Which of the following treatment guidelines would be contraindicated when counseling the family of an infant with fragile X syndrome? Select all that apply
a. Advise genetic testing for family members.
b. Delay speech therapy until the child is 2 years of age.
c. Educate the family that their child will probably have normal intelligence.
d. Refer the family to an early intervention program.
B, C
Speech therapy should be started in the first year of life and continued on an ongoing basis. Waiting until the child is 2 years old would not be appropriate. Children with fragile X syndrome have a high incidence of intellectual, language, and social dysfunctions. It is the most common inherited cause of mental retardation. Because fragile X syndrome is an X-linked recessive disorder, genetic testing is appropriate. Early intervention programs assess the child and develop a plan of intervention; this is appropriate.
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