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 10 was a 19-year-old Caucasian male with a premutation of 170 CGG repeats. His behavior included hand flapping at times when he was excited and jumping up and down. When he was 6 years old, he showed excessive laughing, significant ADHD, and aggression. He had some paranoid thinking about people making fun of him or staring at him, which continued to impair his social behavior. He was given the Kiddie-SADS and he met criteria for ADHD and generalized anxiety disorder, as well as autism. He showed some OCD symptoms with a sexual fetish. He also met criteria for autism on the ADOS Module 4 on the current assessment. His full scale IQ of 54 fell in a mildly delayed range.