P.3.b.026 Differences in cortical morphology between 22q11.2 deletion syndrome patients and patients at ultra-high risk for psychotic disorders

2015 ◽  
Vol 25 ◽  
pp. S478
Author(s):  
G. Bakker ◽  
M.W.A. Caan ◽  
W.A.M. Vingerhoets ◽  
F. Da Silva-Alves ◽  
M. De Koning ◽  
...  
Keyword(s):  
High Risk ◽  
Psychotic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Ultra High Risk ◽  
Cortical Morphology

scholarly journals Cortical Morphology Differences in Subjects at Increased Vulnerability for Developing a Psychotic Disorder: A Comparison between Subjects with Ultra-High Risk and 22q11.2 Deletion Syndrome

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 ◽  
...  
Keyword(s):  
High Risk ◽  
Psychotic Disorder ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Ultra High Risk ◽  
Cortical Morphology

Cortical morphology development in patients with 22q11.2 deletion syndrome at ultra-high risk of psychosis

2018 ◽  
Vol 48 (14) ◽  
pp. 2375-2383 ◽  
Author(s):  
Maria Carmela Padula ◽  
Marie Schaer ◽  
Marco Armando ◽  
Corrado Sandini ◽  
Daniela Zöller ◽  
...  
Keyword(s):  
High Risk ◽  
Surface Area ◽  
Cortical Thickness ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Global Functioning ◽  
22Q11.2 Deletion ◽  
Cortical Volume ◽  
Ultra High Risk ◽  
Cortical Morphology

AbstractBackgroundPatients with 22q11.2 deletion syndrome (22q11DS) present a high risk of developing psychosis. While clinical and cognitive predictors for the conversion towards a full-blown psychotic disorder are well defined and largely used in practice, neural biomarkers do not yet exist. However, a number of investigations indicated an association between abnormalities in cortical morphology and higher symptoms severities in patients with 22q11DS. Nevertheless, few studies included homogeneous groups of patients differing in their psychotic symptoms profile.MethodsIn this study, we included 22 patients meeting the criteria for an ultra-high-risk (UHR) psychotic state and 22 age-, gender- and IQ-matched non-UHR patients. Measures of cortical morphology, including cortical thickness, volume, surface area and gyrification, were compared between the two groups using mass-univariate and multivariate comparisons. Furthermore, the development of these measures was tested in the two groups using a mixed-model approach.ResultsOur results showed differences in cortical volume and surface area in UHR patients compared with non-UHR. In particular, we found a positive association between surface area and the rate of change of global functioning, suggesting that higher surface area is predictive of improved functioning with age. We also observed accelerated cortical thinning during adolescence in UHR patients with 22q11DS.ConclusionsThese results, although preliminary, suggest that alterations in cortical volume and surface area as well as altered development of cortical thickness may be associated to a greater probability to develop psychosis in 22q11DS.

Dopamine in high-risk populations: A comparison of subjects with 22q11.2 deletion syndrome and subjects at ultra high-risk for psychosis

2018 ◽  
Vol 272 ◽  
pp. 65-70 ◽  
Author(s):  
Claudia Vingerhoets ◽  
Oswald J.N. Bloemen ◽  
Erik Boot ◽  
Geor Bakker ◽  
Mariken B. de Koning ◽  
...  
Keyword(s):  
High Risk ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Ultra High Risk ◽  
High Risk Populations

scholarly journals Ultra high risk status and transition to psychosis in 22q11.2 deletion syndrome

2016 ◽  
Vol 15 (3) ◽  
pp. 259-265 ◽  
Author(s):  
Maude Schneider ◽  
Marco Armando ◽  
Maria Pontillo ◽  
Stefano Vicari ◽  
Martin Debbané ◽  
...  
Keyword(s):  
High Risk ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Risk Status ◽  
Ultra High Risk

scholarly journals Ultra High Risk Status and Transition to Psychosis in 22q11.2 Deletion Syndrome

2017 ◽  
Vol 41 (S1) ◽  
pp. S81-S82
Author(s):  
M. Armando ◽  
M. Schneider ◽  
M. Pontillo ◽  
S. Vicari ◽  
M. Debbane ◽  
...  
Keyword(s):  
High Risk ◽  
Predictive Value ◽  
Transition Rate ◽  
22Q11.2 Deletion Syndrome ◽  
Human Model ◽  
Deletion Syndrome ◽  
Additional Contribution ◽  
22Q11.2 Deletion ◽  
Level Of Functioning ◽  
Ultra High Risk

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.

ADOLESCENTS WITH 22q11.2 DELETION SYNDROME: A POPULATION ULTRA HIGH-RISK FOR SCHIZOPHRENIA

2008 ◽  
Vol 102 (1-3) ◽  
pp. 17
Author(s):  
Martin Debbane ◽  
Martial Van der Linden ◽  
Marie Schaer ◽  
Bronwyn Glaser ◽  
Stephan Eliez
Keyword(s):  
High Risk ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Ultra High Risk

Associations between neurodevelopmental genes, neuroanatomy, and ultra high risk symptoms of psychosis in 22q11.2 deletion syndrome

2017 ◽  
Vol 174 (3) ◽  
pp. 295-314 ◽  
Author(s):  
Carlie A. Thompson ◽  
Jason Karelis ◽  
Frank A. Middleton ◽  
Karen Gentile ◽  
Ioana L. Coman ◽  
...  
Keyword(s):  
High Risk ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Ultra High Risk

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.

Risk Factors for the Emergence of Psychotic Disorders in Adolescents With 22q11.2 Deletion Syndrome

2007 ◽  
Vol 164 (4) ◽  
pp. 663-669 ◽  
Author(s):  
Doron Gothelf ◽  
Carl Feinstein ◽  
Tracy Thompson ◽  
Eugene Gu ◽  
Lauren Penniman ◽  
...  
Keyword(s):  
Risk Factors ◽  
Psychotic Disorders ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

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.

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