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: Families of Youth With Developmental Disabilities: A Theory-Based Intervention

Eligibility criteria:
Inclusion Criteria:

          -  Participants in all conditions will include mothers, fathers, TD siblings between 11
             and 17 years old, and individuals with IDD of any age.

          -  Participants must be able to understand and respond to survey questions in English

          -  Parents must be cohabitating, with both participating children living in their home.

          -  Individual with IDD falls into one or more of the following categories: 1) meets
             criteria for an intellectual disability, which would mean a measured IQ of 70-75 or
             lower and a measured Adaptive Functioning score of 70-75 or lower, 2) meets criteria
             for an Autism Spectrum Disorder based on an evaluation using the ADOS-2, SCQ, and
             expert clinical judgment based on DSM-5 ASD criteria, or 3) has a medically verified
             genetic condition (e.g., Down syndrome, Fragile X syndrome, Williams syndrome,
             Angelman syndrome, others) that is generally considered to be a developmental
             disability, and shows cognitive or adaptive functioning deficits (70-75 or below)
             although not necessarily deficits in both categories as would be needed for an
             Intellectual Disability diagnosis.

        Exclusion Criteria:

          -  Siblings identified as typically developing will be excluded 1) with a score of 10 or
             higher on the SCQ-L, if a subsequent ADOS suggests that they have an ASD diagnosis, or
             2) with a WASI-II score of 75 or lower.
No condition on gender to be admitted to the trial.
Accepts Healthy Volunteers



Eligibility (NLI label): Entailment