Obsessive Compulsive and Psychotic Symptoms in Adolescent Woman with 22q11.2 Deletion Syndrome and Intellectual Disability: A Case Report

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.

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

NeuroImage Clinical ◽

10.1016/j.nicl.2014.01.010 ◽

2014 ◽

Vol 4 ◽

pp. 392-402 ◽

Cited By ~ 18

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

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

Psychological Medicine ◽

10.1017/s0033291716003482 ◽

2017 ◽

Vol 47 (8) ◽

pp. 1442-1453 ◽

Cited By ~ 3

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.

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