Chapter 49: Nursing Care of the Child With an Alteration in Genetics

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? "Once we get our baby home and settled, everything will be just fine. We aren't concerned." "I think we would understand better if you just wrote down the information and sent it home with us." "I feel like we have learned so much today already and it is a lot to learn at one time." "I am so glad we have this time of quiet to learn what we need to learn before we go home."

"I am so glad we have this time of quiet to learn what we need to learn before we go home." The nurse should ensure that the family is willing to learn for teaching to be effective, as indicated by the parent noting that this is a quiet time to learn what is needed. The other parental statements indicate the session is too long or the parent is not ready to accept the diagnosis.

The nurse is educating a parent of a toddler with Down syndrome. Which statement by the parent indicates teaching was effective? "I know my child will meet developmental milestones earlier than my other children." "I hope my child does well with the various therapies we have arranged." "I will continue to offer my child low fiber foods for meal and snacks." "I am aware my child needs to be immunized on a delayed schedule."

"I hope my child does well with the various therapies we have arranged." The child with Down syndrome will likely require individualized physical, occupational and speech therapy. The nurse would encourage high fiber meals/snacks due to gastrointestinal concerns such as constipation. The child with Down syndrome should be immunized on the same schedule as a child without Down syndrome. Typically, children with Down syndrome meet the same developmental milestones as children without Down syndrome but on a delay.

Which statement by the parent of a 12-month-old child diagnosed with Down syndrome shows the need for further education? "In a couple of years, my child will need an x-ray of the neck." "I will need to delay any further immunizations." "Thyroid testing is needed every year." "I will watch closely for development of respiratory infection."

"I will need to delay any further immunizations." Down syndrome children are at higher risk for infection because of a lowered immune system. Delaying immunizations may expose the child to illnesses that could have been prevented. Down syndrome children are at greater risk for developing thyroid disorders, 1st and 2nd vertebrae disorders, and respiratory infections.

The nurse is providing discharge education to the parents of an infant newly diagnosed with phenylketonuria (PKU). Which statements made by the parents demonstrate an understanding of the education? Select all that apply. "Laboratory testing will need to be performed regularly until the age of 21." "Formula options are available that contain low levels of phenylalanine." "A normal lifespan is possible as long as treatments are maintained." "Phenylalanine inhibitors will have to be taken for life." "Our child will always need to be on a reduced phenylalanine diet."

"Our child will always need to be on a reduced phenylalanine diet." "A normal lifespan is possible as long as treatments are maintained." "Formula options are available that contain low levels of phenylalanine." PKU requires lifelong dedication to laboratory testing and a diet low in phenylalanine. The prognosis for PKU is good if phenylalanine levels are controlled. There are formula options low in phenylalanine that allow infants to be fed, and for children to enjoy treats such as ice cream. There are no medications called phenylalanine inhibitors. Clients or families may hear the myth that lifestyle changes with PKU are not as important in adulthood. Nurses need to be ready to factually correct this statement.

The parents of a child diagnosed with Tay-Sachs inquire about progression of the disorder. Which statement by the nurse is accurate? "Anticonvulsants will be given to prolong life and prevent further brain damage." "Lifetime steroid therapy will reverse the blindness." "Symptoms can be controlled by eliminating dairy products." "The child will experience decreased muscular and neurologic functioning until death occurs."

"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. Medication will be used to treat symptoms and provide comfort measures.

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 difficult time, but let's talk about the ways your baby will outgrow this." "This is a sad time for you. I will sit with you quietly in case you want to talk." "I understand...we occasionally see clients with trisomy 18 and it is very sad." "I would encourage you to talk with the doctor about ways to cure this disorder."

"This is a sad time for you. I will sit with you quietly in case you want to talk." The prognosis is poor for children with trisomy 18 and therapeutic communication involves the nurse being available to offer support. The nurse shouldn't express an understanding of a parent's situation as each parent is unique and this response dismisses the parent's emotions. There is no cure and the child will not outgrow the disorder, so the nurse shouldn't offer this as an option.

