scholarly journals A pilot study on immuno-psychiatry in the 22q11.2 deletion syndrome: A role for Th17 cells in psychosis?

2018 ◽  
Vol 70 ◽  
pp. 88-95 ◽  
Author(s):  
Elfi Vergaelen ◽  
Carmen Schiweck ◽  
Kristof Van Steeland ◽  
Jacqueline Counotte ◽  
Wim Veling ◽  
...  
Keyword(s):  
Pilot Study ◽  
Th17 Cells ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Impact of Equine-Assisted Interventions on Heart Rate Variability in Two Participants with 22q11.2 Deletion Syndrome: A Pilot Study

Children ◽  
2021 ◽  
Vol 8 (11) ◽  
pp. 1073
Author(s):  
Maria Amado-Fuentes ◽  
Margarita Gozalo ◽  
Andres Garcia-Gomez ◽  
Sabina Barrios-Fernandez
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Pilot Study ◽  
Sample Size ◽  
Small Sample Size ◽  
22Q11.2 Deletion Syndrome ◽  
Small Sample ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Equine Assisted

People with disabilities due to genetic origin often present high levels of stress: non-pharmacological interventions such as Equine-Assisted Interventions (EAI) may be a useful strategy. The objective of this pilot study was to evaluate stress levels in two participants with 22q11.2 deletion syndrome diagnosis, immediately after carrying out the EAI. A single case experimental design methodology was chosen due to the small sample size. Two participants with 22q11.2 Deletion Syndrome, a rare disease, with different comorbidities were included. The present study considered the EAI as the independent variable while the Heart Rate Variability (HRV) represented the dependent one, as HRV is considered an indicator of stress level. Measurements were performed before and after carrying out the interventions. The results showed an HRV increase in one of the participants and an increase in the arousal level evidenced by a decrease in his HRV. After having carried out the program, EAI seems to cause an impact on the activation level of the participants depending on the typology and nature of the intervention. However, these results should be treated with caution due to the small sample size. This study is a pilot to test the feasibility of the proposed interventions on the variable under study.

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.

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