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Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome

Published online by Cambridge University Press:  15 April 2020

O.Y. Ousley ,
E. Smearman ,
S. Fernandez-Carriba ,
K.A. Rockers ,
K. Coleman ,
E.F. Walker  and
J.F. Cubells
O.Y. Ousley*
Affiliation:
Emory University School of Medicine, Emory Autism Center, Department of Psychiatry and Behavioral Sciences, 1551 Shoup Court, 30322Atlanta, Georgia, United States
E. Smearman
Affiliation:
Medical Scientist Training Program, Emory University School of Medicine, School of Medicine Bldg., Suite 375-B, 1648 Pierce Drive, 30322Atlanta, Georgia, United States Emory University Rollins School of Public Health, Department of Behavioral Sciences and Health Education30322Atlanta, Georgia, United States
S. Fernandez-Carriba
Affiliation:
Emory University School of Medicine, Emory Autism Center, Department of Psychiatry and Behavioral Sciences, 1551 Shoup Court, 30322Atlanta, Georgia, United States Emory University, Departments of Pediatrics30322Atlanta, Georgia, United States
K.A. Rockers
Affiliation:
Emory University School of Medicine, Department of Human Genetics30322Atlanta, Georgia, United States
K. Coleman
Affiliation:
Emory University School of Medicine, Department of Human Genetics30322Atlanta, Georgia, United States Children's Healthcare of Atlanta, 1405 Clifton Road NE, 30322Atlanta, Georgia, United States Nell Hodgson Woodruff School of Nursing30322Atlanta, Georgia, United States
E.F. Walker
Affiliation:
Emory University School of Medicine, Emory Autism Center, Department of Psychiatry and Behavioral Sciences, 1551 Shoup Court, 30322Atlanta, Georgia, United States Emory University, Department of Psychology30322Atlanta, Georgia, United States
J.F. Cubells
Affiliation:
Emory University School of Medicine, Emory Autism Center, Department of Psychiatry and Behavioral Sciences, 1551 Shoup Court, 30322Atlanta, Georgia, United States Emory University School of Medicine, Department of Human Genetics30322Atlanta, Georgia, United States
*
*Corresponding author. Tel.: +1 404 727 8350; fax: +1 404 727 3969. E-mail address:oousley@emory.edu (O.Y. Ousley).
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Abstract

Background

22q11.2 deletion syndrome (22q11DS) associates with schizophrenia spectrum disorders (SSDs), autism spectrum disorders (ASDs), and other psychiatric disorders, but co-occurrence of diagnoses are not well described.

Methods

We evaluated the co-occurrence of SSDs, ASDs and other axis I psychiatric diagnoses in 31 adolescents and adults with 22q11DS, assessing ASDs using either stringent Collaborative Program for Excellence in Autism (ASD-CPEA) criteria, or less stringent DSM-IV criteria alone (ASD-DSM-IV).

Results

Ten (32%) individuals met criteria for an SSD, five (16%) for ASD-CPEA, and five others (16%) for ASD-DSM-IV. Of those with ASD-CPEA, one (20%) met SSD criteria. Of those with ASD-DSM-IV, four (80%) met SSD criteria. Depressive disorders (8 individuals; 26%) and anxiety disorders (7; 23%) sometimes co-occurred with SSDs and ASDs. SSDs, ASDs, and anxiety occurred predominantly among males and depression predominantly among females.

Conclusions

Individuals with 22q11DS can manifest SSDs in the presence or absence of ASDs and other axis I diagnoses. The results suggest that standard clinical care should include childhood screening for ASDs, and later periodic screening for all axis I diagnoses.

Keywords

Schizophrenia and psychosisAutismAffective disordersAnxiety disordersGenetics
Type
Original article
Information
European Psychiatry , Volume 28 , Issue 7 , September 2013 , pp. 417 - 422
Copyright
Copyright © European Psychiatric Association

