scholarly journals The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome

2018 ◽  
Vol 176 (10) ◽  
pp. 2167-2171
Author(s):  
Katheryn Grand ◽  
Lorraine E. Levitt Katz ◽  
T. Blaine Crowley ◽  
Edward Moss ◽  
Megan Lessig ◽  
...  
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Full Scale ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
The Impact

Individuals With 22q11.2 Deletion Syndrome Are Impaired at Explicit, But Not Implicit, Discrimination of Local Forms Embedded in Global Structures

2014 ◽  
Vol 119 (3) ◽  
pp. 261-275 ◽  
Author(s):  
Anne Giersch ◽  
Bronwyn Glaser ◽  
Catherine Pasca ◽  
Mélanie Chabloz ◽  
Martin Debbané ◽  
...  
Keyword(s):  
Visual Information ◽  
Discrimination Task ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Local Processing ◽  
Visual Scanning ◽  
Form Discrimination ◽  
22Q11.2 Deletion ◽  
Visual Form ◽  
The Impact

Abstract Individuals with 22q11.2 deletion syndrome (22q11.2DS) are impaired at exploring visual information in space; however, not much is known about visual form discrimination in the syndrome. Thirty-five individuals with 22q11.2DS and 41 controls completed a form discrimination task with global forms made up of local elements. Affected individuals demonstrated clear impairment in detecting local, but not global, differences. Nevertheless, 22q11.2DS participants easily discriminated the same local elements when they were displayed in isolation, and further use of a prime demonstrated preserved facilitation of local processing in 22q11.2DS. These results did not differ by age or IQ. This study illustrates the impact of visuospatial impairments on form discrimination, and suggests how these difficulties may affect visual scanning in 22q11.2DS.

481: The impact of 22q11.2 Deletion Syndrome on neonatal outcomes

2018 ◽  
Vol 218 (1) ◽  
pp. S289
Author(s):  
Carmen M. Avram ◽  
Allison J. Allen ◽  
Brian L. Shaffer ◽  
Aaron B. Caughey
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Neonatal Outcomes ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
The Impact

Implications of COMT and Subclinical Psychiatric Symptoms on the Phenotypic Variability of 22q11.2 Deletion Syndrome: A Transversal and Longitudinal Approach

2017 ◽  
Vol 41 (S1) ◽  
pp. S82-S83
Author(s):  
S. Guerrera ◽  
M. Armando ◽  
M. Pontillo ◽  
F. Papaleo ◽  
S. Vicari
Keyword(s):  
Negative Symptoms ◽  
Psychiatric Symptoms ◽  
Phenotypic Variability ◽  
22Q11.2 Deletion Syndrome ◽  
Structured Interview ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Comt Polymorphism ◽  
The Impact

Introduction22q11.2 deletion syndrome (22q11.2DS) results from a hemizygous microdeletion on chromosome 22 and is characterized by phenotypic variability. Several studies have been conducted on the impact of COMT functional polymorphism in 22q11DS, suggesting that attenuated psychotic manifestations are frequent in children and adolescents and represent one of the strongest predictors for the onset of psychotic disorder.ObjectivesWe explored possible interaction between COMT polymorphism and subclinical psychiatric symptoms in a 22q11.2DS cohort of 42 participants aged 6 to 26 years: 17 hemizygosity for COMT-Met and 25 hemizygosity for COMT-Val.AimsTo analyse impact of COMT gene in 22q11DS and its related psychiatric correlates.MethodEach participant, genotyped for the catechol O-methyltransferase (COMT) Met/Val polymorphism, underwent structured psychiatric and cognitive assessment. Analysis of positive and negative symptoms was performed by the structured interview for prodromal syndromes (SIPS). Finally, longitudinal data available in a subsample of 24 individuals were used to explore the developmental trajectories of psychotic symptoms one year later.ResultsThere was a significant positive correlation between COMT Val polymorphism and positive symptoms; at follow-up, no significant correlation were found between COMT polymorphism and psychiatric symptoms. No other significant differences were found between groups (Comt/Met-Comt/Val) on any other CBCL or QI score.ConclusionsCOMT and additional genes microdeleted might interact in the susceptibility to schizophrenia in 22q11.2DS: psychotic symptoms might result from an epistatic interaction with other genes. Moreover, gene-environment, in presence of genetic vulnerability could increase the risk of schizophrenia in 22q11DS.Disclosure of interestThe authors have not supplied their declaration of competing interest.

scholarly journals The Impact of 22q11.2 Deletion Syndrome on Surgical Repair Outcomes of Conotruncal Cardiac Anomalies

2017 ◽  
Vol 104 (5) ◽  
pp. 1597-1604 ◽  
Author(s):  
Bahaaldin Alsoufi ◽  
Courtney McCracken ◽  
Subhadra Shashidharan ◽  
Shriprasad Deshpande ◽  
Kirk Kanter ◽  
...  
Keyword(s):  
Surgical Repair ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Cardiac Anomalies ◽  
The Impact

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.

Conotruncal heart defects and aortic arch anomalies in fetuses with 22q11.2 deletion syndrome

2020 ◽  
Author(s):  
I.V. Novikova, O.M. Khurs, T.V. Demidovich et all
Keyword(s):  
Aortic Arch ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Ventricular Outflow Tract ◽  
Double Outlet Right Ventricle ◽  
Interrupted Aortic Arch ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Aortic Arch Anomalies

16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6; 37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle (n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%) and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.

Sign in / Sign up

Export Citation Format

Share Document