Case 10 was a 19-year-old Caucasian male with a premutation of 170 CGG repeats. His behavior included hand flapping at times when he was excited and jumping up and down. When he was 6 years old, he showed excessive laughing, significant ADHD, and aggression. He had some paranoid thinking about people making fun of him or staring at him, which continued to impair his social behavior. He was given the Kiddie-SADS and he met criteria for ADHD and generalized anxiety disorder, as well as autism. He showed some OCD symptoms with a sexual fetish. He also met criteria for autism on the ADOS Module 4 on the current assessment. His full scale IQ of 54 fell in a mildly delayed range.
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.