Neuroimaging GABA Physiology in Fragile X Syndrome
Fragile X Syndrome (FXS), Idiopathic Intellectual Developmental Disorder (IDD)
About this trial
This is an interventional basic science trial for Fragile X Syndrome (FXS) focused on measuring FXS, Intellectual Disability
Eligibility Criteria
Inclusion Criteria for participants with FXS:
- Have an established diagnosis of FXS (full mutation with aberrant FMR1 methylation) by genetic testing
- Diagnosis of intellectual disability
- Males who are physically healthy
- Age 18 to 30 years inclusive
- IQ between 40 and 80 points
- Ability to remain seated for more than 10 minutes
- Ability to travel to Stanford
Exclusion criteria for participants with FXS:
- Diagnosis of a known genetic disorder (other than FXS).
- Active medical problems such as unstable seizures, congenital heart disease, endocrine disorders.
- Significant sensory impairments such as blindness or deafness.
- DSM-5 diagnosis of other severe psychiatric disorder such as bipolar disorder or schizophrenia.
- Pre-term birth (<34 weeks' gestation) or low birth weight (<2000g).
- Current use of benzodiazepines.
- Contraindication for PET or MRI.
Inclusion criteria for participants with IDD:
- Age 18 to 30 years inclusive
- Adults who are physically healthy
- No significant recent changes in psychosocial stressors per history
- Diagnosis of intellectual disability
- IQ between 40 and 80 points
- Ability to remain seated for more than 10 minutes
- Ability to travel to Stanford
Exclusion Criteria for participants with IDD:
- Genetic diagnosis of FXS.
- Active medical problems such as unstable seizures, congenital heart disease, endocrine disorders.
- Significant sensory impairments such as blindness or deafness.
- DSM-5 diagnosis of other severe psychiatric disorder such as bipolar disorder or schizophrenia.
- Pre-term birth (<34 weeks' gestation) or low birth weight (<2000g).
- Current use of benzodiazepines.
- Contraindication for PET or MRI.
Sites / Locations
- Stanford University
Arms of the Study
Arm 1
Arm 2
Experimental
Experimental
Fragile X Syndrome
Idiopathic Intellectual Developmental Disorder
Adult males aged 18-30 years diagnosed with FXS will undergo a non-invasive F18 FMZ PET/MRI scan to determine GABA(A) receptor density; developmental dynamics of GABA(A) receptor distribution, and structural neuroanatomy and connectional anatomy.
Adult males aged 18-30 years diagnosed with idiopathic intellectual developmental disorder will undergo a non-invasive F18 FMZ PET/MRI scan to determine GABA(A) receptor density; developmental dynamics of GABA(A) receptor distribution, and structural neuroanatomy and connectional anatomy.