scholarly journals O3.2. ROBOT-INDUCED MILD HALLUCINATIONS AND PASSIVITY EXPERIENCES IN INDIVIDUALS WITH THE 22Q11.2 DELETION SYNDROME

2020 ◽  
Vol 46 (Supplement_1) ◽  
pp. S6-S6
Author(s):  
Jevita Potheegadoo ◽  
Eva Blondiaux ◽  
Giedre Stripeikyte ◽  
Laurent Jenni ◽  
Fosco Bernasconi ◽  
...  

Abstract Background The 22q11.2 deletion syndrome (22q11DS) represents one of the highest genetic risk factors for developing schizophrenia. About 30% of individuals develop symptoms like hallucinations, thought disorders, passivity symptoms or loss of agency. These symptoms could be driven by abnormal sensorimotor predictions associated with the misattribution of self-related events to external sources (Frith, 2005). We developed a robotic device altering sensorimotor processing in healthy subjects and inducing mild to moderate hallucinations (presence hallucinations - PH) and passivity experiences (Blanke et al., 2014). Using this new device and procedure, we tested the sensitivity of individuals with 22q11DS to sensorimotor conflicts provided by the robot and their proneness in experiencing robot-induced PH and related passivity experiences as compared to healthy controls. Methods Thirty-eight individuals with 22q11DS and 21 controls moved, with the hand, a robotic device placed in front of them. A second robot placed behind them reproduced their movements, thus delivering tactile feedback on their back either synchronously (0ms between the movement and the touch, sync) or asynchronously (delay of 500ms, async) (Blanke et al., 2014). Participants rated the strength of robot-induced PH, passivity experiences that they felt during robot manipulation, and control items. Occurrence and severity of clinical symptoms were assessed. Results Subjective ratings following robot manipulation were analysed, and age was used as covariate. In the asynch condition, participants reported significantly stronger loss of agency over their hand movements and there was a trend towards a significant interaction between group and conditions for loss of agency with control subjects experiencing more loss of agency in the asynchronous condition than 22q11DS participants. A trend for significance was also observed whereby all subjects reported stronger PH in the asynchronous condition than in the synchronous condition. No significant group effect was observed for the subjective ratings associated with the robot manipulation. For the 22q11DS group, severity scores for items of unusual thought content/delusional ideas of the Structured Interview for Prodromal Syndromes positively and significantly correlated with ratings of robot-induced PH and loss of agency in the async condition. Passivity experiences during the async condition (i.e., the subjective impression that someone else was touching their back) significantly correlated with severity scores for perceptual abnormalities/hallucinations items. Discussion Experimental induction of sensorimotor conflicts caused mild altered mental states in individuals with 22q11DS as reported for controls. Both 22q11DS and control groups showed more sensitivity to the asynchronous condition during which they perceived loss of agency and passivity over their own actions, suggesting that the robotic stimulations disrupted self-other demarcation. In 22q11DS individuals, induced-PH, passivity experiences and loss of agency felt during the robot manipulation was associated to unusual thought content and abnormal perception. Taken together, our results suggest that 22q11DS is an interesting model to study the development of prodromal signs of psychosis at a very early stage before the onset of schizophrenia.

2017 ◽  
Vol 211 (4) ◽  
pp. 223-230 ◽  
Author(s):  
Samuel J. R. A. Chawner ◽  
Joanne L. Doherty ◽  
Hayley Moss ◽  
Maria Niarchou ◽  
James T. R. Walters ◽  
...  

Background22q11.2 deletion syndrome (22q11.2DS) is associated with a high risk of childhood as well as adult psychiatric disorders, in particular schizophrenia. Childhood cognitive deterioration in 22q11.2DS has previously been reported, but only in studies lacking a control sample.AimsTo compare cognitive trajectories in children with 22q11.2DS and unaffected control siblings.MethodA longitudinal study of neurocognitive functioning (IQ, executive function, processing speed and attention) was conducted in children with 22q11.2DS (n = 75, mean age time 1 (T1) 9.9, time 2 (T2) 12.5) and control siblings (n = 33, mean age T1 10.6, T2 134).ResultsChildren with 22q11.2DS exhibited deficits in all cognitive domains. However, mean scores did not indicate deterioration. When individual trajectories were examined, some participants showed significant decline over time, but the prevalence was similar for 22q11.2DS and control siblings. Findings are more likely to reflect normal developmental fluctuation than a 22q11.2DS-specific abnormality.ConclusionsChildhood cognitive deterioration is not associated with 22q11.2DS. Contrary to previous suggestions, we believe it is premature to recommend repeated monitoring of cognitive function to identifying individual children with 22q11.2DS at high risk of developing schizophrenia.


2019 ◽  
Vol 4 (5) ◽  
pp. 857-869
Author(s):  
Oksana A. Jackson ◽  
Alison E. Kaye

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.


2019 ◽  
Vol 4 (4) ◽  
pp. 633-640 ◽  
Author(s):  
Canice E. Crerand ◽  
Ari N. Rabkin

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.


Author(s):  
I.V. Novikova, O.M. Khurs, T.V. Demidovich et all

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.


2020 ◽  
Vol 74 (11) ◽  
pp. 626-627
Author(s):  
Hidetaka Tamune ◽  
Yousuke Kumakura ◽  
Ryo Morishima ◽  
Akiko Kanehara ◽  
Miho Tanaka ◽  
...  

2021 ◽  
pp. 1-5
Author(s):  
Bhanu Jayanand Sudhir ◽  
Sanjay Honavalli Murali ◽  
Jaypalsinh Gohil ◽  
Rajalakshmi Poyuran ◽  
Manikantan Sethuraman ◽  
...  

Noninfectious cerebral aneurysms are rare in patients with congenital cyanotic heart disease. We present a patient with DiGeorge/velocardiofacial syndrome with a complex congenital cyanotic heart disease with a ruptured anterior communicating artery aneurysm. The 10-year-old child was managed by surgical clipping of the aneurysm. Surgical challenges included prominent veins in the Sylvian fissure, difficulty in differentiating arterial and venous bleed, and anesthetic risks. The patient recovered without any neurological deficits. This is the first report of a patient with 22q11.2 deletion syndrome, with a noninfectious cerebral aneurysm.


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