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: Neuroimaging GABA Physiology in Fragile X Syndrome

Eligibility criteria:
Inclusion Criteria for participants with FXS:

          1. Have an established diagnosis of FXS (full mutation with aberrant FMR1 methylation) by
             genetic testing

          2. Diagnosis of intellectual disability

          3. Males who are physically healthy

          4. Age 18 to 30 years inclusive

          5. IQ between 40 and 80 points

          6. Ability to remain seated for more than 10 minutes

          7. Ability to travel to Stanford

        Exclusion criteria for participants with FXS:

          1. Diagnosis of a known genetic disorder (other than FXS).

          2. Active medical problems such as unstable seizures, congenital heart disease, endocrine
             disorders.

          3. Significant sensory impairments such as blindness or deafness.

          4. DSM-5 diagnosis of other severe psychiatric disorder such as bipolar disorder or
             schizophrenia.

          5. Pre-term birth (<34 weeks' gestation) or low birth weight (<2000g).

          6. Current use of benzodiazepines.

          7. Contraindication for PET or MRI.

        Inclusion criteria for participants with IDD:

          1. Age 18 to 30 years inclusive

          2. Adults who are physically healthy

          3. No significant recent changes in psychosocial stressors per history

          4. Diagnosis of intellectual disability

          5. IQ between 40 and 80 points

          6. Ability to remain seated for more than 10 minutes

          7. Ability to travel to Stanford

        Exclusion Criteria for participants with IDD:

          1. Genetic diagnosis of FXS.

          2. Active medical problems such as unstable seizures, congenital heart disease, endocrine
             disorders.

          3. Significant sensory impairments such as blindness or deafness.

          4. DSM-5 diagnosis of other severe psychiatric disorder such as bipolar disorder or
             schizophrenia.

          5. Pre-term birth (<34 weeks' gestation) or low birth weight (<2000g).

          6. Current use of benzodiazepines.

          7. Contraindication for PET or MRI.
Male
No healthy subjects accepted to join the trial.
Subject must be at least 18 Years old.
Subject must be at most 30 Years

Eligibility (NLI label): Contradiction