Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome.

[22q11.2 deletion syndrome]

22 q 11 .2 deletion syndrome (22 q 11 .2 DS ) is associated with high rates of psychotic disorder , particularly schizophrenia . The deletion is considered to be a biological model for understanding this debilitating psychiatric disorder . It is unclear whether the psychotic manifestations in 22 q 11 .2 DS are similar to those in schizophrenia patients without the deletion . Catechol-O-methyltransferase (COMT ), a positional candidate gene for schizophrenia , resides within the 22 q 11 .2 region . It remains unknown whether hemizygosity for this gene is associated with risk of psychotic disorder . This study includes 83 adults with 22 q 11 .2 DS , 90 non-deleted individuals with schizophrenia , and 316 normal controls . Psychopathology was assessed using the Schedules for Clinical Assessment in Neuropsychiatry , the Schedules for the Assessment of Positive and Negative Symptoms and the Global Assessment Scale . Schizotypy was assessed with the Kings Schizotypy Questionnaire and Oxford Liverpool Inventory of Feelings and Emotions . IQ estimates were also obtained . Adults with 22 q 11 .2 DS were genotyped for a number of COMT polymorphisms as well as the Ashkenazi risk haplotype . This study confirms high rates of psychotic disorder (29 %) in individuals with 22 q 11 .2 DS of which the majority had schizophrenia (22 %). There does not appear to be a differential expression of schizophrenic symptom clusters in 22 q 11 .2 DS in relation to sporadic schizophrenia , though schizophrenia in 22 q 11 .2 DS seems to be less severe in terms of global assessment scores . Psychosis proneness seems to be of genetic origin in 22 q 11 .2 DS as individuals with 22 q 11 .2 DS without schizophrenia had higher schizotypy scores than normal controls . Finally , COMT was not associated with schizophrenia status or schizotypy .

Diseases
Validation

Diseases presenting "resides within the 22q11" symptom

22q11.2 deletion syndrome

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