Question

A 6-year-old boy with intellectual disability secondary to fragile X syndrome has been admitted to the hospital with a mitral valve prolapse. The health care worker caring for the child should have which concepts as part of her knowledge base regarding fragile X syndrome?

Answer 1

Answer:

The health professional who takes care of the case of the boy with fragile X syndrome should know that it is common for patients with this syndrome to have mitral valve prolapse.

Explanation:

Fragile X syndrome (FXS or SXF) is a genetic and hereditary condition, responsible for a large number of cases of mental deficiency and behavioral disorders, affecting one in 2,000 boys and one in 4,000 women. The syndrome is caused by mutations in the FRM1 gene present in a flaw called the fragile site located at the end of the long arm of the X chromosome.

For many carriers of the mutation, fragile X syndrome is asymptomatic. However, it is common for individuals with this syndrome to present behavioral disorders and intellectual impairment that can be present in different degrees, from mild learning or speech difficulties.

Some physical characteristics may suggest the presence of the syndrome from birth. This is the case of macrocephaly and low muscle tone. There are other subtle signs of the syndrome that become more evident with growth. They are: elongated face, large flapping ears, prominent jaw, very high and arched roof of the mouth, strabismus and myopia, joint hyperextension, hollow chest, mitral valve prolapse, recurrent otitis and, in 20% of cases, convulsions.