The Point Chapter 49 Nursing Care of the Child with an Alteration in Genetics

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A nurse is assessing a child and finds several major congenital anomalies. What might the nurse find? Select all that apply. a. Limb asymmetry b. Flat occiput c. Cardiac conduction disorder d. Cleft lip e. Overlapping digits f. Widow's peak

a. Limb asymmetry c. Cardiac conduction disorder d. Cleft lip Rationale: Major congenital anomalies include cardiac conduction disorders, limb asymmetry, and cleft lip. Minor anomalies include flat occiput, widow's peak, and overlapping digits.

A nurse is assessing a child diagnosed with Sturge-Weber syndrome. What finding would the nurse expect to find when assessing the skin? a. Café-au-lait spots b. Tumors c. Port wine stain d. Pigmented nevi

c. Port wine stain Rationale: 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 cares for a newborn diagnosed with choanal atresia. What nursing intervention(s) will be important for the nurse to implement? Select all that apply. a. Elevate the head of the bed b. Allow nonnutritive sucking c. Insert a peripheral IV d. Insert a nasogastric tube d. Initiate aspiration precautions

a. Elevate the head of the bed b. Allow nonnutritive sucking c. Insert a peripheral IV d. Initiate aspiration precautions Rationale: Choanal atresia is diagnosed when there is blocked or narrowed passages from the nose to the throat. It is seen as part of CHARGE syndrome. It can cause respiratory difficulties and aspiration in the newborn. Elevating the head of the bed and initiating aspiration precautions should be implemented. Because of blockages in the throat, the newborn may not be able to feed. A pacifier can be used to help with sucking needs. A peripheral IV should be started for fluids and the likelihood that the newborn will need emergent surgery. A nasogastric tube would be contraindicated.

An infant was born with a genetic condition. The nurse is obtaining a neonatal health history from the parents. Which question(s) will the nurse ask the parents? Select all that apply. a. "Has your infant ever experienced a seizure?" b. "Do you ever feel like your infant's muscle tone is not good?" c. "Did your infant require staying under the warmer or in an incubator to stay warm?" d. "Was your infant small for a term pregnancy?" e. "Have you had problems feeding your infant?"

a. "Has your infant ever experienced a seizure?" b. "Do you ever feel like your infant's muscle tone is not good?" c. "Did your infant require staying under the warmer or in an incubator to stay warm?" e. "Have you had problems feeding your infant?" Rationale: A focused neonatal history can be helpful in identifying the cause of a genetic condition. This history should include factors such as the infant having difficulty in adapting to extrauterine life (temperature and heart rate instability and poor feeding), being large for gestational age without a reason (such as maternal diabetes), being hypotonic or hypertonic, seizures, and having persistent hypobilirubinemia. The neonatal history should also include whether the infant has had an abnormal newborn screening or if is hearing impaired.

A nurse is providing care for a pregnant woman who will be scheduled for diagnostic testing. Place the tests in the order in which they would most likely be scheduled, starting with the earliest one. a. Chorionic villi sampling b. Ultrasound c. Quadruple screen d. Fetal nuchal translucency

a. Chorionic villi sampling d. Fetal nuchal translucency c. Quadruple screen b. Ultrasound Rationale: The first test scheduled would be chorionic villi sampling, usually between 7 and 11 weeks' gestation. Then a fetal nuchal translucency test would be done at 11 to 14 weeks' gestation, followed by a quadruple screen at 16 to 19 weeks' gestation and finally an ultrasound between 18 and 20 weeks' gestation.

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? a. Educating parents about how to deal with seizures b. Describing the importance of a high-fiber diet c. Explaining developmental milestones to parents d. Promoting annual vision and hearing tests

a. Educating parents about how to deal with seizures Rationale: It is unlikely that the parents will need to know how to deal with seizures. It will be helpful to provide parents with growth and developmental milestones that are unique to children with Down syndrome. More than 60% of children with Down syndrome have hearing loss, so promoting annual vision and hearing tests is the priority intervention. Special diets are usually not necessary; however, a balanced, high-fiber diet and exercise are important because constipation is frequently a problem.

The nurse is assessing an infant diagnosed with trisomy 13. What would the nurse expect to find? Select all that apply. a. Extra digits b. Small eyes c. Fingernail hypoplasia d. Prominent occiput e. Short sternum f. Wide sagittal suture

a. Extra digits b. Small eyes f. Wide sagittal suture Rationale: An infant with trisomy 13 would exhibit wide sagittal suture and fontanels, small eyes, and extra digits. Short sternum, fingernail hypoplasia, and prominent occiput are associated with trisomy 18.

