Patho 15 Genetic and Developmental Health Problems

The nurse should monitor the adolescent who has Marfan syndrome for which potentially lethal complication? 1. Aortic rupture 2. Retinal detachment 3. Hyperextended joints 4. Seizure

1. Aortic rupture The connective tissue disorder of Marfan syndrome can include weakened arterial walls that can lead to aortic rupture or dissection, which is the primary cause of death for the disorder. Retinal detachment and hyperextensible joints are not life threatening. Seizure activity represents a neurological problem. The critical words in the question are potentially lethal. Evaluate 2 options easily because they are not life threatening and then recall that Marfan disease is a connective tissue disorder rather than a neurological disorder to make a final selection.

A woman who has just been diagnosed with Huntington's disease asks the nurse if her children are likely to develop this disorder also. What should the nurse include in a response? 1. If the mother alone has the disease, the children have a 50% chance of inheriting the same disorder. 2. Both parents must have the disease for the offspring to inherit the same disorder. 3. The disorder is a spontaneous disruption of the neurotransmitters with no inheritance principles. 4. If the mother has the disease, the children have a 1:4 chance of inheriting the same disorder.

1. If the mother alone has the disease, the children have a 50% chance of inheriting the same disorder. Huntington's disease is an autosomal dominant disorder needing only 1 chromosome to be present. The risk of transmission of the chromosome 4 defect is 2:4 incidences if 1 parent has the disease, meaning 2 children will have the disorder and 2 will not. If both parents have it, 3 of the 4 children will have the disease and 1 will not. The core issue of the question is the risk of developing a disease with an autosomal dominant disorder. Use principles of genetics and recall that this is an autosomal dominant disorder to make a selection.

The nurse explains to the mother of an infant born with phenylketonuria (PKU) that the infant requires a low phenylalanine diet to prevent which of the following complications? 1. Irreversible brain damage 2. Kidney failure 3. Blindness 4. Neutropenia

1. Irreversible brain damage The child with phenylketonuria (PKU) must maintain a strict low-phenylalanine diet to prevent central nervous system damage, seizures, and eventual death. The child lacks phenylalanine hydroxylase, an enzyme needed to metabolize phenylalanine. Kidney failure, blindness, and neutropenia are not involved in PKU. Recall that phenylketonuria (PKU) tests are routinely done on all newborns. Specific nursing knowledge is needed to answer this question.

A priority nursing intervention for the infant with cleft lip is which of the following? 1. Monitoring for adequate nutritional intake 2. Teaching high-risk newborn care 3. Assessing for shallow respirations 4. Preventing injury

1. Monitoring for adequate nutritional intake The infant with cleft lip is unable to create an adequate seal for sucking. The child is at risk for inadequate nutritional intake as well as aspiration. Although newborn care and injury prevention are general nursing interventions for all clients, the priority need is one that meets basic physiological needs and considers pathophysiology. Consider Maslow's hierarchy when prioritizing. Recall that physiological needs are a priority before safety needs.

The parents of a baby with Down syndrome are seeking genetic counseling. The baby has been identified as having trisomy of chromosome 21. The nurse would include which information when counseling the clients about the risk of conceiving another child with trisomy 21? Select all that apply. 1. The risk increases with maternal age. 2. There is no risk of a second child with Down syndrome. 3. The risk is 1 in 4 since there is already a child with Down syndrome. 4. The age of the father is bigger risk factor than the mother's age 5. If the mother is 45 years old, the risk 3-5%

1. The risk increases with mate al age. 5. If the mother is 45 years old, the risk 3-5% The risk of Down syndrome increases with the age of the mother since the oocytes have been formed since birth. The risk is 1 in 1,300 at 25 years and increases to 1 in 30 at 45 years. Since males produce sperm throughout their life, the paternal age is not thought to be a factor. If the child had translocation of the 21st chromosome, there would be no relation to maternal age but a high recurrence risk if the mother was a carrier. This information is important to disclose to the family in genetic counseling. Specific nursing knowledge is needed to answer this question. Apply knowledge of birth defects and risks.

