The role of autoantibodies in the neuropsychiatric manifestations of 22q11 deletion syndrome

TL;DR

This paper explores how autoantibodies might contribute to neuropsychiatric symptoms in individuals with 22q11 deletion syndrome.

Contribution

The paper proposes a novel hypothesis linking autoantibodies to neurobehavioral issues in 22q11DS.

Findings

Autoantibodies may play a role in the pathophysiology of psychosis and cognitive delays in 22q11DS.

Immune system alterations, including autoimmunity, are associated with neurodevelopmental difficulties in 22q11DS.

Further research is needed to understand how autoreactive antibodies interact with neurocircuitry function.

Abstract

The 22q11.2 deletion syndrome (22q11DS) is a genetic disorder characterized by defined microdeletions at chromosome 22q11.2. These genetic changes lead to a variety of neurodevelopmental problems, including cognitive delays and a very high rate of symptoms on the autism and schizophrenia spectrum. The underlying mechanisms contributing to these neurodevelopmental manifestations remain poorly understood. In concert with these neurodevelopmental difficulties there are also immune system alterations, including autoimmunity. We hypothesize that immune dysfunction, and the presence of circulating autoantibodies may play a role in the pathophysiology of these neuropsychiatric symptoms. In this review, we synthesize the diverse literature on autoantibodies in 22q11DS and propose mechanisms for a causative role of these autoantibodies in neurobehavioral problems such as psychosis and cognitive delays. This review highlights the importance of further research to explore the interaction between autoreactive antibodies and functional alterations in neurocircuitry function. Understanding this relationship may provide insight into the origins of psychiatric symptoms.

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