Case 11 was a 57-year-old Caucasian male with a premutation of 133 CGG repeats. He had a history of ADHD and being socially awkward in childhood which led to a diagnosis of Asperger’s syndrome. At age 46 he began to experience cognitive decline leading to job loss, then an intention tremor began at age 47 and ataxia at age 50. He also had high blood pressure, moodiness, irritability and seizures treated with Keppra. On physical examination he had a somewhat long face, high-arched palate and prominent ear pinna with ear cupping bilaterally. On finger-to-nose touching he had a significant intention tremor, in addition to a postural tremor and ataxia with an inability to tandem walk. His MRI was consistent with 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.