PEDS PRACTICE CHAPTER 27 NURSING
CARE OF THE CHILD WITH AN
ALTERATION IN GENETICS EXAM
QUESTION AND VALIDATED
ANSWERS(RATIONAL).
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.
The nurse has asked the client for a family history. This nursing assessment
is the first step in which aspect of genetic counseling? - CorreCt Answers -
establishing a pedigree
Nursing assessment of the client's health includes obtaining and recording
family history information in the form of a pedigree. This is a first step in
establishing the pattern of inheritance. The other answers are incorrect
because the pedigree is the nursing assessment. A nursing assessment of a
family history does not answer the client's genetic questions or the family's
relationship questions.
A nurse is counseling a couple who have a 5-year-old daughter with Down
syndrome. The nurse recognizes that their daughter's genome is
represented by which chromosone combination? - CorreCt Answers -
47XX21+
,In Down syndrome, the person has an extra chromosome 21, so this is
abbreviated as 47XX21+ (for a female) or 47XY21+ (for a male). 46XX is a
normal genome for a female. The abbreviation 46XX5p- is the abbreviation
for a female with 46 total chromosomes but with the short arm of
chromosome 5 missing (Cri-du-chat syndrome).
The incidence of Down syndrome is 1:1600 in women older than 40 years of
age, compared with 1:100 in women younger than 20 years. - CorreCt
Answers -False
The likelihood of having a baby with Down syndrome is around 1 in 1,000
in women younger than age 30, 1 in 353 at age 35, 1 in 85 at age 40, and 1 in
35 at age 45.
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? - CorreCt Answers -Musty or mousy odor to the urine
Children with phenylketonuria will have a musty or mousy odor to their
urine, as well as an eczema-like rash, irritability, and vomiting. Increased
reflex action and seizures are typical of maple sugar urine disease. Signs of
jaundice, diarrhea, and vomiting are typical of galactosemia. Seizures are a
sign of biotinidase deficiency or maple sugar urine disease.
The nurse is assessing a 3-year-old boy with Sturge-Weber syndrome.
Which finding is most indicative of the disorder? - CorreCt Answers -
Inspection reveals a port wine stain
Children with Sturge-Weber syndrome will have a facial nevus, or port wine
stain, most often seen on the forehead and one eye. While the child may
, experience seizures, retardation, and behavior problems, they are not
definitive findings.
A nurse is preparing a presentation for a group of nurses about genetic
discoveries and advances. When discussing this topic, the nurse would
most likely include which topic area related to the potential for misuse? -
CorreCt Answers -individual risk profiling and confidentiality
Individual risk profiling based on an individual's genetic makeup can raise
issues related to privacy and confidentiality. Gene replacement therapy for
defective genes and a greater emphasis on looking at the causes of disease
are considered benefits associated with genetic advances. Rapid, more
specific diagnosis of diseases would be possible.
A woman is to undergo karyotyping. The nurse best explains this testing as:
- CorreCt Answers -a picture-like analysis of the number, form, and size of
the woman's chromosomes.
Karyotyping is a pictorial analysis of the number, form, and size of an
individual's chromosomes. Genome is a representation of a person's genetic
blueprint. Genotype refers to the specific genetic makeup or gene pairs
inherited from one's parents. Phenotype refers to the observed outward
characteristics of an individual.
A woman is to undergo chorionic villus sampling as part of a risk
assessment for genetic disorders. What statement would the nurse include
when describing this test to the woman? - CorreCt Answers -"A small piece
of tissue from the fetal placenta will be removed and analyzed."
CARE OF THE CHILD WITH AN
ALTERATION IN GENETICS EXAM
QUESTION AND VALIDATED
ANSWERS(RATIONAL).
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.
The nurse has asked the client for a family history. This nursing assessment
is the first step in which aspect of genetic counseling? - CorreCt Answers -
establishing a pedigree
Nursing assessment of the client's health includes obtaining and recording
family history information in the form of a pedigree. This is a first step in
establishing the pattern of inheritance. The other answers are incorrect
because the pedigree is the nursing assessment. A nursing assessment of a
family history does not answer the client's genetic questions or the family's
relationship questions.
A nurse is counseling a couple who have a 5-year-old daughter with Down
syndrome. The nurse recognizes that their daughter's genome is
represented by which chromosone combination? - CorreCt Answers -
47XX21+
,In Down syndrome, the person has an extra chromosome 21, so this is
abbreviated as 47XX21+ (for a female) or 47XY21+ (for a male). 46XX is a
normal genome for a female. The abbreviation 46XX5p- is the abbreviation
for a female with 46 total chromosomes but with the short arm of
chromosome 5 missing (Cri-du-chat syndrome).
The incidence of Down syndrome is 1:1600 in women older than 40 years of
age, compared with 1:100 in women younger than 20 years. - CorreCt
Answers -False
The likelihood of having a baby with Down syndrome is around 1 in 1,000
in women younger than age 30, 1 in 353 at age 35, 1 in 85 at age 40, and 1 in
35 at age 45.
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? - CorreCt Answers -Musty or mousy odor to the urine
Children with phenylketonuria will have a musty or mousy odor to their
urine, as well as an eczema-like rash, irritability, and vomiting. Increased
reflex action and seizures are typical of maple sugar urine disease. Signs of
jaundice, diarrhea, and vomiting are typical of galactosemia. Seizures are a
sign of biotinidase deficiency or maple sugar urine disease.
The nurse is assessing a 3-year-old boy with Sturge-Weber syndrome.
Which finding is most indicative of the disorder? - CorreCt Answers -
Inspection reveals a port wine stain
Children with Sturge-Weber syndrome will have a facial nevus, or port wine
stain, most often seen on the forehead and one eye. While the child may
, experience seizures, retardation, and behavior problems, they are not
definitive findings.
A nurse is preparing a presentation for a group of nurses about genetic
discoveries and advances. When discussing this topic, the nurse would
most likely include which topic area related to the potential for misuse? -
CorreCt Answers -individual risk profiling and confidentiality
Individual risk profiling based on an individual's genetic makeup can raise
issues related to privacy and confidentiality. Gene replacement therapy for
defective genes and a greater emphasis on looking at the causes of disease
are considered benefits associated with genetic advances. Rapid, more
specific diagnosis of diseases would be possible.
A woman is to undergo karyotyping. The nurse best explains this testing as:
- CorreCt Answers -a picture-like analysis of the number, form, and size of
the woman's chromosomes.
Karyotyping is a pictorial analysis of the number, form, and size of an
individual's chromosomes. Genome is a representation of a person's genetic
blueprint. Genotype refers to the specific genetic makeup or gene pairs
inherited from one's parents. Phenotype refers to the observed outward
characteristics of an individual.
A woman is to undergo chorionic villus sampling as part of a risk
assessment for genetic disorders. What statement would the nurse include
when describing this test to the woman? - CorreCt Answers -"A small piece
of tissue from the fetal placenta will be removed and analyzed."
