Top

Published in:

01-08-2020 | Schizophrenia | Review

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

Authors: Mariela Mosheva, Liran Korotkin, Raquel E. Gur, Abraham Weizman, Doron Gothelf

Published in: European Child & Adolescent Psychiatry | Issue 8/2020

Abstract

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.

Available only for authorised users

Grati FR, Molina Gomes D, Ferreira JCPB et al (2015) Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn 35:801–809. https://doi.org/10.1002/pd.4613 CrossRefPubMed

Shprintzen RJ (2008) Velo-cardio-facial syndrome: 30 years of study. Dev Disabil Res Rev 14:3–10. https://doi.org/10.1002/ddrr.2 CrossRefPubMedPubMedCentral

McDonald-McGinn DM, Sullivan KE, Marino B et al (2015) 22Q11.2 deletion syndrome. Nat Rev Dis Prim. https://doi.org/10.1038/nrdp.2015.71 CrossRefPubMed

Chow EWC, Watson M, Young DA, Bassett AS (2006) Neurocognitive profile in 22q11 deletion syndrome and schizophrenia. Schizophr Res 87:270–278. https://doi.org/10.1016/j.schres.2006.04.007 CrossRefPubMedPubMedCentral

Schneider M, Debbané M, Bassett AS et al (2014) 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. Am J Psychiatry 171:627–639. https://doi.org/10.1176/appi.ajp.2013.13070864 CrossRefPubMedPubMedCentral

Tang SX, Yi JJ, Calkins ME et al (2014) Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreated. Psychol Med 44:1267–1277. https://doi.org/10.1017/S0033291713001669 CrossRefPubMed

Green T, Gothelf D, Glaser B et al (2009) Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome. J Am Acad Child Adolesc Psychiatry 48:1060–1068. https://doi.org/10.1097/CHI.0b013e3181b76683 CrossRefPubMed

Fung WLA, Butcher NJ, Costain G et al (2015) Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med 17:599–609. https://doi.org/10.1038/gim.2014.175 CrossRefPubMedPubMedCentral

Vogels A, Schevenels S, Cayenberghs R et al (2014) Presenting symptoms in adults with the 22q11 deletion syndrome. Eur J Med Genet 57:157–162. https://doi.org/10.1016/j.ejmg.2014.02.008 CrossRefPubMed

10.

Bassett AS, McDonald-McGinn DM, Devriendt K et al (2011) Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr 159:332–339. https://doi.org/10.1016/j.jpeds.2011.02.039 CrossRefPubMedPubMedCentral

11.

Moher D, Liberati A, Tetzlaff J et al (2009) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. PLoS Med 6:e1000097. https://doi.org/10.1371/journal.pmed.1000097 CrossRefPubMedPubMedCentral

12.

Dori N, Green T, Weizman A, Gothelf D (2017) The effectiveness and safety of antipsychotic and antidepressant medications in individuals with 22q11.2 deletion syndrome. J Child Adolesc Psychopharmacol 27:83–90. https://doi.org/10.1089/cap.2014.0075 CrossRefPubMed

13.

Verhoeven WMA, Egger JIM (2015) Atypical antipsychotics and relapsing psychoses in 22q11.2 deletion syndrome: a long-term evaluation of 28 patients. Pharmacopsychiatry 48:104–110. https://doi.org/10.1055/s-0034-1398612 CrossRefPubMed

14.

Butcher NJ, Fung WLA, Fitzpatrick L et al (2015) Response to clozapine in a clinically identifiable subtype of schizophrenia. Br J Psychiatry 206:484–491. https://doi.org/10.1192/bjp.bp.114.151837 CrossRefPubMedPubMedCentral

15.

Graf WD, Unis AS, Yates CM et al (2001) Catecholamines in patients with 22q11.2 deletion syndrome and the low-activity COMT polymorphism. Neurology 57:410–416. https://doi.org/10.1212/WNL.57.3.410 CrossRefPubMed

16.

Gothelf D, Gruber R, Presburger G et al (2003) Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open label study. J Clin Psychiatry 64:1163–1169CrossRef

17.

Green T, Weinberger R, Diamond A et al (2011) The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome. J Child Adolesc Psychopharmacol 21:589–595. https://doi.org/10.1089/cap.2011.0042 CrossRefPubMed

18.

Gothelf D, Eliez S, Thompson T et al (2005) COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome. Nat Neurosci 8:1500–1502. https://doi.org/10.1038/nn1572 CrossRefPubMed

19.

Green T, Steingart L, Frisch A et al (2012) The feasibility and safety of S-adenosyl-l-methionine (SAMe) for the treatment of neuropsychiatric symptoms in 22q11.2 deletion syndrome: a double-blind placebo-controlled trial. J Neural Transm 119:1417–1423. https://doi.org/10.1007/s00702-012-0831-x CrossRefPubMed

20.

Gothelf D, Frisch A, Munitz H et al (1999) Clinical characteristics of schizophrenia associated with velo-cardio-facial syndrome. Schizophr Res 35:105–112. https://doi.org/10.1016/S0920-9964(98)00114-5 CrossRefPubMed

21.

Jensen KG, Juul K, Fink-Jensen A et al (2015) Corrected QT changes during antipsychotic treatment of children and adolescents: a systematic review and meta-analysis of clinical trials. J Am Acad Child Adolesc Psychiatry 54:25–36. https://doi.org/10.1016/j.jaac.2014.10.002 CrossRefPubMed

22.