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)." "Screening provides us with information to select an immunization schedule that is best for your newborn." "Screening is a mandated procedure that is unable to be refused, but it will not harm you or your newborn." "Genetic screening helps identify diseases your newborn may contract during the first few days of life."

"This will help to detect for possible inborn errors of metabolism such as phenylketonuria (PKU)." Newborn screening is required for all infants to help detect for PKU. Genetic screening does not relate to diseases the newborn may contract and it does not alter the immunization schedule. It is true that screening is mandated, but this does not answer the reason for genetic screening.

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 provide you ready access to appropriate referrals needed for development." "To help you meet your child's specific needs and to encourage development." "To relieve your caregiver strain by offering home health services." "To help you find the right school programs for your school-age child."

"To help you meet your child's specific needs and to encourage development." Early intervention programs teach parents how to interact with their child while meeting the child's specific needs and encouraging development. It helps the parent and the child. Finding access to appropriate referrals needed for development is a component of early intervention therapy but is not the best explanation. Early intervention therapy can help with recommending school programs but is not the best explanation. While caregiver strain may be present with a parent of a child with genetic disorders, early intervention therapy does not provide home health services for this need.

The nurse is educating the parents of a newborn diagnosed with Tay-Sachs disease. Which parent statement would indicate additional teaching is needed? "Even though he looks healthy, this is a serious genetic disorder." "Our baby may need medication to control seizures if they occur." "We are very sad there is no cure for this disease at this time." "We are happy he will eventually grow out of these symptoms."

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

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? "There is no way to assess the risk to the baby until after he is born." "Since you are only a carrier for the gene, there is no risk to your baby." "As a carrier of the gene there is a strong chance your child will be born with the disorder." "We can only assess the potential risk after the baby's father undergoes genetic testing."

"We can only assess the potential risk after the baby's father undergoes genetic testing." 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. If the child's father is not a carrier of the gene or have the disorder there is no risk for the child to have the disorder. The child, however, can be a carrier like the mother.

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? "So this condition may help explain some of his poor performance in school?" "Our son will need hormonal therapy for the rest of his life." "We could have also had a girl with male characteristics." "He may need to get breast reduction surgery in the future."

"We could have also had a girl with male characteristics." The couple does not understand that this disorder does not occur in females. Klinefelter syndrome is an abnormality of the sex chromosome that affects only males. Klinefelter syndrome is caused by testosterone deficiency and is treated with testosterone replacement. Cognitive impairments do occur, sometimes in the form of learning disabilities, speech or language difficulties, or attention deficits. Breast reduction surgery may be necessary if gynecomastia occurs.

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? "The lab work will let us know if you are developing diabetes as a complication." "This is routine. Nothing to worry about." "You are at risk of rupturing your aorta, and the echocardiogram will let us know if there are any problems." "You want to live a long time, right?"

"You are at risk of rupturing your aorta, and the echocardiogram will let us know if there are any problems." 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. Diabetes is not a complication of Marfan syndrome. The other two choices offer no information and dismiss the teen's concerns.

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. chromosome allele gene autosome

gene A gene is the basic unit of heredity of all traits. A chromosome is a long, continuous strand of DNA that carries genetic information. An allele refers to one of two or more alternative versions of a gene at a given position on a chromosome that imparts the same characteristic of that gene. An autosome is a non-sex chromosome.

The nurse is assessing an infant in the pediatric clinic and notes the infant's hands are short and wide. What assessment would the nurse perform next? body temperature urinalysis height and weight feeding history

height and weight Height and weight would be an appropriate assessment to further assess the infant for achondroplasia. Short, stubby hands are a manifestation of achondroplasia. The other responses are not specific to achondroplasia.

For a diagnosis of Klinefelter syndrome, what would be the chromosome pattern to identify this disorder? 47, XXY 23, XY 46, XY 46, XYY

47, XXY Most males with Klinefelter syndrome have one extra X chromosome (47, XXY), and in rare cases there may be one additional extra X chromosome (48, XXXY).

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 use of hearing aid cleft in the iris underdeveloped labia

history of corrective surgery for anal atresia The nurse would likely find records of corrective surgery for anal atresia because it is a symptom of VATER association. The nurse may observe that the child has a hearing deficit, underdeveloped labia, and a coloboma, along with heart disease, retarded growth and development, and choanal atresia if the child had CHARGE syndrome.

