fragile X syndromeintellectual disabilityFragile X syndrome (FXS) is the most common identifiable cause of inherited intellectual disability and autism spectrum conditions, and is associated with a range of physical, cognitive and behavioural characteristics. Alongside intellectual disability, heightened rates...
et al. Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am. J. Intellect. Dev. Disabil. 115, 461–472 (2010). Google Scholar Hogan, A. L. et al. Autism spectrum disorder symptoms in infants with fragile X syndrome: a prospective case series. J. Autism Dev. ...
Fragile X syndrome is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. (The Y chromosome is the other sex chromosome in male.) Because both males (XY...
(>200 repeats) in theFMR1gene. Fragile X syndrome may present as only moderate to severe mental retardation, but it is often associated with a prominent forehead,large ears, prominent jaw, and macro-orchidism. Postpubertal males often have poor impulse control,perseveration, and poor eye ...
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...
Recent data from a national survey highlighted a significant difference in obesity rates in young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (FXS) is the most common cause of intellectual disability in males and the most common single gene cause of autis...
nervous. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness, limited eye contact, memory problems, and difficulty with face encoding. Some individuals with fragile X syndrome also meet the diagnostic criteria for autism...
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and autism.1 It has no evident phenotype detectable at birth and the physical characteristics are subtle and nonspecific.2,3 Genetic testing is recommended when speech and developmental delays become evident.3,4 ...
Fragile X syndrome is an X-linked neurodevelopmental disorder affecting both males and females. Phenotypical characteristics include intellectual deficits, somatic symptoms and behavioural abnormalities caused by loss of the FMRP protein, which leads to destruction of synapses with metabotropic glutamate recep...
The most common form of inherited mental retardation (MR) is Fragile X syndrome. The mutation of the gene completely turns off and does not produce the protein needed to make certain all other genes function properly. It is linked to other disorders. There are many characteristics connected to...