22Q11.2 deletion syndrome and psychosis: About a case

Abstract

Introduction We present the case of a boy born in 2002 who was diagnosed with 22q11.2 DS at the age of 2 years. He was referred to neurology at age 9 for “attention deficits and irritability.” At age 12 he was referred to mental health for “irritability and anxious and depressive symptoms.” The boy was erroneously discharged with a diagnosis of “only” emotional disorder without subsequent follow-up. The evolution of this case resembles the evolution of others already described in the literature. Objectives To demonstrate the lack of knowledge of the variety of comorbid disorders in this syndrome (20 to 40% present psychotic symptoms). Methods Bibliographic search in the Pubmed database. Results There is a partial T-cell immunodeficiency in 22q11.2DS patients confirmed by significantly reduced percentages of circulating T and helper T cells. An increased percentage of Th17 was found in adults with psychotic symptoms compared to non-psychotic adults in one article. The percentage of Th17 was related to the presence of positive psychotic symptoms. Another study says higher levels of IL-17 were found in patients with fewer symptoms. The importance of Th17 and IL-17 in the development of the hippocampus and of Th17 in the development of psychosis is highlighted. In those patients, there is a high IL-6 / IL-10 ratio in favor of a pro-inflammatory state. High levels of IL-6 are correlated with greater neurocognitive deficits and negative symptoms. Conclusions 1. There is evidence for a theory of inflammation in psychosis development. 2. The 22q11.2 DS could be used as a research model. Disclosure No significant relationships.

Keywords

• immunodeficiency
• psychosis
• neurodevelopment