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References

Antshel, KM, Aneja, A, Strunge, L, Peebles, J, Fremont, WP, Stallone, K, et al.Autistic spectrum disorders in velo-cardio facial syndrome (22q11.2 deletion). J Autism Dev Disord 2007;37(9):1776–1786 [Epub 2006/12/21].CrossRefGoogle Scholar
Antshel, KM, Fremont, W, Roizen, NJ, Shprintzen, R, Higgins, AM, Dhamoon, A, et al.ADHD, major depressive disorder, and simple phobias are prevalent psychiatric conditions in youth with velo-cardio-facial syndrome. J Am Acad Child Adolesc Psychiatry 2006;45(5):596–603 [Epub 2006/05/04].CrossRefGoogle Scholar
Arnold, PD, Siegel-Bartelt, J, Cytrynbaum, C, Teshima, I, Schachar, RVelo-cardio-facial syndrome: Implications of microdeletion 22q11 for schizophrenia and mood disorders. Am J Med Genet 2001;105(4):354–362 [Epub 2001/05/30].CrossRefGoogle ScholarPubMed
Baker, KD, Skuse, DHAdolescents and young adults with 22q11 deletion syndrome: psychopathology in an at-risk group. Br J Psychiatry 2005;186:115–120 [Epub 2005/02/03].Google Scholar
Bassett, AS, Chow, EW, AbdelMalik, P, Gheorghiu, M, Husted, J, Weksberg, RThe schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry 2003;160(9):1580–1586 [Epub 2003/08/29].CrossRefGoogle ScholarPubMed
Bassett, AS, Costain, G, Alan Fung, WL, Russell, KJ, Pierce, L, Kapadia, R, et al.Clinically detectable copy number variations in a Canadian catchment population of schizophrenia. J Psychiatr Res 2010;44(15):1005–1009 [Epub 2010/07/21].CrossRefGoogle Scholar
Bassett, AS, McDonald-McGinn, DM, Devriendt, K, Digilio, MC, Goldenberg, P, Habel, A, et al.Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 2011;159(2):e1332–e1339 [Epub 2011/05/17].CrossRefGoogle ScholarPubMed
Bastiaansen, JA, Meffert, H, Hein, S, Huizinga, P, Ketelaars, C, Pijnenborg, M, et al.Diagnosing autism spectrum disorders in adults: the use of Autism Diagnostic Observation Schedule (ADOS) module 4. J Autism Dev Disord 2011;41(9):1256–1266 [Epub 2010/12/15].CrossRefGoogle ScholarPubMed
Botto, LD, May, K, Fernhoff, PM, Correa, A, Coleman, K, Rasmussen, SA, et al.A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. Pediatrics 2003;112(1 Pt 1):101–107 [Epub 2003/07/03].CrossRefGoogle ScholarPubMed
Consortium, ISRare chromosomal deletions and duplications increase risk of schizophrenia Nature 2008;455(7210):237–241 [Epub 2008/08/01].Google Scholar
Fine, SE, Weissman, A, Gerdes, M, Pinto-Martin, J, Zackai, EH, McDonald-McGinn, DM, et al.Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome. J Autism Dev Disord 2005;35(4):461–470 [Epub 2005/09/01].CrossRefGoogle ScholarPubMed
First, MBSR, Gibbon, M, Williams, JBWStructured clinical interview for DSM-IV-TR axis I disorders, research version, patient edition (SCID-I/P). New York: Biometrics Research, New York State Psychiatric Institute; 2002.Google Scholar
Gothelf, D, Frisch, A, Michaelovsky, E, Weizman, A, Shprintzen, RJVelo-cardio-facial syndrome. J Ment Health Res Intellect Disabil 2009;2(2):149–167 [Epub 2010/01/30].CrossRefGoogle ScholarPubMed
Karayiorgou, M, Morris, MA, Morrow, B, Shprintzen, RJ, Goldberg, R, Borrow, J, et al.Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci U S A 1995;92(17):7612–7616 [Epub 1995/08/15].CrossRefGoogle ScholarPubMed
Karayiorgou, M, Simon, TJ, Gogos, JA22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci 2010;11(6):402–416 [Epub 2010/05/21].CrossRefGoogle Scholar
Kates, WR, Antshel, KM, Faraone, SV, Fremont, WP, Higgins, AM, Shprintzen, RJ, et al.Neuroanatomic predictors to prodromal psychosis in velo-cardio-facial syndrome (22q11.2 deletion syndrome): a longitudinal study. Biol Psychiatry 2011;69(10):945–952 [Epub 2011/01/05].CrossRefGoogle ScholarPubMed
King, BH, Lord, CIs schizophrenia on the autism spectrum? Brain Res 2011;1380:34–41 [Epub 2010/11/17].CrossRefGoogle ScholarPubMed
Levinson, DF, Duan, J, Oh, S, Wang, K, Sanders, AR, Shi, J, et al.Copy number variants in schizophrenia: confirmation of five previous findings and new evidence for 3q29 microdeletions and VIPR2 duplications. Am J Psychiatry 2011;168(3):302–316 [Epub 2011/02/03].CrossRefGoogle ScholarPubMed
Levy, D, Ronemus, M, Yamrom, B, Lee, YH, Leotta, A, Kendall, J, et al.Rare de novo and transmitted copy number variation in autistic spectrum disorders. Neuron 2011;70(5):886–897 [Epub 2011/06/11].CrossRefGoogle ScholarPubMed
Lord, C, Risi, S, Lambrecht, L, Cook, E.H. Jr., Leventhal, BL, DiLavore, PC, et al.The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 2000;30(3):205–223.CrossRefGoogle ScholarPubMed
