Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review

  • Mariela MoshevaEmail author
  • Liran Korotkin
  • Raquel E. Gur
  • Abraham Weizman
  • Doron Gothelf


22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion in humans and is associated with high rates of attention deficit/hyperactivity disorder (ADHD), psychotic spectrum disorders and mood and anxiety disorders. The objective of the study was to systematically review studies regarding pharmacological treatments for psychiatric disorders in individuals with 22q11.2DS and to provide practical guidelines for the psychiatric management and side effect monitoring in 22q11.2DS. A literature search was conducted using the databases PubMed, PsycINFO and Embase. Information regarding study population, drug treatment, side effect profile and efficacy for each trial was extracted. Data collection was completed on May 2018. The search identified 705 studies. A total of seven studies, describing 182 individuals, were included. Pharmacological interventions included three studies for antipsychotic treatment, two studies for stimulants, one study for selective serotonin reuptake inhibitors (SSRIs), one study for S-adenosyl-l-methionine (SAMe), and one case series for metyrosine. The presented data support the clinical impression that individuals with 22q11.2DS and comorbid psychiatric disorders are treated in a manner comparable to non-22q11.2DS individuals. However, distinct medical comorbidities common in individuals with 22q11.2DS may complicate the administration of pharmacotherapy. Further trials with RCT design, larger sample sizes and more syndrome-specific pharmacological agents are needed to improve evidence-based psychiatric care of 22q11.2DS individuals with comorbid mental disorders.


Velocardiofacial syndrome Schizophrenia Psychosis Mood and anxiety disorders ADHD 



We would like to thank Alina Markinszon, librarian from Sheba Medical Center, Tel Hashomer, Israel for her assistance in conducting the systematic search for this article.


This study was funded by the Binational Science Foundation, grant 2017369; The National Institute of Mental Health of the National Institutes of Health grants U01MH101722 and U01MH101719.

Compliance with ethical standards

Conflict of interest

None declared.

Supplementary material

787_2019_1326_MOESM1_ESM.docx (14 kb)
Supplementary material 1 (DOCX 13 kb)


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.The Child Psychiatry DivisionEdmond and Lily Safra Children’s Hospital, Sheba Medical CenterTel HashomerIsrael
  2. 2.Sackler Faculty of MedicineTel Aviv UniversityTel AvivIsrael
  3. 3.Department of Psychiatry, Neuropsychiatry Section, Perelman School of MedicineUniversity of Philadelphia PennsylvaniaPhiladelphiaUSA
  4. 4.Department of Child and Adolescent PsychiatryChildren’s Hospital of PhiladelphiaPhiladelphiaUSA
  5. 5.Geha Mental Health Center and Felsenstein Medical Research CenterPetah TikvaIsrael
  6. 6.The Sagol School of NeuroscienceTel Aviv UniversityTel AvivIsrael

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