Skip to main content


Showing posts with the label fragile x

Fragile X Syndrome

Fragile X Syndrome Fragile x syndrome is characterised by large ears, velvety skin, flat feet, testicular enlargement after puberty, speech “cluttered” attentional deficit, hand flapping. Autistic traits. CGG repeats over two hundred. Support –MDT. Speech and language, physio, psychological techniques for teachers/parents, look at educational needs. family support –carers' assessment. Genetic Aberration A mutation on the X chromosome at the Xq27.3 site.  Fragile-X mental retardation -1 Gene FMR1 is a human gene that codes for a protein called Fragile-X mental retardation protein (FMRP) that may help regulate synaptic plasticity, important for learning and memory.  Prevalence 1 of every 1,000 males 1 of every 2,000 females Intellectual disability Mild to severe. Eighty per cent of boys with fragile X syndrome have an intelligence quotient lower than 80. Co-morbidities Attention deficit hyperactivity, learning disorders, autism spectrum disorders Physical Features long face, long ear