Flashcards on Medical Ethics in Pediatric End-of-Life Care
Medical Ethics in Pediatric End-of-Life Care: A Guide
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Medical ethics
40 cards
Card 1
Question: What are mitochondrial DNA depletion syndromes (MDDS)?
Answer: Autosomal recessive oxidative phosphorylation disorders characterized by a reduction in mitochondrial DNA leading to severe clinical symptoms.
Card 2
Question: What mutation did Charlie Gard have and what protein does it affect?
Answer: A mutation in the RRM2B gene, which encodes the ribonucleotide reductase M2B subunit protein.
Card 3
Question: What were Charlie Gard's main clinical features?
Answer: Respiratory failure requiring a ventilator, tetraplegia with only occasional eye opening, epilepsy, and progressive decline leading to death.
Card 4
Question: What experimental treatment did Charlie's parents seek?
Answer: Experimental nucleoside replacement therapy previously used in patients with a different mitochondrial DNA depletion syndrome (TK2 mutation).
Card 5
Question: Why was the proposed nucleoside replacement therapy considered unproven for Charlie?
Answer: It had not been used for RRM2B-related MDDS; evidence existed only for TK2 mutations, which cause a myopathy rather than an epileptic encephalomyopath
Card 6
Question: What ethical principles are central to deciding whether to give an experimental therapy?
Answer: Beneficence (potential to benefit), nonmaleficence (avoid causing harm or prolonging suffering), and autonomy (or surrogate decision-making when the p
Card 7
Question: What does 'compassionate use' mean in this context?
Answer: Administration of an unproven therapy when efficacy for the specific condition is unclear, typically to try to help a patient with no other options.
Card 8
Question: What evidence suggested potential benefit of nucleoside replacement therapy?
Answer: In TK2 mutation cases it improved muscle strength and head support in a child and significantly prolonged lifespan in mice with TK2 deficiency.
Card 9
Question: Why might nucleoside replacement therapy not have helped Charlie despite benefits in TK2 cases?
Answer: TK2 mutations cause primarily myopathy, whereas Charlie had an RRM2B mutation causing epileptic encephalomyopathy — different disease manifestations m
Card 10
Question: What concern relates to nonmaleficence when considering experimental therapy for Charlie?
Answer: Even if the therapy had no known serious adverse effects, prolonging life could have extended Charlie's suffering given his severe, noncommunicative c