A child is noted to have a very short stature, webbed neck , and low posterior hairline. The nurse will expect which of the following health problems? 1. Turner syndrome 2. Down syndrome 3. Marfan syndrome 4. Klinefelter syndrome

1. Turner syndrome Short stature, nonpitting lymphedema of the hands and feet, webbed neck, and low posterior hairline are the key assessment features in Turner syndrome. If the child is diagnosed early in age, proper treatment with growth hormone can be offered to the family. Down syndrome is characterized by low-set ears and epicanthal folds. Physical manifestations in Marfan syndrome include a tall, thin build, "pigeon chest," and arachnodactyly. The male with Klinefelter syndrome tends to have wider hips and some breast development. The question describes one of these genetic disorders. If guessing, eliminate the ones known to be incorrect. Otherwise, specific nursing knowledge is needed to answer the question.

Which response by the nurse is best when the daughter of a woman with Huntington's disease asks why the client should be given thickened liquids? 1. "Your mother is at risk for dehydration." 2. "Your mother is at risk for aspiration of regular consistency liquids into the airway." 3. "Your mother may have difficulty chewing because of fatigue." 4. "Your mother may have pain on swallowing and this will minimize this risk."

2. "Your mother is at risk for aspiration of regular consistency liquids into the airway." An individual with Huntington's disease develops chorea (rapid, jerky movements) and might have difficulty swallowing liquids, which could lead to the potential of aspiration of thin liquids. Death usually results from aspiration pneumonia or another infection. Thickened liquids will not help dehydration and are not needed because of fatigue or pain. Eliminate the incorrect options after identifying the risks reduced by providing thickened liquids.

A client with cystic fibrosis (CF) is in obvious respiratory distress with circumoral cyanosis. What factor should the nurse consider when administering oxygen with a prn order for this client? 1. Children with cystic fibrosis (CF) respond poorly to oxygen administration. 2. Administration of oxygen could decrease respiratory drive. 3. The higher the flow rate of oxygen, the better the child will breathe. 4. Oxygen should be administered via face mask.

2. Administration of oxygen could decrease respiratory drive. Clients with cystic fibrosis (CF) develop chronic obstructive pulmonary disease (COPD) and chronic carbon dioxide retention (hypercapnia), becoming dependent on hypoxia to drive the respiratory system. Too much oxygen will decrease the body's stimulus to breathe; therefore, the nurse should monitor the respiratory status of a client with cystic fibrosis for potential apnea. Consider the chronic obstruction with cystic fibrosis (CF) and apply knowledge of safe oxygen administration.

The parent of a child born with albinism type I asks the nurse how this happened. What feature of the genetics of this disorder would the nurse include in a response? 1. Autosomal dominant 2. Autosomal recessive 3. X-linked 4. Multifactorial

2. Autosomal recessive Albinism type I is an autosomal recessive disorder. Both parents must be carriers for the child to inherit the congenital disorder. One parent would have the disease in an autosomal dominant trait. X-linked traits tend to manifest in male children. A multifactorial disorder is affected by both genetics and environment. Use general nursing knowledge to answer the question. Recall that when options are opposites, one of them must be incorrect.

Nursing care of an adolescent client with Klinefelter syndrome focuses mainly on which problem? 1. Changes in fluid and electrolyte balance 2. Body image issues 3. High risk for complications 4. Difficulty with movement

2. Body image issues The adolescent client with Klinefelter syndrome is a tall, lean male with no secondary sex characteristics. Body image is the appropriate problem for the adolescent client after taking into account growth and developmental considerations. Fluid and electrolyte imbalance and mobility issues are not of concern, and high risk for complications is too vague to be of use for this client. The core issue of this question is an understanding of the key growth and developmental concerns of an adolescent client with an inherited disorder that affects physical appearance. Use these concepts and the process of elimination to make a selection.

