PEDS CH 32 ?'s

When assessing newborns for chromosomal disorders, which assessment would be most suggestive of a problem? a) Low-set ears b) Bowed legs c) Short neck d) Slanting of the palpebral fissure

A A number of common chromosomal disorders, such as trisomies, include low-set ears.

A pregnant client has heard about Down syndrome and wants to know about the risk factors associated with it. Which of the following would the nurse include as a risk factor? a) Advanced maternal age b) Recurrent miscarriages c) Advanced paternal age d) Family history of condition

A Advanced maternal age is one the most important factors that increases the risk of an infant being born with Down syndrome. Down syndrome is not associated with advanced paternal age, recurrent miscarriages, or family history of Down syndrome.

Girls with Turner Syndrome will usually exhibit a) short stature b) progressive dementia c) chorealike movements d) painful joints

A 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 chorealike movements. Progressive dementia occurs in early-onset familial Alzheimer's disease.

A parent asks why a physical therapist is needed for the 6-month-old child diagnosed with Down syndrome. What is the best response by the nurse? a) "To optimize the child's development and functioning" b) "The earlier the intervention, the more likely we are to cure the problem." c) "To prevent contractures" d) "To ensure that the child meets all developmental milestones on time"

A Interventional therapy is started early to promote the child's development and optimize functioning. The Down syndrome child usually meets developmental milestones at a slower pace. There is no cure for genetic disorders. Range-of-motion activities can prevent contractures; Down syndrome does not require physical therapy.

A couple has just learned that their son will be born with Down's syndrome. The nurse shows a lack of understanding when making which of the following statements? a) "I will alert your entire family about this so you don't have to." b) "We have counseling services available, and I recommend them to everyone facing these circumstances." c) "I will support you in any decision that you make." d) "I will give you as much information as I can about this condition."

A It is necessary to maintain confidentiality at all times, which prevents healthcare 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 interviewing parents after their newborn was diagnosed with a genetic disorder. Which statements by the mother is associated with risk factors of genetic disorders? Select all that apply. a) "My sister's baby was born with trisomy 18." b) "He is our first child." c) "My husband is 55 years old." d) "Our alpha-fetoprotein came back negative when I was 18 weeks pregnant." e) "Our obstetrician told us that I wasn't making enough amniotic fluid during this pregnancy."

A C E The following are risk factors for genetic disorders: oligohydramnios, paternal age over 50, a family history of genetic disorders, positive alpha-fetoprotein test, and multiple births

The mother of a 9-year-old child with Down syndrome discusses the childs language abilities. The nurse is not surprised to learn which information about the childs language development? A. Can take turns during conversation B. Has good grammar C. Can speak a foreign language D. Has difficulty in carrying on a conversation

ANS: A Social language involves maintaining a conversation on a specific topic and taking turns during the conversation. Children with Down syndrome generally have good social language. The language development of children with Down syndrome involves difficulty with grammar but strength in social usage. It would not be expected for children with Down syndrome to be characterized as typically knowing a foreign language. Children with Down syndrome have a general strength in social language such as greeting others and carrying on a conversation in a give-and-take manner and have social skills that exceed expected skills on the basis of intellectual capacity

19. Parents have learned that their 6-year-old child is autistic. The nurse may help the parents to cope by explaining that the child will: A. have abnormal ways of interacting with other children and adults. B. outgrow the condition by early adulthood. C. have average social skills. D. probably have age-appropriate language skills

ANS: A Abnormal interaction with people is one of the several characteristics of autism. No evidence supports the belief that autism is outgrown. Autistic children have abnormal ways of relating to people (social skills). Speech and language skills are usually delayed in autistic children

What is the best intervention when a child with autism is hospitalized? A. Limit the individuals who enter the childs room. B. Perform all of the childs activities of daily living for her. C. Make sure the nurses know this child may be violent. D. Assign the strongest nurse to control the child

ANS: A The child with autism is often unable to tolerate the slightest change in routine. Limiting who enters the childs room to those knowledgeable about the childs routine will facilitate the childs adaptation to the hospital environment. The most important nursing consideration when planning care for a child with autism is to assign the child to a nurse who is familiar with the childs routine and to follow that routine. The child should be encouraged to perform toileting and self- care activities as she normally would if she were not in the hospital. There is no indication that the child will be violent. Limiting the number of individuals in contact with the child and maintaining a routine will decrease any chance of violence. Strength should not be a consideration in assignments.