Lord, C, Rutter, M, Le Couteur, AAutism diagnostic interview-revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994;24(5):659–685 [Epub 1994/10/01].CrossRefGoogle ScholarPubMed
McGlashan, TH, Miller, TJ, Woods, SWPre-onset detection and intervention research in schizophrenia psychoses: current estimates of benefit and risk. Schizophr Bull 2001;27(4):563–570 [Epub 2002/02/05].CrossRefGoogle ScholarPubMed
Miller, TJ, McGlashan, TH, Rosen, JL, Cadenhead, K, Ventura, J, McFarlane, W, et al.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.CrossRefGoogle ScholarPubMed
Miller, TJ, McGlashan, TH, Rosen, JL, Somjee, L, Markovich, PJ, Stein, K, et al.Prospective diagnosis of the initial prodrome for schizophrenia based on the structured interview for prodromal syndromes: preliminary evidence of interrater reliability and predictive validity. Am J Psychiatry 2002;159(5):863–865.CrossRefGoogle ScholarPubMed
Moreno-De-Luca, D, Cubells, JFCopy number variants: a new molecular frontier in clinical psychiatry. Curr Psychiatry Rep 2011;13(2):129–137 [Epub 2011/01/22].CrossRefGoogle ScholarPubMed
Niklasson, L, Rasmussen, P, Oskarsdottir, S, Gillberg, CNeuropsychiatric disorders in the 22q11 deletion syndrome. Genet Med 2001;3(1):79–84 [Epub 2001/05/08].CrossRefGoogle ScholarPubMed
Oskarsdottir, S, Vujic, M, Fasth, AIncidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child 2004;89(2):148–151 [Epub 2004/01/23].CrossRefGoogle ScholarPubMed
Ousley, O, Rockers, K, Dell, ML, Coleman, K, Cubells, JFA review of neurocognitive and behavioral profiles associated with 22q11 deletion syndrome: implications for clinical evaluation and treatment. Curr Psychiatry Rep 2007;9(2):148–158 [Epub 2007/03/29].CrossRefGoogle ScholarPubMed
Papolos, DF, Faedda, GL, Veit, S, Goldberg, R, Morrow, B, Kucherlapati, R, et al.Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry 1996;153(12):1541–1547 [Epub 1996/12/01].Google ScholarPubMed
Pulver, AE, Nestadt, G, Goldberg, R, Shprintzen, RJ, Lamacz, M, Wolyniec, PS, et al.Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 1994;182(8):476–478 [Epub 1994/08/01].CrossRefGoogle ScholarPubMed
Rapoport, J, Chavez, A, Greenstein, D, Addington, A, Gogtay, NAutism spectrum disorders and childhood-onset schizophrenia: clinical and biological contributions to a relation revisited. J Am Acad Child Adolesc Psychiatry 2009;48(1):10–18.CrossRefGoogle ScholarPubMed
Rockers, K, Ousley, O, Sutton, T, Schoenberg, E, Coleman, K, Walker, E, et al.Performance on the modified card sorting test and its relation to psychopathology in adolescents and young adults with 22q11.2 deletion syndrome. J Intellect Disabil Res 2009;53(7):665–676 [Epub 2009/05/23].CrossRefGoogle Scholar
Ross, H, Guo, Y, Coleman, K, Ousley, O, Miller, AAssociation of IL-12p70 and IL-6:IL-10 ratio with autism-related behaviors in 22q11.2 deletion syndrome: a preliminary report. Brain Behav Immun 2013 [Epub 2013/01/29].CrossRefGoogle ScholarPubMed
Sanders, SJ, Ercan-Sencicek, AG, Hus, V, Luo, R, Murtha, MT, Moreno-De-Luca, D, et al.Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 2011;70(5):863–885 [Epub 2011/06/11].CrossRefGoogle ScholarPubMed
Shapiro, DI, Cubells, JF, Ousley, OY, Rockers, K, Walker, EFProdromal symptoms in adolescents with 22q11.2 deletion syndrome and schizotypal personality disorder. Schizophr Res 2011;129(1):20–28 [Epub 2011/04/22].CrossRefGoogle ScholarPubMed
Shprintzen, RJ, Goldberg, R, Golding-Kushner, KJ, Marion, RWLate-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet 1992;42(1):141–142 [Epub 1992/01/01].CrossRefGoogle ScholarPubMed
Vorstman, JA, Breetvelt, EJ, Thode, KI, Chow, EW, Bassett, ASExpression of autism spectrum and schizophrenia in patients with a 22q11.2 deletion. Schizophr Res 2013;143(1):55–59 [Epub 2012/11/17].CrossRefGoogle ScholarPubMed
Vorstman, JA, Morcus, ME, Duijff, SN, Klaassen, PW, Heineman-de Boer, JA, Beemer, FA, et al.The 22q11.2 deletion in children: high rate of autistic disorders and early-onset of psychotic symptoms. J Am Acad Child Adolesc Psychiatry 2006;45(9):1104–1113 [Epub 2006/08/24].CrossRefGoogle ScholarPubMed
Young, AS, Shashi, V, Schoch, K, Kwapil, T, Hooper, SRDiscordance in diagnoses and treatment of psychiatric disorders in children and adolescents with 22q11.2 deletion syndrome. Asian J Psychiatry 2011;4(2):119–124 [Epub 2011/07/12].CrossRefGoogle ScholarPubMed
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