DSM-IV clinical diagnoses were obtained through a standard consensus diagnosis process based on information from the Diagnostic Interview for Genetics Studies (DIGS, version 2.0) administered to each participant, the Family Interview for Genetics Studies (FIGS), and a review of any available medical records. Each case was reviewed by two investigators who were blind to the family relationships among the participants to arrive at lifetime best estimate final diagnoses for the participant. Best estimate diagnoses for cases with psychotic features and disagreement between the two raters were discussed in diagnostic meetings at each site and particularly difficult cases were discussed between the investigators at the two ascertainment sites. Inter-rater reliability within and across sites was evaluated using videotaped interviews to maintain a Kappa > 0.8.
There were 106 individuals in these families with schizophrenia or schizoaffective disorder, depressed type. Most families had two affected individuals, due to the ascertainment on an affected relative pair. However, nine families had three affected individuals; two families had four affected individuals; and three families had five affected individuals. Additionally, 22 individuals in these families had cluster A diagnoses, 4 were schizoaffective-bipolar, 2 had delusional disorder, and 1 person was diagnosed with brief psychotic disorder.
Of the individuals with schizophrenia or schizoaffective disorder, depressed type, 75% were receiving treatment at the time of assessment, some of them with multiple medications. These treatments included first generation (typical) antipsychotics (33%), second generation antipsychotics (48%), mood stabilizers (15%), and benzodiazepine (10%). Among the 25% of affected individuals not being treated at the time of assessment, approximately one third had never been medicated, one third had been off treatment for six months or more, and one third had discontinued treatment within the last six months. Effects of medications on the neurocognitive measures have been examined extensively in previous studies and were found to be negligible or subtle (14 (link)-17 (link)). Therefore, medication status was not considered in the present analyses.