An autistic child is hospitalized with asthma. The nurse should plan care so that the: A. parents expectations are met. B. childs routine habits and preferences are maintained. C. child is supported through the autistic crisis. D. parents need not be at the hospital.

ANS: B Children with autism are often unable to tolerate even slight changes in routine. Focus of care is on the childs needs rather than on the parents desires. Autism is a life-long condition. The presence of the parents is almost always required when an autistic is hospitalized

A parent asks the nurse why a developmental assessment is being conducted for a child during a routine well-child visit. The nurse answers based on the knowledge that routine developmental assessments during well-child visits are: A. not necessary unless the parents request them. B. the best method for early detection of cognitive disorders. C. frightening to parents and children and should be avoided. D. valuable in measuring intelligence in children

ANS: B Early detection of cognitive disorders can be facilitated through assessment of development at each well-child examination. Developmental assessment is a component of all well-child www.testbanktank.com examinations. Developmental assessments are not frightening when the parent and child are educated about the purpose of the assessment and are not intended to measure intelligence.

The parents of a child born at 36 weeks of gestation who had respiratory problems requiring 3 days of oxygen therapy are concerned that the infant may have an intellectual impairment. The best nursing statement to the parents is which of the following? A. A diagnosis of intellectual impairment is not made until the child enters school and experiences academic failure. B. Routine assessment of development during pediatric visits is the best method of early detection. C. The baby is not at risk for an intellectual impairment. D. Tests for intellectual impairments are not reliable for children younger than 3 year

ANS: B Routine assessment of development from birth is the best method for early detection of problems. Intellectual impairment may be detected before school age. The baby may be at risk for an intellectual impairment as a result of poor oxygenation. The Denver Developmental Screening test may be unreliable for children younger than 3 years, but other assessment tools are available. Several neuropsychological tests are available

14. Self-injury, fecal smearing, and severe temper tantrums in a preschool child are symptoms of: A. mild intellectual impairment. B. severe intellectual impairment. C. psychosocial deprivation. D. separation anxiety

ANS: B Self-injury, fecal smearing, and severe temper tantrums in a preschool child are symptoms of severe intellectual impairment. Mild intellectual impairment is characterized by social isolation or depression. Psychosocial deprivation may be a cause of intellectual impairment. The symptoms listed are characteristic of severe intellectual impairment. Symptoms of separation anxiety include protest, despair, and detachment.

A nurse is giving a parent information about autism. Which statement made by the parent indicates understanding of the teaching? A. Autism is characterized by periods of remission and exacerbation. B. The onset of autism usually occurs before 2 1/2 years of age. C. Children with autism have imitation and gesturing skills. D. Autism can be treated effectively with medication.

ANS: B The onset of autism usually occurs before 30 months of age. Autism does not have periods of remissions and exacerbations. Autistic children lack imitative skills. Medications are of limited use in children with autism.

A parent whose child has been diagnosed with a cognitive deficit should be counseled that intellectual impairment: A. is usually due to a genetic defect. B. may be caused by a variety of factors. C. is rarely due to first-trimester events. D. is usually caused by parental intellectual impairment.

ANS: B There is a multitude of causes for intellectual impairment. In nearly half of the cases, a specific cause has not been identified. Only 5% of children with intellectual impairment are affected by a genetic defect. One-third of children with intellectual impairment are affected by first-trimester events. Intellectual impairment can be transmitted to a child only if the parent has a genetic disorder

1. Which of the following treatment guidelines would be contraindicated when counseling the family of an infant with fragile X syndrome? Select all that apply. A. Advise genetic testing for family members. B. Delay speech therapy until the child is 2 years of age. C. Educate the family that their child will probably have normal intelligence. D. Refer the family to an early intention program

