Chapter 6: Genetic and Congenital Disorders Taken from http://thepoint.lww.com/Book/Show/Level 3

The nurse is providing education to the parent of a male diagnosed with Marfan syndrome. The nurse knows that her teaching has been effective when the parent states which of the following? a) "He will need to have his hearing checked routinely." b) "The most life-threatening aspects of the disorder are the chest deformities." c) "Cardiac surgery will be used to cure the syndrome." d) "His participation in sports may need to be limited."

"His participation in sports may need to be limited." Marfan syndrome affects several organ systems, including the eyes, cardiovascular and skeletal systems. The risks associated with participation in sports depend on which organ system is involved. There is no cure for Marfan syndrome and the most life-threatening aspects of the disorder are the cardiovascular defects.

The parents of a newborn infant are relieved that their baby was born healthy, with the exception of a cleft lip that will be surgically corrected in 10 or 12 weeks. Which of the nurse's following statements to the parent's best conveys the probable cause of the infant's cleft lip?

"Your child's cleft lip likely results from the interplay between environment and genes." A cleft lip is considered to be a multifactorial disorder, in which both environment and genes contribute to the condition. It does not depend solely on Mendelian patterns of inheritance and is not known to result from teratogenic drugs.

A mother who has one mutant allele on the X chromosome and one normal allele asks the nurse what the percentage is of passing it on to a daughter to be a carrier. The best response would be: a) 75% b) 25% c) 100% d) 50%

50% The common pattern of inheritance is one in which an unaffected mother carries one normal and one mutant allele on the X chromosome. This means that she has a 50% chance of transmitting the defective gene to her sons, and her daughters have a 50% change of being carrier of the mutant gene.

A newborn has been diagnosed with phenylketonuria (PKU). The nurse teaches the mother about a special diet to restrict phenylalanine intake. When does this diet need to be initiated? a) 6 months of age b) 7-10 days of age c) 2 weeks of age d) 1 year of age

7-10 days of age Dietary treatment of PKU must be started early in neonatal life to prevent brain damage. Infants with elevated phenylalanine levels should begin treatment by 7-10 days of age.

Which of the following is true about recessive gene inheritance?

A carrier is a non-affected person with a single copy of a recessive gene Autosomal recessive disorders are manifested only when both members of the gene pair are affected. So, a carrier is a non-affected person with a single copy of a recessive gene. Dominant genes have greater expression than recessive ones. Because of the presence of a normal X gene, female heterozygotes rarely experience the effects of a defective gene, whereas all males who receive the gene are typically affected. Variability of gene expression is called variable expressivity.

Which of the following is true about recessive gene inheritance? a) X-linked recessive genes are expressed only if two X chromosomes are present b) Dominant genes have less power of expression than recessive ones c) Variability of gene expression is called reduced penetrance d) A carrier is a non-affected person with a single copy of a recessive gene

A carrier is a non-affected person with a single copy of a recessive gene Autosomal recessive disorders are manifested only when both members of the gene pair are affected. So, a carrier is a non-affected person with a single copy of a recessive gene. - Dominant genes have greater expression than recessive ones. Because of the presence of a normal X gene, female heterozygotes rarely experience the effects of a defective gene, whereas all males who receive the gene are typically affected. -Variability of gene expression is called variable expressivity

Which of the following pregnant women has most likely encountered the greatest increase in the risk that her child will have a fetal anomaly? a) A woman who has herpes simplex and who has recently recovered from endocarditis. b) A woman with diagnoses of syphilis and cirrhosis of the liver. c) A woman with diagnoses of insulin-dependent diabetes mellitus and peripheral neuropathy. d) A woman with chronic obstructive pulmonary syndrome and tuberculosis.

