Skip to main content
×
Home
    • Aa
    • Aa
  • Get access
    Check if you have access via personal or institutional login
  • Cited by 13
  • Cited by
    This article has been cited by the following publications. This list is generated based on data provided by CrossRef.

    King, Bryan H. 2016. Psychiatric comorbidities in neurodevelopmental disorders. Current Opinion in Neurology, Vol. 29, Issue. 2, p. 113.


    Gur, Raquel E. 2016. The Neuropsychopathology of Schizophrenia.


    Demily, Caroline and Franck, Nicolas 2016. Cognitive behavioral therapy in 22q11.2 microdeletion with psychotic symptoms: What do we learn from schizophrenia?. European Journal of Medical Genetics,


    Biswas, Asit B. and Furniss, Frederick 2016. Cognitive phenotype and psychiatric disorder in 22q11.2 deletion syndrome: A review. Research in Developmental Disabilities, Vol. 53-54, p. 242.


    van Duin, Esther D. A. Goossens, Liesbet Hernaus, Dennis da Silva Alves, Fabiana Schmitz, Nicole Schruers, Koen and van Amelsvoort, Therese 2016. Neural correlates of reward processing in adults with 22q11 deletion syndrome. Journal of Neurodevelopmental Disorders, Vol. 8, Issue. 1,


    Dori, Netta Green, Tamar Weizman, Abraham and Gothelf, Doron 2015. The Effectiveness and Safety of Antipsychotic and Antidepressant Medications in Individuals with 22q11.2 Deletion Syndrome. Journal of Child and Adolescent Psychopharmacology, p. 150701133347006.


    Gur, R E Yi, J J McDonald-McGinn, D M Tang, S X Calkins, M E Whinna, D Souders, M C Savitt, A Zackai, E H Moberg, P J Emanuel, B S and Gur, R C 2014. Neurocognitive development in 22q11.2 deletion syndrome: comparison with youth having developmental delay and medical comorbidities. Molecular Psychiatry, Vol. 19, Issue. 11, p. 1205.


    Mariano, Margaret A. Tang, Kerri Kurtz, Matthew and Kates, Wendy R. 2015. Cognitive remediation for adolescents with 22q11 deletion syndrome (22q11DS): A preliminary study examining effectiveness, feasibility, and fidelity of a hybrid strategy, remote and computer-based intervention. Schizophrenia Research, Vol. 166, Issue. 1-3, p. 283.


    Yi, James J. Tang, Sunny X. McDonald-McGinn, Donna M. Calkins, Monica E. Whinna, Daneen A. Souders, Margaret C. Zackai, Elaine H. Goldmuntz, Elizabeth Gaynor, James W. Gur, Ruben C. Emanuel, Beverly S. and Gur, Raquel E. 2014. Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Vol. 165, Issue. 2, p. 137.


    Kelley, L. Sanders, A. F. P. and Beaton, E. A. 2016. Vitamin D deficiency, behavioral atypicality, anxiety and depression in children with chromosome 22q11.2 deletion syndrome. Journal of Developmental Origins of Health and Disease, p. 1.


    Fung, Wai Lun Alan Butcher, Nancy J. Costain, Gregory Andrade, Danielle M. Boot, Erik Chow, Eva W.C. Chung, Brian Cytrynbaum, Cheryl Faghfoury, Hanna Fishman, Leona García-Miñaúr, Sixto George, Susan Lang, Anthony E. Repetto, Gabriela Shugar, Andrea Silversides, Candice Swillen, Ann van Amelsvoort, Therese McDonald-McGinn, Donna M. and Bassett, Anne S. 2015. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genetics in Medicine, Vol. 17, Issue. 8, p. 599.


    Leleu, Arnaud Saucourt, Guillaume Rigard, Caroline Chesnoy, Gabrielle Baudouin, Jean-Yves Rossi, Massimiliano Edery, Patrick Franck, Nicolas and Demily, Caroline 2016. Facial emotion perception by intensity in children and adolescents with 22q11.2 deletion syndrome. European Child & Adolescent Psychiatry, Vol. 25, Issue. 3, p. 297.


    Meechan, Daniel W. Maynard, Thomas M. Tucker, Eric S. Fernandez, Alejandra Karpinski, Beverly A. Rothblat, Lawrence A. and LaMantia, Anthony-S. 2015. Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development. Progress in Neurobiology, Vol. 130, p. 1.


    ×

Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated

  • S. X. Tang (a1), J. J. Yi (a2), M. E. Calkins (a1), D. A. Whinna (a1), C. G. Kohler (a1), M. C. Souders (a3), D. M. McDonald-McGinn (a3), E. H. Zackai (a3) (a4), B. S. Emanuel (a3) (a4), R. C. Gur (a1) and R. E. Gur (a1)
  • DOI: http://dx.doi.org/10.1017/S0033291713001669
  • Published online: 09 September 2013
Abstract
Background

Chromosome 22q11.2 deletion syndrome (22q11DS) is a common genetic disorder with high rates of psychosis and other psychopathologies, but few studies discuss treatment. Our aim was to characterize the prevalence and treatment of major psychiatric illnesses in a well-characterized sample of individuals with 22q11DS.

