Etiology of Down syndrome:
- Down syndrome is primarily caused by an error in cell division, resulting in an extra copy of chromosome 21.
- There are three main types of Down syndrome: trisomy 21, translocation Down syndrome, and mosaic Down syndrome.
- Trisomy 21 is the most common type and occurs when there is an extra copy of chromosome 21 in every cell.
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Questions on Etiology of Down syndrome:
Correct Answer is C
Explanation
Down syndrome is not primarily due to a deletion of chromosome 18.
Deletion of chromosome 18 results in a different genetic disorder known as Edwards syndrome, not Down syndrome.
The primary genetic anomaly in Down syndrome is the presence of an extra chromosome 21.
Correct Answer is D
Explanation
No explanation
Correct Answer is ["A","B"]
Explanation
High muscle tone is not a common characteristic of Down syndrome.
In fact, low muscle tone (hypotonia) is more typical in individuals with Down syndrome and can affect their motor development and physical abilities.
Correct Answer is C
Explanation
The statement that "cognitive impairment in Down syndrome is caused by a lack of social interaction" is not accurate.
Social interaction can be beneficial for individuals with Down syndrome, but the primary cause of cognitive impairment in Down syndrome is genetic, not social interaction.
Correct Answer is C
Explanation
The statement that "the primary health concern is related to a lack of physical activity" is not accurate.
While physical activity is essential for overall health, it is not the primary health concern associated with Down syndrome.
Congenital heart defects and other medical issues are more significant health concerns for individuals with this condition.
Correct Answer is A
Explanation
The statement that infants with Down syndrome have "perfectly symmetrical facial features" is not accurate.
Infants with Down syndrome typically have distinct facial features, including the upward slanting eyes and a flatter nasal bridge, which are characteristic of the condition.
Correct Answer is A
Explanation
Screening for heart defects and gastrointestinal abnormalities is crucial in the overall care of a child with Down syndrome.
However, in the context of the initial assessment of low muscle tone and joint laxity, evaluating growth parameters is more directly related to the observed physical findings.
Heart defects and gastrointestinal abnormalities can be assessed as part of a comprehensive evaluation but are not the primary focus at this stage.
Correct Answer is ["A","B","C","E"]
Explanation
Assessing the emotional well-being of the child and their family members is important as it can have a significant impact on the overall quality of life.
However, the assessment of emotional well-being should be conducted alongside the evaluation of other developmental aspects, as it is not a direct developmental milestone like cognitive abilities, social interactions, or sensory impairments.
Conducting DNA sequencing tests is not typically the first step in diagnosing Down syndrome.
The diagnosis is often based on clinical evaluation, including the physical examination of characteristic features, and confirmed through genetic testing such as karyotyping or chromosomal microarray analysi
Intellectual functioning and developmental milestones are the key areas that the nurse should consider during the assessment of a child with Down syndrome.
Children with Down syndrome often have unique cognitive profiles, and assessing their intellectual abilities and developmental progress is essen
Collaborating with therapists, addressing health conditions, and advocating for inclusive education are important interventions for individuals with Down syndrome, but they may not be the top priorities for promoting overall well-being.
These interventions focus more on specific domains of care, whe
Collaborating with healthcare providers and managing chronic health conditions is certainly important, but it is not the primary recommendation for supporting a child's development.
This choice focuses more on health management rather than developmental support, which is the main concern in this con
Monitoring and managing associated health conditions are essential in caring for individuals with Down syndrome.
This population is at an increased risk of various medical issues, including congenital heart defects, thyroid disorders, and gastrointestinal problems.
Regular monitoring and timely inte
Educating themselves about resources and available support networks is an essential step for parents of children with Down syndrome.
Knowledge empowers parents to advocate effectively for their child's rights and educational opportunities.
By understanding available resources and support networks, p
Facilitating communication and collaboration among healthcare providers is essential in managing associated health conditions in individuals with Down syndrome.
Effective communication among the healthcare team ensures that all aspects of the individual's care are addressed, and that interventions a
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Related Topics
- Stages of physical, cognitive, social and emotional development from infancy to adolescence - Common Pediatric Conditions
- Developmental milestones and screening tools - Common Pediatric Conditions
- Factors affecting growth and development - Common Pediatric Conditions
- Interventions to promote optimal development - Common Pediatric Conditions
- Conclusion - Common Pediatric Conditions
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