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: Teaching Math Skills to Individuals With Fragile X Syndrome

Eligibility criteria:
Inclusion Criteria:

          -  (a) 10 to 23 years of age (this age range was chosen to maximize the probability that
             subjects will cooperate with the imaging procedures as well as benefit from the
             interventions),

          -  (b) in good physical health,

          -  (c) able to participate in the imaging component of the project,

          -  (d) IQ between 50 and 80. We have found that individuals with IQ's less than 50 points
             are generally unable to comply with the scanning procedures.

          -  (e) diagnosis of FXS (for FXS group) and non-specific developmental disorder (for
             control group).

        Exclusion Criteria:

        Exclusion criteria include

          -  contraindications for MRI (e.g., pacemaker, braces),

          -  the presence of neurological or sensory problems not associated with the conditions of
             interest (e.g., head trauma, blindness), or inability to discontinue psychotropic
             medication for 4 weeks prior to the scan.

          -  Additional exclusion criteria for the control group include the presence of any known
             identifiable syndrome (e.g., fragile X syndrome, Down syndrome, Prader-Willi syndrome,
             Turner syndrome, PKU, fetal alcohol syndrome, Williams syndrome).
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 10 Years old.
Subject must be at most 23 Years

Eligibility (NLI label): Entailment