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

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. Fragile X syndrome is the most common cause of cognitive impairment, and clients need help progressing through developmental stages. Caregivers can experience significant stress when a child has a genetic disorder and need to speak their concerns and be informed of support groups. There are no dietary concerns for clients with Fragile X syndrome. Growth hormone and estrogen therapy would be indicated for clients with Turner syndrome.

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.

-Nasal stuffiness contributes to the difficulty of sucking and breathing during feeding. -Poor muscle control contributes to the feeding difficulties. Infants with trisomy 21 (Down syndrome) often have poor feeding due to poor muscle control and stuffy noses. Feeding improves when the child gains tongue control. The nasal bone is underdeveloped, making feeding difficult. Consults with speech and occupational therapy are beneficial. Breastfeeding is encouraged for the infant.

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. Cognitive impairment, short stature, lack of muscle tone, and low-set ears are all symptoms that relate to trisomy 21. These symptoms do not completely fit any other genetic disorder. Developmental screening and educating caregivers are important to do for a client with trisomy 21. The client does not demonstrate any signs of abuse. Short stature could relate to Turner syndrome, but the cognitive impairment does not. With Turner syndrome, growth hormone is a therapy that can be used. Phenylketonuria can relate to cognitive impairment, but not the physical characteristics, so a diet low in protein would not be indicated.

A client has a diagnosis of type-1 neurofibromatosis. As part of the intake assessment protocol for the facility, the clinical educator is teaching the care staff about the diagnosis. Which statement most accurately conveys an aspect of neurofibromatosis?

"Her diagnosis puts her at higher risk of developing a malignant neoplasm." NF-1 is associated with increased risk of malignant neoplasm. The lesions may be painful to the client and the disease is an autosomal dominant disorder. Photosensitivity is not noted as a complication of type-1 neurofibromatosis.

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 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 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." 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.

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 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.

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 parent of a child with trisomy 21 (Down syndrome) will be referred for needed therapy consults, including speech, physical and occupational therapy. Social isolation and shyness is a concern for a child diagnosed with Fragile X syndrome. Children with Down syndrome often have a warm, cheery personality. Testosterone replacement and inability to reproduce are noted in children with Klinefelter syndrome.

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." 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." 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 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." 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.

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)." 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." 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 assessing a 1-year-old child with Down syndrome at a routine well-child visit. Which statement by the parents should the nurse 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. 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 caring for an infant with Fragile X syndrome. The parents of the client ask what to expect for their child. Which response(s) by the nurse is accurate? Select all that apply.

"Intellectual disability can occur." "Developmental delays are likely." "Your child will be able to have children later in life." Individuals with Fragile X can reproduce, and it is the most common inherited cause of intellectual disability. A delay in meeting developmental milestones may be the first assessment finding. Middle ear infections relate to Turner syndrome. A low-protein diet would be relevant to a child with phenylketonuria.

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." The karyotype results indicate trisomy 21. 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. Support groups are available and would be important to discuss but would not best answer the client's question. Foods high in phenylalanine pertains to phenylketonuria, and growth hormone therapy pertains to Turner syndrome.

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?

"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 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." Children with Down syndrome will accomplish eating with their hands by about 12 months of age. They will develop the skills of typical children, but at an older 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.

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

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 caring for an 8-year-old girl who has just been diagnosed with fragile X syndrome. Which intervention is the highest priority?

Assess the family's ability to learn about the disorder. The priority intervention is to assess the family's ability to learn about the disorder. The family needs time to adjust to the diagnosis and be ready to learn for teaching to be effective. Screening to determine current level of functioning, explaining the care required as a result of the disorder, and educating the family about available resources are interventions that can be taken once the family is ready.

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 Based on the child just being born and the parents dealing with 3 other children, the highest priority is "Deficient knowledge regarding trisomy 21" followed by "Interrupted family processes."

The nurse is caring for a client with trisomy 21 scheduled for operative repair of a cardiac defect. Which intervention is most unique to this client?

Ensure cervical spine positioning precautions. With trisomy 21 the nurse needs to ensure cervical spine positioning precautions during procedures with anesthesia or surgery. Performing a time-out is important for all surgeries with all clients. Monitoring heart rate and rhythm is important for any client receiving operative repair of a cardiac defect. Administering prophylactic antibiotics is important for surgeries for any client.

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 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 parent of a newborn diagnosed with Turner syndrome asks the nurse about the treatment that will be required for their newborn. The nurse should educate the parents on the primary treatments used in the treatment of Turner syndrome, which includes _________ and _________.

Growth hormone and estrogen therapy 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.

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. 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.

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. 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.

Which statement about nondisjunction of a chromosome is true?

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.

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 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. 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?

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 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. Individuals with Down syndrome are at risk for atlantoaxial instability. Indications of spinal cord compression include neck pain, unusual posturing, and change in gait. Immediate attention is required if these findings are noted. Cafe-au-lait and freckling of the armpit and groin (not the nasal bridge) are a concern with neurofibromatosis, not Down syndrome. An enlarged tongue is an expected sign of Down 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 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.

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 This client exhibits several classic signs of Marfan syndrome, an autosomal dominant genetic disorder of connective tissue. The other clients show signs of heart disease most likely caused by multiple factors.

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 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.

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 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.

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 Children with Down syndrome have a low metabolic rate and constipation. A high fiber, low calorie meal would be bean soup and fresh fruit. Pasta is a low fiber food. Pizza is a low fiber food and typically high in calories. Fried fish and macaroni and cheese would be high in calories and low in fiber.

The nurse is caring for a 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 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.

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

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 a client newly diagnosed with Fragile X syndrome. Which assessment finding supports this diagnosis?

gaze aversion The first signs of Fragile X syndrome are developmental delays, anxiety in crowds, problems with sensation or being touched, and gaze aversion. Vision impairment can occur in multiple genetic disorders, and a heart murmur would be more likely to occur in Down syndrome. Short stature is a feature of several disorders including Down syndrome and Turner syndrome.

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

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.

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

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

orange slices PKU is an inborn error of metabolism that requires foods low in phenylalanine, aspartame, and protein. Orange slices or fruits and vegetables are appropriate recommendations. Eggs, dairy, meat, and poultry products should be avoided.

Which condition is a part of normal newborn screening?

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

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 Facial nevus or port wine stain is most often seen on the forehead and on one side of the face. Café-au-lait spots are commonly associated with neurofibromatosis. Tumors are associated with tuberous sclerosis and neurofibromatosis. Pigmented nevi are associated with neurofibromatosis.

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 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.

The nurse is preparing a teaching session for the parents of a 1-month-old infant who has been diagnosed with Turner syndrome. Which factor should the nurse include in this teaching session?

timing and use of growth hormone Growth hormone is a primary treatment to help ensure proper growth and development. Hormone therapy will be used to initiate puberty, not to prevent infertility. Gynecomastia is a common finding in children suffering from Klinefelter, not Turner, syndrome.

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

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.