The nurse is educating parents of an toddler with Down syndrome. What would the nurse include in the teaching plan? Use a heating pad if the child reports neck pain. Plan to see a dentist when the child is in preschool to screen for extra teeth eruptions. Have the child's thyroid function tested regularly. The child should be meeting milestones the same as typical peers.

Have the child's thyroid function tested regularly. Children with Down syndrome are at risk for thyroid dysfunction (either high or low functioning) and should have routine thyroid screening completed. Neck pain in a child with Down syndrome may be a sign of atlantoaxial instability and the health care provider should be notified immediately. Milestones are met in the same order as typical children but may be delayed. Children with Down syndrome should be seen by a dentist due to the risk of delayed teeth eruption or hypodontia.

Which statement about nondisjunction of a chromosome is true? Only 4% of Down syndrome cases are attributed to this defect. It is failure of the chromosomal pair to separate. It may result from genomic imprinting. Only the X chromosomes are affected.

It is failure of the chromosomal pair to separate. Nondisjunction simply means failure to separate. Nondisjunction can happen at any chromosome and is attributed to 95% of Down syndrome cases. Genomic imprinting is a different genetic disorder that is not related to nondisjunctioning.

The nurse is assessing a newborn. Which assessment finding(s) warrants further action? Select all that apply. Measurement shows a slightly larger head size. Inspection discloses several café au lait spots on the trunk. Assessment reveals abnormal curvature of the spine. History shows a great grandparent had neurofibromatosis. Inspection reveals mottling on the newborns legs.

Measurement shows a slightly larger head size. Inspection discloses several café au lait spots on the trunk. Assessment reveals abnormal curvature of the spine. Numerous café-au-lait spots on the trunk of the child, a slightly larger head size due to abnormal development of the skull, and abnormal curvature of the spine (especially scoliosis) are clinical signs of neurofibromatosis. The inheritance pattern is autosomal dominant; therefore, a first-degree relative rather than a second or third-degree relative having had neurofibromatosis is a risk factor for the disorder. Two or more clinical signs and symptoms of the disorder must be present for a diagnosis to be made. Mottling of the skin is a common finding in newborns and does not require further action.

An infant with craniosynostosis from Apert syndrome becomes lethargic and starts to vomit. What is the priority nursing intervention? Reassess every hour and document findings. Notify the doctor and prepare for surgery. Give IV dextrose. Monitor intake and output.

Notify the doctor and prepare for surgery. 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. IV dextrose is contraindicated with increased intracranial pressure. Waiting 1 hour to reassess may lead to brain damage and death. Monitoring intake and output is needed with a hospitalized child but is not the priority intervention based on presentation of symptoms.

The nurse is performing a physical examination on a 1-week-old girl with trisomy 13. What would the nurse expect to assess? Observation discloses severe hypotonia. Inspection reveals hypoplastic fingernails. Inspection shows a clenched fist with overlapping fingers. Observation reveals a microcephalic head.

Observation reveals a microcephalic head. Children with trisomy 13 have microcephalic heads with malformed ears and small eyes. Severe hypotonia, hypoplastic fingernails, and clenched fists with index and small fingers overlapping the middle fingers are typical symptoms of trisomy 18.

The nurse is examining an 8-year-old boy with chromosomal abnormalities. Which sign or symptom suggests the boy has Angelman syndrome? History shows surgery for cleft palate repair. Observation reveals moonlike round face. Palpation discloses muscular hypertonicity. Observation shows jerky ataxic movement.

Observation shows jerky ataxic movement. Angelman syndrome is characterized by jerky ataxic movements, similar to a puppet's gait. Hypotonicity is a symptom of Angelman syndrome as well as Prader Willi syndrome, and Cri-du-chat. Cleft palate is a symptom of velo-cardio-facial/DiGeorge syndrome.

The nurse is caring for an infant newly diagnosed with trisomy 18. Which action by the nurse should take priority? Obtain referrals for appropriate developmental therapies. Arrange for the caregivers to receive genetic counseling. Provide symptomatic care. Educate the caregivers on foods high in phenylalanine.

