Psychiatric manifestations of 22q11.2 deletion syndrome: a literature review.

Abstract Introduction The 22q11.2 deletion syndrome is a genetic disorder with variable clinical manifestations. It affects one out of 5950 neonates and has an autosomal dominant inheritance pattern. The aim of this article is to review its psychiatric manifestations and any underlying genetic alterations. Methods We reviewed the scientific literature available as of October 2014 in the LILACS and Medline databases. Results Sixty per cent of these patients fulfilled diagnostic criteria for a mental disorder at some point in their lives, referring to psychotic disorders, attention deficit hyperactivity disorder, mood disorders, anxiety disorders, and autism spectrum disorders. Specific genes, such as COMT and PRODH, have been linked to these psychiatric manifestations. Conclusions It is necessary to raise awareness among all health care professionals so that they understand the relevance of these manifestations, are able to anticipate them, and can provide appropriate information to patients and family members.

• Publication year

  2018

• Venue

  Neurologia

• Publication date

  2018-03-01

• Fields of study

  Medicine, Psychology

• Identifiers
  DOI 10.1016/j.nrleng.2015.07.014
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar

• No claims are published for this paper.

• No concepts are published for this paper.

• The 22q11.2 deletion syndrome as a window into complex neuropsychiatric disorders over the lifespan.

  2014influential reference
• 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.

  2014influential reference
• Evidence that duplications of 22q11.2 protect against schizophrenia

  2013cited by this paper
• The internet is parents' main source of information about psychiatric manifestations of 22q11.2 deletion syndrome (22q11.2DS)☆

  2013cited by this paper
• Discussing the psychiatric manifestations of 22q11.2 deletion syndrome: an exploration of clinical practice among medical geneticists

  2013cited by this paper
• The longitudinal course of attention deficit/hyperactivity disorder in velo-cardio-facial syndrome.

  2013cited by this paper
• 22q11 deletion syndrome: a review of the neuropsychiatric features and their neurobiological basis

  2013influential reference
• Risk factors and the evolution of psychosis in 22q11.2 deletion syndrome: a longitudinal 2-site study.

  2013cited by this paper
• Depression and anxiety disorders in children and adolescents with velo-cardio-facial syndrome (VCFS)

  2012cited by this paper
• Occurrence of affective disorders compared to other psychiatric disorders in children and adolescents with 22q11.2 deletion syndrome.

  2012influential reference
• Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome.

  2009influential reference
• Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome.

  2009cited by this paper
• Velocardiofacial Syndrome

  2009cited by this paper
• Living with a child at risk for psychotic illness: The experience of parents coping with 22q11 deletion syndrome: An exploratory study

  2008cited by this paper
• Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.

  2008cited by this paper
• Autistic Spectrum Disorders in Velo-cardio Facial Syndrome (22q11.2 Deletion)

  2007influential reference
• Comparing ADHD in Velocardiofacial Syndrome to Idiopathic ADHD

  2007influential reference
• Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.

  2007cited by this paper
• Prevalence of ADHD in children with velocardiofacial syndrome: A preliminary report

  2006influential reference
• A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.

  2003cited by this paper
• High rates of schizophrenia in adults with velo-cardio-facial syndrome.

  1999influential reference
• Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder?

  1996influential reference
• Late-onset psychosis in the velo-cardio-facial syndrome.

  1992influential reference

• Biogenic Amine Metabolism and Its Genetic Variations in Autism Spectrum Disorder: A Comprehensive Overview

  2025cites this paper
• Investigation of 22q11.2 Deletion Syndrome in the first Moroccan Pediatric Patients series

  2025cites this paper
• Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders

  2024cites this paper
• Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions

  2023cites this paper
• Prevalence and incidence of psychotic disorders in 22q11.2 deletion syndrome: a meta-analysis

  2022cites this paper
• Prevalence of anxiety symptomatology and diagnosis in syndromic intellectual disability: a systematic review and meta-analysis.

  2022cites this paper
• 22q11.2 deletion syndrome: an anaesthetic perspective

  2021cites this paper
• Psychiatric and Nonpsychiatric Comorbidities Among Children With ADHD: An Exploratory Analysis of Nationwide Claims Data in Germany

  2021cites this paper
• Schizo-obsessive presentation in a young girl with DiGeorge syndrome

  2020cites this paper
• Renin-angiotensin system and Alzheimer's disease pathophysiology: From the potential interactions to therapeutic perspectives.

  2019cites this paper
• Psychosis and ASD

  2019cites this paper
• De los síntomas psicóticos al síndrome de DiGeorge

  2018cites this paper
• An update on the comorbidity of ADHD and ASD: a focus on clinical management

  2016cites this paper