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, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repe...
Little is known about care needs of young adults with Fragile X Syndrome (FXS). Patient-driven information is needed to improve understanding and support of young adults with FXS. A qualitative study was performed in 5 young adult patients (aged 18-30), and 33 parents of young adults. ...
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, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repe...
Thefragile X syndromeis the most common cause of inherited mental retardation with a variable phenotype depending on number oftrinucleotiderepeats in theX chromosome. Male adults with low CGG repeat expansion may have late onsetataxiaand tremor (fragile X-associated tremor/ataxia syndrome, FXTAS). Wo...
Mutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X syndrome. Normally, the gene makes a protein called fragile X mental retardation protein (FMRP) that you need for brain development. But the FMR1 gene mutation causes a person to make little or none of the protein....
Objective To explore preferences for sharing EHRs for research among young adults ages 18-40 who make their own legal decisions and who have autism spectrum disorder (ASD), fragile X syndrome (FXS), or no NDDs. Methods We conducted a qualitative study with seven focus groups: 2 ASD groups,...
fragileXisasinglegenedisorder,thereisabroadimpactonthegenome.DifferentCGGrepeatlengths inthegeneresultintwodisordersthroughseparatemechanisms: •FragileXsyndrome(FXS),theleadingheritableformofmentalimpairment,occursin individualswiththefullmutation(over200CGGrepeats).FXSresultsfromthetranscriptional silencingofFMR1with...
New insights into the molecular machinations behind fragile X syndrome, the most common inherited intellectual disability, may help researchers develop potential therapies. Fragile X is a genetic condition that affects one in 4,000 males and one in 6,000 females. It's linked to variations in the...
A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet 46: 266–271. The first treatment of individuals with FXS with an mGlu5 inhibitor: objective improvement in PPI deficits with treatment. Berry-Kravis E, Knox A, Hervey C (2011). Targeted ...
Fragile X syndrome (FXS), the most prevalent inherited cause of intellectual disability, remains underdiagnosed in the general population. Clinical studies have shown that individuals with FXS have a complex health profile leading to unique clinical needs. However, the full impact of this X-linked ...