Provide symptomatic care. Most infants diagnosed with trisomy 18 do not survive past infancy. The priority would be providing symptomatic care. Foods high in phenylalanine would be important for phenylketonuria, not trisomy 18. Genetic counseling is important for the caregivers but would not come before providing symptomatic care. Referrals for developmental therapies are important for other genetic disorders but would not be a priority for trisomy 18 right after birth.

A hospitalized child with DiGeorge Syndrome has a low calcium level, a high phosphorus level, a low potassium level, and a low magnesium level. Based on these results, what is the priority of care for this child? correct the low magnesium administer phosphate binders administer calcium correct the low potassium

administer calcium DiGeorge Syndrome is a genetic defect that is manifested by hypoplasia of the thymus and the parathyroid glands. As such, the calcium levels would be low and the primary intervention would be to correct the low calcium. If the calcium is low, the phosphorus would normally be high. The correction for this is to administer calcium and bring it back into balance. Phosphate binders to lower the phosphate would not be needed. If the calcium is corrected, it will also indirectly correct the magnesium and the potassium.

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? small and nonfunctional ovaries cleft lip and palate an abnormal, cat-like cry rounded soles of the feet (rocker-bottom)

an abnormal, cat-like cry 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. Rounded soles of the feet are characteristic of trisomy 18 syndrome. Cleft lip and palate are characteristic of trisomy 13 syndrome. Small and nonfunctional ovaries are characteristic of Turner syndrome.

In the newborn nursery, the nurse assesses a newborn and sees the ears are low-set. What action will the nurse take first? document the findings check the family history for genetic conditions assess for additional anomalies report the finding to the health care provider

assess for additional anomalies Low-set ears are considered a minor anomaly, but if they are present, the nurse should further assess for additional anomalies. Low-set ears are associated with numerous genetic dysmorphisms. The nurse could assess for overlapping digits, syndactyly, a flat occiput, hemangioma, nevi, and ear lobe creases. The number of minor anomalies found increases the likelihood of a major anomaly. If three or more minor anomalies are found, the chances of a major anomaly or cognitive impairment increases 19% to 26%. The nurse should thoroughly assess the newborn first for all anomalies, then document the findings and report them to the health care provider. The family history could provide clues as to why the newborn has the assessment findings, but exploring this history is not as imperative as conducting a thorough assessment.

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 infertility hepatomegaly diabetes mellitus

congenital heart defects Congenital heart defects are associated with Down syndrome. Hepatomegaly, infertility, and diabetes are not associated.

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? community support group spiritual advisor genetic counseling dietitian

dietitian The infant born with an inborn error of metabolism will have specific dietary guidelines, and the parents need to understand the dietary restrictions soon after birth to ensure the child is not harmed. The other referrals are important and should be addressed soon after birth.

The nurse is caring for a newborn girl with galactosemia. Which intervention will be necessary for her health? adhering to a low phenylalanine diet supplementing with thiamine throughout the lifespan eliminating dairy products from the diet eating frequent meals and never fasting

eliminating dairy products from the diet Galactosemia is a deficiency in the liver enzyme needed to convert galactose into glucose. This means the child will have to eliminate milk and dairy products from her diet for life. Adhering to a low phenylalanine diet is an intervention for phenylketonuria. Eating frequent meals and never fasting is an intervention for medium-chain acyl-CoA dehydrogenase deficiency. Maple sugar urine disease requires a low-protein diet and supplementation with thiamine.

The nurse is caring for an infant who has an extra chromosome 13. What trait would the nurse expect to find? extra digits flat occiput hypoplasia of the fingernails wide neck

extra digits An extra chromosome 13 is characteristic of trisomy 13. Extra digits are one of the clinical signs that can be present. Hypoplasia of the fingernails is associated with trisomy 18. A wide neck is associated with Turner syndrome. A flat occiput is associated more with trisomy 21.

