Case 8 was a 22-year-old Caucasian male with a low-level full mutation with methylation mosaicism that was 43% methylated. His developmental milestones were delayed with walking at ~19 months, saying words at 2½ years, but he did not speak in phrases until he was ~3½ years of age. He showed a lot of self-talk, perseverative speech, has difficulty in organizing his thinking, and can be quite tangential. His full scale IQ of 45 fell in a moderately delayed range. On the ADOS, he did not meet full clinical criteria for an ASD, but fell in the PDD-NOS category. On the ADIS he met clinical criteria for Social Phobia.
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.