ESCAP International Congress, Geneva 9-11 July 2017

Synapsy 22q11 Deletion Syndrome Symposia

Synapsy, Swiss National Centre of Competence in ResearchSymposia at the 2017 ESCAP Congress (Geneva) on 22q11 Deletion Syndrome, organized by the Swiss National Centre of Competence in Research – Synapsy.

Neuroimaging markers of psychosis in 22q11DS
Chair Marie Schaer - Co-chair Maria Carmela Padula.
Presentations by Maria Padula, Zora Kikinis, Daniela Zoller and Corrado Sandini.

  1. Maria Padula: Altered structural network architecture is predictive of the presence of psychotic symptoms in patients with 22q11.2 deletion syndrome.
  2. Zora Kikinis: Investigation of Heterogeneity in Cortical Microstructure in Individuals with 22q11 Deletion Syndrome: a Diffusion MRI study.
  3. Daniela Zoller: Multivariate BOLD signal variability alterations in psychosis in 22q11.2 deletion syndrome.
  4. Corrado Sandini: Alterations of structural covariance networks in 22q11DS in relation to psychotic symptoms, a cross-sectional and longitudinal investigation.

22q11.2 deletion syndrome: overview of the behavioral phenotype and available clinical interventions
Stephan Eliez, Maude Schneider, Marco Armando, Doron Gothelf.
22q11.2 deletion syndrome (22q11DS), also known as Velo-Cardio-Facial syndrome, is a common genetic disorder, occurring in at least 1:4000 live births. It is associated with a specific medical, cognitive, and clinical phenotype, although a high degree of heterogeneity is observed between patients. In particular, this condition is now recognized as one of the highest known risk factors for schizophrenia and is considered as a model for understanding the development of psychosis.
This symposium is aimed for clinicians or researchers who are not familiar with 22q11DS and who would like to improve their knowledge of this condition. The four speakers will perform a joint presentation covering recent findings regarding the following topics: 

  • frequent medical, cognitive, and clinical characteristics
  • assessment of attenuated symptoms of psychosis in 22q11DS
  • risk factors associated with transition to psychosis
  • marital and vocational outcome
  • pharmacological and psychosocial interventions

Social impairments across the psychosis continuum
Marco Armando, Maude Schneider, Ania Fiksinski, Carrie Bearden.
Social impairments are an important source of disability in patients affected with a psychotic disorder and are also present in patients at clinical high-risk for psychosis. Furthermore, it has been shown that social deficits represent a risk factor for the development of positive symptoms of psychosis.
In this symposium, we will cover the topic of social impairments in different populations across the psychosis continuum: patients with attenuated psychotic symptoms (APS), patients affected by the 22q11.2 deletion syndrome (22q11DS) – a genetic condition associated with increased risk for the development of psychosis – and patients with a first psychotic episode (FEP).
First, Dr. Armando will talk about metacognitive awareness in patients with APS or FEP, which represents an important function for navigating smoothly in the social world due to its links with self-regulation. Dr. Bearden will then present her work on social cognition in patients with 22q11DS and its relation to the emergence of psychotic symptoms. She will also discuss the specific brain alterations that are associated with social cognitive impairments in this population. Thirdly, Mrs. Fiksinski will explore the association between early social impairments (autism spectrum disorder symptoms) and the development of psychosis in a longitudinal study of patients with 22q11DS. Finally, Dr. Schneider will present a feasibility study as well as preliminary results about the effectiveness of an online social skills training intervention in adolescents and young adults with 22q11DS. 

Synapsy backgrounder (pdf, 1 page).

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