Method

This was a cross-sectional study of 112 individuals aged 8 to 45 years with a confirmed diagnosis of 22q11DS. Each participant was administered a modified Schedule for Affective Disorders and Schizophrenia for School-Age Children (K-SADS) and the Structured Interview for Prodromal Syndromes (SIPS). Phenotypes assessed were threshold and subthreshold psychosis, depression, mania, generalized and separation anxiety, obsessions/compulsions, inattention/hyperactivity and substance use. Histories of mental health care and current psychotropic treatment were obtained.

Results

Psychopathology was common, with 79% of individuals meeting diagnostic criteria for a disorder at the time of assessment. Diagnoses of psychosis were made in 11% of cases, attenuated positive symptom syndrome (APS) in 21%, and 47% experienced significant subthreshold symptoms. Peak occurrence of psychosis risk was during adolescence (62% of those aged 12–17 years). Criteria for a mood disorder were met by 14%, for anxiety disorder 34% and for attention deficit hyperactivity disorder (ADHD) 31%. Mental health care had been received by 63% of individuals in their lifetime, but only 40% continued therapy and 39% used psychotropics. Antipsychotics were used by 42% of participants with psychosis and none of the participants with APS. Half of those at risk for psychosis were receiving no mental health care.

Conclusions

Psychopathology is common in 22q11DS but is not adequately treated or clinically followed. Particular attention should be paid to subthreshold psychotic symptoms, especially in adolescents.

Copyright
Corresponding author
*Address for correspondence: R. E. Gur, M.D., Ph.D., Neuropsychiatry Section, University of Pennsylvania, Perelman School of Medicine, 10th Floor Gates Building, Philadelphia, PA 19104, USA. (Email: raquel@upenn.edu)
Linked references
Hide All

This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.

KM Antshel , W Fremont , NJ Roizen , R Shprintzen , AM Higgins , A Dhamoon , WR Kates (2006). ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velocardiofacial syndrome. Journal of the American Academy of Child and Adolescent Psychiatry 45, 596603.

KM Antshel , R Shprintzen , W Fremont , AM Higgins , SV Faraone , WR Kates (2010). Cognitive and psychiatric predictors to psychosis in velocardiofacial syndrome: a 3-year follow-up study. Journal of the American Academy of Child and Adolescent Psychiatry 49, 333344.

AS Bassett , EW Chow (2008). Schizophrenia and 22q11.2 deletion syndrome. Current Psychiatry Reports 10, 148157.

AS Bassett , EW Chow , P AbdelMalik , M Gheorghiu , J Husted , R Weksberg (2003). The schizophrenia phenotype in 22q11 deletion syndrome. American Journal of Psychiatry 160, 15801586.

AS Bassett , DM McDonald-McGinn , K Devriendt , MC Digilio , P Goldenberg , A Habel , B Marino , S Oskarsdottir , N Philip , K Sullivan , A Swillen , J Vorstman ; International 22q11.2 Deletion Syndrome Consortium (2011). Practical guidelines for managing patients with 22q11.2 deletion syndrome. Journal of Pediatrics 159, 332–9.e1.

LD Botto , K May , PM Fernhoff , A Correa , K Coleman , SA Rasmussen , RK Merritt , LA O'Leary , L-Y Wong , EM Elixson (2003). A population-based study of the 22q11. 2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 112, 101107.

L Dreessen , A Arntz (1998). Short-interval test-retest interrater reliability of the Structured Clinical Interview for DSM-III-R personality disorders (SCID-II) in outpatients. Journal of Personality Disorders 12, 138148.

A Fabbro , E Rizzi , M Schneider , M Debbane , S Eliez (2012). Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS). European Child and Adolescent Psychiatry 21, 379385.

PC Goldenberg , ME Calkins , J Richard , D McDonald-McGinn , E Zackai , N Mitra , B Emanuel , M Devoto , K Borgmann-Winter , C Kohler , CG Conroy , RC Gur , RE Gur (2012). Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and at-risk for psychosis. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics 159B, 8793.

D Gothelf , C Feinstein , T Thompson , E Gu , L Penniman , E Van Stone , H Kwon , S Eliez , AL Reiss (2007). Risk factors for the emergence of psychotic disorders in adolescents with 22q11.2 deletion syndrome. American Journal of Psychiatry 164, 663669.

T Green , D Gothelf , B Glaser , M Debbane , A Frisch , M Kotler , A Weizman , S Eliez (2009). Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. Journal of the American Academy of Child and Adolescent Psychiatry 48, 10601068.

