Abstract
Introduction: This study includes 28 patients with genetically proven 22q11.2 deletion syndrome
referred for treatment-resistant psychoses and aims at the identification of a suitable
pharmacological treatment strategy.
Methods: Based on standardized diagnostic procedures, key psychiatric symptoms and cognitive
status were assessed. Also, data about previous diagnostic vignettes as well as the
history of psychotropic medication and medical conditions were collected. Finally,
the effect of the subsequent treatment regimen was periodically re-assessed.
Results: Since psychotic symptoms had been shown to be non-responsive to conventional antipsychotics
including risperidone, treatment with either clozapine or quetiapine was started.
In 21 patients, a substantial reduction of psychotic symptoms was achieved with either
one, and in 3-quarters of this group remission was attained over a longer follow-up
period. In a significant number of patients, valproic acid was added either for mood
stabilizing purposes or to avoid epileptic side effects of clozapine.
Discussion: Treatment of psychotic symptoms in patients with 22q11DS with the atypical antipsychotic
quetiapine or clozapine in combination with the mood-stabilizing anticonvulsant valproic
acid, appears likely to be more effective than with other psychotropic compounds.
Key words
22q11.2 deletion syndrome - schizophrenia-like psychosis - atypical antipsychotic
- social cognition