MORE FROM THE STACKS
EDITOR’S NOTE: There are thousands of journals published around the world that relate to the disability community. It is virtually impossible to capture even a fraction of them. HELEN receives "stacks" of journals and selectively earmarks what we feel are "must read" articles of interest for our readers. It's a HELEN perk!
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Editor’s Note Regarding the Following Article: People with disabilities are often victims of "polypharmacy." The best ways to address this is at the beginning—at the point of prescribing. This article relates to the person-centered practice of conscientious prescribing guidelines and how it embodies both the art and science of medication related decisions. (Rick Rader, MD, HELEN Editor-in-chief)
From Optimization to Wisdom: Fostering a Patient-centered Professional Identity
By Diego Lima Ribeiro (ASME Publications - First published: 07/09/2025)
https://doi.org/10.1111/medu.15767
Funding information: None reported
The recently published realist review on teaching person-centred care through Medicines Optimization (MO)1 offers a timely and welcome contribution to the field. It explores how medical educators can teach medication-related decisions (including prescribing and deprescribing) as both technical skills and patient-centred practices. The authors advocate for an approach that prioritizes thoughtful clinical reasoning rooted in person-centred care, rather than procedural competence alone.
This commentary extends that perspective by arguing that prescribing is not just a routine, automated task. It is a critical point where clinical reasoning, moral judgement and emotional regulation converge, challenging students to integrate these dimensions in real-time decisions. Prescribing compels learners to navigate uncertainty, conflicting values and the responsibilities of patient-centred care and in doing so, serves as an entry point into their professional identity formation. To foster this development, we must go beyond teaching pharmacology or prescribing guidelines. As medical educators, we must cultivate pedagogies that support students as cognitive, moral and emotional agents.
Prescribing compels learners to navigate uncertainty, conflicting values and the responsibilities of patient-centered care.
To begin, consider the cognitive dimension of prescribing. Before a prescription is written, students must engage in clinical reasoning and reach a diagnosis. Clinical reasoning is not just memorizing guidelines or following a diagnostic checklist.2 Rather, it is a dynamic process of pattern recognition and analytical thinking that enables physicians to navigate clinical uncertainty toward a reasoned diagnosis. Students soon realize that foundational knowledge—while necessary—is insufficient. They must interpret the signs and symptoms in complex, real-world contexts, often while trying to avoid cognitive bias. Clinical reasoning demands the constant integration of prior knowledge with new evidence, as well as the ability to revisit and reassess assumptions. For example, imagine John, a 60-year-old man presenting with acute chest pain. The student must distinguish among a myocardial infarction, aortic dissection or a panic attack. After arriving at a diagnosis, the complexity deepens: Treatment decisions must balance clinical evidence with contextual factors. If thrombolytics are indicated, the risks must be weighed in light of John's specific case. At this point, a second dimension, which runs parallel to and transcends the clinical aspects of care arises—moral judgement.
Clinical reasoning demands the constant integration of prior knowledge with new evidence, as well as the ability to revisit and reassess assumptions.
From cognitive complexity emerges the question: What is the right thing to do for this person? Moral judgement begins with intuitive responses—gut feelings about what seems right or wrong—can shift into deliberate moral reasoning when emotionally charged situations expose value conflicts.3 In the case of John, diagnosed with ST-elevation myocardial infarction (STEMI) in a setting without percutaneous coronary intervention, the student must decide whether to prescribe thrombolytics. How should they communicate the bleeding risk? How can they align clinical urgency with the patient's understanding of acceptable risk? These are not communication challenges; they are moral negotiations requiring humility, sensitivity to the patient's perspective and responsibility. The student must act within their limits while recognizing the patient's central role in decision-making. Thus, the challenge for students is not only to reason well but also to remain morally present in a space where values may collide and certainty is absent. Prescribing, in this sense, becomes not just a clinical task but a moral endeavour. When we, as educators, recognize morally complex decisions as tensions to explore rather than puzzles to be solved, we invite students into reflective practice. With appropriate support, these moments can foster professional identity formation.4 Without it, the resulting tension can crystallize into dissonance, distress or quiet detachment.
Prescribing, in this sense, becomes not just a clinical task but a moral endeavour.
