scholarly journals Early visual processing as a marker of disease, not vulnerability: Event-related potential (ERP) evidence from 22q11.2 deletion syndrome, a population at high risk for schizophrenia

2021 ◽  
Author(s):  
Ana A. Francisco ◽  
John J. Foxe ◽  
Douwe J. Horsthuis ◽  
Sophie Molholm
Keyword(s):  
Visual Processing ◽  
Time Window ◽  
22Q11.2 Deletion Syndrome ◽  
Event Related Potential ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Increased Risk ◽  
Processing Differences ◽  
Adaptation Task

AbstractWe investigated visual processing in 22q11.2 deletion syndrome (22q11.2DS), a condition characterized by an increased risk for schizophrenia. Visual processing differences have been described in schizophrenia but remain understudied early in the disease course. Electrophysiology was recorded during a visual adaptation task with different interstimulus intervals to investigate visual processing and adaptation in 22q11.2DS (with (22q+) and without (22q-) psychotic symptoms), compared to control and idiopathic schizophrenia groups. Analyses focused on early windows of visual processing. While increased amplitudes were observed in 22q11.2DS in an earlier time window (90-140 ms), decreased responses were seen later (165-205 ms) in schizophrenia and 22q+. 22q11.2DS, and particularly 22q-, presented increased adaptation effects. We argue that while amplitude and adaptation in the earlier time window may reflect specific neurogenetic aspects associated with a deletion in chromosome 22, amplitude in the later window may be a marker of the presence of psychosis and/or of its chronicity/severity.

Implication of reward alterations in the expression of negative symptoms in 22q11.2 deletion syndrome: a behavioural and DTI study

2017 ◽  
Vol 47 (8) ◽  
pp. 1442-1453 ◽  
Author(s):  
L. Dubourg ◽  
M. Schneider ◽  
M. C. Padula ◽  
L. Chambaz ◽  
M. Schaer ◽  
...  
Keyword(s):  
Negative Symptoms ◽  
Diffusion Tensor ◽  
Structural Connectivity ◽  
22Q11.2 Deletion Syndrome ◽  
Reward System ◽  
Positive Symptom ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Increased Risk

BackgroundAlterations of the reward system have been proposed as one of the core mechanisms underlying the expression of negative symptoms in schizophrenia. Specifically, deficits in specific reward components and white matter (WM) integrity of the reward system have been highlighted. The putative link between negative symptoms and the hedonic experience, or structural connectivity of the reward system has never been examined in the 22q11.2 deletion syndrome (22q11DS), a condition with increased risk for psychosis.MethodAnticipatory and consummatory dimensions of pleasure were assessed in participants with 22q11DS (N = 54) and healthy controls (N = 55). In patients with 22q11DS, the association between pleasure scores and positive or negative symptoms was investigated. Furthermore, WM integrity of the accumbofrontal tract was quantified using diffusion tensor imaging (DTI). Associations between DTI measures, pleasure dimensions and negative symptoms were examined.ResultsPatients with 22q11DS showed reduced anticipatory and consummatory pleasure compared to controls. Furthermore, anticipatory pleasure scores were negatively correlated to negative and positive symptoms in 22q11DS. WM microstructural changes of the accumbofrontal tract in terms of increased fractional anisotropy and reduced radial anisotropy were also identified in patients. However, no significant correlation between the DTI measures and pleasure dimensions or psychotic symptoms was observed.ConclusionsThis study revealed that participants with 22q11DS differed in their experience of pleasure compared to controls. The anticipatory pleasure component appears to be related to negative and positive symptom severity in patients. Alterations of WM integrity of the accumbofrontal tract seem to be related to myelination abnormalities in 22q11DS patients.

Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications

2006 ◽  
Vol 84 (2-3) ◽  
pp. 187-193 ◽  
Author(s):  
Martin Debbané ◽  
Bronwyn Glaser ◽  
Melissa K. David ◽  
Carl Feinstein ◽  
Stephan Eliez
Keyword(s):  
Children And Adolescents ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion

Visual processing of emotional dynamic faces in 22q11.2 deletion syndrome

2016 ◽  
Vol 60 (4) ◽  
pp. 308-321 ◽  
Author(s):  
M. Franchini ◽  
M. Schaer ◽  
B. Glaser ◽  
M. Kott-Radecka ◽  
M. Debanné ◽  
...  
Keyword(s):  
Visual Processing ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Dynamic Faces

Longitudinal study of premorbid adjustment in 22q11.2 deletion (velocardiofacial) syndrome and association with psychosis

2016 ◽  
Vol 29 (1) ◽  
pp. 93-106 ◽  
Author(s):  
Petya D. Radoeva ◽  
Wanda Fremont ◽  
Kevin M. Antshel ◽  
Wendy R. Kates
Keyword(s):  
Early Adolescence ◽  
Velocardiofacial Syndrome ◽  
Structured Interview ◽  
School Age Children ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Prodromal Symptoms ◽  
Premorbid Adjustment ◽  
Increased Risk

