autism and fragile x syndrome have multiple behavioral phenotypes in common, however there has been little research into the potential role of fragile x mental retardation protein (fmrp) in autism. we sought to measure protein levels of fmrp in the lateral cerebella of subjects with autism and matched controls. we found significantly reduced levels of fmrp (p<0.0063) in subjects with autism. th...

We present two women with the fragile X syndrome (Martin-Bell syndrome) and autism. Both are mentally retarded, one mildly and one severely. Cytogenetic studies showed a high percentage of lymphocytes with the fragile X chromosome and inactivation occurring preferentially in the normal X chromosome. Autism is shown to be a severe behavioral and cognitive manifestation of the fragile X syndrome ...

Social skills impairment in children with Turner or fragile X syndrome has been documented using parental reports. Anxiety, shyness, and difficulty understanding social cues have been reported for females with Turner syndrome; whereas social withdrawal, avoidance of social interactions, and anxiety are often reported for females with fragile X syndrome. Social interaction anxiety in these two p...

We describe the case of a 6-year-old boy with both fragile X syndrome and Robertsonian Translocation (45, XY, der (13; 22) (q10; q10)). This is the first reported case of a patient with fragile X syndrome with this Robertsonian translocation. Facial features and macroorchidism were consistent with fragile X syndrome. Cognitive impairment is more significant than in his sibling with fragile X sy...

Approximately 40% of males with the fragile X premutation develop fragile X-associated tremor/ataxia syndrome after age 50. Although the thalamus and basal ganglia play a crucial role in movement disorders, their involvement in fragile X premutation carriers has not been systematically investigated. The current study characterized structural abnormalities associated with fragile X premutation c...

Fragile X syndrome is the most common cause of inherited intellectual impairment and the most common single-gene cause of autism. Individuals with fragile X syndrome present with a neurobehavioural phenotype that includes selective deficits in spatiotemporal visual perception associated with neural processing in frontal-parietal networks of the brain. The goal of the current study was to examin...