scholarly journals Recognizing a common genetic syndrome: 22q11.2 deletion syndrome

2008 ◽  
Vol 178 (4) ◽  
pp. 391-393 ◽  
Author(s):  
R. K. Kapadia ◽  
A. S. Bassett
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome

scholarly journals Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
A. Bahji ◽  
S. Khalid-Khan
Keyword(s):  
Case Reports ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Medical Illness ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Potential Risk Factors ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

22q11.2 duplication syndrome is a recently discovered genetic syndrome with unclear neuropsychiatric sequelae. While its connection to 22q11.2 deletion syndrome is actively investigated, case reports on the neuropsychiatric sequelae of affected individuals have been previously described, largely focusing on comorbid autism spectrum disorder. Here, we present the case of an 8-year-old female experiencing episodes of severe behavioural regression following medical illness. We analyze the case and relate it to the available literature and identify potential risk factors.

The interaction between neurocognitive functioning, subthreshold psychotic symptoms and pharmacotherapy in 22q11.2 deletion syndrome: A longitudinal comparative study

2018 ◽  
Vol 48 (1) ◽  
pp. 20-26 ◽  
Author(s):  
R. Weinberger ◽  
O. Weisman ◽  
Y. Guri ◽  
T. Harel ◽  
A. Weizman ◽  
...  
Keyword(s):  
Psychotic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Structured Interview ◽  
Neurocognitive Functioning ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
Psychiatric Evaluation ◽  
Neurocognitive Performance ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome

AbstractBackgroundThe 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.MethodsForty-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).Results22q11DS 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.ConclusionsOur 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.

scholarly journals Hypocalcemia due to 22q11.2 deletion syndrome diagnosed in adulthood

2018 ◽  
Vol 2018 ◽  
Author(s):  
Maria Cabrer ◽  
Guillermo Serra ◽  
María Soledad Gogorza ◽  
Vicente Pereg
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Neck Surgery ◽  
Hereditary Disease ◽  
Deletion Syndrome ◽  
List Type ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Chromosome 22Q11.2 ◽  
Symptomatic Hypocalcemia ◽  
New Diagnosis

Summary Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic syndrome that may present with hypocalcemia due to primary hypoparathyroidism (PH) at any age. We report a new diagnosis of 22q11.2DS in a 57-year-old man who presented with symptomatic hypocalcemia. It is important to consider genetic causes of hypocalcemia due to PH regardless of age. Learning points: It is important to discard genetic cause of primary hypoparathyroidism in a patient without autoimmune disease or prior neck surgery. A new diagnosis of a hereditary disease has familial implications and needs genetic counselling. It is also important to discard other syndrome’s comorbidities.

scholarly journals In vivo evidence of microstructural hypo-connectivity of brain white matter in 22q11.2 deletion syndrome

2020 ◽  
Author(s):  
Erika Raven ◽  
Jelle Veraart ◽  
Rogier Kievit ◽  
Sila Genc ◽  
Isobel Ward ◽  
...  
Keyword(s):  
White Matter ◽  
Large Scale ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Typically Developing ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Brain White Matter ◽  
Axonal Morphology

Abstract 22q11.2 Deletion Syndrome, or 22q11.2DS, is a genetic syndrome associated with high rates of schizophrenia, autism, and attention deficit hyperactivity disorder, in addition to widespread structural and functional abnormalities throughout the brain. Experimental animal models have identified neuronal connectivity deficits, e.g., decreased axonal length and complexity of axonal branching, as a primary mechanism underlying atypical brain development in 22q11.2DS. However, it is still unclear whether deficits in axonal morphology can also be observed in people with 22q11.2DS. Here, we provide an unparalleled in vivo characterisation of white matter microstructure in both typically-developing children and children with 22q11.2DS using a dedicated magnetic resonance imaging scanner which is sensitive to axonal morphology. By extracting a rich array of diffusion metrics, we present microstructural profiles of typical and atypical white matter development, and provide new evidence of connectivity differences between typically-developing and 22q11.2DS children. A recent, large-scale consortium study identified higher diffusion anisotropy and reduced overall mobility of water as hallmark microstructural alterations of white matter in 22q11.2DS, in particular for commissural fibers. We observed similar findings across all white matter tracts in this study, in addition to identifying deficits in axonal morphology. This, in combination with reduced tract volume measurements, supports the hypothesis that microstructural connectivity in 22q11.2DS is mediated by densely packed axons with disproportionately small diameters. Our findings provide insight into the in vivo mechanistic features of 22q11.2DS, and promote further investigation of shared features in neurodevelopmental and psychiatric disorders.

scholarly journals Speech and language abilities of children with the familial form of 22q11.2 deletion syndrome

Genetika ◽  
2016 ◽  
Vol 48 (1) ◽  
pp. 57-72
Author(s):  
Marijana Rakonjac ◽  
Goran Cuturilo ◽  
Milena Stevanovic ◽  
Ida Jovanovic ◽  
Ljiljana Jelicic-Dobrijevic ◽  
...  
Keyword(s):  
De Novo ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Speech And Language ◽  
Language Abilities ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Congenital Heart Malformations ◽  
Familial Form ◽  
22Q11.2 Microdeletion

