PEDS PrepU - Nursing Care of the Child With an Alteration in Genetics

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 Explanation: Most inborn errors of metabolism are present and diagnosed at birth or shortly after birth. The family of the newborn diagnosed with an inborn error of metabolism will need health teaching and support. An inborn error of metabolism may not manifest until the adolescent, preschool, or toddler age, but it would be uncommon.

The nurse prepares a couple to have a karyotype performed. What describes a karyotype?

a visual presentation of the chromosome pattern of an individual Explanation: A karyotype is a photograph of a person's chromosomes aligned in order.

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 Explanation: The chances of having a child born with Down syndrome are higher with a maternal age older than 35 years. The other situations do not indicate a higher risk for a child born with Down syndrome.

Cystic fibrosis is an example of which type of inheritance?

autosomal recessive Explanation: Cystic fibrosis is an autosomal recessive inherited condition. Huntington disease would be an example of an autosomal dominant inherited condition. Hemophilia is an X-linked recessive inherited condition. Cleft lip is a multifactorial inherited condition.

The nurse is caring for a child with Down syndrome (trisomy 21). This is an example of which type of inheritance?

chromosome nondisjunction Explanation: Down syndrome occurs when an ovum or sperm cell does not divide evenly, permitting an extra 21st chromosome to cross to a new cell.

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

A client of African descent at 12 weeks' gestation states concern about her fetus having a genetic disorder. Which statement by the nurse is most appropriate?

"Does anyone in your or your partner's families have a genetic disorder?" Explanation: Assessing family history is important to help identify individuals and couples who could benefit from genetic testing for carrier identification. Although the client will have the option to be tested, the nurse would discuss the client's current concern and not dismiss it. The nurse would not state "to see if anything is wrong" because finding an indication of a disorder does not mean something is "wrong" with the fetus. The nurse would not initially discuss termination, nor dismiss the client to the health care provider to discuss.

A 45-year-old man has just been diagnosed with Huntington disease. He and his spouse are concerned about their four children. Based on the knowledge of patterns of inheritance, how will the nurse respond?

"Each of your children will have a 50% chance of inheriting the disease." Explanation: Huntington disease is an autosomal dominant disorder. A single gene in the heterozygous state is capable of producing the phenotype. In these cases, the abnormal or mutant gene overshadows the normal gene and the individual will demonstrate signs and symptoms of the disorder. The affected person usually has one affected parent. The defect occurs on the autosome not on the X chromosome; therefore, autosomal dominant inherited conditions affect female and male family members equally and follow a vertical pattern of inheritance in families. A person who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome pair. Each of that person's offspring has a 50% chance of inheriting the gene mutation for the condition and a 50% chance of inheriting the normal version of the gene.

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." Explanation: 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. Twice weekly brushing is too infrequent. Dental visits should be every 6 months.

A couple has just learned that their son will be born with Down syndrome. The nurse shows a lack of understanding when making which statement?

"I will alert your entire family about this so you don't have to." Explanation: It is necessary to maintain confidentiality at all times, which prevents health care providers from alerting family members about any inherited characteristic unless the family member has given consent for the information to be revealed.

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." Explanation: Children with Down syndrome 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 speaking with a client with cystic fibrosis. The client's partner has tested negative for carrying the cystic fibrosis mutation. The client asks if they were to have children, how many would potentially have cystic fibrosis. What is the best response by the nurse?

"If your partner does not have the cystic fibrosis gene mutation, none of your children will have the disease." Explanation: For a person to have cystic fibrosis, the person must inherit two copies of the cystic fibrosis transmembrane conductance regulator gene that contains the mutation. If a person with cystic fibrosis chooses a sexual partner without the genetic mutation, none of their children will inherit two copies, and as such, none of the children will have the disease. All of their children would be carriers of a recessive gene for the disorder, inheriting a mutated gene from the parent with cystic fibrosis

A community health nurse is visiting a 16-year-old new mother. The nurse explains to the client and her mother the genetic screening that is required by the state's law. The client asks why it is important to have the testing done on the infant. What is the nurse's best response?

"PKU, congenital hypothyroidism, and galactosemia are conditions that could result in disability or death if untreated." Explanation: The first aim is to improve management, that is, identify people with treatable genetic conditions that could prove dangerous to their health if left untreated. The other answers are incorrect because genetic testing does not determine the rate of infectious disease. The other answers do not adequately explain the rationale for newborn testing.

