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.
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.