The 22q11.2 Deletion Syndrome (22q11.2DS), which encompasses Shprintzen syndrome, DiGeorge and velocardiofacial syndrome, is the most common microdeletion syndrome in humans with an estimated incidence of approximately 1/4000 per live births. After Down syndrome, it is the second most common genetic syndrome associated with congenital heart malformations. The mode of inheritance of the 22q11.2DS is autosomal dominant. In approximately 72 - 94% of the cases the deletion has occurred de novo, while in 6 to 28% of patients deletion was inherited from a parent. As a part of a multidisciplinary study we examined the speech and language abilities of members of two families with inherited form of 22q11.2DS. The presence of 22q11.2 microdeletion was revealed by fluorescence in situ hybridization (FISH) and/or multiplex ligation-dependent probe amplification (MLPA). In one family we detected 1.5 Mb 22q11.2 microdeletion, while in the other family we found 3Mb microdeletion. Patients from both families showed delays in cognitive, socio-emotional, speech and language development. Furthermore, we found considerable variability in the phenotypic characteristics of 22q11.2DS and the degree of speech-language pathology not only between different families with 22q11.2 deletion, but also among members of the same family. In addition, we detected no correlation between the phenotype and the size of 22q11.2 microdeletion.

scholarly journals Social cognition in individuals with 22q11.2 deletion syndrome and its link with psychopathology and social outcomes: a review

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Branka Milic ◽  
Clémence Feller ◽  
Maude Schneider ◽  
Martin Debbané ◽  
Henriette Loeffler-Stastka
Keyword(s):  
Social Cognition ◽  
Preventive Intervention ◽  
22Q11.2 Deletion Syndrome ◽  
Social Outcomes ◽  
Present Review ◽  
Sufficient Evidence ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Increased Risk

Abstract Background The 22q11.2 deletion syndrome (22q11DS) is a genetic syndrome that results in a highly variable profile of affected individuals of which impairments in the social domain and increased psychopathology are the most prominent. Notably, 25–30% of affected individuals eventually develop schizophrenia/psychosis, predisposing persons with the syndrome to increased risk for this disorder. Because social cognition is considered to underlie social behavior and to be related to psychopathology, this systematic review investigated social cognition in individuals with 22q11DS and examined reported links across its domains with psychopathology and social outcomes. This can provide the basis for a closer understanding of the path from risk to disorder and will inform on the specific domains that can be targeted with preventive intervention strategies. Method Systematic literature review of studies that reported the links between social cognitive domains and psychopathology and/or social outcomes in individuals with 22q11DS. Electronic databases searched were PubMed and PsycINFO. Results Defined eligibility criteria identified a total of ten studies to be included in the present review. Selected studies investigated links between two domains of social cognition (emotion processing and theory of mind (ToM)) and psychopathology and/or social outcomes. With respect to the links to psychopathology, two aspects of social cognition were related primarily to negative symptoms. Results regarding the associations to positive and emotional symptoms (anxiety/depression) are limited and require further investigation. Even though both aspects of social cognition were associated with social outcomes, several studies also found no links between these two domains. Both reports invite for an additional examination of reported results and specific considerations regarding chosen constructs. Conclusion Although equivocal, results of the present review provide sufficient evidence that social cognition is a useful domain for the closer elucidation of clinical outcomes and social difficulties in this population. At the same time, longitudinal studies and consideration of other variables are also necessary for a timely understanding of affected persons in this respect.

scholarly journals Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels

Genes ◽  
2020 ◽  
Vol 11 (9) ◽  
pp. 977
Author(s):  
Małgorzata Karbarz
Keyword(s):  
Clinical Manifestations ◽  
Monozygotic Twins ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Chromosome 22 ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Transcript Levels ◽  
22Q11.2 Microdeletion ◽  
Genome Level

Chromosomal 22q11.2 deletion syndrome (22q11.2DS) (ORPHA: 567) caused by microdeletion in chromosome 22 is the most common chromosomal microdeletion disorder in humans. Despite the same change on the genome level, like in the case of monozygotic twins, phenotypes are expressed differently in 22q11.2 deletion individuals. The rest of the genome, as well as epigenome and environmental factors, are not without influence on the variability of phenotypes. The penetrance seems to be more genotype specific than deleted locus specific. The transcript levels of deleted genes are not usually reduced by 50% as assumed due to haploinsufficiency. 22q11.2DS is often an undiagnosed condition, as each patient may have a different set out of 180 possible clinical manifestations. Diverse dysmorphic traits are present in patients from different ethnicities, which makes diagnosis even more difficult. 22q11.2 deletion syndrome serves as an example of a genetic syndrome that is not easy to manage at all stages: diagnosis, consulting and dealing with.

Surgical Management of Patients With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (5) ◽  
pp. 857-869
Author(s):  
Oksana A. Jackson ◽  
Alison E. Kaye
Keyword(s):  
Surgical Management ◽  
Preoperative Evaluation ◽  
Preoperative Assessment ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Surgical Decision ◽  
Obstructive Sleep ◽  
Spine Abnormalities ◽  
Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (4) ◽  
pp. 633-640 ◽  
Author(s):  
Canice E. Crerand ◽  
Ari N. Rabkin
Keyword(s):  
Cognitive Abilities ◽  
Psychotic Disorders ◽  
Developmental Stages ◽  
Early Adulthood ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Psychosocial Risks ◽  
Empirically Supported ◽  
Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

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