A woman who has herpes simplex and who has recently recovered from endocarditis. Herpes is among the microorganisms most commonly responsible for fetal anomalies. Syphilis and tuberculosis infections are also implicated but to a lesser degree. The other listed diagnoses are not noted to be associated with fetal anomalies. (less)

A child receives two members of a gene pair, one inherited from the mother and the other from the father. This is interpreted as: a) Phenotype b) Alleles c) Genotype d) Locus

Alleles Two members of a gene pair, one inherited from the mother and the other from the father, are called alleles. -The genes on each chromosome are arranged in pairs and in strict order, with each gene occupying a specific location or locus. -Genotype is the genetic makeup, as distinguished from the physical appearance, of an organism or a group of organisms. -Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.

A child receives two members of a gene pair, one inherited from the mother and the other from the father. This is interpreted as:

Alleles Two members of a gene pair, one inherited from the mother and the other from the father, are called alleles. The genes on each chromosome are arranged in pairs and in strict order, with each gene occupying a specific location or locus. Genotype is the genetic makeup, as distinguished from the physical appearance, of an organism or a group of organisms. Gene expression is the process by which information from a gene is used in the synthesis of a functional gene product.

The criteria for fetal alcohol syndrome diagnosis require the documented presence of all of the following except which one? a) CNS abnormalities b) An absence of all or part of the X chromosome c) Three facial abnormalities d) Growth deficits

An absence of all or part of the X chromosome An absence of all or part of the X chromosome is seen in Turner syndrome. -The other options are criteria for fetal alcohol syndrome diagnosis.

Marfan syndrome, which is a connective tissue disorder, affects several organ systems. The most life-threatening aspects of the disorder are caused by defects in which of the following systems?

Cardiovascular Marfan syndrome affects several organ systems, including the cardiovascular, skeletal and ocular systems. The most life-threatening aspects of the disorder are the cardiovascular defects, which include mitral valve prolapse, progressive dilation of the aortic valve ring and weakness of the aorta and other arteries.

Marfan syndrome is a single-gene disorder that affects which type of tissue? a) Cutaneous b) Muscular c) Respiratory d) Connective

Connective Marfan syndrome is an autosomal dominant disorder of the connective tissue, which gives shape and structure to other tissues in the body and holds them in place. - It affects several organ systems, including the eyes, cardiovascular system and the skeletal system.

A woman gives birth to a small infant with a malformed skull. The infant grows abnormally slowly and shows signs of substantial cognitive and intellectual deficits. The child also has facial abnormalities that become more striking as it develops. What might you expect to find in the mother's pregnancy history?

Chronic alcohol use The infant's signs and symptoms are characteristic of fetal alcohol syndrome. Folic acid deficiency is associated with neural tube defects, such as anencephaly and spina bifida. Cocaine use is associated with some of the same signs and symptoms as alcohol use but does not produce the characteristic facial abnormalities of fetal alcohol syndrome. Herpes simplex infection, although it is associated with microcephaly, hydrocephalus, defects of the eye, and hearing problems, also does not produce characteristic facial abnormalities.

The U.S. Food and Drug Administration established a system in 1979 for classifying drugs according to their proven teratogenicity. Place these classes of drugs in order from least to greatest potential for teratogenicity.

Class A Class B Class C Class D Class X Explanation: In 1979, the U.S. Food and Drug Administration established a system for classifying drugs according to probable risks to the fetus. According to this system, drugs are put into five categories: A, B, C, D, and X. Drugs in category A are the least dangerous, and categories B, C, and D are increasingly more dangerous. Those in category X are contraindicated during pregnancy because of proven teratogenicity.

The nurse is explaining congenital defects to a newly pregnant patient. She explains that one of the most common birth defects is which of the following?

Cleft lip with or without cleft palate Cleft lip with or without cleft palate is one of the most common birth defects. Other congenital defects that are thought to arise through multifactorial inheritance are clubfoot, congenital dislocation of the hip, congenital heart disease, pyloric stenosis, and urinary tract malformation.

Marfan syndrome is a single-gene disorder that affects which type of tissue?

Connective Marfan syndrome is an autosomal dominant disorder of the connective tissue, which gives shape and structure to other tissues in the body and holds them in place. It affects several organ systems, including the eyes, cardiovascular system and the skeletal system.