ANS: B, C Speech therapy should be started in the first year of life and continued on an ongoing basis. Waiting until the child is 2 years old would not be appropriate. Children with fragile X syndrome have a high incidence of intellectual, language, and social dysfunctions. It is the most common inherited cause of mental retardation. Because fragile X syndrome is an X-linked recessive disorder, genetic testing is appropriate. Early intervention programs assess the child and develop a plan of intervention

Which should the nurse keep in mind when planning to communicate with a child who is autistic? a. The child has normal verbal communication. b. Expect the child to use sign language. c. The child may exhibit monotone speech and echolalia. d. The child is not listening if she is not looking a the nurse

ANS: C Children with autism have abnormalities in the production of speech such as a monotone voice or echolalia and inappropriate volume, pitch, rate, rhythm, or intonation. The child has impaired verbal communication and abnormalities in the production of speech. Some autistic children may use sign language, but it is not assumed. Children with autism often are reluctant to initiate direct eye contact

15. Throughout their life span, cognitively impaired children are less capable of managing environmental challenges and are at risk for which problem? A. Nutritional deficits B. Visual impairments C. Physical injuries D. Psychiatric problems

ANS: C Safety is a challenge for cognitively impaired children. Decreased capability to manage environmental challenges may lead to physical injuries. Nutritional deficits are related more to dietary habits and the caregivers understanding of nutrition. Visual impairments are unrelated to cognitive impairment. Psychiatric problems may coexist with cognitive impairment but are not environmental challenges

8. Which action is contraindicated when a child with Down syndrome is hospitalized? A. Determine the childs vocabulary for specific body functions. B. Assess the childs hearing and visual capabilities. C. Encourage parents to leave the child alone. D. Have meals served at the childs usual meal times

ANS: C The child with Down syndrome needs routine schedules and consistency. Having familiar people present, especially parents, helps to decrease the childs anxiety. To communicate effectively with the child, it is important to know the childs particular vocabulary for specific body functions. Children with Down syndrome have a high incidence of hearing loss and vision problems and should have hearing and vision assessed whenever they are in a healthcare facility. Routine schedules and consistency are important to children

4. An appropriate nursing diagnosis for a child with a cognitive dysfunction who has a limited ability to anticipate danger is: A. Impaired social interaction. B. Deficient knowledge. C. Risk for injury. D. Ineffective coping

ANS: C The nurse needs to know that limited cognitive abilities to anticipate danger lead to risk for injury. Impaired social interaction is indeed a concern for the child with a cognitive disorder but does not address the limited ability to anticipate danger. Because of the childs cognitive deficit, knowledge will not be retained and will not decrease the risk for injury. Ineffective individual coping does not address the limited ability to anticipate danger.

The father of a child recently diagnosed with developmental delay is very rude and hostile toward the nurses. This father was cooperative during the childs evaluation a month ago. What is the best explanation for this change in parental behavior? A. The father is exhibiting symptoms of a psychiatric illness. B. The father may be abusing the child. C. The father is resentful of the time he is missing from work for this appointment. D. The father is in the anger stage of the grief process

ANS: D After a child is diagnosed with a developmental delay, the family may feel grief. The grief process begins with a stage of disbelief and denial and then progresses to anger. It is not possible to determine that a parent is exhibiting symptoms of a psychiatric illness on the basis of a single situation. The scenario does not give any information to suggest child abuse. Although the father may have difficulty balancing his work schedule with medical appointments for his child, a more likely explanation for his behavior change is that he is grieving the loss of a normal child

18. The best setting for daytime care for a 5-year-old autistic child whose mother works is: A. private day care. B. public school. C. his own home with a sitter. D. a specialized program that facilitates interaction by use of behavioral methods

ANS: D Autistic children can benefit from specialized educational programs that address their special needs. Day care programs generally do not have resources to meet the needs of severely impaired children. To best meet the needs of an autistic child, the public school may refer the child to a specialized program. A sitter might not have the skills to interact with an autistic child.

