Sound Hypersensitivity in Fragile X Linked to Brainstem Changes

The role of FMRP in the development of the auditory system is disrupted in fragile X syndrome mouse model.

Hypersensitivity to sound observed in both humans and a mouse models with fragile X syndrome may be due to developmental changes in the brainstem driven by the disorder, according to animal research published in eNeuro.

Sarah Rotschafer and Karina Cramer studied groups of sound-processing neurons in the brainstem of mice that are genetically altered to model FXS through reduced expression of the fragile X mental retardation protein (FMRP). The researchers found reduced cell sizes in FXS mice of different ages relative to mice with typical levels of FMRP. These differences emerged in the studied cell groups at various stages of development, including very early on before the circuits supporting hearing have come online. Despite FXS being more common in males than females, the authors did not observe any sex differences in the development of the brainstem. These findings indicate a role for FMRP in the development of the auditory system, which is disrupted in this FXS mouse model.

Fragile X Syndrome - Causes Symptoms Signs Diagnosis Treatment
Fragile X syndrome is an inherited X-linked genetic disorder that results in developmental and intellectual disabilities, along with behavioral problems.

‘FXS model mice which had reduced FMRP levels showed reduced cell sizes compared to mice with typical FMRP levels.’

Source-Eurekalert

Children With Fragile X Syndrome Have a Bias Toward Threatening Emotion
Infants and children with FXS show bias toward threatening emotion, rather than positive emotion, a pattern which is highly linked with anxiety.

Better Measurement Tools Required To Treat Fragile X Syndrome
Newer outcome and assessment tools need to be developed for more rapid clinical trials to serve as markers for fragile X-specific drug trials.

Debunking the Myth That 'Fragile X Syndrome' Cannot be Treated
The awareness level about fragile X Syndrome in India with respect to other countries is considerably low.