A physician is working with a 30 year old male client with Down syndrome who has been admitted to hospital with a diagnosis of acute leukemia. Which of the following physical assessment finding would the physician be more likely to find in an examination of this client than other clients without Down syndrome? a) Decreased visual acuity b) Congenital heart defects c) Diabetes mellitus d) Hepatomegaly

Congenital heart defects Congenital heart defects are associated with Down syndrome. -Hepatomegaly, visual disturbances, and diabetes are not associated.

Which of the following diseases is caused by a genetic defect of chloride transport?

Cystic fibrosis Cystic fibrosis is a single-gene inheritance disorder of membrane transport of chloride ions in exocrine glands causing lung and pancreatic disease. The other options are also single-gene inheritance disorders but do not involve chloride transport.

With increasing age, there is a greater chance of a woman having been exposed to damaging environmental agents such as drugs, chemicals, and radiation. These factors may act on the aging oocyte to cause what in a fetus?

Down syndrome The risk of having a child with Down syndrome increases with maternal age—it is 1 in 1250 at 25 years of age, 1 in 400 at 35 years, and 1 in 100 at 45 years of age. The reason for the correlation between maternal age and nondisjunction is unknown, but is thought to reflect some aspect of aging of the oocyte. Although males continue to produce sperm throughout their reproductive life, females are born with all the oocytes they ever will have. These oocytes may change as a result of the aging process. With increasing age, there is a greater chance of a woman having been exposed to damaging environmental agents such as drugs, chemicals, and radiation. There is no correlation with maternal age and the other syndromes.

Fetal alcohol syndrome (FAS) is unlike other teratogens in that the harmful effects on the fetus: a) Directly result in liver damage b) Cause death in early childhood c) Extend throughout the pregnancy d) Are most noticeable in adulthood

Extend throughout the pregnancy Unlike other teratogenic exposures that cause abnormalities during a short period of time during fetal development (usually in the early weeks), fetal alcohol (FAS) damages the chromosomes of the developing fetus as long as alcohol continues to circulate through the fetal bloodstream. FAS is diagnosed by the presence of three findings that do not include liver abnormalities and are not life threatening. Facial features characteristic of FAS are most noticeable during childhood.

Is it true or false that prenatal screening can be used to rule out all possible fetal abnormalities?

False Prenatal screening cannot be used to rule out all possible fetal abnormalities. It is limited to determining whether the fetus has (or possibly has) designated conditions indicated by late maternal age, family history, or well-defined risk factors.

The most critical time for teratogenic influence in embryonic development is which one of the following?

From day 15 to day 60 after conception The embryo's development is most easily disturbed during the period when differentiation and development of the organs are taking place. This time interval, which is often referred to as the period of organogenesis, extends from day 15 to day 60 after conception.

Which assessment finding would help support the diagnosis of fetal alcohol syndrome (FAS) in a newborn?

Head circumference below the 10th percentile A head circumference and weight below the 10th percentile are two of the necessary criteria for the diagnosis of FAS. FAS possesses a characteristic set of facial features that includes a thin vermilion border (upper lip), and an elongated, flattened midface and philtrum (i.e., the groove in the middle of the upper lip). Blindness is not necessarily considered a hallmark characteristic of FAS.

Each cell has 46 chromosomes, 23 from the mother and 23 from the father. The chromosomes are paired with alleles of genes that are paired, and if both members of the gene pair are identical, the person is considered homozygous. What is the person considered if both members of the gene pair are not identical?

Heterozygous If the members of a gene pair are identical (i.e., code the exact same gene product), the person is homozygous, and if the two members of the gene pair are different, the person is heterozygous. The phenotype is the observable expression of a genotype in terms of morphologic, biochemical, or molecular traits. Although gene expression usually follows a dominant or recessive pattern, it is possible for both alleles (members) of a gene pair to be fully expressed in the heterozygote, a condition called codominance. A gene mutation is a biochemical event such as nucleotide change, deletion, or insertion that produces a new allele.

