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.
Case 2 was a 53-year-old Caucasian male who had unmethylated alleles spanning from 180 to 690 CGG repeats. He had ADHD symptoms and significant impulsivity in childhood and after graduation from high school he began work as a carpenter. He developed severe hypertension at age 30 requiring antihypertensive medication. He developed an intermittent hand tremor that was noticeable when using tools or a pencil at age 49. He subsequently developed a tremor in his leg that feels as if a cell phone was vibrating in his pocket when there was none there. He experiences light-headedness and sometimes dizzy spells. On several occasions bright lights had flashed across his visual field although he did not have a history of migraines.\nOn his medical examination he had absent reflexes in all four extremities, a positive snout reflex, but no tremor nor ataxia were observed. The SCID revealed a diagnosis of Bipolar Disorder not otherwise specified (NOS) with the most current episode depressed, a history of heavy substance abuse (methamphetamine, alcohol, and stimulants), specific phobia, and a self-reported previous diagnosis ADHD with impulsivity. His MRI did not demonstrate the middle cerebellar peduncle sign which would be typical of FXTAS criteria.