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.
Case 7 was a 22-year-old Caucasian male with a full mutation with methylation mosaicism. At age 12 he showed intermittent psychotic symptoms with hearing voices in his head. At the last visit to our clinic at age 22, he had anger outbursts, attentional problems, and impulsivity and he also had a tendency to be a loner. He had some facilitated and repetitive speech, he might say “I hate you” or “I want to kill you,” which can be an automatic speech pattern typical of individuals with FXS. He showed several symptoms of an anxiety disorder and significant OCD with sexual obsessions. He had been treated with atypical antipsychotics including aripiprazole currently and risperidone in the past.