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. Author manuscript; available in PMC: 2010 Dec 1.
Published in final edited form as: J Dev Behav Pediatr. 2009 Dec;30(6):544. doi: 10.1097/DBP.0b013e3181c35f25

Table 1.

A summary of clinical data of other family members

Characteristic Grandfather’s brother (A) Grandfather (B) Mother (C) Aunt (D) Aunt (E) Brother (F) Cousin (G)
Age (years) 57 62 39 37 34 11 9 years 7 months
Number of CGG repeats 52 CGG repeats 52, 68 CGG repeats (mosaic premutation) 54 CGG repeats 56 CGG repeats 67 CGG repeats 69 CGG repeats 69 CGG repeats
mRNA level 1.83 ± 0.081 2.62 ± 0.34 1.9 ± 0.63 1.88 ± 0.30 1.95 ± 0.04 1.51± 0.43 1.91 ± 0.43
Activation Ratio (AR2) - - 0.54 - 0.55 - -
Clinical presentation/ involvement

  • Type 2 diabetes at 37 years, hypertension at 53 years, hypercholesterolemia, migraine headache and hearing loss

  • occasional numbness of both hands and feet

  • subclinical tremor and balance problems

  • head/ hand tremors at 42/ 49 years, worsened significantly after age 59, no interference with daily activities

  • word retrieval difficulties at 60 years

  • bilateral high frequency hearing loss in 30s, prostate enlargement at 48 years, sleep apnea required CPAP at 53 years, occasional hypoglycemic episodes at 55 years, hypertension and heart attack at 59 years

  • anxiety on a daily basis since childhood, moodiness started in 20s

  • 2 benign thyroid tumors at 35 years

  • hysterectomy at 37 years after dysfunctional uterine bleeding

  • long term history of depression, mood swings, anxiety, sleep problems

  • depression, anxiety

  • breast cancer, thyroid tumor, uterine tumors and had hysterectomy

  • mitral valve prolapse

  • depression, anxiety on a daily basis, sleep disturbances, panic attacks

  • hypertension, Raynaud’s phenomenon

  • mathematics difficulties, needed to attend remedial class in an elementary school

  • ASD documented by Autism Diagnostic Observation Schedule (ADOS) and by DSM-IV criteria, ADHD, overanxious disorder with obsessive features, panic attacks

  • biting her arms when upset, tactile defensiveness, sensory integration problems

  • overanxious disorder, ADHD, shyness, obsessive compulsive rituals
Physical examination

  • BP 132/82 mmHg

  • long face, ear cupping, high arched palate, prominent jaw

  • intentional and postural tremor bilaterally in the hands

  • mild instability when tandem walked

  • absent biceps, triceps and ankle reflexes bilaterally

  • diminished vibration and pinprick sense on both toes

  • BP 141/89 mmHg

  • head tremor subtle intention tremor bilaterally in the hands

  • normal Tandem gait

  • diminished vibration sense both toes

 Unremarkable Not examined

  • hypertension (BP 128/90 mmHg)

  • BP 122/ 68 mmHg

  • head circumference 52 cm. at 5 years and 8 months of age (60th Percentile)

  • limited eye contact, high arched palate, slight pectus excavatum, flat feet bilaterally

  • BP 118/77 mmHg

  • small ear pinna without cupping, slightly high arched palate

  • anxiety
Psychological testing/ other tests

  • WAIS-III3: VIQ 101, PIQ 91, FSIQ 97

  • Working Memory Index 102, Processing Speed Index 81

  • WAIS-III: VIQ 127, PIQ 124, FSIQ 128

  • Working Memory Index 117, Processing Speed Index 108

  • MRI of the brain: normal

  • WAIS-III: VIQ 116, PIQ 116, FIQ 117

  • SCL-90-R4: DEP 64, HOS 72, O-C 61, PSY 63, GSI 62

 Not tested Not tested

  • WPPSI5: VIQ 90, PIQ 88, FSIQ 90

  • WASI6: VIQ 108, PIQ 96, FSIQ 102

  • VABS7: C 108, DLS 101, S 94, M 100, ABC 101
Management enalapril 0.5 mg, lipitor 20 mg/ day and insulin metoprolol 50 mg, dutasteride 0.5 mg and fenofibrate 145 mg/ day sertraline 75 mg/ day escitalopram20 mg/ day sertraline 50 mg/ day sertraline 37.5 mg/ day, individualized educational program recommend start sertraline 12.5 mg and methylphenidate extended release 18 mg/ day, work with the therapist
1

Mean ± SD. of the mRNA level and every sample was normalized to a normal control which is 1.26 ± 0.23

2

AR: fraction of normal FMR1 allele as the active allele,

3

WAIS-III: The Wechsler Adult Intelligence Scale-Third Edition, VIQ: Verbal IQ, PIQ: Performance IQ, FSIQ: Full Scale IQ

4

SCL-90-R: Symptom Checklist-90-Revised demonstrated a clinically significant level (>63) of depression (DEP) and irritability (HOS) and almost a clinically significant level of obsessive compulsive problems (O-C), psychological difficulties (PSY) and Global Severity Index (GSI).

5

WPPSI: Wechsler Preschool and Primary Scale of Intelligence,

6

WASI: Wechsler Abbreviated Scale of Intelligence

7

VABS: The Vineland Adaptive Behavior Scales, C: Communication, DLS: Daily Living Skills, S: Socialization, M: Motor and ABC: Adaptive Behavioral Composite