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

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

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.

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 A Case for Thalamic Mechanisms of Schizophrenia: Perspective From Modeling 22q11.2 Deletion Syndrome

2021 ◽  
Vol 15 ◽  
Author(s):  
Yanbo Jiang ◽  
Mary H. Patton ◽  
Stanislav S. Zakharenko
Keyword(s):  
Cognitive Deficits ◽  
Neural Circuits ◽  
Social Withdrawal ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Clinical Observations ◽  
Substantial Risk ◽  
22Q11.2 Microdeletion

Schizophrenia is a severe, chronic psychiatric disorder that devastates the lives of millions of people worldwide. The disease is characterized by a constellation of symptoms, ranging from cognitive deficits, to social withdrawal, to hallucinations. Despite decades of research, our understanding of the neurobiology of the disease, specifically the neural circuits underlying schizophrenia symptoms, is still in the early stages. Consequently, the development of therapies continues to be stagnant, and overall prognosis is poor. The main obstacle to improving the treatment of schizophrenia is its multicausal, polygenic etiology, which is difficult to model. Clinical observations and the emergence of preclinical models of rare but well-defined genomic lesions that confer substantial risk of schizophrenia (e.g., 22q11.2 microdeletion) have highlighted the role of the thalamus in the disease. Here we review the literature on the molecular, cellular, and circuitry findings in schizophrenia and discuss the leading theories in the field, which point to abnormalities within the thalamus as potential pathogenic mechanisms of schizophrenia. We posit that synaptic dysfunction and oscillatory abnormalities in neural circuits involving projections from and within the thalamus, with a focus on the thalamocortical circuits, may underlie the psychotic (and possibly other) symptoms of schizophrenia.

scholarly journals The role of 22q11.2 deletion syndrome in the relationship between congenital heart disease and scoliosis

2020 ◽  
Vol 20 (6) ◽  
pp. 956-963
Author(s):  
Jelle F. Homans ◽  
Steven de Reuver ◽  
Tracy Heung ◽  
Candice K. Silversides ◽  
Erwin N. Oechslin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
The Relationship

The 22q11.2 deletion syndrome as a model to investigate the role of T-cells in psychosis?

2016 ◽  
Vol 22 (1) ◽  
pp. 23-24
Author(s):  
E. Vergaelen ◽  
C. Schiweck ◽  
A. Swillen ◽  
H. Drexhage ◽  
S. Claes
Keyword(s):  
T Cells ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Episodic Future Thinking in Autism Spectrum Disorder and 22q11.2 Deletion Syndrome: Association with Anticipatory Pleasure and Social Functioning

2021 ◽  
Author(s):  
Clémence Feller ◽  
Charlotte Dubois ◽  
Stephan Eliez ◽  
Maude Schneider
Keyword(s):  
Social Functioning ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Typically Developing ◽  
Episodic Future Thinking ◽  
Future Thinking ◽  
22Q11.2 Deletion ◽  
Social Difficulties

AbstractEpisodic future thinking (EFT) has been suggested to underlie anticipatory pleasure (AP), itself known to play a crucial role in social functioning (SF). Both AP and SF are impaired in various clinical populations, including autism spectrum disorders (ASD) and 22q11.2 deletion syndrome (22q11DS). Therefore, the relationship between EFT, AP and SF was investigated, as well as the potential role of projecting oneself in a social vs. non-social context. Seventy-seven participants [24 with 22q11DS, 20 with ASD, 33 typically developing controls (TDs)] (aged 12–25) were included. They were assessed with a future thinking task in which they were asked to recall a memory and produce a likely event. Narratives were rated based of specificity, richness and imaginability. Participants completed questionnaires assessing AP and SF. Narratives from ASD and 22q11DS participants were rated as less vivid compared to TDs. However, the characteristics of the narratives differed between ASD and 22q11DS participants in terms of specificity and level of details, as well as in reaction to social condition. Moreover, correlations were found between AP and EFT in both ASD and 22q11DS participants, and between SF and EFT in ASD participants. These results point towards impairments in EFT in both ASD and 22q11DS participants but with a specific profile in each condition. The observed associations between EFT and AP suggest that decreased autonoetic consciousness might underlie AP impairments. In ASD individuals, the association between SF and EFT highlights the need to better characterize EFT since EFT could be another mechanism contributing to social difficulties.

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