Sensory Processing Phenotypes in Fragile X Syndrome

Auditory Processing in Fragile X Syndrome

Fragile X syndrome (FXS) is an inherited form of intellectual disability and autism. Among other symptoms, FXS patients demonstrate abnormalities in sensory processing and communication. Clinical, behavioral, and electrophysiological studies consistently show auditory hypersensitivity in humans with FXS. Consistent with observations in humans, the Fmr1 KO mouse model of FXS also shows evidence ...

Sensory processing correlates of occupational performance in children with fragile X syndrome: preliminary findings.

OBJECTIVES This preliminary study examined sensory processing and its relationship to occupational performance in children with fragile X syndrome (FXS) to guide research and evidence-based practice. METHOD Fifteen school-aged boys with full-mutation FXS were assessed with three occupational performance measures (School Function Assessment, Vineland Adaptive Behavior Scales, play duration) an...

The fragile X syndrome.

We have begun to appreciate that the extent of this disorder is much wider than merely mental retardation. It is also a common cause of learning and emotional problems in mildly affected female carriers with normal IQs. These children present an enormous challenge to all child-care providers, be they in medicine, education, or in various therapy disciplines. Early identification is essential, a...

Fragile X syndrome.

Fragile X syndrome

Fragile X syndrome occurs as a result of a mutation of the fragile X mental retardation 1 (FMR1) gene on the bottom of the X chromosome (Pic. 1), which encodes fragile X mental retardation protein (FMRP). This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function. The CGG triplet that means gene segment consisting of a cytosine...