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Implications of COMT and Subclinical Psychiatric Symptoms on the Phenotypic Variability of 22q11.2 Deletion Syndrome: A Transversal and Longitudinal Approach

Published online by Cambridge University Press:  23 March 2020

S. Guerrera ,
M. Armando ,
M. Pontillo ,
F. Papaleo  and
S. Vicari
S. Guerrera
Affiliation:
Child Psychiatry Unit- Bambino Gesù Children's Hospital- IRCCS, Department of Neuroscience, Roma, Italy
M. Armando
Affiliation:
Child Psychiatry Unit- Bambino Gesù Children's Hospital- IRCCS, Department of Neuroscience, Roma, Italy
M. Pontillo
Affiliation:
Child Psychiatry Unit- Bambino Gesù Children's Hospital- IRCCS, Department of Neuroscience, Roma, Italy
F. Papaleo
Affiliation:
Istituto Italiano di Tecnologia, Department of Neuroscience and Brain Technologies, Genova, Italy
S. Vicari
Affiliation:
Child Psychiatry Unit- Bambino Gesù Children's Hospital- IRCCS, Department of Neuroscience, Roma, Italy

Abstract

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Introduction

22q11.2 deletion syndrome (22q11.2DS) results from a hemizygous microdeletion on chromosome 22 and is characterized by phenotypic variability. Several studies have been conducted on the impact of COMT functional polymorphism in 22q11DS, suggesting that attenuated psychotic manifestations are frequent in children and adolescents and represent one of the strongest predictors for the onset of psychotic disorder.

Objectives

We explored possible interaction between COMT polymorphism and subclinical psychiatric symptoms in a 22q11.2DS cohort of 42 participants aged 6 to 26 years: 17 hemizygosity for COMT-Met and 25 hemizygosity for COMT-Val.

Aims

To analyse impact of COMT gene in 22q11DS and its related psychiatric correlates.

Method

Each participant, genotyped for the catechol O-methyltransferase (COMT) Met/Val polymorphism, underwent structured psychiatric and cognitive assessment. Analysis of positive and negative symptoms was performed by the structured interview for prodromal syndromes (SIPS). Finally, longitudinal data available in a subsample of 24 individuals were used to explore the developmental trajectories of psychotic symptoms one year later.

Results

There was a significant positive correlation between COMT Val polymorphism and positive symptoms; at follow-up, no significant correlation were found between COMT polymorphism and psychiatric symptoms. No other significant differences were found between groups (Comt/Met-Comt/Val) on any other CBCL or QI score.

Conclusions

COMT and additional genes microdeleted might interact in the susceptibility to schizophrenia in 22q11.2DS: psychotic symptoms might result from an epistatic interaction with other genes. Moreover, gene-environment, in presence of genetic vulnerability could increase the risk of schizophrenia in 22q11DS.

Disclosure of interest

The authors have not supplied their declaration of competing interest.

Type
Oral communications: Classification of mental disorders; comorbidity/dual pathologies; psychopathology; psychopharmacology and pharmacoeconomics and sleep disorders & stress
Information
European Psychiatry , Volume 41 , Issue S1: Abstract of the 25th European Congress of Psychiatry , April 2017 , pp. S82 - S83
Copyright
Copyright © European Psychiatric Association 2017
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