AbstractVelocardiofacial syndrome, also known as 22q11.2 deletion syndrome (22q11DS), is associated with an increased risk of major psychiatric disorders, including schizophrenia. The emergence of psychotic symptoms in individuals with schizophrenia in the general population is often preceded by a premorbid period of poor or worsening social and/or academic functioning. Our current study evaluated premorbid adjustment (via the Cannon–Spoor Premorbid Adjustment Scale [PAS]) and psychotic symptoms (via the Structured Interview for Prodromal Symptoms and the Kiddie Schedule for Affective Disorders and Schizophrenia for School-Age Children—Present and Lifetime Version) in youth with 22q11DS (N = 96), unaffected siblings (N = 40), and community controls (N = 50). The PAS scores indicated greater maladjustment during all developmental periods in individuals with 22q11DS compared to the controls. Many participants with 22q11DS had chronically poor (n = 33) or deteriorating (n = 6) PAS scores. In 22q11DS, chronically poor PAS trajectories and poor childhood and early adolescence academic domain and total PAS scores significantly increased the risk of prodromal symptoms or overt psychosis. Taking into account the catechol-O-methyltransferase (COMT) genotype, the best predictor of (prodromal) psychosis was the early adolescence academic domain score, which yielded higher sensitivity and specificity in the subgroup of youth with 22q11DS and the high-activity (valine) allele. PAS scores may help identify individuals at higher risk for psychosis.

The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study

2018 ◽  
Vol 48 (1) ◽  
pp. 20-26 ◽  
Author(s):  
R. Weinberger ◽  
O. Weisman ◽  
Y. Guri ◽  
T. Harel ◽  
A. Weizman ◽  
...  
Keyword(s):  
Psychotic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Structured Interview ◽  
Neurocognitive Functioning ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
Psychiatric Evaluation ◽  
Neurocognitive Performance ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome

AbstractBackgroundThe 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories.MethodsForty-four participants with 22q11DS, 19 with Williams syndrome (WS) and 30 typically developing (TD) controls, age range 12–35 years, were assessed at two time points (15.2 ± 2.1 months apart). Evaluation included the Structured Interview for Prodromal Symptoms (SIPS), structured psychiatric evaluation and the Penn Computerized Neurocognitive Battery (CNB).Results22q11DS individuals with SPS had a yearly conversion rate to psychotic disorders of 8.8%, compared to none in both WS and TD controls. Baseline levels of negative SPS were associated with global neurocognitive performance (GNP), executive function and social cognition deficits, in individuals with 22q11DS, but not in WS. Deficits in GNP predicted negative SPS in 22q11DS and the emergence or persistence of negative SPS. 22q11DS individuals treated with psychiatric medications showed significant improvement in GNP score between baseline and follow-up assessments, an improvement that was not seen in untreated 22q11DS.ConclusionsOur results highlight the time-dependent interplay among positive and negative SPS symptoms, neurocognition and pharmacotherapy in the prediction of the evolution of psychosis in 22q11DS.

scholarly journals Disrupted working memory circuitry and psychotic symptoms in 22q11.2 deletion syndrome

2014 ◽  
Vol 4 ◽  
pp. 392-402 ◽  
Author(s):  
C.A. Montojo ◽  
A. Ibrahim ◽  
K.H. Karlsgodt ◽  
C. Chow ◽  
A.E. Hilton ◽  
...  
Keyword(s):  
Working Memory ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion

scholarly journals Assessing auditory processing endophenotypes associated with Schizophrenia in individuals with 22q11.2 Deletion Syndrome

2019 ◽  
Author(s):  
Ana A. Francisco ◽  
John J. Foxe ◽  
Douwe J. Horsthuis ◽  
Danielle DeMaio ◽  
Sophie Molholm
Keyword(s):  
Auditory Processing ◽  
Presentation Rate ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
Oddball Paradigm ◽  
Cognitive Measures ◽  
22Q11.2 Deletion ◽  
Brain Responses ◽  
Adaptation Effects

AbstractBackground22q11.2 Deletion Syndrome (22q11.2DS) is the strongest known molecular risk factor for schizophrenia. Brain responses to auditory stimuli have been studied extensively in schizophrenia and described as potential biomarkers of vulnerability to psychosis. We sought to understand whether these responses might aid in differentiating individuals with 22q11.2DS as a function of psychotic symptoms, and ultimately serve as signals of risk for schizophrenia.MethodsA duration oddball paradigm and high-density electrophysiology were used to test auditory processing in 26 individuals with 22q11.2DS (13-35 years old, 17 females) with varying degrees of psychotic symptomatology and in 26 age- and sex-matched neurotypical controls (NT). Presentation rate varied across three levels, to examine the effect of increasing demands on memory and the integrity of sensory adaptation. We tested whether N1 and mismatch negativity (MMN), typically reduced in schizophrenia, related to clinical/cognitive measures, and how they were affected by presentation rate.ResultsN1 adaptation effects interacted with psychotic symptomatology: Compared to an NT group, individuals with 22q11.2DS but no psychotic symptomatology presented larger adaptation effects, whereas those with psychotic symptomatology presented smaller effects. In contrast, individuals with 22q11.2DS showed increased effects of presentation rate on MMN amplitude, regardless of the presence of symptoms. While IQ and working memory were lower in the 22q11.2DS group, these measures did not correlate with the electrophysiological data.ConclusionsThese findings suggest the presence of two distinct mechanisms: One intrinsic to 22q11.2DS resulting in increased N1 and MMN responses; another related to psychosis leading to a decreased N1 response.

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