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Electrodermal responses to sensory stimuli in individuals with fragile X syndrome: a preliminary report.
The findings support the theory that individuals with fragile X syndrome have a physiologically based enhancement of reactions to sensations and suggest that the over-arousal to sensation may involve the sympathetic system. Expand
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates.
The clinical presentation of these patients, coupled with a specific lesion visible on magnetic resonance imaging and with neuropathological findings, affords a more complete delineation of this fragile X premutation-associated tremor/ataxia syndrome and distinguishes it from other movement disorders. Expand
The Behavioral Phenotype in Fragile X: Symptoms of Autism in Very Young Children with Fragile X Syndrome, Idiopathic Autism, and Other Developmental Disorders
The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies. Expand
Fragile X syndrome
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity,Expand
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.
A novel gene, ASFMR1, is reported, overlapping the CGG repeat region of FMR1 and transcribed in the antisense orientation, which suggests that in addition to F MR1, ASfMR1 may contribute to the variable phenotypes associated with the C GG repeat expansion. Expand
Sensory‐modulation disruption, electrodermal responses, and functional behaviors
Children with clinically identified SMD respond physiologically differently to sensory stimuli than typically developing children; these differences have ramifications for functional behavior. Expand
Advances in the Treatment of Fragile X Syndrome
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 fullExpand
Autism profiles of males with fragile X syndrome.
No significant relationship is found between the measures of autism and molecular features, including FMRP, FMRI mRNA, and CGG repeat number, in this cohort of males with fragile X syndrome. Expand
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population.
It is demonstrated that older male carriers of premutation alleles of the FMR1 gene are at high risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), and older men with ataxia and intention tremor should be screened for the F MR1 mutation. Expand
The FMR1 premutation and reproduction.
There are major gaps in knowledge regarding the natural history of the altered ovarian function in women who carry the FMR1 premutation, making counseling about reproductive plans a challenge and specialists in reproductive medicine can provide a supportive environment in which to explain the implications. Expand