The nurse is assessing an infant diagnosed with trisomy 13. What would the nurse expect to find? Select all that apply. short sternum fingernail hypoplasia extra digits prominent occiput small eyes wide sagittal suture

extra digits small eyes wide sagittal suture An infant with trisomy 13 would exhibit wide sagittal suture and fontanels (fontanelles), small eyes, and extra digits. Short sternum, fingernail hypoplasia, and prominent occiput are associated with trisomy 18.

The nurse is educating a female client about genetic disorders. Which statement by the client best describes the major risk factor for trisomy 21? drug use during pregnancy increasing maternal age nondisjunction during conception family history

increasing maternal age Increasing maternal age is the most significant risk factor for having a child with trisomy 21. In most cases trisomy 21 is not inherited. Drug use during pregnancy can increase the risk of disorders, but not a greater risk than advancing age. Nondisjunction is part of the pathophysiology that occurs with trisomy 21; it is not a risk factor for trisomy 21 but instead a pathophysiologic process.

The nurse is caring for a 3-day-old infant with Down syndrome whose mother had no prenatal care. What is the priority nursing concern? growth and developmental delays related to cognitive impairment infection risk related to decreased muscle tone and poor mucus drainage knowledge deficiency related to the presence of unexpected genetic disorder malnutrition risk, related to the effects of hypotonia

malnutrition risk, related to the effects of hypotonia An infant with Down syndrome may have difficulty sucking and feeding due to a lack of muscle tone and the structure of the mouth and tongue. This can lead to poor nutritional intake, which makes this the priority concern. In addition, when using Maslow's hierarchy of needs to plan care, physiologic needs rank the highest priority. Knowledge deficiency due to lack of information about the disorder is a close second in priority, as the mother did not know of her infant's condition before birth and has much to learn now. This child is at risk for complications such as infection, heart disease, and leukemia. Thus, this child will require frequent assessment. Most children with Down syndrome experience some degree of cognitive impairment, but early intervention will allow the child maximum development within the limits of the syndrome. Mobility is delayed but should not be a problem at 3 days of age.

Which condition is a part of normal newborn screening? cystic fibrosis sickle cell anemia Down syndrome phenylketonuria

phenylketonuria Phenylketonuria is part of normal newborn screening. Prenatal screening includes Down syndrome. Preconception screening includes sickle cell anemia and cystic fibrosis.

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 options for a cure as the client enters adulthood requirements for postsecondary educational needs the need to eliminate amino acids from the diet

resources regarding infertility and family planning The older adolescent female will need education on infertility and family planning, because most women with Turner syndrome are infertile but spontaneous pregnancy may occur. If the adolescent wishes to have children in the future, information on alternative reproduction strategies should be introduced. There is no cure for Turner syndrome. The other responses are not specific to Turner syndrome.

The 14-year-old boy may have Klinefelter syndrome. Which findings should the nurse expect? Select all that apply. shorter than average for his age significant amount of breast tissue smaller than normal scrotum long trunk and short legs diagnosis of dyslexia

significant amount of breast tissue smaller than normal scrotum diagnosis of dyslexia Boys with Klinefelter syndrome may have learning disabilities, underdeveloped testes, and gynecomastia. Typically, they have long legs and short torsos and are taller than their peers.

When teaching about Turner's syndrome, what should the nurse include? use of hormone therapy to prevent infertility treatment for gynecomastia long-term effects of decreased intellectual ability timing and use of growth hormone

timing and use of growth hormone Growth hormone is used once the child has fallen below the 5th percentile on the growth charts. Hormone therapy will be used to initiate puberty, not to prevent infertility. Gynecomastia is a common finding in children suffering from Klinefelter, not Turner's, syndrome.

What is the main purpose of nurses having basic genetic knowledge? to advocate for a cure for genetic disorders to understand all genetic disorders, allowing for improved quality of life to provide support and education to families to ensure proper medical diagnosis

to provide support and education to families The purpose of the nurse knowing about basic genetics is that it helps her to provide support and education to families. Nurses can advocate for a cure, but this is not the main purpose of attaining basic knowledge of genetics. Providing a medical diagnosis is beyond the scope of practice for a nurse. It would be impossible for the nurse to understand all genetic disorders; it is more reasonable for the nurse to be familiar with the most common genetic disorders.