Chapter 49 Peds PrepU

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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 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."

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."

A nurse is providing a seminar on genetic conditions. A participant asks what the difference is between trisomy 13 and trisomy 18. Which response by the nurse best demonstrates a difference between the two conditions?

"Individuals can have partial trisomy 18 and have an increased risk of their children having trisomy 18."

The nurse is caring for a pregnant client who received prenatal testing. The results showed phenylketonuria (PKU). The client is concerned and asks the nurse about PKU. Which statement made by the nurse is most accurate?

"It can lead to brain damage without treatment."

A nurse is caring for a 41-year-old woman at 11 weeks' gestation. The client asks the nurse why she is being asked about genetic testing, and whether testing is a good idea. Which statement(s) made by the nurse is accurate? Select all that apply.

"Prenatal testing can detect genetic disorders, but each test has risks." "After the age of 35, there is an increased chance of having a child with a genetic disorder." "It is a legal requirement to offer genetic testing to someone at risk for having a genetic disorder."

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 diagnosed with Tay-Sachs inquire about progression of the disorder. Which statement by the nurse is accurate?

"The child will experience decreased muscular and neurologic functioning until death occurs."

The nurse is performing phenylketonuria (PKU) screening for a 1-day-old infant. The parent asks the nurse why this screening was not performed at birth. Which response by the nurse is most accurate?

"The infant needs to receive enough feeding first."

The nurse is educating a couple expecting their first child. The parent asks the nurse, "Why isn't my doctor ordering a percutaneous umbilical blood sample now that I am almost 20 weeks' pregnant? We are anxious to know if our baby has any genetic concerns." What would be the nurse's best response?

"There are less risky ways to assess for genetic concerns in the fetus."

The parent of an infant born with trisomy 18 says to the nurse, "I am so lost...I can't even think about my baby not being healthy." How should the nurse respond?

"This is a sad time for you. I will sit with you quietly in case you want to talk."

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."

The nurse is educating the parents of a newborn diagnosed with Tay-Sachs disease. Which parent statement would indicate additional teaching is needed?

"We are happy he will eventually grow out of these symptoms."

The nurse is teaching the parents of a 14-year-old boy who has been diagnosed with Klinefelter syndrome. Which response by the parents indicates a need for more teaching?

"We could have also had a girl with male characteristics."

A 16-year-old recently diagnosed with Marfan syndrome states, "I feel fine. Why do I need to have this testing done?" What is the best response by the nurse?

"You are at risk of rupturing your aorta, and the echocardiogram will let us know if there are any problems."

The nurse is describing some of the developmental milestones the mother of a 3-month-old boy with Down syndrome can expect to see in her child. Which statement describes the milestones that are expected in a child with Down syndrome?

"You can expect him to eat with his hands by age 12 months."

A 25-year-old client with a newborn male asks if the newborn is at risk for Down syndrome because the client's distant relative was diagnosed with Down syndrome. Which information will the nurse share with the client?

All newborns are at risk because Down syndrome occurs from extra genetic material created during development of the sperm or egg.

Parents have just given birth to a child diagnosed with trisomy 21 (Down syndrome). The couple are parents of 3 other children under the age of 8 years old with no genetic disorders. What would be a priority nursing diagnosis at this time?

Deficient knowledge regarding trisomy 21

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.

From which pair of metabolic disorders must the nurse instruct the parents to eliminate breast and cow's milk from the diet?

Galactosemia and phenylketonuria

The nurse is educating parents of an toddler with Down syndrome. What would the nurse include in the teaching plan?

Have the child's thyroid function tested regularly.

The nurse is assessing a 7-year-old girl with Down syndrome. Which would the nurse be least likely to assess?

Inspection finds the nasal passages clear and open.

The nurse is assessing a 3-year-old boy with Sturge-Weber syndrome. Which finding is most indicative of the disorder?

Inspection reveals a port-wine stain.

Which statement about nondisjunction of a chromosome is true?

It is failure of the chromosomal pair to separate.

An infant with craniosynostosis from Apert syndrome becomes lethargic and starts to vomit. What is the priority nursing intervention?

Notify the doctor and prepare for surgery.

The nurse is performing a physical examination on a 1-week-old girl with trisomy 13. What would the nurse expect to assess?

Observation reveals a microcephalic head.