Intense stress and isolation as a result of caring for a child with developmental disabilities often lead parents to: A. heightened parental achievement. B. overuse of the healthcare system C. overindulgence and obesity. D. child abuse

ANS: D Child abuse and developmental disabilities are often associated. Stress and isolation may hinder parents from reaching their potential. Parents may feel isolated from support and healthcare services. They report that professionals have limited understanding of their childrens needs. Although overindulgence and obesity may occur, the best answer is child abuse

Parents of a child with fragile X syndrome ask the nurse about genetic transmission of this syndrome. In response, the nurse correctly explains that fragile X syndrome is: a. most commonly seen in girls. b. acquired after birth. c. usually transmitted by the male carrier. d. usually transmitted by the female carrier

ANS: D The gene causing fragile X syndrome is transmitted by the mother. Fragile X syndrome is most common in males, is congenital, and is not transmitted by a male carrier.

The infant with Down syndrome is closely monitored during the first year of life for which condition? A. Thyroid complications B. Orthopedic malformations C. Dental malformation D. Cardiac abnormalities

ANS: D The high incidence of cardiac defects in children with Down syndrome makes assessment for signs and symptoms of these defects important during the first year. Infants with Down syndrome are not known to have thyroid complications. Orthopedic malformations may be present, but special attention is given to assessment for cardiac and gastrointestinal abnormalities

A group of students are reviewing information about major and minor congenital disorders. The students demonstrate understanding of the information when they identify what condition as a minor disorder? A) Webbed neck B) Omphalocele C) Cutaneous hemangioma D) Facial asymmetry

Ans: A A minor congenital anomaly is webbed neck. Omphalocele, cutaneous hemangioma, and facial asymmetry are considered major congenital anomalies.

A nursing student is preparing an oral presentation about autosomal recessive inheritance. What must occur for an offspring to demonstrate signs and symptoms of the disorder with this type of inheritance? A) Both parents must be heterozygous carriers. B) One parent must have the disease. C) The mother must be a carrier. D) The father must be affected by the disease.

Ans: A Autosomal recessive inheritance occurs when two copies of the mutant or abnormal gene in the homozygous state are necessary to produce the phenotype. In other words, two abnormal genes are needed for the individual to demonstrate signs and symptoms of the disorder. Both parents of the affected person must be heterozygous carriers of the gene (clinically normal, but carriers of the gene).

The nurse is caring for 3-day-old girl with Down syndrome whose mother had no prenatal care. What is the priority nursing diagnosis? A) Imbalanced nutrition, less than body requirements related to the effects of hypotonia B) Deficient knowledge related to the presence of a genetic disorder C) Delayed growth and development related to a cognitive impairment D) Impaired physical mobility related to poor muscle tone

Ans: A Children with Down syndrome may have difficulty sucking and feeding due to lack of muscle tone and the structure of their mouths and tongues. This can lead to poor nutritional intake and makes this the priority diagnosis. This also uses the strategy that physiologic needs have priority using Maslow's hierarchy of needs. Deficient knowledge due to lack of information about the disorder is a close second in priority, as the mother did not know of her daughter's condition before birth and has much to learn now. This child is at risk for a number of complications such as infection, heart disease, and leukemia and will require frequent assessment. Most children with Down syndrome experience some degree of intellectual disability, but early intervention will allow the child maximum development within the limits of the disease. Mobility is delayed but should not be a problem at this time.

What finding would lead the nurse to suspect that a child has Turner syndrome? A) Webbed neck B) Microcephaly C) Gynecomastia D) Cognitive delay

Ans: A Manifestations of Turner syndrome include webbed neck, low posterior hairline, wide-spaced nipples, edema of the hands and feet, amenorrhea, and absence of secondary sex characteristics, along with short stature and slow growth. Microcephaly is commonly associated with trisomy 13. Gynecomastia and cognitive delay are associated with Klinefelter syndrome.

When teaching a class about trisomy 21, the instructor would identify the cause of this disorder as: A) nondisjunction. B) X-linked recessive inheritance. C) genomic imprinting. D) autosomal dominant inheritance.

