The following syndromes are due to chromosomal abnormalities:

Correct Answer: D

Rationale: In this question, the correct answer is D) Turner's syndrome. Turner's syndrome is a genetic condition caused by a missing or incomplete X chromosome in females. This chromosomal abnormality results in a variety of physical and developmental issues. Option A) Cri-du-chat syndrome is caused by a deletion on the short arm of chromosome 5, not a chromosomal abnormality involving sex chromosomes like Turner's syndrome. Option B) Kearns-Sayre syndrome is a mitochondrial DNA deletion syndrome, not a chromosomal abnormality involving sex chromosomes like Turner's syndrome. Option C) Marfan's syndrome is a genetic disorder caused by a mutation in the FBN1 gene, not a chromosomal abnormality involving sex chromosomes like Turner's syndrome. Educationally, understanding chromosomal abnormalities is crucial in pediatric nursing as it helps in identifying genetic conditions that can impact a child's health and development. Recognizing the specific syndromes associated with chromosomal abnormalities can guide healthcare professionals in providing appropriate care and support for affected patients and their families.

Correct Answer: D

Rationale: In the context of Ehlers-Danlos syndrome (EDS), the recognized feature of easy scarring (Option D) is correct. EDS is a group of genetic connective tissue disorders characterized by hyperextensible skin, joint hypermobility, and tissue fragility. Easy scarring is a common manifestation due to the underlying collagen abnormalities in EDS. Option A, mutation in the fibrillin gene, is incorrect as it is associated with Marfan syndrome, not EDS. Marfan syndrome involves abnormalities in the fibrillin-1 gene, leading to features like tall stature, arachnodactyly, and aortic root dilation. Option B, short stature, is not a typical feature of EDS. Individuals with EDS may actually have normal or even taller stature due to the effects of connective tissue laxity on skeletal growth. Option C, keratoconus, is also not a recognized feature of EDS. Keratoconus is a condition affecting the cornea, characterized by progressive thinning and cone-shaped protrusion. It is not directly related to EDS. Educationally, understanding the distinct clinical features of different genetic disorders is crucial for accurate diagnosis and management in pediatric nursing practice. Connecting specific manifestations to underlying genetic abnormalities enhances clinical reasoning skills and ensures appropriate care for patients with complex conditions like EDS.

Correct Answer: B

Rationale: In pediatric nursing, understanding the appropriate use of medications like sodium valproate in managing seizures is crucial. The correct answer, B) Infantile spasms, is not typically treated with sodium valproate due to its limited efficacy for this specific seizure type. Infantile spasms often require other medications or interventions for better control. Option A) Absences seizures are commonly managed with sodium valproate as it is effective for this type of seizure. Option C) Generalised clonic seizures and Option D) Myoclonic seizures also respond well to sodium valproate in many cases, making them inappropriate choices for the exception. Educationally, this question highlights the importance of understanding the nuances of pharmacological interventions in pediatric patients with seizures. It reinforces the need for nurses to be familiar with the specific indications and contraindications of medications like sodium valproate to provide safe and effective care to pediatric patients with varying seizure types.

Correct Answer: A

Rationale: The correct answer is A) Ehlers-Danlos Syndrome (vascular type IV). Aortopathy refers to a group of conditions affecting the aorta, including genetic connective tissue disorders like Ehlers-Danlos Syndrome. In this syndrome, there is a defect in collagen synthesis, leading to weakened blood vessel walls, potentially causing aortic dissection or aneurysm in children. B) Bicuspid aortic valve is a common congenital heart defect but is not directly associated with aortopathy. It can lead to aortic stenosis or regurgitation but does not primarily affect the aortic wall. C) Takayasu Arteritis is a rare inflammatory disease affecting large blood vessels like the aorta. It causes vessel inflammation, stenosis, or aneurysm, but it is not typically seen in children. D) Unrepaired coarctation of the aorta is a congenital heart defect characterized by narrowing of the aorta. While it can lead to aortic dilation, it is not a primary cause of aortopathy like Ehlers-Danlos Syndrome. Understanding these differential diagnoses is crucial for pediatric nurses to provide comprehensive care, especially in children with suspected aortopathy. Recognition of these conditions can guide appropriate management and interventions to prevent serious complications like aortic dissection or rupture.

Correct Answer: D

Rationale: In pediatric nursing, understanding the manifestations of infective endocarditis is crucial for early identification and appropriate management. The correct answer is D) Roth spots. Roth spots are retinal hemorrhages with pale centers that are indicative of systemic emboli, commonly seen in infective endocarditis due to bacterial vegetation breaking off and traveling to the eyes. Option A) Intracranial hemorrhage is not typically associated with infective endocarditis in children. It may be seen in conditions like trauma or bleeding disorders. Option B) Conjunctival hemorrhages are not specific to infective endocarditis and can be seen in various conditions, including trauma or systemic diseases affecting coagulation. Option C) Glomerulonephritis is not a typical finding in infective endocarditis. It can occur as a complication of certain infections, but it is not a characteristic feature of infective endocarditis. Educationally, understanding the signs and symptoms of infective endocarditis in pediatric patients is essential for nurses to provide timely care. Teaching about specific physical examination findings like Roth spots can aid in early recognition and prompt referral for diagnosis and treatment, ultimately improving patient outcomes. Nurses should be well-versed in the differential diagnosis of symptoms to ensure accurate assessment and intervention in pediatric cardiovascular cases.