Introduction: Advances in research on velo-cardio-facial syndrome/22q11.2 deletion syndrome

2008 ◽  
Vol 14 (1) ◽  
pp. 1-2
Author(s):  
Wendy R. Kates ◽  
Beverly S. Emanuel
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Velo Cardio Facial Syndrome

scholarly journals Cognitive development in children with 22q11.2 deletion syndrome

2012 ◽  
Vol 200 (6) ◽  
pp. 462-468 ◽  
Author(s):  
Sasja N. Duijff ◽  
Petra W. J. Klaassen ◽  
Henriette F. N. Swanenburg de Veye ◽  
Frits A. Beemer ◽  
Gerben Sinnema ◽  
...  
Keyword(s):  
Cognitive Decline ◽  
Cognitive Abilities ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
First Episode ◽  
22Q11.2 Deletion ◽  
Cross Sectional ◽  
Cognitive Faculties ◽  
Relative Decline ◽  
Velo Cardio Facial Syndrome

BackgroundPeople with 22q11.2 deletion syndrome (velo-cardio-facial syndrome) have a 30-fold risk of developing schizophrenia. In the general population the schizophrenia phenotype includes a cognitive deficit and a decline in academic performance preceding the first episode of psychosis in a subgroup of patients. Findings of cross-sectional studies suggest that cognitive abilities may decline over time in some children with 22q11.2 deletion syndrome. If confirmed longitudinally, this could indicate that one or more genes within 22q11.2 are involved in cognitive decline.AimsTo assess longitudinally the change in IQ scores in children with 22q11.2 deletion syndrome.MethodSixty-nine children with the syndrome were cognitively assessed two or three times at set ages 5.5 years, 7.5 years and 9.5 years.ResultsA mean significant decline of 9.7 Full Scale IQ points was found between ages 5.5 years and 9.5 years. In addition to the overall relative decline that occurred when results were scored according to age-specific IQ norms, in 10 out of a group of 29 children an absolute decrease in cognitive raw scores was found between ages 7.5 years and 9.5 years. The decline was not associated with a change in behavioural measures.ConclusionsThe finding of cognitive decline can be only partly explained as the result of ‘growing into deficit’; about a third of 29 children showed an absolute loss of cognitive faculties. The results underline the importance of early psychiatric screening in this population and indicate that further study of the genes at the 22q11.2 locus may be relevant to understanding the genetic basis of early cognitive deterioration.

scholarly journals Atypical response inhibition and error processing in 22q11.2 Deletion Syndrome and Schizophrenia: Towards neuromarkers of disease progression and risk

2020 ◽  
Author(s):  
Ana A. Francisco ◽  
Douwe J. Horsthuis ◽  
Maryann Popiel ◽  
John J. Foxe ◽  
Sophie Molholm
Keyword(s):  
Executive Function ◽  
Response Inhibition ◽  
Neuropsychiatric Symptoms ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Error Related Negativity ◽  
Electrophysiological Recordings ◽  
Velo Cardio Facial Syndrome

ABSTRACT22q11.2 deletion syndrome (also known as DiGeorge syndrome or velo-cardio-facial syndrome) is characterized by increased vulnerability to neuropsychiatric symptoms, with approximately 30% of individuals with the deletion going on to develop schizophrenia. Clinically, deficits in executive function have been noted in this population, but the underlying neural processes are not well understood. Using a Go/No-Go response inhibition task in conjunction with high-density electrophysiological recordings (EEG), we sought to investigate the behavioral and neural dynamics of inhibition of a prepotent response (a critical component of executive function) in individuals with 22q11.2DS with and without psychotic symptoms, when compared to individuals with idiopathic schizophrenia and age-matched neurotypical controls. Twenty-eight participants diagnosed with 22q11.2DS (14-35 years old; 14 with at least one psychotic symptom), 15 individuals diagnosed with schizophrenia (18-63 years old) and two neurotypical control groups (one age-matched to the 22q11.2DS sample, the other age-matched to the schizophrenia sample) participated in this study. Analyses focused on the N2 and P3 no-go responses and error-related negativity (Ne) and positivity (Pe). Atypical inhibitory processing was shown behaviorally and by significantly reduced P3, Ne, and Pe responses in 22q11.2DS and schizophrenia. Interestingly, whereas P3 was only reduced in the presence of psychotic symptoms, Ne and Pe were equally reduced in schizophrenia and 22q11.2DS, regardless of the presence of symptoms. We argue that while P3 may be a marker of disease severity, Ne and Pe might be candidate markers of risk.

Executive Functions and Memory Abilities in Children With 22q11.2 Deletion Syndrome

2010 ◽  
Vol 44 (4) ◽  
pp. 364-371 ◽  
Author(s):  
Linda E. Campbell ◽  
Rayna Azuma ◽  
Fiona Ambery ◽  
Angela Stevens ◽  
Anna Smith ◽  
...  
Keyword(s):  
Executive Function ◽  
Cognitive Deficits ◽  
Visual Memory ◽  
22Q11.2 Deletion Syndrome ◽  
Dopamine Metabolism ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Comt Genotype ◽  
Velo Cardio Facial Syndrome ◽  
The Relationship

Objective: Velo-cardio-facial syndrome or 22q11.2 deletion syndrome (22q11DS) is the most common known microdeletion syndrome. One of the genes in the deleted region is the catechol-O-methyltransferase (COMT) gene, which is thought to have significant effects on cognition through its influence on dopamine metabolism. The aim of the present study was to better characterize the cognitive phenotype in a large cohort children with 22q11DS compared with sibling controls and to investigate if the cognitive deficits in 22q11DS were modulated by COMT expression. Method: The memory, executive function and attentional abilities of children with 22q11DS (n = 50) compared to sibling controls (n = 31), were measured. Also, within children with 22q11DS, a preliminary exploration was carried out of the relationship between cognitive ability and COMT genotype. Results: Overall, the 22q11DS group had significantly reduced scores on tests of memory (especially in visual memory) and executive function (particularly in planning, working memory, and motor organization) compared with sibling controls. No association, however, was identified between COMT genotype and cognitive function. Conclusions: Although 22q11DS children have specific cognitive deficits, differences in COMT do not account for these findings.

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