scholarly journals Treatment of 22q11.2 deletion syndrome-associated schizophrenia with comorbid anxiety and panic disorder

2017 ◽  
Vol 9 (2) ◽  
Author(s):  
Candace B. Borders ◽  
Amanda Suzuki ◽  
David Safani
Keyword(s):  
Risk Factor ◽  
Panic Disorder ◽  
Adverse Effects ◽  
Late Onset ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Psychiatric Illnesses ◽  
Increased Risk

22q11.2 deletion syndrome (22q11DS) is a risk factor for psychiatric illnesses, including schizophrenia and anxiety. Small studies have shown that several neuroleptic medications are effective in treating psychosis in this population, but are also associated with an increased risk of adverse effects - particularly, seizures. In this case, we discuss a 34-year-old patient presenting with late onset schizophrenia, which ultimately led to her diagnosis of 22q11DS. Subsequent management of the patient’s psychosis with asenapine was complicated by concurrent anxiety and panic disorder; thus, we examine the role of anxiolytic therapy in conjunction with antipsychotics in this patient population.

scholarly journals Treatment of 22q11.2 deletion syndrome-associated schizophrenia with comorbid anxiety and panic disorder

2017 ◽  
Vol 9 (2) ◽  
pp. 54-56
Author(s):  
Candace B. Borders ◽  
Amanda Suzuki ◽  
David Safani
Keyword(s):  
Risk Factor ◽  
Panic Disorder ◽  
Adverse Effects ◽  
Late Onset ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Psychiatric Illnesses ◽  
Increased Risk

22q11.2 deletion syndrome (22q11DS) is a risk factor for psychiatric illnesses, including schizophrenia and anxiety. Small studies have shown that several neuroleptic medications are effective in treating psychosis in this population, but are also associated with an increased risk of adverse effects - particularly, seizures. In this case, we discuss a 34-year-old patient presenting with late onset schizophrenia, which ultimately led to her diagnosis of 22q11DS. Subsequent management of the patient's psychosis with asenapine was complicated by concurrent anxiety and panic disorder; thus, we examine the role of anxiolytic therapy in conjunction with antipsychotics in this patient population.

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.

scholarly journals Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

PLoS ONE ◽  
2019 ◽  
Vol 14 (4) ◽  
pp. e0211170 ◽  
Author(s):  
Gioia Mastromoro ◽  
Giulio Calcagni ◽  
Paolo Versacci ◽  
Carolina Putotto ◽  
Marcello Chinali ◽  
...  
Keyword(s):  
Pulmonary Artery ◽  
22Q11.2 Deletion Syndrome ◽  
Left Pulmonary Artery ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Cardiac Defects ◽  
Echocardiographic Evaluation

The role of COMT and plasma proline in the variable penetrance of autistic spectrum symptoms in 22q11.2 deletion syndrome

2016 ◽  
Vol 90 (5) ◽  
pp. 420-427 ◽  
Author(s):  
E. Hidding ◽  
H. Swaab ◽  
L.M.J. de Sonneville ◽  
H. van Engeland ◽  
J.A.S. Vorstman
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Autistic Spectrum ◽  
Variable Penetrance

Low prevalence of substance use in people with 22q11.2 deletion syndrome

2019 ◽  
Vol 215 (5) ◽  
pp. 661-667 ◽  
Author(s):  
Claudia Vingerhoets ◽  
Mathilde J.F. van Oudenaren ◽  
Oswald J.N. Bloemen ◽  
Erik Boot ◽  
Esther D.A. van Duin ◽  
...  
Keyword(s):  
Substance Use ◽  
Substance Use Disorders ◽  
Psychotic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Healthy Controls ◽  
22Q11.2 Deletion ◽  
Comt Genotype ◽  
Cross Sectional ◽  
Increased Risk

Background22q11.2 deletion syndrome (22q11DS), one of the most common recurrent copy number variant disorders, is associated with dopaminergic abnormalities and increased risk for psychotic disorders.AimsGiven the elevated prevalence of substance use and dopaminergic abnormalities in non-deleted patients with psychosis, we investigated the prevalence of substance use in 22q11DS, compared with that in non-deleted patients with psychosis and matched healthy controls.MethodThis cross-sectional study involved 434 patients with 22q11DS, 265 non-deleted patients with psychosis and 134 healthy controls. Psychiatric diagnosis, full-scale IQ and COMT Val158Met genotype were determined in the 22q11DS group. Substance use data were collected according to the Composite International Diagnostic Interview.ResultsThe prevalence of total substance use (36.9%) and substance use disorders (1.2%), and weekly amounts of alcohol and nicotine use, in patients with 22q11DS was significantly lower than in non-deleted patients with psychosis or controls. Compared with patients with 22q11DS, healthy controls were 20 times more likely to use substances in general (P < 0.001); results were also significant for alcohol and nicotine use separately. Within the 22q11DS group, there was no relationship between the prevalence of substance use and psychosis or COMT genotype. Male patients with 22q11DS were more likely to use substances than female patients with 22q11DS.ConclusionsThe results suggest that patients with 22q11DS are at decreased risk for substance use and substance use disorders despite the increased risk of psychotic disorders. Further research into neurobiological and environmental factors involved in substance use in 22q11DS is necessary to elucidate the mechanisms involved.Declaration of interestNone.

scholarly journals Seeing Eye to Eye With Threat: Atypical Threat Bias in Children With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 124 (6) ◽  
pp. 549-567 ◽  
Author(s):  
Abbie M. Popa ◽  
Joshua R. Cruz ◽  
Ling M. Wong ◽  
Danielle J. Harvey ◽  
Kathleen Angkustsiri ◽  
...  
Keyword(s):  
Response Time ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Typically Developing ◽  
Threat Bias ◽  
22Q11.2 Deletion ◽  
Emotional Faces ◽  
Increased Risk ◽  
Measured Response ◽  
Over Time

Abstract Individuals with 22q11.2 deletion syndrome (22q11DS) show high rates of anxiety associated with their increased risk of developing schizophrenia. Biased attention is associated with anxiety and is important to investigate in those with 22q11DS given this association. We analyzed attention bias to emotional faces in 7- to 17-year olds with 22q11DS and typically developing controls (TD) using a dot probe threat bias paradigm. We measured response time, eye tracking, and pupilometry. Those with 22q11DS showed no significant changes in early versus late trials, whereas those who were TD showed differing patterns in both gaze and pupilometry over time. The patterns in those who are TD may indicate adaptation that is lacking or slower in individuals with 22q11DS.

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