The nurse explains to prospective parents that AA or aa in a punnett square represent two alleles of a given pair are the same or

Homozygotes When two alleles of a given pair are the same as in AA or aa, they are considered homozygotes.

Which of the following practitioners is most likely to be of immediate assistance in the first 24 hours following delivery of an infant with a cleft lip? a) Occupational therapist b) Respiratory therapist c) Social worker d) Lactation consultant

Lactation consultant Infants with a cleft lip typically have difficulty with feeding, and the assistance of a lactation consultant may be of help in establishing feeding patterns. Oxygenation is not a typical problem, while activities of daily living and assistive devices are not relevant considerations. While social work is often of assistance when a child is born with a congenital condition, a cleft lip has fewer implications than most other inherited disorders.

A nurse is caring for an infant born with a cleft lip and palate. The priority of care would address: .

Malnutrition The immediate problem in infants with cleft lip and palate is feeding because of their inability to suck to breast-feed or drink from a bottle. The other will be of concern at a later time and are not life threatening

Mendelian inheritance characteristics are most closely associated with which one of the following?

Marfan syndrome Marfan syndrome is an autosomal dominant disorder caused by a mutant allele at a single gene locus and follows Mendelian patterns of inheritance. -Congenital heart disease and diabetes mellitus are multifactorial inheritance disorders. - Turner syndrome is a chromosomal disorder.

A nurse confers with the attending physician about a client with encephalopathy that has been attributed to mitochondrial gene mutation. Why do mutations of the mitochondria affect the brain? a) Mitochondrial gene products can cross the blood--brain barrier. b) Mitochondrial mutations affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP. c) Mitochondrial mutations can affect neural gene expression. d) Mitochondria are only active in the brain and silenced in other tissues.

Mitochondrial mutations affect the ability of tissues to synthesize ATP, and tissues with high demands malfunction without enough ATP. Tissues that have a high demand for the energy provided by ATP malfunction very quickly when ATP cannot be produced fast enough. This includes the brain, the muscular system, the auditory system, and the retina. Mitochondria cannot be silenced by the cell. -Mitochondrial proteins and mutations can affect the cell where they reside but not the entire organ.

The tissue that is damaged in Huntington chorea is which of the following? a) Skin tissue b) Nerve tissue c) Connective tissue d) Muscle tissue

Nerve tissue Huntington chorea is a neurodegenerative disorder. It does not involve the other types of tissue.

The nurse is learning about mitochondrial DNA mutations. She learns that they generally affect which of the following tissues and organs? a) Cardiovascular b) Renal c) Respiratory d) Neuromuscular

Neuromuscular Mitochondrial DNA mutations generally affect tissues that are dependent on oxidative phosphorylation to meet their high needs for metabolic energy. Thus, mtDNA mutations frequently affect the neuromuscular system and produce disorders such as encephalopathies, myopathies, retinal degeneration, loss of extraocular muscle function and deafness.

The nurse is studying genetic disorders. She learns that an allele is which of the following? a) The physical trait associated with a particular gene b) The presence of more than two chromosomes to a set c) One of two members of a gene pair, for a particular trait, in a chromosome pair d) The male or female half of a gene pair

One of two members of a gene pair, for a particular trait, in a chromosome pair The two members of a gene pair, one inherited from the mother and the other from the father, are called alleles. -The presence of more than two chromosomes to a set is called polysomy. -The physical trait associated with a particular gene is the phenotype.

The nurse is studying genetic disorders. She learns that an allele is which of the following?

One of two members of a gene pair, for a particular trait, in a chromosome pair The two members of a gene pair, one inherited from the mother and the other from the father, are called alleles. The presence of more than two chromosomes to a set is called polysomy. The physical trait associated with a particular gene is the phenotype.

The parents of an infant boy ask the nurse why their son was born with a cleft lip and palate. The nurse responds that cleft lip and palate are defects that are caused by many factors. The defect may also be caused by teratogens. Which teratogens can cause cleft lip and palate?