Ans: A Trisomy 21 is an example of a genetic disorder involving an abnormality in chromosomal number due to nondisjunction. X-linked recessive inheritance disorders, such as hemophilia and Duchenne muscular dystrophy, involve altered genes on the X chromosome. Genomic imprinting disorders, such as Prader-Willi syndrome, involve expression of only the maternal or paternal allele, with the other being inactive. Autosomal dominant inheritance disorders, such as neurofibromatosis and achondroplasia, involve a single gene in the heterozygous state that is capable of producing the phenotype, thus overshadowing the normal gene.

When the nurse is assessing a 2-day-old newborn and suspects Down syndrome, what factors would lead to this assessment? Select all that apply. A) Flat facial profile B) Downward slant to the eyes C) Large tongue compared to mouth D) Simian crease E) Epicanthal folds F) Rigid joints

Ans: A, C, D, E Common clinical manifestations of Down syndrome include flat facial profile, upward slant to the eyes (oblique palpebral fissures), tongue that is large in comparison to the mouth size, simian, crease, epicanthal folds, and loose joints.

A nursing instructor is preparing a class discussion on the benefits and drawbacks associated with genetic advances and the Human Genome Project. What would the instructor address as a potential problem? A) Early detection possibilities B) Risk profiling C) Focus on causes D) Rapid diagnosis

Ans: B Although current and potential applications of the Human Genome Project to health care are numerous, risk profiling presents a potential problem. Risk profiling based on an individual's unique genetic makeup can be used to tailor prevention, treatment, and ongoing management of health conditions, but it will raise issues associated with client privacy and confidentiality related to workplace discrimination and access to health insurance. Early detection possibilities, focus on causes, and rapid diagnosis are benefits to the information gained from the Human Genome Project.

The nurse is obtaining the health history for a 15-month-old boy from the parents. The child is not yet speaking. Which finding would be eliminated as a risk factor for a possible genetic disorder? A) The child is male and Caucasian. B) The grandmother and father have hearing impairments. C) The child was a breech delivery 3 weeks early. D) The mother was 37 when she became pregnant

Ans: B Being male and Caucasian are risk factors for acute lymphoblastic leukemia, not genetic disorders. The fact that the child's grandmother and father have hearing impairments suggests a genetic disorder. The facts that the mother was 37 when she became pregnant and had a breech delivery 3 weeks early are also risk factors for genetic disorders.

A pregnant woman is to undergo testing to evaluate for chromosomal abnormalities. Which test would the nurse expect to be done the earliest? A) Amniocentesis B) Chorionic villi sampling C) Triple screen D) Fetal nuchal translucency

Ans: B Chorionic villi sampling is performed at 7 to 11 weeks' gestation. Amniocentesis usually is performed after 15 weeks' gestation. A triple screen is usually done between 16 and 19 weeks' gestation. Fetal nuchal translucency must be performed between 11 and 14 weeks.

When teaching the parents of a child with phenylketonuria, the nurse would instruct them to include which food in the child's diet? A) Milk B) Oranges C) Meat D) Eggs

Ans: B Foods that contain phenylalanine are to be avoided. These include milk, meat, and eggs. Foods such as oranges would be allowed

The nurse is teaching a couple about X-linked disorders. They are concerned that they might pass on hemophilia to their children. What response by the couple indicates the need for further teaching? A) "The father can't be a carrier if he doesn't have hemophilia." B) "If the father doesn't have it, then his kids won't either." C) "If the mother is a carrier, her daughter could be one too." D) "If the mother is a carrier, her sons may have hemophilia."

Ans: B Hemophilia is an X-linked recessive disorder. This means that both the father and the mother must have the gene for hemophilia to pass it on to their children. Also, their male children will have hemophilia, while their female children have only a 50% chance of having the disorder. If the father has hemophilia and the mother has hemophilia, their children will have the disease. If the father has hemophilia and the mother is a carrier, all their children have a 50% chance of getting the disease.