The symptoms in a client with cystic fibrosis (CF) have progressed rapidly over the past 2 years. Presently, the client is in the emergency department with significant respiratory distress. What physical characteristics should the nurse expect to see in the client? Select all that apply. 1. Low-set ears and long slender fingers 2. Increased anteroposterior chest diameter (barrel chest) 3. Clubbed fingernails 4. Bibasilar crackles on auscultation 5. Chronic cough

2. Increased anteroposterior chest diameter (barrel chest) 3. Clubbed fingernails 4. Bibasilar crackles on auscultation 5. Chronic cough The child with cystic fibrosis (CF) is chronically hypoxic because of progression of chronic obstructive pulmonary disease (COPD). Clubbing of nail beds occurs after 6 months of inadequate oxygenation, which is characteristic of children with CF. The client will have a chronic cough, bibasilar crackles, barrel chest, and possibly signs of right-sided heart failure. Low-set ears are seen with Down syndrome, and long slender fingers are seen with Marfan syndrome. Look for respiratory system findings. Do not choose abnormalities for other syndromes.

The nurse concludes that a male child with a karyotype showing XXY is a candidate for which of the following? 1. Turner syndrome 2. Klinefelter syndrome 3. Down syndrome 4. Marfan syndrome

2. Klinefelter syndrome The child with Klinefelter has an extra X chromosome. The karyotype shows the pictorial analysis of the total chromosomes of a cell (or an individual), which in this case is XXY. X is the karyotype for Turner syndrome. A trisomy 21 is the karyotype for Down syndrome. Marfan is an autosomal dominant disorder with a mutation rather than aneuploidy. Recall that karyo- refers to the nucleus of a cell. In this question, if the word karyotype is unfamiliar, relate your answer to the extra X chromosome.

A 16-year-old client comes to the health care provider's office for a physical examination, which is required to join the high school basketball team. He is a tall, lean male with long, slender fingers. His mother is concerned about his health because she has heard about high school athletes dying on the basketball court during games. The nurse interprets that the parent could be referring to which congenital anomaly and associated life-threatening defect? 1. Down syndrome and atrial-ventricular (AV) canal 2. Marfan syndrome and aortic dilation 3. Phenylketonuria (PKU) and seizures 4. Turner syndrome and hypothyroidism

2. Marfan syndrome and aortic dilation The physical characteristics of the client are consistent with Marfan syndrome. This connective tissue disorder can involve the heart - specifically the aorta - and can lead to a fatal aortic aneurysm. Clients with Down syndrome are typically not tall and lean; they tend to be shorter in height and of average build. Clients with phenylketonuria (PKU) have an inborn error of metabolism and require a low phenylalanine diet. Turner syndrome is a chromosomal anomaly with the absence of one X chromosome, and hypothyroidism is a disorder in which the thyroid gland produces less than required triiodothyronine (T3) and thyroxine (T4) for bodily metabolism. Consider the physical characteristics given in the question. After you have identified the disorder, what is the life-threatening aspect?

The nurse explains to parents of an infant with cystic fibrosis (CF) that the foul-smelling, frothy characteristic of stools results from the presence of large amounts of which of the following? 1. Sodium and chloride 2. Undigested fat 3. Semidigested carbohydrates 4. Lipase, trypsin, and amylase

2. Undigested fat The client with cystic fibrosis (CF) poorly absorbs fats because of the thick secretions blocking the pancreatic duct. The lack of natural pancreatic enzyme leads to poor absorption of predominantly fats in the duodenum. Foul-smelling, frothy stool is termed steatorrhea. Recall that in cystic fibrosis (CF), the pancreatic insufficiency results in digestive problems, causing the stool described in the question. Consider the role of the exocrine pancreas in digestion. Do not be fooled by an option with pancreatic-sounding names.

The nurse should plan to teach the parent of a client with albinism about which preventive health care measure? 1. Ulcerative colitis diet 2. Use of a high sun protection factor (SPF) sunblock 3. Hair loss monitoring 4. Monitor for growth retardation

2. Use of a high sun protection factor (SPF) sunblock Without melanin production, the child with albinism is at risk for severe sunburns. Maximum sun protection should be taken, including use of hats, long sleeves, minimal time in the sun, and high sun protection factor (SPF) sunblock, to prevent any problems. It is unnecessary to alter the diet because there is not an associated risk of ulcerative colitis; hair loss and growth retardation are not of concern. This question asks about preventive health maintenance. Eliminate the options that do not apply to albinism.