Rubella This defect may be caused by the teratogen rubella and is often encountered in children with chromosomal abnormalities.

Hearing impairment, blindness and adverse neurodevelopment in newborns can be prevented by vaccination against which of the following?

Rubella Although the introduction of the rubella vaccine has virtually eliminated the congenital rubella syndrome in most developed countries, it remains endemic in many developing countries, where it is the major preventable cause of hearing impairment, blindness and adverse neurodevelopmental outcome. The other options are infectious agents implicated in fetal anomalies, but do not have vaccines.

Select the screening procedure performed on newborns to decrease the risk of mental impairment and compromised neurological development. a) Erythromycin eye ointment application b) Serum phenylalanine test c) Vitamin K injection d) Serum glucose test

Serum phenylalanine test Newborn infants are routinely screened within 12 hours of birth for abnormal levels of serum phenylalanine to detect high levels that could cause irreversible mental retardation. -The other procedures that may be performed after birth would not be used as a screening tool for mental retardation.

Which symptoms support the diagnosis of the autosomal recessive disorder Tay-sachs disease? a) Severe mental deterioration originating in infancy b) Absence of melanin in the skin, hair and eyes c) Respiratory distress that results of excessive secretions d) Red blood cell defect resulting in periods of severe pain

Severe mental deterioration originating in infancy Tay-sachs disease results in a deficiency of hexosaminidase A that causes severe mental and physical deterioration beginning in infancy. Sickle cell disease is a red blood cell defect. -Oculocutaneous albinism causes hypopigmentation of skin, hair, eyes as a result of the body's inability to synthesize melanin. -Cystic fibrosis is a disorder of membrane transport of chloride ions in exocrine glands causing lung and pancreatic disease.

Which symptoms support the diagnosis of the autosomal recessive disorder Tay-sachs disease?

Severe mental deterioration originating in infancy Tay-sachs disease results in a deficiency of hexosaminidase A that causes severe mental and physical deterioration beginning in infancy. Sickle cell disease is a red blood cell defect. Oculocutaneous albinism causes hypopigmentation of skin, hair, eyes as a result of the body's inability to synthesize melanin. Cystic fibrosis is a disorder of membrane transport of chloride ions in exocrine glands causing lung and pancreatic disease.

What assessment finding supports the diagnosis of Turner syndrome?

Short stature Turner syndrome produces a female individual who is short, has no secondary sex characteristics, has normal intelligence, and fails to go through puberty due to an absence of ovaries. Polysomy X is a XXY male. XXY males have tall slim stature with breast enlargement, lack of sperm, and normal intelligence.

Ultrasonography is most likely to detect which of the following fetal abnormalities? a) Neural tube defects b) Skeletal abnormalities c) Chromosomal defects d) Single-gene disorders

Skeletal abnormalities Ultrasonography allows the visualization of body structures, revealing such defects as skeletal malformations. It is only able to identify chromosomal disorders, genetic disorders, and neural tube defects by way of their anatomic effects. (less)

The nurse teaches the patient that ultrasonography will be used during prenatal testing to identify what type of abnormalities? a) Skeletal and structural b) Chromosomal c) Cytogenic abnormalities. d) Genetic

Skeletal and structural Ultrasonography is the primary method for assessing fetal size and screen for structural abnormalities that include the heart, skeleton, face, diaphragm, and gastrointestinal tract. Cytogenic studies and chromosomal analysis require amniocentesis, chorionic villus sampling, or umbilical cord blood. ?-Fetoprotein (AFP) requires a maternal blood sample that is analyzed for serum markers associated with neural tube defects.

The health care provider informs the client that she is at risk for developing an autosomal recessive disorder. The client may be at risk for: a) Neurofibromatosis b) Marfan syndrome c) von Recklinghausen disease d) Tay-Sachs disease

Tay-Sachs disease Tay-Sachs disease is the only one of these diseases that is an autosomal recessive disorder. All the others are autosomal dominant disorders.

