Case 7 was a 22-year-old Caucasian male with a full mutation with methylation mosaicism. At age 12 he showed intermittent psychotic symptoms with hearing voices in his head. At the last visit to our clinic at age 22, he had anger outbursts, attentional problems, and impulsivity and he also had a tendency to be a loner. He had some facilitated and repetitive speech, he might say “I hate you” or “I want to kill you,” which can be an automatic speech pattern typical of individuals with FXS. He showed several symptoms of an anxiety disorder and significant OCD with sexual obsessions. He had been treated with atypical antipsychotics including aripiprazole currently and risperidone in the past.
Case 14 was a 34-year-old male with a premutation of 88 CGG repeats. He had a history of ADHD and a traumatic brain injury from jumping off a bed at 5 years old. He continued to have problems in school related to impulsivity, mood lability, ADHD and learning problems. In adolescence and adulthood he developed substance abuse problems including alcohol and cocaine. He spent time in rehabilitation before being evaluated at age 34. On the SCID, he met criteria for Bipolar Disorder I with the most recent episode manic, a history of Substance Abuse, and acute stress disorder. His Verbal IQ was 112, Performance IQ was 98, and full scale IQ was 107. He suffered from intermittent intention tremor that began in his late 20 s and long-term history of balance problems. He showed some autistic features. His MRI showed some white matter disease in the insula but no middle cerebellar peduncle sign. Because of his tremor and ataxia he had a possible diagnosis of FXTAS. After evaluation he subsequently began using alcohol again in addition to cocaine and methamphetamine. He developed paranoid ideation toward his mother and his father and threatened to kill them. He was subsequently shot and killed when he attacked someone without provocation.