,South College NSG 5442 Final Exam | Pediatric Primary Care
(2026) Q&A
1. A 2-week-old infant is brought to the clinic for a follow-up visit. The primary care pediatric
nurse practitioner notes a large posterior fontanelle and a heart rate of 110 beats per
minute. Which condition should the practitioner suspect?
A) Congenital hypothyroidism
B) Cystic fibrosis
C) Phenylketonuria
D) Galactosemia
Correct Answer: Congenital hypothyroidism
Rationale: A large posterior fontanelle is a classic sign of congenital hypothyroidism, along
with other findings such as hypotonia, constipation, and prolonged jaundice. Newborn
screening is essential for early detection. Cystic fibrosis typically presents with meconium
ileus or failure to thrive, PKU presents with developmental delay and musty odor, and
galactosemia presents with vomiting, diarrhea, and failure to thrive after milk ingestion.
2. A child is diagnosed with neurofibromatosis type 1. Which clinical finding is most
consistent with this diagnosis?
A) Tall stature and long limbs
B) Six or more café-au-lait macules
C) Joint hypermobility and skin elasticity
D) Macrocephaly and frontal bossing
Correct Answer: Six or more café-au-lait macules
Rationale: Neurofibromatosis type 1 is an autosomal dominant disorder characterized by
the presence of six or more café-au-lait macules, among other findings. Tall stature and long
,limbs are associated with Marfan syndrome, joint hypermobility and skin elasticity with
Ehlers-Danlos, and macrocephaly with frontal bossing with achondroplasia.
3. The primary care pediatric nurse practitioner is providing genetic counseling to a family
with a child with sickle cell disease. Which statement about the inheritance pattern is
correct?
A) The child inherited one affected gene from each parent
B) The child inherited one affected gene from one parent
C) The child has a new mutation
D) The child's siblings have a 50% chance of being affected
Correct Answer: The child inherited one affected gene from each parent
Rationale: Sickle cell disease is an autosomal recessive disorder. The child must inherit an
affected gene from both parents (who are typically carriers) to have the disease. Siblings
have a 25% chance of being affected, not 50%. The child did not inherit from only one
parent, and it is not typically a new mutation.
4. A child with Marfan syndrome is being evaluated. Which cardiac intervention is most
important for the primary care pediatric nurse practitioner to monitor?
A) Beta-blockers or ARBs to reduce aortic stress
B) Digoxin to improve cardiac output
C) Diuretics to manage fluid overload
D) Anticoagulation to prevent thrombosis
Correct Answer: Beta-blockers or ARBs to reduce aortic stress
Rationale: Marfan syndrome is associated with aortic root dilation, which can lead to
dissection. Beta-blockers or angiotensin receptor blockers (ARBs) are used to reduce aortic
stress and slow the progression of aortic dilation. Digoxin, diuretics, and anticoagulation are
not the primary interventions for Marfan syndrome.
, 5. A child with hemophilia is being managed in the primary care setting. Which medication
should be avoided due to the risk of bleeding?
A) Acetaminophen
B) Ibuprofen
C) Antibiotics
D) Antihistamines
Correct Answer: Ibuprofen
Rationale: Ibuprofen and other non-steroidal anti-inflammatory drugs (NSAIDs) inhibit
platelet function and increase the risk of bleeding in children with hemophilia.
Acetaminophen is the preferred analgesic for pain management. Antibiotics and
antihistamines do not directly increase bleeding risk.
6. A child is diagnosed with Duchenne muscular dystrophy. Which finding is most consistent
with this diagnosis?
A) Delayed motor milestones and calf pseudohypertrophy
B) Progressive weakness starting in the face and neck
C) Normal early development with late-onset weakness
D) Joint contractures and skin changes
Correct Answer: Delayed motor milestones and calf pseudohypertrophy
Rationale: Duchenne muscular dystrophy is an X-linked recessive disorder characterized by
delayed motor milestones (e.g., late walking) and pseudohypertrophy of the calf muscles
due to fatty infiltration. Weakness typically begins in the pelvic girdle. Weakness starting in
the face and neck suggests other conditions.
7. The primary care pediatric nurse practitioner is assessing a child with a neural tube defect.
Which preventive measure is most important for future pregnancies?