A nurse practitioner (NP) is assessing a client who wishes to become pregnant. What assessment finding represents the most significant risk for Down syndrome?

The client is 43 years old and has been pregnant 4 times. Age is among the most significant risk factors for the development of Down syndrome. Previous pregnancies, abortions, smoking and occupational hazards are not noted to be major risk factors in the etiology of Down syndrome.

A pregnant client is just completing her first trimester and has opted for a-fetoprotein (AFP) and human chorionic gonadotropin (hCG) testing. The nurse should identify what implication from this client's decision? a) The care team will be able to ascertain her risk of certain multifactorial disorders. b) The client wishes to know about her fetus' risk of having a trisomy. c) The client will likely choose to have a therapeutic abortion if abnormalities are revealed. d) The use of amniocentesis on contraindicated for some reason.

The client wishes to know about her fetus' risk of having a trisomy. AFP and hCG testing are most often performed to determine the risks of a trisomy. -Multifactorial disorders are not revealed by this form of testing and the nurse should not presume that the client will choose to have an abortion if the results are positive. -The use of AFP and hCG testing does not preclude the use of amniocentesis.

The nurse is caring for a client who tried for many months to become pregnant but then suffered a spontaneous abortion (miscarriage) during her first trimester. What is the most likely etiology of the client's abortion? a) The fetus was female and possessed an x-linked disorder. b) The fetus had a chromosomal disorder. c) The client was unknowingly exposed to environmental toxins before she learned she was pregnant. d) The fetus was exposed to radiation.

The fetus had a chromosomal disorder. Chromosomal abnormalities are thought to cause around half of first-term abortions. For most women, this possibility is a much more likely cause of abortion than radiation or toxins. X-linked disorders are not thought to be a major cause of spontaneous abortion.

A woman delivered a child with a cleft palate. What will the nurse teach the mother about possible genetic causes? a) This can be caused by an X-linked crossover problem. b) This can be caused by multiple gene mutations during fetal development. c) There can come from extra sets of chromosomes. d) This comes from s a dominant gene expression.

This can be caused by multiple gene mutations during fetal development. Multifactorial inheritance disorders involve multiple genes and also environmental factors during fetal development. The mutation is unrelated to dominant or recessive or inheritance patterns. Cleft palate is a somatic cell abnormality that occurs at about the 35th day of gestation, and it does not affect the X chromosome. The chromosome number in each cell is unaffected by multifactorial inheritance.

The pregnant patient asks if there are any precautions she should take in caring for the family cat. The nurse explains that she should limit contact with the cat's litter box. The litter box may contain which of the following organisms that can cause fetal malformations?

Toxoplasmosis The domestic cat can carry the organism toxoplasma gondii, excreting the protozoa in its feces. It has been suggested that pregnant women should avoid contact with excrement from the family cat. The other options are infectious teratogenic agents, but are not carried by cats.

The person's phenotype can best be described as which of the following?

Traits that are observable or apparent Phenotype is the observable expression of a genotype in terms of morphologic, biochemical or moecular traits. The genetic makeup of an individual is known as a genotype. If the trait is expressed in the heterozygote (one member of the gene pair codes for the trait), it is said to be dominant. If it is expressed only in the homozygote (both members of the gene pair code for the trait), it is recessive.

The genetic counselor is explaining structural changes in chromosomes that result from breakage and rearrangement of chromosome parts. The pattern that occurs when there are simultaneous breaks in two chromosomes, from different pairs, with exchange of chromosome parts is which of the following? a) Isochromosome formation b) Inversion c) Ring formation d) Translocation

Translocation Translocation occurs when there are simultaneous breaks in two chromosomes, from different pairs, with exchange of chromosome parts. -Isochromosome formation occurs when the centromere, or central portion, of the chromosome, separates horizontally instead of vertically. -Ring formation results when deletion is followed by uniting of the chromatids to form a ring. -Inversion requires two breaks on a single chromosome with inversion to the opposite side of the centromere or with the fragment inverting but remaining on the same arm.