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." Explanation: Prenatal screening provides a useful, but incomplete, picture of fetal health; umbilical sampling and amniocentesis are common methods of screening. Fetal tissue biopsy is a rarely-used screening method, and a couple need not belong to a high-risk group to benefit from prenatal screening. Abnormalities do not usually necessitate termination.

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." Explanation: 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.

Which statement by the nurse accurately describes the term phenotype?

"The individual's outward appearance" Explanation: Phenotype is the outward characteristic of an individual. The genetic makeup of an individual is a genotype. A somatic cell is an individual cell that combines with others to form an organism. Phenotype can be determined by both homozygous genes and heterozygous genes.

The parent of an infant born with trisomy 18 says to the nurse, "I am so lost...I cannot even think about my baby not being healthy." Which is the best response from the nurse?

"This is a sad time for you. I will sit with you quietly in case you want to talk." Explanation: The prognosis is poor for children with trisomy 18 and therapeutic communication involves the nurse being available to offer support. The nurse should not express an understanding of a parent's situation, because 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 should not 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)." Explanation: 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 help you meet your child's specific needs and to encourage development." Explanation: 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.

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." Explanation: An autosomal recessive disorder requires two abnormal genes to outwardly express the disorder. Recessive disorders have a lower risk of phenotyping than dominant disorders. X-linked and autosomal disorders are two different classifications.

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." Explanation: 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.

Upon assessing the newborn, the nurse notes the child has an extra digit. For which genetic concerns would the nurse further asses the newborn? Select all that apply.

- trisomy 18 - VATER association Explanation: Extra digits (fingers or toes) may be assessed in children with trisomy 13 and VATER association. The other disorders typically do not present with extra digits.

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 _____ and ________.

1. growth hormone 2. estrogen therapy Explanation: The primary treatments for Turner syndrome is growth hormone and estrogen. Even though children with Turner syndrome produce growth hormone, it is given exogenously to increase height. The reproductive system in children with Turner syndrome do not function properly. Estrogen is administered to prompt and maintain sexual development. Corticosteroids, antibiotics, desmopressin, nor thyroid medications are used in the treatment of Turner syndrome.

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

47, XXY Explanation: 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 cares for multiple clients planning to have children. Which client will the nurse identify as priority for needing a referral for prenatal genetic testing?

A male client with family history of sickle cell disease Explanation: The nurse would refer the male client with a family history of a sickle cell disease, a genetic disorder, for prenatal genetic testing. Women older than 35 years of age and men older than 45 years of age should be referred. However, age is not priority over a known family history. Women with diabetes need not necessarily be referred for genetic testing.

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?

Assess the infant further for an inborn error of metabolism. Explanation: If an infant who was otherwise healthy begins to show signs of deterioration, the nurse would further assess for an inborn error of metabolism. If a diagnosis of inborn error of metabolism was confirmed, a dietary consult would be needed to educate the family on the appropriate diet, but not specifically for increasing the child's appetite. Position changes and schedule changes are beneficial for a child with an inborn error of metabolism.

A pregnant woman has a child at home who has been diagnosed with neurofibromatosis. She asks the nurse what she should look for in the new baby that would indicate that it also has neurofibromatosis. What sign should the nurse instruct the woman to look for in the new baby?

Café-au-lait spots Explanation: Physical assessment may provide clues that a particular genetic condition is present in a person and family. Family history assessment may offer initial guidance regarding the particular area for physical assessment. For example, a family history of neurofibromatosis type 1, an inherited condition involving tumors of the central nervous system, would prompt the nurse to carry out a detailed assessment of closely related family members. Skin findings such as café-au-lait spots, axillary freckling, or tumors of the skin (neurofibromas) would warrant referral for further evaluation, including genetic evaluation and counseling. A family history of familial hypercholesterolemia would alert the nurse to assess family members for symptoms of hyperlipidemias (xanthomas, corneal arcus, abdominal pain of unexplained origin). As another example, increased urination could indicate type 1 diabetes. Projectile vomiting is indicative of pyloric stenosis.

Nondisjunction of a chromosome results in which diagnosis?

Down syndrome Explanation: When a pair of chromosomes fails to separate completely (nondisjunction), the resulting sperm or oocyte contains two copies of a particular chromosome. Nondisjunction can result in a fertilized egg having trisomy 21 or Down syndrome. Huntington disease is one example of a germ-line mutation. Duchenne muscular dystrophy, an inherited form of muscular dystrophy, is an example of a genetic disease caused by structural gene mutations. Marfan syndrome is a genetic condition that may occur in a single family member as a result of spontaneous mutation.

A pregnant woman undergoes a triple screen at 16 to 18 weeks' gestation. What would the nurse suspect if the woman's estriol and alpha-fetoprotein levels are decreased with high hCG levels?