RE Gur , C Kohler , BI Turetsky , SJ Siegel , SJ Kanes , WB Bilker , AR Brennan , RC Gur (2004). A sexually dimorphic ratio of orbitofrontal to amygdala volume is altered in schizophrenia. Biological Psychiatry 55, 512517.

H Hafner , W an der Heiden , S Behrens , WF Gattaz , M Hambrecht , W Loffler , K Maurer , P Munk-Jorgensen , B Nowotny , A Riecher-Rossler , A Stein (1998). Causes and consequences of the gender difference in age at onset of schizophrenia. Schizophrenia Bulletin 24, 99113.

AF Jawad , DM McDonald-McGinn , E Zackai , KE Sullivan (2001). Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Journal of Pediatrics 139, 715723.

EM Jolin , RA Weller , NR Jessani , EH Zackai , DM McDonald-McGinn , EB Weller (2009). Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 deletion syndrome. Journal of Affective Disorders 119, 177180.

EM Jolin , RA Weller , EB Weller (2012). Occurrence of affective disorders compared to other psychiatric disorders in children and adolescents with 22q11.2 deletion syndrome. Journal of Affective Disorders 136, 222228.

J Kaufman , B Birmaher , D Brent , U Rao , C Flynn , P Moreci , D Williamson , N Ryan (1997). Schedule for Affective Disorders and Schizophrenia for School-Age Children – Present and Lifetime Version (K-SADS-PL): initial reliability and validity data. Journal of the American Academy of Child and Adolescent Psychiatry 36, 980988.

DM McDonald-McGinn , MK Tonnesen , A Laufer-Cahana , B Finucane , DA Driscoll , BS Emanuel , EH Zackai (2001). Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genetics in Medicine 3, 2329.

KR Merikangas , J-P He , J Rapoport , B Vitiello , M Olfson (2013). Medication use in US youth with mental disorders. JAMA Pediatrics 167, 141148.

KR Merikangas , MJ-P He , M Burstein , MSA Swanson , S Avenevoli , ML Cui , C Benjet , K Georgiades , J Swendsen (2010). Lifetime prevalence of mental disorders in US adolescents: results from the National Comorbidity Study – Adolescent Supplement (NCS-A). Journal of the American Academy of Child and Adolescent Psychiatry 49, 980989.

E Michaelovsky , A Frisch , M Carmel , M Patya , O Zarchi , T Green , L Basel-Vanagaite , A Weizman , D Gothelf (2012). Genotype-phenotype correlation in 22q11.2 deletion syndrome. BMC Medical Genetics 13, 122.

TJ Miller , TH McGlashan , JL Rosen , K Cadenhead , T Cannon , J Ventura , W McFarlane , DO Perkins , GD Pearlson , SW Woods (2003). 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 29, 703715.

KC Murphy , LA Jones , MJ Owen (1999). High rates of schizophrenia in adults with velo-cardio-facial syndrome. Archives of General Psychiatry 56, 940945.

L Niklasson , P Rasmussen , S Oskarsdóttir , C Gillberg (2009). Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Research in Developmental Disabilities 30, 763773.

MJ Schreiner , MT Lazaro , M Jalbrzikowski , CE Bearden (2013). Converging levels of analysis on a genomic hotspot for psychosis: insights from 22q11.2 deletion syndrome. Neuropharmacology 68, 157173.

DI Shapiro , JF Cubells , OY Ousley , K Rockers , EF Walker (2011). Prodromal symptoms in adolescents with 22q11.2 deletion syndrome and schizotypal personality disorder. Schizophrenia Research 129, 2028.

J Stoddard , T Niendam , R Hendren , C Carter , TJ Simon (2010). Attenuated positive symptoms of psychosis in adolescents with chromosome 22q11.2 deletion syndrome. Schizophrenia Research 118, 118121.

JA Vorstman , ME Morcus , SN Duijff , PW Klaassen , JA Heineman-de Boer , FA Beemer , H Swaab , RS Kahn , H van Engeland (2006). 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 45, 11041113.

RJ Wapner , CL Martin , B Levy , BC Ballif , CM Eng , JM Zachary , M Savage , LD Platt , D Saltzman , WA Grobman , S Klugman , T Scholl , JL Simpson , K McCall , VS Aggarwal , B Bunke , O Nahum , A Patel , AN Lamb , EA Thom , AL Beaudet , DH Ledbetter , LG Shaffer , L Jackson (2012). Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine 367, 21752184.

Recommend this journal

Email your librarian or administrator to recommend adding this journal to your organisation's collection.

Psychological Medicine
  • ISSN: 0033-2917
  • EISSN: 1469-8978
  • URL: /core/journals/psychological-medicine
Please enter your name
Please enter a valid email address
Who would you like to send this to? *
×

Keywords: