorphism association in Spanish schizophrenic patients. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 2010, 153B(1):79-85.
Huppert J.D., Smith T.E. Anxiety and schizophrenia: the interaction of subtypes of anxiety and psychotic symptoms. CNS Spectrums 2005, 10(9):721-731.
Jansen P.W., Duijff S.N., Beemer F.A., Vorstman J.A.S., Klaassen P.W.J., Morcus M.E.J., Heineman-de Boer J.A. Behavioral problems in relation to intelligence in children with 22q11.2 deletion syndrome: a matched control study. American Journal of Medical Genetics. Part A 2007, 143(6):574-580.
Kay S.R., Fiszbein A., Opler L.A. The Positive and Negative Syndrome Scale (PANSS) for schizophrenia. Schizophrenia Bulletin 1987, 13(2):261-276.
Keefe R.S.E., Harvey P.D., Lenzenweger M.F., Davidson M., Apter S.H., Schmeidler J., Mohs R.C., Davis K. Empirical assessment of the factorial structure of clinical symptoms in schizophrenia: negative symptoms. Psychiatry Research 1992, 44:153-165.
Kirkpatrick B., Fenton W.S., Carpenter W.T., Marder S.R. The NIMH-MATRICS consensus statement on negative symptoms. Schizophrenia Bulletin 2006, 32(2):214-219.
Lachman H., Papolos D., Saito T., Yu Y., Szumlanski C., Weinshilboum R. Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics 1996, 6(3):243-250.
Lançon C., Aghababian V., Llorca P.M., Auquier P. Factorial structure of the Positive and Negative Syndrome Scale (PANSS): a forced five-dimensional factor analysis. Acta Psychiatrica Scandinavica 1998, 97:369-376.
Lançon C., Aghababian V., Llorca P.M., Bernard D., Auquier P. An exploration of the psychometric properties of the French version of the Positive and Negative Syndrome Scale. Canadian Journal of Psychiatry 1999, 44(9):893-900.
Lançon C., Reine G., Llorca P.M., Auquier P. Validity and reliability of the French-language version of the Positive and Negative Syndrome Scale (PANSS). Acta Psychiatrica Scandinavica 1999, 100(3):237-243.
Lysaker P.H., Salyers M.P. Anxiety symptoms in schizophrenia spectrum disorders: associations with social function, positive and negative symptoms, hope and trauma history. Acta Psychiatrica Scandinavica 2007, 116(4):290-298.
McGlashan T.H., Miller T.J., Woods S.W., Rosen J.L., Hoffman R.E., Davidson L. Structured Interview for Prodromal Syndromes (SIPS; Version 4.0, unpublished manuscript) 2001, PRIME Research Clinic, Yale University, School of Medicine, New Heaven, Conneticut.
Messinger J., Trémeau F., Antonius D., Mendelsohn E., Prudent V., Stanford A., Malaspina D. Avolition and expressive deficits capture negative symptom phenomenology: implication for DSM-5 and schizophrenia research. Clinical Psychology Review 2011, 31(1):161-168.
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. Schizophrenia Bulletin 2003, 29(4):703-715.
Moukas G., Gourzis P., Beratis I.N., Beratis S. Sex differences in prepsychotic "prodromal" symptomatology and its association with Positive and Negative Syndrome Scale active phase psychopathology in male and female patients. Comprehensive Psychiatry 2010, 51(5):546-551.
Murphy K. Annotation: velo-cardio-facial syndrome. Journal of Child Psychology and Psychiatry 2005, 46(6):563-571.
Murphy K., Jones L., Owen M. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Archives of General Psychiatry 1999, 56(10):940-945.
Oskarsdottir S., Vujic M., Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in western Sweden. Archives of Disease in Childhood 2004, 89(2):148-151.
Peralta V., Cuesta M.J. Negative symptoms in schizophrenia: a confirmatory factor analysis of competing models. The American Journal of Psychiatry 1995, 152:1450-1457.
Prasad S.E., Howley S., Murphy K.C. Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome. Developmental Disabilities Research Reviews 2008, 14(1):26-34.
