Adults with 22q11.2 Deletion syndrome (22q11DS) have increased prevalence of schizophrenia features. Our goal is to compare the neurocognitive profile in 22q11DS, schizophrenia and individuals at risk for schizophrenia. Twenty-one 22q11DS patients (8-32 years, mean 14.9 years, 15M, 6F) were matched to four comparison groups on age: low risk (n = 21), first-degree family members of schizophrenia patients (genetic risk, n = 20), individuals exhibiting putatively prodromal symptoms (clinical risk, n = 19), and patients with schizophrenia (n = 21). All participants received semi-structured interviews [Diagnostic Interview for Genetic Studies (DIGS) and the Structured Interview for Prodromal Syndromes (SIPS)], and a computerized neurocognitive battery (CNB) measuring the following domains: Abstraction and Mental Flexibility, Attention, Working Memory, Verbal Memory, Face Memory, Spatial Memory, Language, Spatial Processing, Sensorimotor Dexterity, and Emotion Processing. Sixty percent of 22q11DS participants met SIPS criteria for prodromal symptoms and one participant met criteria for paranoid schizophrenia. Thirty-eight percent met criteria for Depressive Disorders. All 22q11DS participants successfully completed the CNB. 22q11DS participants were significantly less accurate in nearly all domains, but had similar speed of response compared to the other groups. Their profile resembled that of the psychosis groups in accuracy and speed, except for more pronounced deficits in accuracy for face memory and emotion processing. Subthreshold psychotic symptoms are present in a high proportion of 22q11DS participants. Deficits shown in the CNB are more pronounced for accuracy than speed relative to the psychosis groups with similar profiles. Similar deficits have been described in the 22q11DS population using non-computerized measures, which require increased testing time.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272485PMC
http://dx.doi.org/10.1002/ajmg.b.32005DOI Listing

Publication Analysis

Top Keywords

22q11ds participants
16
computerized neurocognitive
8
neurocognitive profile
8
22q112 deletion
8
deletion syndrome
8
22q11ds
8
prodromal symptoms
8
face memory
8
emotion processing
8
met criteria
8

Similar Publications

Background: The 22q11.2 deletion syndrome (22q11DS) is associated with a variety of neuropsychiatric outcomes that vary across deletion carriers. We adopted a dimensional approach to provide a comprehensive overview of neuropsychiatric symptom expression in adolescents with 22q11DS and further our understanding of the observed phenotypical heterogeneity.

View Article and Find Full Text PDF

Reduced amplitude and slowed latency of the acoustic startle response in adolescents and adults with 22q11.2 deletion syndrome.

Schizophr Res

July 2024

Atlanta Veterans Administration Health Care System and Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, United States of America.

Background: 22q11.2 deletion syndrome (22q11DS) is one of the most robust genetic predictors of psychosis and other psychiatric illnesses. In this study, we examined 22q11DS subjects' acoustic startle responses (ASRs), which putatively index psychosis risk.

View Article and Find Full Text PDF

Social skills in neurodevelopmental disorders: a study using role-plays to assess adolescents and young adults with 22q11.2 deletion syndrome and autism spectrum disorders.

J Neurodev Disord

March 2024

Department of Psychology and Educational Sciences, Clinical Psychology Unit for Intellectual and Developmental Disabilities, Faculty of Psychology and Educational Sciences, University of Geneva, 40, Boulevard du Pont-d'Arve, 1205, Geneva, Switzerland.

Backgrounds: Social skills are frequently impaired in neurodevelopmental disorders and genetic conditions, including 22q11.2 deletion syndrome (22q11DS) and autism spectrum disorders (ASD). Although often assessed with questionnaires, direct assessment provides a more valid estimate of the constructs.

View Article and Find Full Text PDF

Source-based morphometry reveals structural brain pattern abnormalities in 22q11.2 deletion syndrome.

Hum Brain Mapp

January 2024

Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.

Article Synopsis
  • 22q11.2 deletion syndrome (22q11DS) is the most common microdeletion in humans, linked to reduced gray matter volume and neuropsychiatric issues like cognitive impairment and psychosis.
  • A study involving 783 participants (470 with 22q11DS and 313 controls) used advanced brain imaging techniques to identify specific patterns of gray matter volume covariance associated with this syndrome.
  • Results indicated that individuals with 22q11DS show unique structural brain abnormalities, particularly in the cerebellum, and these alterations follow distinct patterns rather than a widespread decline.
View Article and Find Full Text PDF

Parents of children with 22q11.2 deletion syndrome (22q11DS) report concern about the psychiatric manifestations of the condition, but typically receive little information about this in clinical encounters and instead find information about it elsewhere. We developed an educational booklet about the psychiatric manifestations of 22q11DS and assessed its utility among parents of children with the condition.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!