Case 6 was a 25-year-old Caucasian male with the full mutation. His developmental milestones were delayed with sitting at 7 months, crawling at 8 months, walking at 1 year, but at 2 years he was only saying single words and he did not speak in sentences until about 4 years of age. His behavior included hand flapping, poor eye contact, tactile defensiveness, hyperactivity, perseveration, tantrum behavior about three to four times a week, mainly with verbal outbursts, yelling and irritability at least once a day. His full scale IQ of 61 fell in a mildly delayed range. On the ADOS Module 4 he met ASD criteria. On the ADIS, he met criteria for social phobia, specific phobia, and generalized anxiety. He also showed some psychotic features with hearing voices, and laughs to himself frequently.
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.