The provider is doing genetic counseling with a patient. He explains that which of the following conditions affects only females?

Turner syndrome Turner syndrome describes an absence of all (45, X/0) or part of the X chromosome and, as such, is seen only in females. Kleinfelter syndrome is a condition of testicular dysgenesis accompanied by the presence of one or more extra X chromosomes in excess of the normal XY complement. Most males with Kleinfelter syndrome have one extra X chromosome (47, XXY). Down syndrome, trisomy 21, can be seen in either sex. Fragile X syndrome, as with other X-linked disorders, affects boys more often than girls.

The provider receives fetal karotype results on one of his patients. The karotype describes an absence of all or part of the X chromosome. Which condition does the fetus exhibit?

Turner syndrome Turner syndrome is caused by an absence of all or part of the X chromosome. Down syndrome is a trisomy 21. Klinefelter syndrome is a condition of testicular dysgenesis accompanied by the presence of one or more extra X chromosomes in excess of the normal XY complement. Achrondroplasia is a single-gene inheritance disorder.

While examining a patient, the practitioner notices large, flat, cutaneous pigmentations. They are a uniform light brown with sharply demarcated edges. He uses a Wood lamp to better detect the lighter spots. The practitioner knows that the pigmentations may be a component of which disorder? a) Down syndrome b) Klinefelter syndrome c) Cystic fibrosis d) Von Recklinghausen disease

Von Recklinghausen disease A second major component of type 1 neurofibromatosis, or von Recklinghausen disease, is the presence of large, flat cutaneous pigmentations known as cafe' au lait spots. A Wood lamp, which uses ultraviolet light, can be used to detect lighter spots. - The other options are chromosomal disorders and do not exhibit these pigmentations.

A child has been diagnosed with NF-1. The nurse is aware that the child is at risk for: Select all that apply.

• Learning disabilities • Attention deficit • Tonic-clonic seizures Children with NF-1 are also susceptible to neurologic complications. There is an increased incidence of learning disabilities, attention deficit disorders, and abnormalities of speech. Complex partial and generalized tonic-clonic seizures are a frequent complication. NF-1 is also associated with increased incidence of other neurogenic tumors, including meningiomas, optic gliomas, and pheochromocytomas.

The nurse is preparing a presentation on disorders of organ systems associated with mitochondrial DNA (mtDNA) mutations. Which disorders will she include? Select all that apply. a) Oculocutaneous albinism b) Kearns-Sayre syndrome c) Myoclonic epilepsy with ragged red fibers d) Duchenne dystropy e) Leigh disease

• Leigh disease • Kearns-Sayre syndrome • Myoclonic epilepsy with ragged red fibers mtDNA mutations frequently affect the neuromuscular system. Leigh disease, Kearns-Sayre syndrome and myoclonic epilepsy with ragged red fibers are all mtDNA disorders. -Oculocutaneous albinism is an autosomal dominant single-gene inheritance disorder and Duchenne dystropy is an x-linked recessive single-gene inheritance disorder.

Which of the following variables determine the extent of teratogenic drug effects? Select all that apply. a) Molecular weight of the drug b) Fetal blood type c) Maternal health history d) Duration of drug exposure e) Stage of pregnancy when the drug was taken

• Molecular weight of the drug • Duration of drug exposure • Stage of pregnancy when the drug was taken The nature and extent of teratogenic effects are the result of numerous factors, including the timing and molecular weight of the drug and the gestational age of the embryo or fetus. -Fetal blood type and the health history of the mother are not key variables.

A nurse is providing dietary information to a mother of an infant with phenylketonuria. Which of the following foods should the nurse include as foods to avoid? Select all that apply. a) Nuts b) Pasta c) Aspartame d) Milk

• Nuts • Aspartame • Milk Infants with phenylketonuria are treated with a diet that restricts phenylalanine intake, which is found in animal and vegetable proteins as well as aspartame. Foods to avoid include nuts, aspartame, milk, pasta, red meats, fish, chicken, and soybeans.