(2026) Q&A
1. A 2-week-old infant is brought to the clinic for a follow-up visit. The primary care pediatric
nurse practitioner notes a large posterior fontanelle and a heart rate of 110 beats per
minute. Which condition should the practitioner suspect?
A) Congenital hypothyroidism
B) Cystic fibrosis
C) Phenylketonuria
D) Galactosemia
Correct Answer: Congenital hypothyroidism
Rationale: A large posterior fontanelle is a classic sign of congenital hypothyroidism, along
with other findings such as hypotonia, constipation, and prolonged jaundice. Newborn
screening is essential for early detection. Cystic fibrosis typically presents with meconium
ileus or failure to thrive, PKU presents with developmental delay and musty odor, and
galactosemia presents with vomiting, diarrhea, and failure to thrive after milk ingestion.
2. A child is diagnosed with neurofibromatosis type 1. Which clinical finding is most
consistent with this diagnosis?
A) Tall stature and long limbs
B) Six or more café-au-lait macules
C) Joint hypermobility and skin elasticity
D) Macrocephaly and frontal bossing
Correct Answer: Six or more café-au-lait macules
Rationale: Neurofibromatosis type 1 is an autosomal dominant disorder characterized by
the presence of six or more café-au-lait macules, among other findings. Tall stature and long
,limbs are associated with Marfan syndrome, joint hypermobility and skin elasticity with
Ehlers-Danlos, and macrocephaly with frontal bossing with achondroplasia.
3. The primary care pediatric nurse practitioner is providing genetic counseling to a family
with a child with sickle cell disease. Which statement about the inheritance pattern is
correct?
A) The child inherited one affected gene from each parent
B) The child inherited one affected gene from one parent
C) The child has a new mutation
D) The child's siblings have a 50% chance of being affected
Correct Answer: The child inherited one affected gene from each parent
Rationale: Sickle cell disease is an autosomal recessive disorder. The child must inherit an
affected gene from both parents (who are typically carriers) to have the disease. Siblings
have a 25% chance of being affected, not 50%. The child did not inherit from only one
parent, and it is not typically a new mutation.
4. A child with Marfan syndrome is being evaluated. Which cardiac intervention is most
important for the primary care pediatric nurse practitioner to monitor?
A) Beta-blockers or ARBs to reduce aortic stress
B) Digoxin to improve cardiac output
C) Diuretics to manage fluid overload
D) Anticoagulation to prevent thrombosis
Correct Answer: Beta-blockers or ARBs to reduce aortic stress
Rationale: Marfan syndrome is associated with aortic root dilation, which can lead to
dissection. Beta-blockers or angiotensin receptor blockers (ARBs) are used to reduce aortic
stress and slow the progression of aortic dilation. Digoxin, diuretics, and anticoagulation are
not the primary interventions for Marfan syndrome.
, 5. A child with hemophilia is being managed in the primary care setting. Which medication
should be avoided due to the risk of bleeding?
A) Acetaminophen
B) Ibuprofen
C) Antibiotics
D) Antihistamines
Correct Answer: Ibuprofen
Rationale: Ibuprofen and other non-steroidal anti-inflammatory drugs (NSAIDs) inhibit
platelet function and increase the risk of bleeding in children with hemophilia.
Acetaminophen is the preferred analgesic for pain management. Antibiotics and
antihistamines do not directly increase bleeding risk.
6. A child is diagnosed with Duchenne muscular dystrophy. Which finding is most consistent
with this diagnosis?
A) Delayed motor milestones and calf pseudohypertrophy
B) Progressive weakness starting in the face and neck
C) Normal early development with late-onset weakness
D) Joint contractures and skin changes
Correct Answer: Delayed motor milestones and calf pseudohypertrophy
Rationale: Duchenne muscular dystrophy is an X-linked recessive disorder characterized by
delayed motor milestones (e.g., late walking) and pseudohypertrophy of the calf muscles
due to fatty infiltration. Weakness typically begins in the pelvic girdle. Weakness starting in
the face and neck suggests other conditions.
7. The primary care pediatric nurse practitioner is assessing a child with a neural tube defect.
Which preventive measure is most important for future pregnancies?