Raux G., Bumsel E., Hecketsweiler B., van Amelsvoort T., Zinkstok J., Manouvrier-Hanu S., Fantini C., Brévière G.-M.M., Di Rosa G., Pustorino G., Vogels A., Swillen A., Legallic S., Bou J., Opolczynski G., Drouin-Garraud V., Lemarchand M., Philip N., Gérard-Desplanches A., Carlier M., Philippe A., Nolen M.C., Heron D., Sarda P., Lacombe D., Coizet C., Alembik Y., Layet V., Afenjar A., Hannequin D., Demily C., Petit M., Thibaut F., Frebourg T., Campion D. Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. Human Molecular Genetics 2007, 16(1):83-91.
Rocca P., Montemagni C., Castagna F., Giugiario M., Scalese M., Bogetto F. Relative contribution of antipsychotics, negative symptoms and executive functions to social functioning in stable schizophrenia. Progress in Neuropsychopharmacology and Biological Psychiatry 2009, 33(2):373-379.
Schweiger Gallo I., Gollwitzer P.M. Implementation intentions: a look back at fifteen years of progress. Psicothema 2007, 19(1):37-42.
Shashi V., Howard T.D., Keshavan M.S., Kaczorowski J., Berry M.N., Schoch K., Spence E.J., Kwapil T.R. COMT and anxiety and cognition in children with chromosome 22q11.2 deletion syndrome. Psychiatry Research 2010, 178(2):433-436.
Shashi V., Keshavan M.S., Howard T.D., Berry M.N., Basehore M.J., Lewandowski E., Kwapil T.R. Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. Clinical Genetics 2006, 69(3):234-238.
Silver H., David D., Kaplan M., Hadjez J., Tubi N., Darnel A., Calev A., Lerer B. Factor analysis of schizophrenic symptoms and comparison of different rating scales. Schizophrenia Research 1993, 10:67-75.
Sparrow S.S., Balla D.A., Cicchetti D.V. Vineland Adaptive Behavior Scales 1984, American Guidance Service, Circle Pines, MN.
Stoddard J., Niendam T., Hendren R., Carter C., Simon T.J. Attenuated positive symptoms of psychosis in adolescents with chromosome 22q11.2 deletion syndrome. Schizophrenia Research 2010, 118(1-3):118-121.
Tunbridge E.M., Harrison P.J., Weinberger D.R. Catechol-o-methyltransferase, cognition, and psychosis: Val158Met and beyond. Biological Psychiatry 2006, 60(2):141-151.
Van der Gaag M., Cuijpers A., Hoffman T., Remijsen M., Hijman R., de Haan L., van Meijel B., van Harten P.N., Valmaggia L., De Hert M., Wiersma D. The five-factor model of the Positive and Negative Syndrome Scale I: Confirmatory factor analysis fails to confirm 25 published five-factor solutions. Schizophrenia Research 2006, 85:273-279.
Velligan D.I., Alphs L., Lancaster S., Morlock R., Mintz J. Association between changes on the Negative Symptom Assessment scale (NSA-16) and measures of functional outcome in schizophrenia. Psychiatry Research 2009, 169(2):97-100.
Velthorst E., Nieman D.H., Becker H.E., van de Fliert R., Dingemans P.M., Klaassen R., de Haan L., van Amelsvoort T., Linszen D.H. Baseline differences in clinical symptomatology between ultra high risk subjects with and without a transition to psychosis. Schizophrenia Research 2009, 109(1-3):60-65.
Ventura J., Hellemann G.S., Thames A.D., Koellner V., Nuechterlein K.H. Symptoms as mediators of the relationship between neurocognition and functional outcome in schizophrenia: a meta-analysis. Schizophrenia Research 2009, 113(2-3):189-199.
Vorstman J.A.S., Morcus M.E.J., Duijff S.N., Klaassen P.W.J., Heineman-de Boer J.A., Beemer F.A., Swaab H., Kahn R.S., van Engeland H. The 22q11.2 deletion in children: high rate of autistic disorders and early onset of psychotic symptoms. Journal of the American Academy of Child and Adolescent Psychiatry 2006, 45(9):1104-1113.
Wang Y., Fang Y., Shen Y., Xu Q. Analysis of association between the catechol-O-methyltransferase (COMT) gene and negative symptoms in chronic schizophrenia. Psychiatry Research 2010, 179(2):147-150.
Wechsler D. Wechsler Intelligence Scale for Children - Third edition. Manual 1991, The Psychological Corporation, San Antonio, TX.
Wechsler D. Wechsler Adult Intelligence Scale - Third edition. Administration and Scoring manual 1997, The Psychological Corporation, San Antonio, TX.