Mechanisms and circuits of Fragile X Syndrome deficits in cognition, motor abilities and sensory processing

Study ID
STU 052013-043

Cancer Related

Healthy Volunteers

Study Sites

Mark Bushong

Principal Investigator
Matthew Byerly


eligible participants will participate in neuropsychological, sensorimotor, eeG, MRi and Dna testing. These assessments will occur over several days/visits. The study design is a cross-sectional genotype-phenotype association study comparing individuals with FXS, their relatives who are premutation carriers, premutation carriers without identifiable Fragile X Syndrome relatives, and healthy controls. no treatment is involved in this study. outcome variables will include medical and clinical measures, intelligence quotient (iQ) scores, sensorimotor behaviors, responses to neuropsychological tests. Manual motor measures focus on force generation and stability, eye movement measures focus on saccade accuracy and latency, and cognitive measures for correlational purposes provide standard performance parameters on the selected tests. fMRi and eeG studies will focus on sensory and motor systems and assess primary sensory and motor cortical activity and interactions with prefrontal cortical systems involved in top-down control. We estimate that we will enroll a total of 191 children and 404 adults.

Participant Eligibility

Proband Subjects must 1) have full FMR1 mutations (>200 CGG repeats) confirmed by genetic testing and 2) have a chronological age of 5 - 55.

Relative Subjects must be 1) confirmed by genetic analysis to be premutation carrier (55-200 CGG repeats), and 2) age 5 x 80.

Healthy Control Subjects must 1) be 5 - 80 years of age and 2) have full scale IQs of 70 or above.