The 22q11.2 deletion syndrome (22q11DS) defines a set of developmental abnormalities due to a loss of genetic material. Phenotypic expression is highly varied. The immunological alterations that present as a severe combined immunodeficiency and the neurodevelopmental alterations stand out, especially the psychotic symptoms. It is the best described genetic alteration for the development of psychosis, presenting up to 30% of patients with compatible symptoms, with various hypotheses that justify it.

General objective:

1. Justify that SD2q11 can be used as a model for human research on the origin of psychosis.

1. Describe the pro-inflammatory state present in SD2q11.

2. Describe differences at the immunological level in SD2q11 among those patients with presence of psychotic symptoms of those who do not present them.

3. Describe possible biomarkers.

A systematic review of the literature in the last 5 years using electronic resources (PubMed and WOS) until June 2021 following the PRISMA recommendations.

Three original articles were reviewed. There is a very marked pro-inflammatory state in 22q11DS patients with psychotic symptoms. They present an increase in subpopulations of CD4. The IL-17 is important in the formation in primitive stages of the hippocampus, its ease of breaking the blood-brain barrier (BBB). The neutrophil / lymphocyte ratio is presented as a possible biomarker to predict patients at high risk of developing psychosis.

There is sufficient evidence that patients with 22q11DS can be used as a research model regarding possible hypotheses about the genesis of psychosis.

No significant relationships.

22q11.2 deletion syndrome is the most common microdeletion syndrome. Its clinical presentation varies and it may present several medical complications, namely heart defects, cleft palate, autoimmune diseases, delayed development, and psychiatric disorders. In these patients, psychiatric disorders are frequent and may include attention-deficit hyperactivity disorder, anxiety disorders, autism spectrum disorder, and schizophrenia spectrum disorders.

We aim to characterize psychosis in patients diagnosed with 2q11.2 deletion syndrome, which is one of the most frequent psychiatric presentations.

To introduce the topic of 22q11.2 psychiatric symptoms, we will start by presenting a clinical case. Then, a review of the related literature using the Pubmed database using the following expression “22q11.2 deletion syndrome”; “DiGeorge syndrome”; “velocardiofacial syndrome”; “psychosis”; “psychiatric disorders”.

Patients diagnosed with 22q11.2 deletion syndrome are considered high-risk for psychosis. In this clinical case, we present a 19-year old man diagnosed with 22q11.2 deletion syndrome who was admitted to a psychiatric ward for psychosis. The knowledge of the increased risk for psychosis in these patients should be taken into account in the face of behavioral changes de novo to assure a timely therapeutic approach. Currently, the treatment does not differ from other patients, but this is mainly due to the lack of knowledge on the best therapeutic approach in this specific diagnosis.

Genetic syndromes are often associated with psychiatric disorders. Patients diagnosed with 22q11.2 deletion syndrome are at high risk for psychosis and should deserve a multidisciplinary approach so that their diagnosis and treatment are established as early as possible.

No significant relationships.

The 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.

Forty-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).

22q11DS 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.

Our 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.

Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with high rates of psychiatric disorders, including schizophrenia in up to 30% of individuals with the syndrome. Despite this, we know relatively little about trajectories and predictors of persistence of psychiatric disorders from middle childhood to early adulthood. Accordingly, we followed youth over four timepoints, every 3 years, to assess long-term trajectories of attention-deficit hyperactivity disorder (ADHD), anxiety, mood, and psychosis-spectrum disorders (PSDs), as well as medication usage.

Eighty-seven youth with 22q11DS and 65 controls between the ages of 9 and 15 years at the first timepoint (T1; mean age 11.88 ± 2.1) were followed for 9 years (mean age of 21.22 ± 2.01 years at T4). Baseline cognitive, clinical, and familial predictors of persistence were identified for each class of psychiatric disorders.

Baseline age and parent-rated hyperactivity scores predicted ADHD persistence [area under curve (AUC) = 0.81]. The presence of family conflict predicted persistence of anxiety disorders (ADs) whereas parent ratings of child internalizing symptoms predicted persistence of both anxiety and mood disorders (MDs) (AUC = 0.84 and 0.83, respectively). Baseline prodromal symptoms predicted persistent and emergent PSDs (AUC = 0.83). Parent-reported use of anti-depressants/anxiolytics increased significantly from T1 to T4.

Psychiatric, behavioral, and cognitive functioning during late childhood and early adolescence successfully predicted children with 22q11DS who were at highest risk for persistent psychiatric illness in young adulthood. These findings emphasize the critical importance of early assessments and interventions in youth with 22q11DS.