When providing support and education to the family of a child who is diagnosed with a serious genetic abnormality, what would be the priority? A) Assisting with scheduling follow-up visits B) Establishing a trusting relationship C) Teaching the family what to expect D) Using measures to promote growth and development

Ans: B Regardless of the genetic abnormality, learning of a genetic abnormality may be shattering to the family. Therefore, the initial priority is to establish a trusting relationship. Once this is accomplished, other aspects of care, such as assisting with scheduling follow-up visits, teaching, and implementing measures to promote growth and development, can be addressed.

The nurse is caring for a couple who have just learned that their infant has a genetic disorder. What would be least appropriate for the nurse to do at this time? A) Actively listening to the parents' concerns B) Teaching the parents about the child's medical needs C) Providing time for the parents to ask questions D) Offering suggestions for support services

Ans: B The parents are most likely overwhelmed with learning the diagnosis and are dealing with a wide range of emotions and reactions. Therefore, it would be inappropriate at this time to attempt teaching them. Rather, the nurse would provide emotional support, actively listening to the parents, allowing time for questions, and offering suggestions for support to assist them in dealing with this new challenge. Teaching can be done at a later time.

The pediatric nurse is conducting an information session for parents regarding genetic alterations in children. Which comments by the parents of a child with a cleft palate indicate learning occurred during the session? Select all that apply. A) "I can't believe that it is because of my genes that our child has this disorder." B) "Our child will need to be counseled when reaching adulthood since the risk for passing along the gene that causes cleft palate is increased." C) "While I'm not sure what they are, I know that environmental factors have likely played a role in our child's cleft palate." D) "I wish we had genetic testing before having children. We might have felt a little more prepared for the possibility of disorders in our children." E) "This makes it almost certain that if we have more children they will have cleft palate as well."

Ans: B, C, D Many of the common congenital malformations, such as cleft palate, are attributed to multifactorial inheritance (a combination of genes from both parents, along with unknown environmental factors, produces the trait or condition). These disorders tend to have familial tendencies as well.

The nurse is assessing a 4-year-old boy whose mother was 40 years old when he was born. Which finding suggests this child has a genetic disorder? A) Inquiry determines the child had feeding problems. B) Observation shows nasal congestion and excess mucus. C) Inspection reveals low-set ears with lobe creases. D) Auscultation reveals the presence of wheezing.

Ans: C Low-set ears are associated with numerous genetic dysmorphisms. Additionally, the mother's age during pregnancy is a risk factor for genetic disorders. Feeding problems could have been due to low birthweight, prematurity, or a variety of other reasons. The nasal congestion may be a cold. The wheezing could be bronchiolitis or asthma.

The nurse is assessing an infant and notes that the infant's urine has a mousy or musty odor. What would the nurse suspect? A) Maple syrup urine disease B) Tyrosinemia C) Phenylketonuria D) Trimethylaminuria

Ans: C The urine of a child with phenylketonuria has a mousy or musty odor. For the child with maple syrup urine disease, excretions have a maple syrup odor. With tyrosinemia, excretions have a cabbage-like or rancid butter odor. With trimethylaminuria, excretions smell like rotting fish.

When providing guidance to the parents of a child with Down syndrome, which interaction would be most appropriate? A) Encourage the parents to home-school the child. B) Advise the parents that the child will need monthly thyroid testing. C) Instruct them on the need for yearly dental visits. D) Teach the parents about the need for a high-fiber diet.

Ans: D A high-fiber intake is important for children with Down syndrome because their lack of muscle tone may decrease peristalsis, leading to constipation. Early intervention programs with special education are important to promote growth and development. The child should be integrated into mainstream education whenever possible. Children with Down syndrome should undergo thyroid testing yearly and see the dentist every 6 months.

The nurse is preparing a presentation to a local community group about genetic disorders and the types of congenital anomalies that can occur. What would the nurse include as a major congenital anomaly? A) Overlapping digits B) Polydactyly C) Umbilical hernia D) Cleft palate

Ans: D Cleft palate is considered a major congenital anomaly, one that creates a significant medical problem or requires surgical or medical management. Overlapping digits, polydactyly, and umbilical hernia are considered minor congenital anomalies because they do not cause an increase in morbidity in and of themselves.

