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: Randomized Controlled Study of Donepezil in Fragile X Syndrome

Eligibility criteria:
Inclusion Criteria:

          1. confirmed genetic diagnosis of fragile X syndrome

          2. age >=12, <=29

          3. Verbal IQ >= 50, <=75

          4. Tanner pubertal stage >= 3

        Exclusion Criteria:

          1. Current or lifetime DSM-IV diagnosis of bipolar disorder, schizophrenia,
             schizoaffective disorder, or psychotic disorder, NOS based upon reported history

          2. Poorly controlled seizure disorder or taking more than one anticonvulsant (subjects
             cannot be prescribed carbamazepine, phenytoin, or phenobarbital due to potential
             interaction effects with donepezil). The investigators will permit one anticonvulsant
             as monotherapy for seizures if the seizure disorder is well controlled with no
             evidence of break through seizures within the past year

          3. Concomitant or anticipated use of other medications having prominent effects on the
             cholinergic system (e.g., bethanechol, benztropine, atropine, succinylcholine)

          4. Medications or nutritional supplements that have the potential to significantly alter
             donepezil levels, clinical effects or adverse reactions (antifungal agents,
             corticosteroids, erythromycin, beta-blockers, calcium channel blockers, NSAIDs, gingko
             biloba, St. John's wort)

          5. Medical illnesses where donepezil could worsen the condition such as asthma, cardiac
             conduction abnormalities, urinary obstruction or gastrointestinal disease with gastric
             bleeding

          6. Pregnancy or sexually active females not using a reliable method of contraception

          7. If considering participation in brain MRI part of the study, then any
             contraindications for MRI (e.g., orthodontia, metal in or on the body, etc.)
No condition on gender to be admitted to the trial.
No healthy subjects accepted to join the trial.
Subject must be at least 12 Years old.
Subject must be at most 29 Years

Eligibility (NLI label): Entailment