An 8-month-old child with congenital myotonic dystrophy has been ...

[kodithompson]

An 8-month-old child with congenital myotonic dystrophy has been hospitalized with a severe respiratory infection. Which action by the nurse is the most appropriate?
 
  A.
  Determine if the family wants aggressive ventilatory support.
  B.
  Discuss the option of lung transplantation with the family.
  C.
  Hold a family meeting to discuss palliative care measures and code status.
  D.
  Inform the family the child will be ventilator dependent as she gets older.

Question 2

The parents of a child recently diagnosed with Duchenne's muscular dystrophy want to know if their infant twin daughters should be tested for the disease too. Which response by the nurse is the most appropriate?
 
  A.
  No, Duchenne's muscular dystrophy is a sex-linked genetic disorder rarely affecting females.
  B.
  No, infants the age of your daughters are too young to undergo testing for Duchenne's muscular dystrophy.
  C.
  Yes, the earlier the diagnosis of any type of muscular dystrophy is made, the better the child's quality of life.
  D.
  Yes, females are equally likely to have Duchenne's muscular dystrophy as are boys.

[nickk12214]

Answer to Question 1

ANS: C
Congenital myotonic dystrophy usually causes death before the age of 1 year due to the inability to maintain respirations. In this situation, the nurse should have a meeting with the family to explore a broad range of therapeutic options, including palliative care measures and code status. Just inquiring about ventilatory support is too narrow a focus. Lung transplantation is not a treatment for this disorder. Children with this disease die at a young age, and so they do not grow up dependent on ventilators.

Answer to Question 2

ANS: A
Duchenne's muscular dystrophy is a sex-linked recessive disease that usually only affects males. Females with Turner's syndrome, in which the child only inherits one X chromosome from the mother, can be affected, but females are usually carriers. The infant twin daughters do not need to be tested.