The nurse is teaching a couple about the pros and cons of genetic testing. Which statement best describes the capabilities of genetic testing? A) "Various genetic tests help the physician choose appropriate treatments." B) "Genetic testing helps couples avoid having children with fatal diseases." C) "Genetic tests identify people at high risk for preventable conditions." D) "Some genetic tests can give a probability for developing a disorder."

Ans: D The fact that some tests only provide a probability for developing a disorder raises a problem. A serious limitation of these susceptibility tests is that some people who carry a disease-associated mutation never develop the disease. The other statements affirm the value of genetic tests.

The nurse is teaching the parents of a 1-month-old girl with Down syndrome how to maintain good health for the child. Which instruction would the nurse be least likely to include? A) Getting cervical radiographs between 3 and 5 years of age B) Adhering to the special dietary needs of the child C) Getting an echocardiogram before 3 months of age D) Monitoring for symptoms of respiratory infection

Ans:B Children with Down syndrome do not require a special diet unless underlying gastrointestinal disease is present. However, a balanced, high-fiber diet and regular exercise are important. Getting cervical radiographs between 3 and 5 years of age is the screening method for atlantoaxial instability, which is seen in about 14% of children with Down syndrome. Evaluation by a pediatric cardiologist before 3 months of age, including an echocardiogram, is important since children with Down syndrome are at higher risk for heart disease. The child will be more susceptible to infectious diseases.

The nurse is caring for a 1-month-old girl with low-set ears and severe hypotonia who was diagnosed with trisomy 18. Which nursing diagnosis would the nurse identify as most likely? A) Interrupted family process related to the child's diagnosis B) Deficient knowledge deficit related to the genetic disorder C) Grieving related to the child's poor prognosis D) Ineffective coping related to stress of providing care

Ans:C Grieving related to the child's prognosis is a diagnosis specific to this child's care. The prognosis for trisomy 18 is that the child will not survive beyond the first year of life. Ineffective coping related to the stress of providing care, deficient knowledge related to the genetic disorder, and interrupted family process due to the child's diagnosis could be appropriate for any family of a child with a genetic disorder.

The nurse is counseling a couple who suspect that they could bear a child with a genetic abnormality. What would be most important for the nurse to incorporate into the plan of care when working with this family? A) Gathering information from at least three generations B) Informing the family of the need for a wide range of information C) Maintaining the confidentiality of the information D) Presenting the information in a nondirective manner

Ans:D It is essential to respect client autonomy and present information in a factual, nondirective manner. In these situations, the nurse needs to understand that the choice is the couple's to make. Gathering information for three generations obtains a broad overview of what has been seen in both sides of the family. Maintaining confidentiality of the information is as important as with any other client information gathered. Informing family of the need for information is necessary because of its personal nature.

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? A. Pizza with french fries B. Bean soup with fresh fruit C. Hamburger & french fries D. Hotdog with pickles

B

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

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

C 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 baby is born with what the physician believes is a diagnosis of trisomy 21. This means that the infant has three number 21 chromosomes. What factor describes this genetic change? a) The mother also has genetic mutation of chromosome 21 b) The patient has a nondisjunction occurring during meiosis c) The patient will have a single X chromosome and infertility d) During meiosis, a reduction of chromosomes resulted in 23

B During meiosis, a pair of chromosomes may fail to separate completely, creating a sperm or oocyte that contains either two copies or no copy of a particular chromosome. This sporadic event, called nondisjunction, can lead to trisomy. Down syndrome is an example of trisomy. The mother does not have a mutation of chromosome 21, which is indicated in the question. Also, Trisomy does not produce a single X chromosome and infertility. Genes are packaged and arranged in a linear order within chromosomes, which are located in the cell nucleus. In humans, 46 chromosomes occur in pairs in all body cells except oocytes and sperm, which contain only 23 chromosomes.

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? a) They are direct result of the patient's lifestyle b) They are multifactorial c) They do not have a genetic basis d) They are caused by a single gene

B 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.

