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

Published online by Cambridge University Press:  09 September 2013

S. X. Tang ,
J. J. Yi ,
M. E. Calkins ,
D. A. Whinna ,
C. G. Kohler ,
M. C. Souders ,
D. M. McDonald-McGinn ,
E. H. Zackai ,
B. S. Emanuel  and
R. C. Gur
...Show all authors
S. X. Tang
Affiliation:
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
J. J. Yi
Affiliation:
Department of Child and Adolescent Psychiatry, Children's Hospital of Philadelphia, Philadelphia, PA, USA
M. E. Calkins
Affiliation:
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
D. A. Whinna
Affiliation:
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
C. G. Kohler
Affiliation:
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
M. C. Souders
Affiliation:
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA
D. M. McDonald-McGinn
Affiliation:
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA
E. H. Zackai
Affiliation:
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
B. S. Emanuel
Affiliation:
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
R. C. Gur
Affiliation:
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
R. E. Gur*
Affiliation:
Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA
*
* 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)
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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.

Keywords

22q11.2 deletion syndromepsychopathologypsychosistreatment
Type
Original Articles
Information
Psychological Medicine , Volume 44 , Issue 6 , April 2014 , pp. 1267 - 1277
Copyright
Copyright © Cambridge University Press 2013 

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