A 16-year-old girl comes to the clinic because she has not begun to menstruate like all of her friends. She is short and shows no signs of secondary sex characteristics. She reports swollen hands and feet, has skin folds in the neck, and has a low hairline. How would the nurse best address the client's concerns? 1. "Don't worry. Many girls are late developing. Just wait a little longer." 2. "There must be something really wrong considering what you have told me. Let's see what the doctor says." 3. "We recommend that girls with problems like yours have chromosomal studies to find the reason and begin treatment." 4. "You have a severe chromosomal problem. There is no treatment but you could consider yourself lucky not to get periods."

3. "We recommend that girls with problems like yours have chromosomal studies to find the reason and begin treatment." It is recommended that girls who have lymphedema, delayed puberty, and are below the 5th percentile in height have chromosomal studies. This client has the appearance of Turner syndrome. It needs to be confirmed and treated. Statements that ignore the client's concerns or increase the client's fear (even if technically correct) are not helpful. The problems of this client are greater than delayed puberty. Choose an option that gives true information.

A child with cleft palate begins pulling on his left ear, is irritable, and begins to run a temperature of 102 °F. Based on these findings, the nurse would next assess the child for signs of which of the following? 1. Pneumonia 2. Urinary tract infection (UTI) 3. Otitis media 4. Cellulitis

3. Otitis media The child with cleft palate has communication between the oropharynx and the Eustachian tube. The child is at high risk for recurrent ear infections. The symptoms described are common with otitis media regardless of the congenital abnormality. Pneumonia is a respiratory infection, but no specific respiratory symptoms are listed. The child with urinary tract infection (UTI) would report painful urination, which is not one of the symptoms described. The child with cellulitis would not be pulling on his ear. Read the symptoms carefully. The phrase pulling on his left ear is a clue to the location of the infection. Recall also the pathophysiology of cleft palate in making a selection.

The nurse would use which explanation in telling the mother of a child who is postoperative for cleft lip repair about the importance of keeping the elbow restraints in place? 1. "Your child could pull out his or her nasogastric tube." 2. "Your child might dislodge his or her intravenous catheter." 3. "Your child may aspirate formula." 4. "Your child may disrupt the lip suture line."

4. "Your child may disrupt the lip suture line." For optimal appearance and healing of the suture line for cleft lip repair, the child should not be allowed to touch the mouth. Consider the need for postoperative healing, remembering that the principle of restraints is to use the least restraint for the shortest time.

The pediatric nurse assigned to a hospitalized infant with Down syndrome plans care to aid the infant in meeting which of Erikson's developmental stages? 1. Initiative vs. self doubt 2. Industry vs. inferiority 3. Autonomy vs. shame and doubt 4. Trust vs. mistrust

4. Trust vs. mistrust The child with Down syndrome will go through the same first developmental stage of trust vs. mistrust, only at a slower rate. Therefore, the nurse should concentrate on developing a bond between the primary caregiver and the child. The other stages listed occur after infancy. Specific knowledge of developmental stages is needed to answer the question. Note that the client is an infant to pick the first developmental stage, which sets the stage for how the infant will relate to the world after birth.

The nurse explains to a parent of a child with cystic fibrosis that the parent should administer the pancrelipase (Pancrease) how often? 1. Three times daily 2. After each loose stool 3. Upon arising in the morning 4. With each meal and snack

4. With each meal and snack Pancrelipase (Pancrease) should be given with each meal and snack so it is available before food enters the duodenum. Pancrelipase, a drug that is a pancreatic enzyme, allows a diet with normal amounts of fat and protein. The dose and product type are individualized for each client. The drug is not given to treat loose stools. Administering it more than once per day is partially correct in that meals are eaten 3 times per day, but this option is nonspecific as to timing with food and does not account for intake of snacks. Recall the role of the enzyme in aiding digestion in order to help focus on the option that is most accurate.