scholarly journals Childhood cognitive development in 22q11.2 deletion syndrome: Case–control study

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.

2018 ◽  
Vol 272 ◽  
pp. 65-70 ◽  
Author(s):  
Claudia Vingerhoets ◽  
Oswald J.N. Bloemen ◽  
Erik Boot ◽  
Geor Bakker ◽  
Mariken B. de Koning ◽  
...  

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.


2016 ◽  
Vol 15 (3) ◽  
pp. 259-265 ◽  
Author(s):  
Maude Schneider ◽  
Marco Armando ◽  
Maria Pontillo ◽  
Stefano Vicari ◽  
Martin Debbané ◽  
...  

2017 ◽  
Vol 41 (S1) ◽  
pp. S81-S82
Author(s):  
M. Armando ◽  
M. Schneider ◽  
M. Pontillo ◽  
S. Vicari ◽  
M. Debbane ◽  
...  

The 22q11.2 deletion syndrome (22q11DS) is characterized by high rates of psychotic symptoms and schizophrenia, making this condition a promising human model for studying risk factors for psychosis. We explored the predictive value of ultra high-risk (UHR) criteria in a sample of patients with 22q11DS. We also examined the additional contribution of sociodemographic, clinical and cognitive variables to predict transition to psychosis within a mean interval of 32.56176 months after initial assessment. Eighty-nine participants with 22q11DS (age range: 8–30 years; mean: 16.1647) were assessed using the structured interview for psychosis-risk syndromes. Information on axis I diagnoses, internalizing and externalizing symptoms, level of functioning and IQ was also collected. At baseline, 22 (24.7%) participants met UHR criteria. Compared to those without a UHR condition, they had a significantly lower functioning, more frequent anxiety disorders and more severe psychopathology. Transition rate to psychosis was 27.3% in UHR and 4.5% in non-UHR participants. Cox regression analyses revealed that UHR status significantly predicted conversion to psychosis. Baseline level of functioning was the only other additional predictor. This is the first study investigating the predictive value of UHR criteria in 22q11DS. It indicates that the clinical path leading to psychosis is broadly comparable to that observed in other clinical high-risk samples. Nevertheless, the relatively high transition rate in non-UHR individuals suggests that other risk markers should be explored in this population. The role of low functioning as a predictor of transition to psychosis should also be investigated more in depth.Disclosure of interestThe authors have not supplied their declaration of competing interest.


PLoS ONE ◽  
2016 ◽  
Vol 11 (11) ◽  
pp. e0159928 ◽  
Author(s):  
Geor Bakker ◽  
Matthan W. A. Caan ◽  
Wilhelmina A. M. Vingerhoets ◽  
Fabiana da Silva- Alves ◽  
Mariken de Koning ◽  
...  

2007 ◽  
Vol 143A (6) ◽  
pp. 574-580 ◽  
Author(s):  
P.W. Jansen ◽  
S.N. Duijff ◽  
F.A. Beemer ◽  
J.A.S. Vorstman ◽  
P.W.J. Klaassen ◽  
...  

Author(s):  
Sebastiano Failla ◽  
Peng You ◽  
Chandheeb Rajakumar ◽  
Anne Dworschak-Stokan ◽  
Philip C. Doyle ◽  
...  

2008 ◽  
Vol 102 (1-3) ◽  
pp. 17
Author(s):  
Martin Debbane ◽  
Martial Van der Linden ◽  
Marie Schaer ◽  
Bronwyn Glaser ◽  
Stephan Eliez

2017 ◽  
Vol 174 (3) ◽  
pp. 295-314 ◽  
Author(s):  
Carlie A. Thompson ◽  
Jason Karelis ◽  
Frank A. Middleton ◽  
Karen Gentile ◽  
Ioana L. Coman ◽  
...  

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