4.45 Clinical Manifestations of 22q11.2 Deletion Syndrome and the Role of Prematurity in the Emergence of Psychosis

2017 ◽  
Vol 56 (10) ◽  
pp. S244
Author(s):  
Yael Kufert ◽  
Abraham Weizman ◽  
Doron Gothelf
Keyword(s):  
Clinical Manifestations ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals An Overview of the Trajectory of Brazilian Individuals with 22q11.2 Deletion Syndrome Until Diagnosis.

2021 ◽  
Author(s):  
Isabela Mayá Wayhs Silva ◽  
Vera Lúcia Gil-da-Silva-Lopes
Keyword(s):  
Health Professionals ◽  
Access To Health Care ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
22Q11.2 Deletion Syndrome ◽  
The Body ◽  
Deletion Syndrome ◽  
Cardiac Malformation ◽  
22Q11.2 Deletion ◽  
The Moment

Abstract Background: 22q11.2 Deletion Syndrome (22q11.2DS) is a rare disease that has as an important characteristic the clinical heterogeneity. The diversity of organs, regions, and systems of the body that can be affected requires periodic updating of health professionals so that they can recognize this clinical signs as belonging to 22q11.2DS. Updated health professionals are equally important for the appropriate and timely establishment of clinical management for individuals with a positive diagnosis. In this context, this article aimed to map and analyse the access to health care for individuals with 22q11.2DS until the moment of diagnosis. Results: We analysed clinical data of 111 individuals with 22q11.2DS registered in the Brazilian Database on Craniofacial Anomalies (BDCA) from 2008 to 2020. In this study, individuals were diagnosed with a median age of 9 years (mean = 9.7 years). Before genetic investigation, they accessed 68.75% of the international recommended evaluations available at BDCA. Recurrent 22q11.2DS clinical manifestations as delayed neuropsychomotor development, lip and/or palate defects, cardiac malformation and/or hematological/immunological alteration co-occurred in at least 72.06% of individuals. Cardiac malformation was the only clinical alteration that led to a lower median diagnostic age, corresponding to 6.5 years of age with a cardiac malformation versus 11 years of age without a cardiac malformation (p = 0.0006). Conclusions: In Brazil, 22q11.2 DS is under recognized and early diagnosis and management of affected individuals are still a distant reality. In this sense, the identification followed by the correction of obstacles that do not allow this reality are essential to increase life expectancy and improve the quality of life of these individuals in Brazil

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

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 Variability of CATCH-22 symptome complex within the framework of 22q11.2 deletion syndrome

2021 ◽  
Vol 23 (6) ◽  
pp. 1357-1366
Author(s):  
D. A. Cheremokhin ◽  
S. S. Deryabina ◽  
I. A. Tuzankina ◽  
E. V. Vlasova ◽  
N. V. Nikitina ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Molecular Genetic ◽  
Clinical Manifestations ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Phenotypic Traits ◽  
Chromosome 22 ◽  
22Q11.2 Deletion ◽  
Wide Range ◽  
Catch 22

Chromosomal pathology is one of the most common causes of congenital malformations. The CATCH-22 symptom complex is most often associated with a microdeletion of chromosome 22, upon detection of which it is customary to diagnose DiGeorge syndrome, a known primary immunodeficiency or syndrome of innate errors of immunity. According to our data on the frequency of occurrence among all chromosomal abnormalities, DiGeorge’s syndrome takes second place in the Sverdlovsk region after Down’s syndrome, but its diagnosis is not simple due to varying severity of clinical manifestations, as well as different forms of the chromosome 22 defects. Along with several typical variants of 22q11 microdeletions, there duplications of critical regions are also reported, accompanied by immunodeficiency and other symptoms of CATCH-22. The effectiveness of diagnosing chromosomal abnormalities both in pre- and postnatal period largely depends on the grouping criteria of the patients with suspected chromosomal abnormalities, and on the methods used to identify hereditary pathology. In our study, we analyzed and compared the results of studies of 23 patients with various rearrangements of the 22q11.2 region, which were observed by a geneticist and clinical immunologist. The paper presents data on the polymorphism of phenotypes associated with rearrangements of the 22q11.2 region with an analysis of pathomorphological manifestations depending on the type of structural anomaly, i.e, del22q11.2, or dup22q11.2. The results of analysis demonstrate importance of different diagnostic options for laboratory studies of microdeletion and microduplication syndromes associated with immune-dependent pathology. We also compared the results of molecular genetic diagnostics and phenotypic manifestations in deletions and duplications of the 22q11.2 region. To identify the rearrangements of 22q11.2 region, two different methods were used – Prenatal BoBs and multiplex ligase-dependent probes’ amplification (MLPA). In particular, the both methods were used in the same patient to verify diagnosis, thus enabling to show differences in their efficiency. It was concluded that 22q11.2 deletion syndrome exhibits wide heterogeneity in phenotypic traits: neurological and immunological manifestations, anomalies in musculoskeletal development and internal organs, skull deformities and facial dysmorphia. Each clinical case was unique, requiring careful analysis of clinical manifestations. It is necessary to have a wide range of laboratory options for molecular genetic verification of the diagnosis.

Clinical Manifestations of 22q11.2 Deletion Syndrome

2021 ◽  
Author(s):  
Annapaolo Cirillo ◽  
Michele Lioncino ◽  
Annachiara Maratea ◽  
Annalisa Passariello ◽  
Adelaide Fusco ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion
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