Down syndrome Explanation: Decreased levels might indicate Down syndrome or trisomy 18. Sickle cell anemia may be identified by chorionic villus sampling. Levels would be increased with cardiac defects, such as tetralogy of Fallot. It does not detect respiratory disorders.

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 Explanation: Both phenylketonuria and galactosemia are hereditary disorders in which the body cannot have milk. Maple syrup urine disease is an inborn error of metabolism of the branched chain amino acid. Congenital hypothyroidism is an error with the thyroid gland.

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. Explanation: Children with Sturge-Weber syndrome will have a facial nevus, or port-wine stain, most often seen on the forehead and one eye. While the child may experience seizures, retardation, and behavior problems, they are not definitive findings.

A couple wants to start a family. They are concerned that their child will be at risk for cystic fibrosis because they each have a cousin with cystic fibrosis. They are seeing a nurse practitioner for preconceptual counseling. What would the nurse practitioner tell them about cystic fibrosis?

It is an autosomal recessive disorder. Explanation: Cystic fibrosis is autosomal recessive. Nurses also consider other issues when assessing the risk for genetic conditions in couples and families. For example, when obtaining a preconception or prenatal family history, the nurse asks if the prospective parents have common ancestors. This is important to know because people who are related have more genes in common than those who are unrelated, thus increasing their chance for having children with autosomal recessive inherited condition such as cystic fibrosis. Mitochondrial inheritance occurs with defects in energy conversion and affects the nervous system, kidney, muscle, and liver. X-linked inheritance, which has been inherited from a mutant allele of the mother, affects males. Autosomal dominant is an X-linked dominant genetic disease.

Which statement about nondisjunction of a chromosome is true?

It is failure of the chromosomal pair to separate. Explanation: 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.

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. Explanation: 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 reveals a microcephalic head. Explanation: 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.

A pregnant woman of Jewish descent comes to the clinic for counseling and tells the nurse that she is worried her baby may be born with a genetic disorder. Which disease does the nurse identify to be a risk for this client's baby based on the family's ancestry?

Tay-Sachs disease Explanation: Sickle cell anemia occurs most often in African Americans. Tay-Sachs disease occurs most often in people of Jewish ancestry. Beta-thalassemia is a blood dyscrasia that occurs frequently in families of Greek or Italian heritage. Down syndrome is not attributed to Jewish ancestry.

A woman with both heart disease and osteoarthritis has come to the genetics clinic for genetic screening. What would the nurse know about these two diseases?

They are multifactorial. Explanation: Genomic or multifactorial influences involve interactions among several genes (gene-gene interactions) and between genes and the environment (gene-environment interactions), as well as the individual's lifestyle.

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

dietitian Explanation: 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 infant is not harmed. The other referrals are important and should also be addressed soon after birth.

A nurse is interviewing a couple who has come for a preconception visit. The couple asks the nurse about inheritance and how it occurs, When describing the concept of genes and inheritance, the nurse explains that a gene that is expressed when paired with another gene for the same trait is called:

dominant. Explanation: A dominant gene is one that will be expressed when paired with a like gene. Many genes are dominant in their action over others. When dominant genes are paired with nondominant (recessive) ones, the dominant genes are always expressed in preference to the recessive genes (a gene for brown eyes, for example, is dominant over one for blue eyes; a child born with a gene for brown eyes and a recessive one for blue eyes will have brown eyes).

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 Explanation: 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.

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

hypogonadism and gynecomastia Explanation: 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. The corresponding signs and symptoms listed in the other answer selections are not signs and symptoms of the disorder.

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 Explanation: 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 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 Explanation: Children with phenylketonuria will have a musty or mousy odor to their urine, as well as an eczema-like rash, irritability, and vomiting. Increased reflex action and seizures are typical of maple sugar urine disease. Signs of jaundice, diarrhea, and vomiting are typical of galactosemia. Seizures are a sign of biotinidase deficiency or maple sugar urine disease.

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

resources regarding infertility and family planning Explanation: The older adolescent will need education on infertility and family planning, because most clients 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.

Girls with Turner syndrome will usually exhibit:

short stature. Explanation: Girls with Turner syndrome usually have a single X chromosome, causing them to have short stature and infertility. Persons with sickle cell anemia have painful joints. Color blindness occurs in persons diagnosed with Huntington disease, and they may exhibit chorea-like movements. Progressive dementia occurs in early-onset familial Alzheimer disease.

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

to provide support and education to families Explanation: 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.