Prep U Chapter 32: genetic disorders

The nurse is educating a female client about genetic disorders. Which statement by the client best describes the major risk factor for trisomy 21?

increasing maternal age

A nurse has written the above discharge note. What other information should the nurse have included in the discharge instructions?

information about early intervention programs

The nurse is assessing a 2-week-old boy who was born at home and has not had metabolic screening. Which sign or symptom indicates phenylketonuria?

musty or mousy odor to the urine

The nurse is discussing nutritional requirements to the parents of a child diagnosed with phenylketonuria (PKU). Which food item would be appropriate to recommend?

orange slices

A 2-year-old child has been diagnosed with fragile X syndrome. In creating a nursing plan of care, which client goal will the nurse prioritize?

receives developmental support

The nurse on the postpartum unit is educating the parents of an newborn diagnosed with an genetic disease. What statement by the parent would indicate to the nurse that family is receptive to additional teaching?

"I am so glad we have this time of quiet to learn what we need to learn before we go home."

The parents of a child with a developmental disability express feeling guilty because they sometimes find themselves wondering how their child would be without the disability. Which response by the nurse best shows empathy and encourages the parents to vent their feelings?

"I can only imagine how hard it is for you. You should know that it is common for parents to have these feelings when having a child with special needs."

The nurse is educating the parent of a preschooler with trisomy 21 regarding oral health. What statement by the parent indicates the nurse's teaching was effective?

"I encourage him to brush his teeth and offer praises when he participates in brushing."

The nurse is educating a parent of a toddler with Down syndrome. Which statement by the parent indicates teaching was effective?

"I hope my child does well with the various therapies we have arranged."

A family has been given the news that their expected child has a serious genetic condition. Which therapeutic communication technique(s) will be beneficial for the nurse to use when helping this family? Select all that apply.

"I know this news has been hard. I am going to just sit with you and not talk while you begin to process your thoughts." "The health care provider suggested you seek genetic testing. Does this make you more upset?" "I know you have been given a large amount of information. I am interested in what you think."

The nurse is educating the parent of a male child born with trisomy 21. Which statement by the parent indicates teaching has been effective?

"I plan to make time for my child's multiple therapy appointments."

The nurse is teaching the parents of a male child with fragile X syndrome. Which statement by the parents requires further follow up by the nurse?

"Our child may have less severe symptoms due to being male."

A nurse is teaching the parents of an infant diagnosed with phenylketonuria (PKU) home management of the disorder. Which statement made by the parent indicates the teaching was effective?

"Phenylalanine levels will need to be checked at least once a week."

A nurse is caring for a client at 18 weeks' gestation with the karyotype results shown above. After receiving genetic counseling, the client asks what the child's life will be like. Which response by the nurse is best?

"Specialists and developmental therapies will need to be utilized throughout life."

A couple who are pregnant with their first child have made an appointment with a clinical geneticist to discuss prenatal screening. The man states that they, "just want to make sure that there is nothing wrong with our baby." How could the clinician best respond to this statement?

"Testing the umbilical blood and performing amniocentesis can give us some information, but not a guarantee."

The parents of a child with physical and developmental special needs state, "We wish our child could get some kind of educational experience." How should the nurse respond?

"This must be difficult for you. Let's talk with the social worker to see what programs are available for your child."

A nurse is discussing genetic screening with a client who gave birth yesterday. Which statement by the nurse best explains the reason for genetic screening?

"This will help to detect for possible inborn errors of metabolism such as phenylketonuria (PKU)."

The nurse is providing education to the parents of a child with trisomy 21. The parents ask the nurse about the purpose of early intervention therapy. Which response by the nurse best explains early intervention therapy?

"To help you meet your child's specific needs and to encourage development."

A nurse is teaching about autosomal dominant and recessive genetics. Which statement by the nurse is accurate?

"Two abnormal genes, one from each parent, are required to produce the phenotype in an autosomal recessive disorder."

The nurse is working with a family as they make decisions regarding their newborn's care following the diagnosis of a serious genetic disorder. What response by the nurse would be appropriate?

"What are some advantages and disadvantages of the decisions you are making for the baby?"

A nurse has assessed a newborn diagnosed with trisomy 13. The parents are at the bedside and have just been informed of the diagnosis. Which is the nurse's most appropriate action?

Allow time for the parents to ask questions and express their concerns.

The nurse is caring for an adolescent client with a genetic disorder with the following assessment data: large head, long face, prominent ears, flat feet, flexible joints, and a short attention span. Which facts are true for the suspected genetic disorder? Select all that apply.

Focus of care is on developmental therapies. It has an X-linked dominant inheritance pattern.

The parent of a newborn diagnosed with Turner syndrome asks the nurse about the treatment that will be required for their newborn. Complete the following sentence(s) by choosing from the lists of options. The nurse should educate the parents on the primary treatments used in the treatment of Turner syndrome, which includes

Growth Hormone Estrogen Therapy

The parent of a newborn diagnosed with Turner syndrome asks the nurse about the treatment that will be required for their newborn. Complete the following sentence(s) by choosing from the lists of options. The nurse should educate the parents on the primary treatments used in the treatment of Turner syndrome, which includes Select...growth hormoneantibioticscorticosteroidsgrowth hormone and Select...desmopressinthyroid medicationsestrogen therapythyroid medications

Growth Hormone Thyroid medications

The nurse is developing a plan of care for a child diagnosed with Fragile X syndrome. Which intervention(s) is appropriate for an individual with this condition? Select all that apply.

Refer the client for developmental therapies. Provide the caregivers with resources on support groups. Encourage the family to verbalize concerns about the diagnosis.

The nurse is evaluating the plan of care for an infant with trisomy 13. Which outcome(s) indicate that the plan of care has been effective for the infant's condition? Select all that apply.

The caregivers receive genetic counseling. The infant receives comfort care. Symptomatic care is provided as needed.

The nurse is caring for a school-aged child with Down syndrome in the home setting. Which assessment finding would alert the nurse to notify the health care provider immediately?

The child reports neck pain.

The student nurse is studying the genetics of clients who are seeking assistance from a genetic counseling center. The student nurse notes monogenic disorders have which characteristic?

The disorders are considered single-gene.

A nurse is evaluating the plan of care for a 30-month-old child with Down syndrome. Which outcome requires follow up by the nurse?

The parent has rescheduled three clinic visits.

The nurse is caring for several pregnant women. Which woman would the nurse identify as being at highest risk for having a child born with Down syndrome?

a women at 28 weeks' gestation who will be 37 years old at the time of delivery

In the newborn nursery, the nurse assesses a newborn and sees the ears are low-set. What action will the nurse take first?

assess for additional anomalies

Which physical assessment finding would the physician be more likely to find in an examination of a client with Down syndrome than of other clients without Down syndrome?

congenital heart defects

What is the main purpose of nurses having basic genetic knowledge?

to provide support and education to families

The nurse is caring for a client with trisomy 21. Which diagnostic procedures are recommended for potential complications with trisomy 21? Select all that apply.

ultrasound echocardiogram sleep apnea test