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: Treatment of Disruptive Behaviors in Fragile X Syndrome

Eligibility criteria:
Inclusion Criteria:

          1. Child has a confirmed diagnosis of FXS (>200 CGG repeats on the FMR1 gene with
             evidence of aberrant methylation)

          2. Child is male, between the ages of 3-10 years old

          3. Child is reported to show self-injury, property destruction and/or aggression on at
             least a daily basis

          4. The caregiver agrees to keep any therapies that the child receives (i.e., medications
             or other treatments) as stable as possible throughout involvement in the study

          5. The family has a high-speed internet connection at home or lives in an area with 4G
             network coverage

          6. Availability for one-hour daily telemedicine treatment sessions

          7. Availability for in-home assessment totaling 8 hours across two consecutive days

        Exclusion Criteria:

          1. The child or caregiver has significant sensory impairments (e.g., blindness or
             deafness)

          2. Non-English speaking

          3. The child receives Applied Behavior Analysis services in excess of five hours per week

          4. The child has a significant neurological condition (e.g., frequent seizures, brain
             injury, Tourette's syndrome) that would preclude participation

          5. The child or caregiver has significant mobility issues

          6. The child is currently participating in another research study that would preclude
             participation in the study
Male
No healthy subjects accepted to join the trial.
Subject must be at least 3 Years old.
Subject must be at most 10 Years

Eligibility (NLI label): Contradiction