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? a. Measure the height b. Conduct eye screening examination c. Obtain blood pressure d. Auscultate heart sounds

a. Measure the height Rationale: Turner syndrome is caused by an abnormality in the sex chromosome. The female will have only one X chromosome. The syndrome is associated with many problems such as cardiovascular, thyroid, skeletal, and renal systems and cognitive impairment. Most children are diagnosed at birth or in early childhood when there is slow growth or growth failure. It may also not be diagnosed until the pubertal growth spurt fails to occur. 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. It is started when the child's growth is less than 5% on the growth curve. Auscultating heart sounds should be done due to the possibility of cardiovascular problems but the problems associated with the syndrome are congenital defects, not unusually issues like murmurs or heart failure. Renal problems can occur with the syndrome, so blood pressure needs to be assessed each visit. Vision problems can also occur with the syndrome so periodic vision screening should be done. Not every child will have multiple defects with the syndrome, but every child will have growth retardation. This makes height measurement the most important.

The nurse is preparing a teaching plan for the parents of a child diagnosed with achondroplasia. What information would the nurse include? Select all that apply. a. The child will probably average about 4 feet in height. b. Limb-lengthening surgeries may need to be done. c. Middle ear infections may be a persistent problem. d. Chest deformities will interfere with respiratory capacity. e. Growth hormone is the gold standard of treatment.

a. The child will probably average about 4 feet in height. b. Limb-lengthening surgeries may need to be done. c. Middle ear infections may be a persistent problem. Rationale: Children with achondroplasia have small stature, reaching an average adult height of 4 feet for men and women. Middle ear dysfunctions and infections are a persistent problem. Limb-lengthening surgery may be done. However, the use of growth hormone is controversial and experimental. Chest deformities are associated with Marfan syndrome, not achondroplasia.

The nurse is caring for a 6-year-old girl who has been diagnosed with neurofibromatosis. What is the priority intervention? a. Urging the parents to schedule yearly physical examinations b. Pointing out the child's positive attributes to her c. Referring the parents to a neurofibromatosis support group d. Providing postoperative care when tumors are removed

a. Urging the parents to schedule yearly physical examinations Rationale: Yearly physical examinations with blood pressure, scoliosis and developmental screening, ophthalmology, and neurologic examinations should be promoted. Most children with neurofibromatosis do not develop disfiguring tumors but rather have mild to moderate symptoms and lead normal lives. Postoperative care will be necessary if tumors need to be removed. The nurse does not need to build the child's self-esteem because the disease is not likely to have progressed very far at this age. The family may benefit from a support group, but the child's physiologic needs are more important.

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

b. "We could have also had a girl with male characteristics." Rationale: 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 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? a. Correct the low potassium b. Administer calcium c. Correct the low magnesium d. Administer phosphate binders

b. Administer calcium Rationale: 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.

In the newborn nursery, the nurse assesses a newborn and sees the ears are low-set. What action will the nurse take first? a. Check the family history for genetic conditions b. Assess for additional anomalies c. Document the findings d. Report the finding to the health care provider

b. Assess for additional anomalies Rationale: 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 the 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.

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? a. Decisional conflict b. Deficient knowledge regarding trisomy 21 c. Risk for delayed growth and development d. Interrupted family processes

b. Deficient knowledge regarding trisomy 21 Rationale: 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 assessing a 7-year-old girl with Down syndrome. Which would the nurse be least likely to assess? a. The child is significantly underweight. b. Inspection finds the nasal passages clear and open. c. Auscultation reveals a definite heart murmur. d. Palpation indicates that the child may be constipated.

b. Inspection finds the nasal passages clear and open. Rationale: It is least likely that the nurse would find the child's nasal passages clear and open. Children with Down syndrome have chronically stuffy noses due to underdeveloped nasal bones. Typically, children with Down syndrome are overweight. Children with Down syndrome often experience digestive problems such as constipation. Children with Down syndrome often experience cardiac problems, such as a heart murmur.

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

b. Observation reveals a microcephalic head. Rationale: 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 nurse is describing the underlying cause of trisomy 21 to a group of parents, integrating knowledge that the disorder is due to: a. deletion. b. nondisjunction. c. duplication. d. translocation.

b. nondisjunction. Rationale: Trisomy 21 is a disorder caused by nondisjunction or error in cell division. It is not due to the loss of a portion of the chromosome (deletion), an extra segment being present (duplication), or transfer of one part of the chromosome to another (translocation).

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? a. "He'll be crawling all over the house by 9 months of age." b. "He will be speaking in sentences at 21 months of age." c. "You can expect him to eat with his hands by age 12 months." d. "Bladder training can be expected by 2.5 to 3 years of age."

