A nurse is caring for a newborn who was recently diagnosed with Tay-Sachs disease and observes the caregivers of the newborn crying in the room. Which of the following factors should the nurse identify as contributing to the caregivers' current emotional state?
Tay-Sachs disease is a progressive disease process with a maximum life span of 18 to 20 years.
Having Tay-Sachs disease means their child will never be able to have children of their own.
Having Tay-Sachs disease means their child cannot play sports due to possible heart conditions.
Tay-Sachs is a progressive disease in which the child usually dies before years of age.
The Correct Answer is D
A. Tay-Sachs disease is a progressive disease process with a maximum life span of 18 to 20 years: While this statement describes a serious progressive disease, it is inaccurate for Tay-Sachs, as the infantile form typically results in death much earlier, usually by 4–5 years of age, not late adolescence.
B. Having Tay-Sachs disease means their child will never be able to have children of their own: Fertility is not a central concern in the infantile form of Tay-Sachs, and this factor is not a primary contributor to caregiver grief immediately after diagnosis.
C. Having Tay-Sachs disease means their child cannot play sports due to possible heart conditions: Tay-Sachs does not primarily affect cardiac function; restrictions on activities like sports are not the main cause of caregiver distress in this context.
D. Tay-Sachs is a progressive disease in which the child usually dies before years of age: The early-onset form of Tay-Sachs leads to progressive neurodegeneration, loss of motor and cognitive function, and death typically by 4–5 years. Awareness of this prognosis is a major factor contributing to the caregivers’ grief and emotional response.
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Related Questions
Correct Answer is B
Explanation
A. Phenylketonuria (PKU): PKU is an inborn error of metabolism that typically does not present immediately at birth. Newborns are usually asymptomatic until phenylalanine accumulates, causing developmental delays if untreated, so refusal to feed on day 1 is not characteristic.
B. Galactosemia: Galactosemia is a metabolic disorder in which the newborn cannot properly metabolize galactose. Classic early signs include lethargy, vomiting, jaundice, and refusal to breast or bottle feed within the first days of life, making this the most likely diagnosis.
C. Beta thalassemia minor: This condition is generally asymptomatic and does not present with lethargy or feeding refusal in the newborn period. It usually manifests later with mild anemia.
D. Hepatoblastoma: Hepatoblastoma is a rare liver tumor that typically presents later in infancy with abdominal mass or hepatomegaly and does not cause lethargy or immediate feeding refusal in a 1-day-old newborn.
Correct Answer is A
Explanation
A. Prepare the child for venipuncture to obtain a blood sample for lead level testing: Confirming suspected lead poisoning requires measurement of a venous blood lead level. This diagnostic step is the priority because it establishes exposure severity and guides further management, including environmental interventions and possible chelation therapy.
B. Discuss the need for developmental assessments to evaluate the impact of lead exposure: Developmental evaluation is important because lead exposure can cause cognitive and behavioral effects, but it is addressed after confirming the diagnosis and determining the extent of exposure.
C. Document a detailed history of the child's growth and development, as well as manifestations of lead exposure: A thorough history supports overall assessment, but it does not take priority over obtaining objective laboratory confirmation needed to direct immediate care decisions.
D. Instruct the parents to remove peeling paint and clean dust in the home to reduce the risk of lead exposure: Environmental control measures are essential, but education and remediation should follow confirmation of lead exposure and collaboration with public health resources.
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