The nurse is examining an 8-year-old boy with chromosomal abnormalities. Which sign or symptom suggests the boy has Angelman syndrome?

Observation shows jerky ataxic movement.

The nurse is caring for a client with cognitive impairment that has a short stature, lack of muscle tone, and low-set ears. Which action(s) by the nurse would be appropriate? Select all that apply.

Perform developmental screening. Provide caregivers with education on trisomy 21.

The parent of a 2-week-old infant with trisomy 21 presents to the clinic with concerns about poor feeding in the infant. What does the nurse understand about feeding concerns in infants with trisomy 21? Select all that apply.

Poor muscle control contributes to the feeding difficulties. Nasal stuffiness contributes to the difficulty of sucking and breathing during feeding.

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 educating the parents of a newborn with freckling on the armpit and eight light brown spots approximately 7 mm in diameter on the newborn's skin. What would the nurse plan to include in the teaching plan?

The child will need follow-up for complications as they arise.

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.

US echocardiogram sleep apnea test

The nurse is obtaining an admission history of a school-aged child on the pediatric unit. The child says, "My mom won't let me play football or soccer, but I am really good at swimming and chess club." The nurse would review the child's medical record for what disorder?

VATER syndrome

The nurse is reviewing the health records for several children at a health clinic. Which child would the nurse expect to be newly diagnosed with an inborn error of metabolism?

a newborn female

A clinician who works on a cardiac care unit of a hospital is providing care for a number of clients. Which client most likely has a genetic disorder arising from inheritance of a single gene?

a tall, thin, myopic, 28-year old woman with mitral valve prolapse

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

Which documentation by the nurse supports a recent diagnosis of neurofibromatosis in a 6-year-old?

abnormal curvature of the spine and 12 light brown spots measuring between 6 and 8 mm in diameter

A woman in her third trimester has just learned that her fetus has been diagnosed with cri-du-chat syndrome. The nurse recognizes that this child will likely have which characteristic?

an abnormal, cat-like cry

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

The nurse is conducting a teaching presentation to a support group for caregivers of children with Down syndrome. What would the nurse include in the teaching plan as an appropriate meal for a school-aged child?

bean soup with fresh fruit

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

The nurse is caring for a newborn diagnosed with an inborn error of metabolism with several referrals ordered. What referral would the nurse place as the priority for the infant?

dietician

The nurse is caring for a newborn girl with galactosemia. Which intervention will be necessary for her health?

eliminating dairy products from the diet

After teaching a class of students about genetics and inheritance, the instructor determines that the teaching was successful when the students identify this as the basic unit of heredity.

gene

The parent of a newborn diagnosed with Turner syndrome asks the nurse about the treatment that will be required for their newborn.

growth hormone estrogen therapy

The nurse is providing education to a client on genetic disorders. Which trait would be expected in a child born with an inactive X chromosome?

hand flapping

The nurse is examining a 2-year-old girl with VATER association. Which sign or symptom should be noted?

history of corrective surgery for anal atresia

An 18-year-old male is diagnosed with Klinefelter syndrome. What signs and symptoms are consistent with this diagnosis?

hypogonadism and gynecomastia

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

The nurse is assessing the eyes of a 6-month-old and notices that she has wide-spaced eyes and bilateral epicanthal folds. Which condition associated with these findings should also be assessed for in this child?

low-set, malformed ears

One of the characteristic signs in prepubertal males with fragile X syndrome is:

macro-orchidism.

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

A nurse is describing the underlying cause of trisomy 21 to a group of parents, integrating knowledge that the disorder is due to:

nondisjunction.

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

Which condition is a part of normal newborn screening?

phenylketonuria

A nurse is assessing a child diagnosed with Sturge-Weber syndrome. What finding would the nurse expect to find when assessing the skin?

port wine stain

The nurse is educating an 18-year-old female client with Turner syndrome. What information will the nurse include in the teaching plan?

resources regarding infertility and family planning

The nurse is performing an assessment of a 6-year-old girl with Turner syndrome. What finding would the nurse most likely assess?

short stature and slow growth

A 6-year-old girl with a diagnosis of Marfan syndrome is being assessed at a community health clinic. Which assessment would be the health care provider's lowest priority?

tests of kidney function

When teaching about Turner's syndrome, what should the nurse include?

timing and use of growth hormone

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

to provide support and education to families


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