Occurrence of affective disorders compared to other psychiatric disorders in children and adolescents with 22q11.2 deletion syndrome
ABSTRACT 22q11.2 deletion syndrome (22qDS) is a common genetic disorder with highly variable clinical manifestations that may include depression, bipolar disorder and schizophrenia. Studies of psychiatric disorders in youth with 22qDS often had methodological limitations. This study reviewed clinical studies with the currently best available methodology to determine the occurrence of affective disorders compared to other psychiatric disorders in youth with 22qDS.
A PubMed search was performed to identify psychiatric studies published from 2000 through 2009 of children and adolescents with genetically confirmed 22qDS who underwent systematic psychiatric assessments. Studies that met defined inclusion/exclusion criteria were selected for further analysis.
Seven studies with a total of 323 children and adolescents with 22qDS (mean age=10.8 years) met the defined inclusion/exclusion criteria. Depressive disorders, but not bipolar spectrum disorders, were increased compared to community-based rates in youth without 22qDS. Anxiety disorders and attention-deficit/hyperactivity disorder were the most frequent disorders. Although psychotic-like phenomena and schizotypical traits were reported, only two adolescents (<1%) had a psychotic disorder.
Unknown selection and assessment factors may have impacted on occurrence rates.
The elevated occurrence of depressive, anxiety, and attention disorders in children with 22qDS, compared to community-based rates in children without 22qDS, suggest that psychiatric screening is needed. Longitudinal study is needed to determine if these childhood psychiatric disorders will resolve, continue into adulthood, or develop into more serious psychopathology.
- SourceAvailable from: Stefano Vicari[Show abstract] [Hide abstract]
ABSTRACT: Objective: 22q11.2 deletion syndrome (22q11DS) is a genetic syndrome associated with a microdeletion of the chromosome 22 band q11 with an estimated prevalence of between 1:2,500 and 1:4,000 live births. Studies of school-age children have shown that individuals with 22q11DS have very high rates of psychiatric morbidity and abnormal behaviors. By late adolescence and early adulthood, up to one-third of patients with 22q11DS develop psychotic disorders resembling above all schizophrenia and schizoaffective disorder. Therefore, 22q11DS is of considerable interest to research concerned with the genetic and epigenetic mechanisms involved in the development of schizophrenic disorder. Method: A comprehensive literature review based on PubMed/MEDLINE, Cochrane Library, Cinhal and PsycInfo was undertaken. Results: Schizophrenic disorder associated with 22q11DS largely resembles that found in the general population as regards the core signs and symptoms, treatment response, neurocognitive profile and MRI brain anomalies. Conclusions: Individuals with 22q11DS are an easy identifiable high-risk group for schizophrenia whose transition rate in early adulthood may be as high as 30%, regardless of environmental factors. This syndrome is thus of considerable interest to researchers and clinicians involved in the early intervention/prevention of schizophrenia. Declaration of interest: none Marco Armando(a, b, c); Maria Pontillo (a); Franco De Crescenzo (a); Cinzia Correale (a); Enrica De Simoni (d); Francesco Papaleo (e, f); Riccardo Saba (b); Stefano Vicari (a).
- [Show abstract] [Hide abstract]
ABSTRACT: The adenosine A(2A) receptor is linked to the dopamine neurotransmitter system and is also implicated in the regulation of alertness, suggesting a potential association with ADHD traits. Furthermore, animal studies suggest that the adenosine A(2A) receptor may influence ADHD-like behavior. For that reason, the adenosine A(2A) receptor gene (ADORA2A) emerges as a promising candidate for studying the etiology of ADHD traits. The aim of the present study was to examine the relationship between adenosine A(2A) receptor gene polymorphisms and ADHD traits in a large population-based sample. The present study was based on the Child and Adolescent Twin Study in Sweden (CATSS), and included 1747 twins. ADHD traits were assessed through parental reports, and samples of DNA were collected. Associations between six SNPs and ADHD traits were examined, and results suggested a nominal association between ADHD traits and three of these SNPs; rs3761422, rs5751876, and rs35320474. For one of the SNPs, rs35320474, results remained significant after correction for multiple comparisons. These results indicate the possibility that the adenosine A(2A) receptor gene may be involved in ADHD traits. However, more studies replicating the present results are warranted before this association can be confirmed.Genes Brain and Behavior 01/2013; 12(3). DOI:10.1111/gbb.12015 · 3.51 Impact Factor
- Journal of psychiatry & neuroscience: JPN 05/2011; 36(3):147-9. DOI:10.1503/jpn.110026 · 7.49 Impact Factor