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Dev Med Child Neurol. Consistent with the observations in humans with FXS, fragile X mental retardation 1 Fmr1 gene knockout KO rodent models of FXS also show seizures, abnormal visual-evoked responses, auditory hypersensitivity, and abnormal processing at multiple levels of the auditory system, including altered acoustic startle responses.
Among other sensory symptoms, individuals with FXS exhibit tactile defensiveness. Fmr1 KO mice also show impaired encoding of tactile stimulation frequency and larger size of receptive fields in the somatosensory cortex. Since sensory deficits are relatively more tractable from circuit mechanisms and developmental perspectives than more complex social behaviors, the focus of this review is on clinical, functional, and structural studies that outline the auditory, visual, and somatosensory processing deficits in FXS.
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U S A , E—E Thaung, C. Presence of visual head tracking differentiates normal sighted from retinal degenerate mice. Fragile X syndrome has an X-linked dominant inheritance, typically caused by an expansion of the CGG triplet repeat within the FMR1 fragile X mental retardation 1 gene on the X chromosome.
Most young children do not show any physical signs of FXS— physical features usually begin to develop around the time puberty begins. Aside from intellectual disability, prominent characteristics of the syndrome may include:. Behavioral characteristics may include stereotypic movements, such as hand-flapping and atypical social development, particularly:.
If your child suffers with any of the signs above contact a vision therapy eye doctor near you. Over half of the FXS population suffer from visual problems— m ost commonly eye turns , lazy eye and poor eye muscle control.
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