Bassett AS, Chow EWC, Husted J et al (2009) Premature death in adults with 22q11.2 deletion syndrome. J Med Genet 46:324–330. https://doi.org/10.1136/jmg.2008.063800 CrossRefPubMedPubMedCentral

23.

Varma S, Bishara D, Besag FMC, Taylor D (2011) Clozapine-related EEG changes and seizures: dose and plasma-level relationships. Ther Adv Psychopharmacol 1:47–66. https://doi.org/10.1177/2045125311405566 CrossRefPubMedPubMedCentral

24.

Gladston SCD (2005) Clozapine treatment of psychosis associated with velo-cardio-facial syndrome: benefits and risks. J Intellect Disabil Res 49:567–570. https://doi.org/10.1111/j.1365-2788.2005.00708.x CrossRefPubMed

25.

Lee KC, Finley PR, Alldredge BK (2003) Risk of seizures associated with psychotropic medications: emphasis on new drugs and new findings. Expert Opin Drug Saf 2:233–247. https://doi.org/10.1517/eods.2.3.233.21376 CrossRefPubMed

26.

Boot E, Butcher NJ, van Amelsvoort TAMJ et al (2015) Movement disorders and other motor abnormalities in adults with 22q11.2 deletion syndrome. Am J Med Genet Part A 167:639–645. https://doi.org/10.1002/ajmg.a.36928 CrossRef

27.

Mosholder AD, Gelperin K, Hammad TA et al (2009) Hallucinations and other psychotic symptoms associated with the use of attention-deficit/hyperactivity disorder drugs in children. Pediatrics 123:611–616. https://doi.org/10.1542/peds.2008-0185 CrossRefPubMed

28.

Shyu Y-C, Yuan S-S, Lee S-Y et al (2015) Attention-deficit/hyperactivity disorder, methylphenidate use and the risk of developing schizophrenia spectrum disorders: a nationwide population-based study in Taiwan. Schizophr Res 168:161–167. https://doi.org/10.1016/j.schres.2015.08.033 CrossRefPubMed

29.

Niarchou M, Calkins ME, Moore TM et al (2017) Attention deficit hyperactivity disorder symptoms and psychosis in 22q11.2 deletion syndrome. Schizophr Bull 44:1–10. https://doi.org/10.1093/schbul/sbx113 CrossRef

30.

Jolin EM, Weller RA, Jessani NR et al (2009) Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 deletion syndrome. J Affect Disord 119:177–180. https://doi.org/10.1016/j.jad.2009.02.016 CrossRefPubMed

31.

Shashi V, Keshavan MS, Howard TD et al (2006) Cognitive correlates of a functional COMT polymorphism in children with 22q11.2 deletion syndrome. Clin Genet 69:234–238. https://doi.org/10.1111/j.1399-0004.2006.00569.x CrossRefPubMed

32.

Jureidini JN, Doecke CJ, Mansfield PR et al (2004) Efficacy and safety of antidepressants for children and adolescents. BMJ 328:879–883. https://doi.org/10.1136/bmj.328.7444.879 CrossRefPubMedPubMedCentral

33.

Gibbons RD, Brown CH, Hur K et al (2012) Suicidal thoughts and behavior with antidepressant treatment: reanalysis of the randomized placebo-controlled studies of fluoxetine and venlafaxine. Arch Gen Psychiatry 69:580–587. https://doi.org/10.1001/archgenpsychiatry.2011.2048 CrossRefPubMedPubMedCentral

34.

Weisman O, Guri Y, Gur RE et al (2017) Subthreshold psychosis in 22q11.2 deletion syndrome: multisite naturalistic study. Schizophr Bull 43:1079–1089. https://doi.org/10.1093/schbul/sbx005 CrossRefPubMedPubMedCentral

35.

Stachon AC, De Souza C (2011) Anxiety disorders and perceptual disturbances in adolescents with 22q11.2 deletion syndrome treated with SSRI: a case series. J Can Acad Child Adolesc Psychiatry. 20(4):305–310PubMedPubMedCentral

Title: Effectiveness and side effects of psychopharmacotherapy in individuals with 22q11.2 deletion syndrome with comorbid psychiatric disorders: a systematic review
Authors: Mariela Mosheva
Liran Korotkin
Raquel E. Gur
Abraham Weizman
Doron Gothelf
Publication date: 01-08-2020
Publisher: Springer Berlin Heidelberg
Keywords: Schizophrenia
Anxiety or Fear-Related Disorders
Antipsychotics
Antipsychotics
Clozapine
Quetiapine
Published in: European Child & Adolescent Psychiatry / Issue 8/2020
Print ISSN: 1018-8827
Electronic ISSN: 1435-165X
DOI: https://doi.org/10.1007/s00787-019-01326-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 8/2020

ADHD symptoms across adolescence: the role of the family and school climate and the DRD4 and 5-HTTLPR genotype

Association between prenatal exposure to a 1-month period of repeated rocket attacks and neuropsychiatric outcomes up through age 9: a retrospective cohort study

Correction to: Long-term mental health in unaccompanied refugee minors: pre- and post-flight predictors

Sex-linked neurofunctional basis of psychological resilience in late adolescence: a resting-state functional magnetic resonance imaging study

The Child Outcome Rating Scale: validating a four-item measure of psychosocial functioning in community and clinic samples of children aged 10–15

Asylum-seeking children with resignation syndrome: catatonia or traumatic withdrawal syndrome?