Chapter 49

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?

Cri-du-chat syndrome is the result of a missing portion of chromosome 5. In addition to an abnormal cry, which sounds much more like the sound of a cat than a human infant's cry, children with cri-du-chat syndrome tend to have a small head, wide-set eyes, a downward slant to the palpebral fissure of the eye, and a recessed mandible. They are severely intellectually disabled.

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

Both phenylketonuria and galactosemia are hereditary disorders in which the body cannot have milk.

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 assessing a 1-year-old child with Down syndrome at a routine well-child visit. Which statement by the parents indicates that the nurse should provide further teaching?

"I will need to delay any further immunizations." Children with Down syndrome are at higher risk for infection because of a lowered immune system.

The nurse is caring for an infant who has an extra chromosome 13. What trait would the nurse expect to find?

trisomy 13- extra digits

The primary treatments for Turner syndrome is

growth hormone and estrogen.

Which condition is a part of normal newborn screening?

phenylketonuria

A child with Turner syndrome is being seen in the clinic for an annual examination. What assessment would be most important for the nurse to complete?

It is essential for the nurse to measure the child's height at each health care visit. The administration of growth hormone is the gold standard of care.

The nurse is caring for a 1-year-old boy with Down syndrome. Which intervention would the nurse be least likely to include in the child's plan of care?

It is unlikely that the parents will need to know how to deal with seizures.

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 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." This is an irreversible progressive disorder that affects the functioning of muscles and the neurologic system. Symptoms cannot be controlled by changes in the diet, and medication therapy will not reverse symptoms nor prolong life.

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

Facial nevus or port wine stain is most often seen on the forehead and on one side of the face.

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?

Principles of inheritance of single-gene disorders are the same that govern the inheritance of other traits, such as eye and hair color.

The nursing instructor is conducting a class on the various genetic anomalies which can occur. The instructor will determine the session was successful when the students correctly point out that Down syndrome is related to which factor?

3 copies of chromosome 21 have occurred instead of 2 copies.

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.

A gene is the basic unit of heredity of all traits.

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

Children with Down syndrome are at risk for thyroid dysfunction (either high or low functioning) and should have routine thyroid screening completed

For a diagnosis of Klinefelter syndrome, what would be the chromosome pattern to identify this disorder?

47, XXY

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

Angelman syndrome is characterized by jerky ataxic movements, similar to a puppet's gait.

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?

Children with Down syndrome will accomplish eating with their hands by about 12 months of age. The child with Down syndrome will speak in sentences at 24 months rather than 21 months. Bladder training would occur by 48 months rather than 32 months. A child with Down syndrome will crawl at 11 months rather than 9 months.

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?

Children with phenylketonuria will have a musty or mousy odor to their urine, as well as an eczema-like rash, irritability, and vomiting.

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?

Children with trisomy 21 (Down syndrome) should brush their teeth regularly. The parent is offering praise to encourage the habit. The child should avoid hyperflexion of the neck due to the risk of atlantoaxial instability.

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?

Early intervention programs teach parents how to interact with their child while meeting the child's specific needs and encouraging development

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

Eliminating dairy products from the diet

The nurse provides education to the parents of a female child with Fragile X syndrome. Which statement made by the family demonstrates an understanding of this disorder?

Fragile X syndrome is an X-linked dominant disorder that has a good prognosis with a normal life span. Both males and females with Fragile X syndrome are able to reproduce.

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 is one of the traits associated with Fragile X syndrome, which results from an inactive X chromosome. Cleft palate is associated with trisomy 13, palmar crease is associated with trisomy 21, and prominent occiput is associated with trisomy 18.

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?

Hypertelorism is congenital, abnormally wide-spaced eyes. Children with this syndrome also have short stature, microcephaly, a simian crease and a weak, cat-like cry during infancy.

The nurse is assessing an 8-week-old infant in the clinic. The parent states the infant was feeding well and gaining weight until a few weeks ago and now is noted to have lost weight and "isn't doing well" per the parent. What action would the nurse take next?

If an infant who was otherwise healthy begins to show signs of deterioration, the nurse would further assess for an inborn error of metabolism

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?

Individuals with trisomy 21 primarily have developmental delays and will require referrals for appropriate developmental therapies. Numerous health problems can occur and require specialist consults

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

Klinefelter syndrome affects males, causing only testosterone deficiency. Males may develop female-like characteristics such as gynecomastia and may experience hypogonadism. Decreased pubic and facial hair, along with tall stature, are characteristic of the disorder.

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?

Marfan syndrome is a disorder that affects connective tissue. The aorta is susceptible to weakening because of the connective tissue disorder, leading to sudden death from aortic dissection

The nurse is caring for an infant newly diagnosed with trisomy 18. Which action by the nurse should take priority?

Most infants diagnosed with trisomy 18 do not survive past infancy. The priority would be providing symptomatic care.

Which statement about nondisjunction of a chromosome is true?

Nondisjunction simply means failure to separate.

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?

Prenatal screening provides a useful, but incomplete, picture of fetal health; umbilical sampling and amni ocentesis are common methods of screening

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 are frequently the first indication of Turner syndrome.

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

Tay-Sachs disease is a serious genetic disorder in which the infant may appear normal and healthy but begins to decline after the first few months, with death in early childhood. There is no cure, and the child will not outgrow the symptoms.

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

The child is exhibiting signs and symptoms of increased intracranial pressure related to premature fusing of the skull joints. Surgery will be needed to relieve the pressure.

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 Most inborn errors of metabolism are present and diagnosed at birth or shortly after birth.An inborn error of metabolism may not manifest until the adolescent, preschool, or toddler age, but it would be uncommon.

The nurse is educating an 17-year-old client with Turner syndrome. What information will the nurse ensure is included in the teaching plan?

The older adolescent will need education on infertility and family planning, because most clients with Turner syndrome are infertile but spontaneous pregnancy may occur.

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.

The signs and symptoms described are common findings for adolescents with Fragile X syndrome. Fragile X syndrome has an X-linked dominant inheritance pattern and the focus of nursing care is on ensuring the client has the appropriate developmental referrals.

The nurse is talking with a pregnant woman who is a carrier for a genetic disorder. The woman does not have any symptoms of the disorder. The pregnant woman asks the nurse about the risk to her unborn baby. What is the most appropriate response by the nurse?

When an individual is a carrier for a genetic disorder the risk can only be assessed after viewing the genetic profile of the other parent