Case 12 was a 24-year-old Caucasian male with premutation of 67 CGG repeats. His developmental milestones were partially delayed with sitting at 13½ months, crawling at 14 months, walking at 16 months, saying words at 1 year, and phrases at ~30 months. He had a history of ASD in addition to psychiatric diagnoses including bipolar disorder, Tourette syndrome or chronic tic disorder, and OCD. He had also had four psychiatric hospitalizations in 2004 and twice in 2006. His full scale IQ was of 110. At age 24 he developed significant catatonia and was treated with several sessions of electroconvulsive therapy (ECT) with a good response. He had not tolerated antipsychotic medication well and he was eventually treated with lithium and clonazepam.
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.