Patient case (clinical description): A 15-year-old boy with mild intellectual disability is brought to the office by his parents for a routine physical examination.  The boy is going to a school for students with learning disabilities.  The patient was adopted, and his immunizations are up to date.  Review of the patient's medical records is notable for cytogenetic studies that showed a small gap near the tip of the long arm of the X chromosome, which is consistent with fragile X syndrome, an X-linked disorder. The defect is an unstable expansion of trinucleotide repeats (CGG) in the fragile X mental retardation 1 (FMR1) gene, located on the long arm of the X chromosome. He is not using any medications and vital signs are within normal levels. His blood chemistry analysis as bellow:
Blood Chemistry Value      Normal Range     Patient Value
Glucose                    90-120 mg/dl     95 mg/dl
BUN (Blood Urea Nitrogen)  7-24 mg/dl       10 mg/dl
Creatinine                 0.7-1.4 mg/dl    0.8 mg/dl
Calcium                    8.5-10.5 mg/dl   9 mg/dl
Sodium                     134-143 mEq/L    135 mEq/L
Potassium                  3.5-4.5 mEq/L    3.7 mEq/L
Chloride                   95-108 mEq/L     98 mEq/L
CO2                        20-30 mEq/L      25 mEq/L
Blood pH                   7.38-7.42        7. 39

Patient's own account: My husband and I brought our 15-year-old son to the clinic for his routine exam. My son is going to school for special needs students. We adopted him a few years ago. His vaccinations are up to date. He already passed some chromosome testing and they found that he has a fragile X syndrome. The doctor told us that it comes from repeats in the fragile X chromosome. My son is not using any medication and his blood pressure temperature and breathing were normal during the exam. He also did a blood test. The results came back and showed that his blood sugar urea creatinine calcium sodium potassium chloride CO2 and blood pH were all within the normal range.

Clinical trial: Diaphragmatic Breathing and Heart Rate Variability Training for Improving Hypertension in Fragile X Associated Tremor/Ataxia

Eligibility criteria:
Inclusion Criteria:

          1. Males and females between the ages of 50-90 with a molecular documentation of a
             fragile X premutation, diagnosed with FXTAS.

          2. stable current pharmacological treatment regimen for at least 4 weeks.

          3. English speaking (the intervention is currently only available in English)

          4. Clinically significant hypertension.

          5. Normal or corrected to normal vision and hearing.

        Exclusion Criteria:

          1. Significant medical and behavioral problems that would interfere with the study (e.g.
             not being able to sit and play a computer game for 10 minutes)

          2. Participants who plan to initiate or change pharmacologic or non-pharmacologic
             interventions during the course of the study

          3. Individual is non-verbal (has no spoken language)

          4. English is not the primary language.

          5. Clinically critical Hypertension that requires medical attention
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers
Subject must be at least 50 Years old.
Subject must be at most 90 Years

Eligibility (NLI label): Contradiction