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 3 was a 36-year-old Caucasian male with a full mutation with methylation mosaicism. He was adopted at birth, and his birth mother had a history of drugs and alcohol. He reached his developmental milestones delayed (walking at 15 months, speaking single words at 18 months, phrase speech at age 5½ years). Upon medical examination, he demonstrated a long, somewhat narrow face. His palate was high-arched. His ears pinnae were not prominent but they were long measuring 7 cm in length. He was diagnosed with atypical autism at 5-years of age and had a history of ADHD problems. At the time of puberty he became more aggressive and his anxiety increased. According to the caregiver, he had two psychotic breaks at age 29 and 31 and was subsequently diagnosed with schizophrenia. He had been treated with aripiprazole and clonidine.