22q11.2 deletion syndrome and schizophrenia

Qin, Xianzheng; Jiang, Chen; Zhou, Tian

doi:10.1093/abbs/gmaa113

Cited by 22 publications

(19 citation statements)

References 118 publications

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“…Although our main limitation is that neuronal antibodies were negative in our patient’s serum and CSF, which are mandatory to reach a definite diagnosis ( 9 ), she presented other characteristic clinical features that strongly suggest an NMDAR-like AE, such as paradoxical worsening of psychotic symptoms and dyskinetic movements after antipsychotic administration ( 12 ). Nevertheless, the psychotic symptoms could be explained by the inclusion of schizophrenia susceptibility genes as DGCR8, DGCR2, ZDHHC8, and PRODH within the microdeletion responsible for 22q11DS ( 13 ). Similarly, antipsychotic intolerance could be explained by the inclusion of the gene COMT, which encodes an enzyme involved in the dopaminergic metabolism ( 14 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome

et al. 2021

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Chromosome 22q11.2 deletion syndrome (22q11DS) is characterized by congenital cardiac abnormalities, hypoplastic thymus, palatal abnormalities, and hypocalcemia, although other clinical features are frequent such as autoimmune and psychiatric disorders. One-third of the patients have psychotic disorders, frequently followed by developmental regression and long-term cognitive disturbances. Despite humoral and cellular immunodeficiency are common in 22q11DS, it is associated with an increased prevalence of autoimmune disorders such as idiopathic thrombocytopenic purpura and juvenile idiopathic arthritis, likely due to immune dysregulations associated with thymic abnormalities, which plays a major role in self-tolerance. We report an unique case of a 14-year-old girl with 22q11DS that presented with subacute psychotic symptoms, intolerance to antipsychotics, CSF pleocytosis, and EEG abnormalities, that was successfully treated with empiric immunotherapy after fulfilling criteria for probable seronegative autoimmune encephalitis and probable autoimmune psychosis. The autoimmune etiology of these clinical features of 22q11DS has never been postulated despite the predisposition of this syndrome to present autoimmune disorders. We suggest the systematic evaluation with serum and CSF neuronal antibodies, MRI, and EEG of patients with 22q11DS that develop subacute psychotic symptoms or rapidly progressive cognitive decline. Early immunomodulatory therapies should be carefully considered if criteria of probable autoimmune psychosis or possible autoimmune encephalitis are fulfilled, as it may prevent long-term disabilities. Further studies are required to assess the autoimmune origin of psychosis and cognitive impairment associated with 22q11DS.

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Section: Discussionmentioning

confidence: 99%

Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome

et al. 2021

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“…In humans, 22q11.2 deletion is associated with several psychiatric diseases, such as psychosis, mood and anxiety disorders, and attention deficit hyperactivity disorder (ADHD) [ 160 ]. Studies have shown that subjects with 22q11.2 deletion exhibit a 25% risk of developing schizophrenia symptoms, whereas the prevalence in the general population is up to 1% [ 161 ].…”

Section: Genetic Modelsmentioning

confidence: 99%

Advantages and Limitations of Animal Schizophrenia Models

Białoń

Wąsik

2022

IJMS

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Mental illness modeling is still a major challenge for scientists. Animal models of schizophrenia are essential to gain a better understanding of the disease etiopathology and mechanism of action of currently used antipsychotic drugs and help in the search for new and more effective therapies. We can distinguish among pharmacological, genetic, and neurodevelopmental models offering various neuroanatomical disorders and a different spectrum of symptoms of schizophrenia. Modeling schizophrenia is based on inducing damage or changes in the activity of relevant regions in the rodent brain (mainly the prefrontal cortex and hippocampus). Such artificially induced dysfunctions approximately correspond to the lesions found in patients with schizophrenia. However, notably, animal models of mental illness have numerous limitations and never fully reflect the disease state observed in humans.

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“…1 Also known as "DiGeorge syndrome", microdeletion in this region contributes to defective development of the pharyngeal pouch system in early embryonic life and, as such, there are a wide range of clinical phenotypes associated with 22q11.2 deletion syndrome. [1][2][3][4] Structural abnormalities commonly associated with this condition include conotruncal cardiac defects, thymic hypoplasia, craniofacial abnormalities (including cleft palate), gastrointestinal and genitourinary malformations, poor growth, and even problems with thyroid and parathyroid development. [1][2][3] Postnatally, those with 22q11.2 deletion syndrome can also present with hypocalcemia, immunodeficiency, and failure to thrive.…”

Section: Introductionmentioning

confidence: 99%

Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study

Pylypjuk¹,

Memon²,

Chodirker³

2022

TACG

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To evaluate the utility of measuring fetal cavum septum pellucidum (CSP) width during routine, mid-pregnancy ultrasound for improving diagnosis of 22q11.2 deletion syndrome amongst fetuses with and without conotruncal anomalies. Patients and Methods: This was a retrospective case-control study (2005)(2006)(2007)(2008)(2009)(2010)(2011)(2012)(2013)(2014)(2015)(2016). Fetuses and newborns with 22q11.2 deletion and/ or conotruncal cardiac anomalies were identified using a regional, clinical database. A control group was assembled in a 2:1 ratio to create three groups for comparison: i) 22q11.2 deletion syndrome; ii) isolated conotruncal anomalies; and iii) controls. Eligibility was restricted to those with stored ultrasound images between 18-22 weeks' gestation and a minimum biparietal diameter of 40 mm. Postprocessing measurement of CSP width was performed in a standardized fashion by two blinded and independent study personnel. Descriptive and inferential statistics, regression modeling, and receiver operator curves (ROC) were used to compare outcomes between groups and evaluate sensitivity/specificity of CSP width as a marker of 22q11.2 deletion syndrome. Results: Twenty-nine cases of 22q11.2 deletion and 64 cases of isolated conotruncal anomalies were matched to 186 healthy controls. Cases with 22q11.2 deletion syndrome had significantly larger CSP widths (5.36 mm; SD=1.2) compared to those with isolated conotruncal anomalies (3.75 mm; SD=1.11) and healthy controls (2.93 mm; SD=0.57; p<0.0001). There was no difference in CSP width amongst those with 22q11.2 deletion irrespective of the presence/absence of a conotruncal anomaly (p=0.362), or by type of conotruncal anomaly (p=0.211). Using a CSP width cutoff >4.3 mm, fetuses with 22q11.2 deletion can be accurately identified with good sensitivity (89.7%) and specificity (84%). Conclusion: Fetuses with 22q11.2 deletion syndrome have dilated CSPs when compared to those with isolated conotruncal anomalies or controls. Because CSP dilation can be evaluated during routine mid-pregnancy ultrasound using standard images of the fetal head, measurement could easily be incorporated to enhance prenatal diagnosis of this phenotypically diverse condition.

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22q11.2 deletion syndrome and schizophrenia

Cited by 22 publications

References 118 publications

Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome

Case Report: Autoimmune Psychosis in Chromosome 22q11.2 Deletion Syndrome

Advantages and Limitations of Animal Schizophrenia Models

Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study

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