Case 5 was a 58-year-old Caucasian male with an unmethylated full mutation. He had a long face with mildly prominent ears. He suffered from degenerative disc disease and chronic muscle pain and using an electric wheelchair. His full scale IQ of 84 fell within a low average range. On the SCID-I he met criteria for Bipolar I Disorder with a current episode of major depression. He met sub-threshold criteria for psychotic symptoms with hearing voices, and he did have some religious perseverations and grandiose thinking. He met criteria for panic disorder and generalized anxiety disorder. He had significant obsessive compulsive disorder (OCD) with sexual obsessions and frequent lock checking. On neurological examination he had an intention tremor, neuropathy symptoms, ataxia, while on physical examination he had macroorchidism (70 ml volume bilaterally) and a long face, which are features of the full mutation FXS. His MRI did not have the middle cerebellar peduncle sign but clinically, he appeared to have both FXS and FXTAS.
Case 4 was a 28-year-old Caucasian full mutation male with an almost complete lack of methylation. His developmental milestones were only slightly delayed. He is a high-functioning FXS male with great insight into emotions but he showed some Asperger Syndrome (DSM-IV) symptoms. On the Anxiety Disorders Interview Schedule interview, he met criteria for social phobia, and obsessive-compulsive disorder with overlapping psychotic-schizotypical (personality disorder) symptoms. His full scale IQ of 117 fell within the high average range.\nIn the SCID he reported frequent self-talk. He met clinical criteria for Social Phobia (with peers, strangers, in school). In the past he fulfilled criteria for depressive disorder (sub-threshold, only 2 main criteria out of 5 met). There was no evidence of mania current or past, but the he reported racing thoughts. Some symptoms point to prodromal features (peculiar behavior, impaired personal hygiene, inappropriate affect, and over-elaborate speech). In the past he met criteria for separation anxiety disorder (nightmares, physical symptoms, and excessive distress in anticipation of separations and separation, school reluctance, and fears of being alone at home) and Generalized Anxiety with strong self-consciousness.