Imagine a ten-year-old boy with ninety pounds of raw, compressed energy. He has a particular attachment to his Playmobil trucks, rarely sharing his prized possessions with even his older brother. His long face, pronounced forehead, and goofy ears make him unique but it is his personality that is more striking. At the age of ten, he should be zooming around on his bike with his neighborhood pals...

PURPOSE In this study, the authors examined the impact of sampling context on multiple aspects of expressive language in male participants with fragile X syndrome in comparison to male participants with Down syndrome or typical development. METHOD Participants with fragile X syndrome ( n = 27), ages 10-17 years, were matched groupwise on nonverbal mental age to adolescents with Down syndrome...

We previously reported the isolation of a gene (FMR-1) expressed in brain at the fragile X locus. One exon of this gene lies within an EcoRI fragment that exhibits length variation in fragile X patients. This exon also contains the CGG repeat within the CpG island hypermethylated in fragile X patients. To study the involvement of the FMR-1 gene in the fragile X syndrome, its expression was stud...

Twelve males with fragile-X syndrome between the ages of three and 28 years underwent assessment of thyroid function. All 12 subjects demonstrated normal baseline values for thyroid stimulating hormone (TSH), thyroxine, thyroid binding globulin (TBG), and estimated free thyroxine (EFT). Relative to a control group reported in the literature, however, the fragile-X subjects exhibited a blunted T...

Fragile X syndrome is the most common inherited cause of mental retardation. Early diagnosis is important not only for appropriate management of individuals but also to identify carriers who are unaware of their high risk of having an affected child. The disorder is associated with a cytogenetically visible fragile site (FRAXA) at Xq27.3, caused by amplification of a (CGG)n repeat sequence with...

Physiological arousal was measured in 12- to 22-year-old females with either fragile X, Turner syndrome, or neither disorder to explore potential differences in the manifestation of arousal and anxiety in adolescents and young women. Physiological arousal was measured at baseline and during performance on mental arithmetic, divided attention, and risk-taking tasks. Contrary to prediction, femal...

A dynamic mutation in the fragile X mental retardation 1 gene, FMR1, was found to cause fragile X syndrome almost 20 years ago. Since, a wealth of information regarding the function of the gene has been gathered. It plays a role in RNA transport and stability and RNA-binding influences the function of a multitude of other genes. In this review, we focus on the recent knowledge of molecular and ...

Fragile X syndrome is caused by the functional loss of the fragile X mental retardation 1 (FMR1) gene. D eletion of the FMR1 ortholog in D rosophila melanogaster (Fmr1) recapitulates many phenotypes associated w ith fragile X syndrome. W e have discovered that Fmr1 mutant D rosophila die during development when reared on food containing increased levels of glutamate, w hich is consistent w ith ...

The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carr...