A 22q11 chromosome deletion is common in patients with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals. We sought to determine whether 22q11 chromosome deletion is associated with increased postoperative morbidity after unifocalisation surgery.

We included all patients with this diagnosis undergoing primary or revision unifocalisation ± ventricular septal defect closure at our institution from 2008 to 2016, and we excluded patients with unknown 22q11 status. Demographic and surgical data were collected. We compared outcomes between those with 22q11 chromosome deletion and those without using non-parametric analysis.

We included 180 patients, 41% of whom were documented to have a chromosome 22q11 deletion. Complete unifocalisation was performed in all patients, and intracardiac repair was performed with similar frequency regardless of 22q11 chromosome status. Duration of mechanical ventilation was longer in 22q11 deletion patients. This difference remained significant after adjustment for delayed sternal closure and/or intracardiac repair. Duration of ICU stay was longer in patients with 22q11 deletion, although no longer significant when adjusted for delayed sternal closure and intracardiac repair. Finally, length of hospital stay was longer in 22q11-deleted patients, but this difference was not significant on unadjusted or adjusted analysis.

Children with tetralogy of Fallot, pulmonary atresia, and major aortopulmonary collaterals and 22q11 deletion are at risk for greater prolonged mechanical ventilation after unifocalisation surgery. Careful attention should be given to the co-morbidities of this population in the perioperative period to mitigate risks that may complicate the postoperative course.

22q11.2 microdeletion is the most common microdeletion in the global population. Congenital cardiac disease is the most frequently observed feature of this syndrome. The prognosis of patients with 22q11.2 copy number aberrations varies from those without 22q11.2 deletion or duplication.

We enrolled 241 patients from Nanjing Drum Tower Hospital and Nanjing Sick Children’s Hospital, 227 being scheduled for cardiac surgery, and 14 cases being fetuses aged from 24 to 36 gestational weeks. We performed karyotypic analysis and multiplex ligation-dependent probe amplification in all cases.

Karyotypic analysis demonstrated 3 cases with trisomy 21, and 1 case with mosaic trisomy 8 [47,XY,+8/46,XY(1:2)]. Multiplex ligation-dependent probe amplification analysis revealed 10 cases (4.15%) with changes in the number of copies within the region of 22q11.2, of which 7 cases were hemizygous interstitial microdeletion from CLTCL1 to LZTR1, 1 case with deletion of the region from CLTCL1 to PCQAP, and 2 cases with 22q11.2 duplication, one of which spanned from ZNF74 to LZTR1, and simultaneously showed trisomy 21 by karyotyping analysis, and the other spanned from HIC2 to TOP3B. The phenotypes of the cardiac lesions included 3 cases of ventricular septal defect, 3 of tetralogy of Fallot, 2 of combined ventricular and atrial septal defects, and 2 with pulmonary arterial stenosis.

Patients with congenitally malformed hearts who are scheduled for cardiac surgery, as well as fetuses with congenital cardiac disease, should routinely undergo karyotypic analysis and examination for 22q11.2 aberrations. Multiplex ligation-dependent probe amplification has been proven to be a cost-effective diagnostic technique for 22q11 deletion syndrome.

The purpose of this study was to clarify the clinical characteristics of interruption of the aortic arch associated with chromosome 22q11 deletion.

About half of patients with interruption of the aortic arch between the left common carotid and the left subclavian artery have deletion of chromosome 22q11.

In total, 20 patients with interruption of the aortic arch were studied with fluorescence in situ hybridization using peripheral lymphocytes and a DiGeorge syndrome chromosomal probe (Oncor N25). Cardiovascular anomalies in these patients were diagnosed by cross-sectional echocardiography and angiocardiography, and were confirmed at intracardiac repair.

Of 13 patients with interruption between the left common carotid artery and the left subclavian artery, seven had the deletion. All 7 also showed thymic hypoplasia and hypocalcemia, together with a nasal voice and peculiar facies. Six of the seven patients had complete deficiency of the muscular outlet septum, with the defect extending to the perimembranous area. Such complete absence of the muscular outlet septum was not present in any of the patients without the deletion.

Interruption of the aortic arch between the left common carotid and the left subclavian artery, absence of the thymus, and complete absence of the muscular outlet septum, were characteristic in Japanese patients with interruption of the aortic arch associated with deletion of chromosome 22q11.