Wednesday, March 12, 2014

Study Finds Chromosome 22q11.2 Deletion Associated With Psychotic, Other Psychiatric Disorders

A large international research project has validated previous findings that chromosome 22q11.2 deletion syndrome, a neurogenetic disorder characterized by deletion of a small part of chromosome 22, is associated with high rates of schizophrenia, attention-deficit/hyperactivity disorder (ADHD), and anxiety and unipolar mood disorders. The study, “Psychiatric Disorders From Childhood to Adulthood in 22q11.2 Deletion Syndrome: Results From the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome,” is published in AJP in Advance.

Researchers participating in the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome assessed 1,402 study subjects aged 6 to 68 who have been diagnosed with 22q11.2 deletion syndrome for psychiatric disorders with validated diagnostic instruments. They found that ADHD was the most frequent disorder in children (37.1%) and was overrepresented in males. Anxiety disorders were more prevalent than mood disorders at all ages, but especially in children and adolescents with the deletion disorder. Anxiety and unipolar mood disorders were overrepresented in females with the disorder. Psychotic disorders were present in 41 percent of adults over age 25.

“To the authors’ knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome,” the researchers stated. “It validates previous findings that this condition is one of the strongest risk factors for psychosis. Anxiety and developmental disorders were also prevalent. These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome.”

For more information about genetics and psychiatric illness, see the Psychiatric News column, "Change, Challenge, and Opportunity: Psychiatry Through the Looking Glass of Research." Read more on this topic in the book, Psychiatric Genetics: Applications in Clinical Practice, from American Psychiatric Publishing.

(Image: VladimirV/


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