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

Maude Schneider, Marco Armando, Maria Pontillo, Stefano Vicari, Martin Debbané, Frauke Schultze-Lutter, Stephan Eliez

Risultato della ricerca: Contributo in rivistaArticolo in rivista

33 Citazioni (Scopus)


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 socio-demographic, clinical and cognitive variables to predict transition to psychosis within a mean interval of 32.5 ± 17.6 months after initial assessment. Eighty-nine participants with 22q11DS (age range: 8-30 years; mean 16.1 ± 4.7) 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.
Lingua originaleEnglish
pagine (da-a)259-265
Numero di pagine7
RivistaWorld Psychiatry
Stato di pubblicazionePubblicato - 2016


  • 22q11.2 deletion syndrome
  • clinical high risk state
  • level of functioning
  • schizophrenia
  • transition to psychosis
  • ultra high risk criteria


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