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

A child with Down syndrome is having a well child check-up. What is the best way for the nurse to assess this child's developmental milestones? a. Assess the age at which each milestone occurred b. Have the child demonstrate psychomotor skills c. Assess the sequence of the milestones d. Plot the milestones on a growth chart

c. Assess the sequence of the milestones Rationale: Children with Down syndrome are able to complete their developmental milestones, but the milestones are delayed as opposed to a child without the syndrome. It is important with assessing the milestones to look at the milestones in sequence rather than the age they were achieved. This is because each milestone represents a skill needed for the next stage of development. The child can demonstrate psychomotor skills to the nurse, but verbal skills and cognitive skills also need to be assessed. Growth charts are made for children with Down syndrome, but they are used to plot height and weight.

The nurse is assessing a 3-month-old boy with abnormally small vertebrae who has had a colostomy. Which assessment finding would suggest the child has VATER association? a. Observation reveals a large forehead and down-slanting eyelids. b. Examination discloses colobomas and microphthalmos. c. Assessment shows the child was born with only one arm. d. Palpation reveals caudal narrowing of the spinal canal.

c. Assessment shows the child was born with only one arm. Rationale: Being born with only one arm is an associated abnormality of VATER association (also referred to as VACTERL association, the additional C and L standing for cardiac and limb abnormalities). Colobomas and microphthalmos are symptoms of CHARGE syndrome. A large forehead and down-slanting eyelids are indicative of Apert syndrome. Caudal narrowing of the spinal canal is a symptom of achondroplasia.

A child with tuberous sclerosis is admitted to the hospital for elective surgery. What nursing intervention should the nurse complete first for the care of this child? a. Witness parents signature for surgical consent b. Insert a peripheral IV c. Provide seizure precautions d. Obtain cardiac clearance for surgery

c. Provide seizure precautions Rationale: Tuberous sclerosis is a syndrome where there are benign tumors in the brain. It can also affect the skin, heart, eyes, lungs and bones. Because of the tumors in the brain, the largest problem associated with the syndrome is seizures. Many times the syndrome is diagnosed because it is thought to be a seizure disorder. When a child with tuberous sclerosis is admitted to the hospital, it is important to initiate seizure precautions. Having the parents sign the surgical consent and establishing an IV are interventions to prepare the child for surgery. Cardiac clearance would not be needed unless the child had a known cardiac defect.

A nurse is preparing a presentation about genetic disorders in children. What cause would the nurse include as the most common inherited cause of intellectual disability? a. Klinefelter syndrome b. Trisomy 18 c. Turner syndrome d. Fragile X syndrome

d. Fragile X syndrome Rationale: Fragile X syndrome is the most common inherited cause of intellectual disability. Klinefelter syndrome is the most common chromosomal abnormality. It does not result in intellectual disability. With Turner syndrome, intellectual disability is unlikely, but some learning disabilities may be present. Although trisomy 18 does cause intellectual disability, it is a less common cause.

The parents of a 3-month-old bring their baby to the clinic with vomiting, irritability, and an eczema-like rash. The nurse notices that the infant's urine smells musty. The parents state the baby was born at home and this is the first time the infant has been seen by a health care practitioner. The nurse is aware that this infant is most likely exhibiting sign of which disorder? a. Biotinidase deficiency b. Achondroplasia c. Galactosemia d. Phenylketonuria

d. Phenylketonuria Rationale: Phenylketonuria (PKU) is a deficiency in a liver enzyme leading to inability to process the essential amino acid phenylalanine properly. Phenylalanine is found mostly in protein-containing foods such as meat and milk (including breast milk and formula). The disease has no symptoms at birth. Most cases are identified before symptoms are present due to newborn screening (PKU is screened for in all states). Since this child was born at home the disease was not diagnosed.

The nurse is performing an assessment of a 6-year-old girl with Turner syndrome. What finding would the nurse most likely assess? a. Short, stubby trident hands b. Enlarged thyroid gland c. Pectus carinatum d. Short stature and slow growth

d. Short stature and slow growth Rationale: Short stature and slow growth are frequently the first indication of Turner syndrome. While children with Turner syndrome are more prone to thyroid problems, these problems are not as likely to occur as in other symptoms. Pectus carinatum is typical of children with Marfan syndrome. Short, stubby trident hands are typical of achondroplasia.

A previously healthy newborn has become lethargic, is having feeding difficulties and is failing to thrive. An inborn error of metabolism is suspected. What intervention will the nurse perform prior to testing for these errors? a. Correct any hypoglycemia b. Feed the newborn a concentrated formula c. Send a specimen for genetic testing d. Stop the newborn's feedings

d. Stop the newborn's feedings Rationale: When a previously healthy newborn begins to show signs of deterioration, an inborn error of metabolism should be suspected. Testing should be done. Prior to the testing, it is important to stop all the newborn's feedings. Feedings can be restarted when the test results come back. Many inborn errors of metabolism require special formulas and diets. Feeding a concentrated formula would be contraindicated. Genetic studies may or may not be warranted, but they should be done after the diagnosis is made or if the parents request the testing. With inborn errors of metabolism the glucose is normally high, not low


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