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 6 was a 25-year-old Caucasian male with the full mutation. His developmental milestones were delayed with sitting at 7 months, crawling at 8 months, walking at 1 year, but at 2 years he was only saying single words and he did not speak in sentences until about 4 years of age. His behavior included hand flapping, poor eye contact, tactile defensiveness, hyperactivity, perseveration, tantrum behavior about three to four times a week, mainly with verbal outbursts, yelling and irritability at least once a day. His full scale IQ of 61 fell in a mildly delayed range. On the ADOS Module 4 he met ASD criteria. On the ADIS, he met criteria for social phobia, specific phobia, and generalized anxiety. He also showed some psychotic features with hearing voices, and laughs to himself frequently.