Case 13 was a 27-year-old Caucasian male with FXS mosaicism with 40% of his cells carrying the premutation of 104 CGG repeats, and the rest with a full mutation with partial methylation. His IQ at age 25 on the Stanford Binet showed a verbal IQ of 63, nonverbal of 60, and full scale IQ of 60. In his childhood he was anxious and socially awkward and he did well with atypical antipsychotics including aripiprazole and risperidone in addition to sertraline and topiramate. At age 24 he developed an oral motor dystonia with spasms of his tongue which made his speech unintelligible. He also developed a neck twisting movement. His risperidone was tapered without improvement of his symptoms and he was treated with a variety of medications including carbidopa/levodopa, and lamotrigine without effect, but he later improved with clonazepam and guanfacine.
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.