Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: Results from the international consortium on brain and behavior in 22q11.2 deletion syndrome

Maude Schneider, Martin Debbané, Anne S. Bassett, Eva W.C. Chow, Wai Lun Alan Fung, Marianne B.M. Van Den Bree, Michael Owen, Kieran C. Murphy, Maria Niarchou, Wendy R. Kates, Kevin M. Antshel, Wanda Fremont, Donna M. McDonald-McGinn, Raquel E. Gur, Elaine H. Zackai, Jacob Vorstman, Sasja N. Duijff, Petra W.J. Klaassen, Ann Swillen, Doron GothelfTamar Green, Abraham Weizman, Therese Van Amelsvoort, Laurens Evers, Erik Boot, Vandana Shashi, Stephen R. Hooper, Carrie E. Bearden, Maria Jalbrzikowski, Marco Armando, Stefano Vicari, Declan G. Murphy, Opal Ousley, Linda E. Campbell, Tony J. Simon, Stephan Eliez

Research output: Contribution to journalReview articlepeer-review

582 Scopus citations


Objective: Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. The associations among psychopathology, intellect, and functioning were examined in a subgroup of participants. Method: The 1,402 participants with 22q11.2 deletion syndrome, ages 6-68 years, were assessed for psychiatric disorders with validated diagnostic instruments. Data on intelligence and adaptive functioning were available for 183 participants ages 6 to 24 years. Results: Attention deficit hyperactivity disorder (ADHD) was the most frequent disorder in children (37.10%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents. Anxiety and unipolar mood disorders were over-represented in females. Psychotic disorders were present in 41% of adults over age 25. Males did not predominate in psychotic or autism spectrum disorders. Hierarchical regressions in the subgroup revealed that daily living skills were predicted by the presence of anxiety disorders. Psychopathology was not associated with communication or socialization skills. Conclusions: To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.

Original languageEnglish (US)
Pages (from-to)627-639
Number of pages13
JournalAmerican Journal of Psychiatry
Issue number6
StatePublished - Jun 1 2014
Externally publishedYes

ASJC Scopus subject areas

  • Psychiatry and Mental health


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