A client who is 37 years of age presents to the health care clinic for her first prenatal check up. Due to her advanced age, the nurse should prepare to talk with the client about her increased risk for what complication? a) Incompetent cervix b) Genetic disorders c) Gestational diabetes d) Preterm labor

B Women over the age of 35 are at increased risk of having a fetus with an abnormal karyotype or other genetic disorders. Gestational diabetes, an incompetent cervix, and preterm labor are risks for any pregnant woman.

Upon assessment, the nurse notices that the infant's ears are low-set. What is the priority action by the nurse? a) Inform the parents that low-set ears are a sign of Down syndrome b) Place the infant on a cardiac monitor c) Continue to assess the infant to look for other abnormalities d) Give a vitamin B12 injection to combat the metabolic disorder

C Continue to assess for major and minor congenital anomalies because major anomalies may require immediate medical attention. Three or more minor anomalies increase the chance of a major anomaly. Low-set ears can be a symptom of a variety of genetic disorders. Mentioning Down syndrome without further investigation can cause undue stress in parents. The infant may not need cardiac monitoring; further assessment will provide clues. Diagnostic testing is needed to determine whether the child is afflicted with a metabolic disorder.

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 will be speaking in sentences at 21 months of age." b) "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." d) "He'll be crawling all over the house by 9 months of age."

C 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.

pregnant woman undergoes maternal serum alpha-fetoprotein (MSAFP) testing at 16 to 18 weeks' gestation. Which of the following would the nurse suspect if the woman's level is decreased? a) Cardiac defects b) Open neural tube defect c) Down syndrome d) Sickle-cell anemia

C Decreased levels might indicate Down syndrome or trisomy 18. Sickle cell anemia may be identified by chorionic villus sampling. MSAFP levels would be increased with cardiac defects, such as tetralogy of Fallot. A triple marker test would be used to determine an open neural tube defect.

You care for a child with Down syndrome (trisomy 21). This is an example of which type of inheritance? a) Mendelian dominant b) Phase 2 atrophy c) Chromosome nondisjunction d) Mendelian recessive

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

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? a) Signs of jaundice b) Increased reflex action on palpation c) Report of seizures d) Musty or mousy odor to the urine

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

D 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.

Which type of genetic test would be used to detect the possibility of Down syndrome? a) Complete blood count (CBC) b) DNA analysis c) Hemoglobin electrophoresis d) Chromosomal analysis

D Chromosomal analysis is part of the genetic testing for Down syndrome. DNA analysis may be used in the detection of Huntington disease. Hemoglobin electrophoresis may be used in genetic testing for sickle cell anemia. A complete blood count (CBC) may be used as part of testing for a thalassemia

A nursing student is reviewing information about inheritance and genetic disorders. The student demonstrates understanding of the information by identifying which of the following as an example of a disorder involving multifactorial inheritance? a) Cystic fibrosis b) Hypophosphatemic rickets c) Hemophilia d) Cleft palate

D Cleft palate is attributed to multifactorial inheritance. Hemophilia follows an X-linked recessive inheritance pattern. Hypophosphatemic rickets follows an X-linked dominant inheritance pattern. Cystic fibrosis follows an autosomal recessive inheritance pattern.

The nurse is caring for a 1-year-old boy with Down syndrome. Which of the following would the nurse be least likely to include in the child's plan of care? a) Promoting annual vision and hearing tests b) Describing the importance of a high-fiber diet c) Explaining developmental milestones to parents d) Educating parents about how to deal with seizures

D Explanation: 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 proble

Which of the following conditions is a part of normal newborn screening? a) Down syndrome b) Cystic fibrosis c) Sickle cell anemia d) Phenylketonuria

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

A nurse is counseling a couple who report that they are both carriers for a condition. The medical history reveals neither of them have have symptoms of the condition. In the event this couple conceives a child, what is the likelihood they will have a child who will have the disorder? A. 50% B. 25% C. none D. 75%

b) 25% rationale: When an individual is a carrier for a disorder they have one normal gene and one abnormal gene. They do not demonstrate the symptoms of the disorder. In the event they reproduce with an individual with the same pattern they will have a 25% chance of conceiving a child with the disorder. There is a 50% chance they will conceive a child who like them is a carrier for the disorder.