Intertwined with clinical reasoning and moral judgement is the emotional dimension. Prescribing is emotionally charged, particularly in high-stakes or uncertain situations. In John's case, the student often faces insecurity (e.g. unsure whether EKG truly confirms a STEMI), pressure (e.g. time to thrombolytic therapy is crucial) and the possibility of harm (e.g. risk of catastrophic bleeding). Fear of harming the patient, guilt over uncertain calls and anxiety about how others might judge their competence may surface, yet students often feel compelled to appear confident. They may suppress these feelings (surface acting) or attempt to embody expected emotions (deep acting), leading to dissonance. Over time, such emotional labour can result in detachment and compassionate fatigue, distancing learners from patient-centred care.5 But when we make space to name, explore and reflect upon emotional reactions, these moments may become educationally generative. Emotions can serve as signposts of meaning, not threats to professionalism.6 In this light, the emotional presence is not peripheral—it is central to the doctor one wants to become.
Emotions can serve as signposts of meaning, not threats to professionalism.
Prescribing brings together clinical reasoning, moral judgement and emotional regulation—not as separate domains, but as interwoven threads in clinical action. When students engage all three dimensions in the face of real uncertainty, these experiences can become a powerful trigger of transformative learning. The original article highlights transformative learning as a product of curricular alignment and interprofessional exposure. While these structural supports matter, we argue that transformation arises from encounters with uncertainty: When students must act despite doubt, question core beliefs or feel dissonance between what they think, feel and are expected to do. These crucial moments invite a shift from absorbing knowledge to becoming the kind of doctor one aspires to be. Supporting this shift calls for medical educators who recognize prescribing as a site of phronesis—practical wisdom.7 Phronesis, in Aristotelian terms, is the art of making practical, wise decisions in the face of moral complexity and practical uncertainty. It is cultivated not by standardization but through mentorship, trust relationship and reflective dialogue. As medical educators, we foster phronesis when we share our own doubts in clinical reasoning, acknowledge our struggles with moral judgement and talk honestly about the emotions that arise in patient care. In doing so, we may help students see that being a good doctor involves not just knowing what to do but also how to act with care and purpose.
Prescribing, then, offers more than a technical challenge; it offers a window into who students are becoming. If we teach it as a practice of formation—not only through systems but also through dialogical mentorship and emotional presence—we may form not just competent prescribers but responsible, compassionate and truly person-centred physicians.
This commentary joins the realist review in affirming the importance of curricular and interprofessional design. At the same time, we also invite our fellow medical educators to consider a complementary question: How might we teach prescribing not only as a skill but also as a space for reflection on the judgements we make and the emotions we carry in clinical care? Such a shift calls for reflective mentorship, emotional honesty and the courage to engage complexity rather than bypass it.
Child Walks Again After Receiving Experimental Treatment for Rare Genetic Condition
By Marissa Russo (07/09/2025)
In what experts are calling a “dream come true,” scientists used a recent biochemical discovery to help an eight-year-old boy with a rare genetic condition regain mobility.
Researchers from NYU Langone demonstrated, in a study published in Nature on Wednesday, how a chemical precursor to a commonly available enzyme, CoQ10, can help brain cells overcome a rare genetic condition that severely hobbles cells’ energy production process. Without treatment, the boy’s condition is known to deteriorate rapidly and could be fatal.
“That is basic science translating into clinical medicine, a dream come true,” Navdeep Chandel, a professor of medicine at Northwestern University, told STAT. He was not involved in the study.
This study revolves around science’s understanding of how cells produce energy — a task performed by the so-called powerhouse of the cell, the mitochondria. To make energy, the mitochondria needs coenzyme Q10 (CoQ10). A rare genetic deficiency could interfere with body’s ability to make the enzyme, causing HPDL deficiency — a fatal condition characterized by spastic movements, neurodevelopmental delays, and even paralysis.
HPDL deficiency can be hereditary — when a child inherits two copies of the mutated HPDL gene, one from each parent. This progressive childhood-onset movement disorder has multiple variants that can result in different ages of onset, clinical presentations, and survival. Children with the most severe clinical presentations of this disease die at a median age of 18 months. In the case of the boy that NYU Langone neurologists treated, he did not have the onset of symptoms until later into his childhood, despite having inherited the mutated HPDL gene.
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For years, physicians have been trying to treat such conditions in which mitochondrial function is reduced by supplementing the body with CoQ10 enzyme. Found on most pharmacy shelves, CoQ10 is a wellness supplement that can help with heart health, energy, and brain health, though the Food and Drug Administration has not approved CoQ10 for treating any medical condition.
“The treatment was based on a recent biochemical discovery partly funded by NIH.”
“It’s safe. It’s reasonably effective at treating symptoms outside of the brain, but almost completely ineffective at treating symptoms within the brain, because it doesn’t get through the blood-brain barrier,” said Michael Pacold, an associate professor of radiation oncology at NYU Langone and one of the study authors.
Think of the blood-brain barrier as the brain’s plastic wrap — keeping harmful chemicals out. But it’s almost too good because many drugs cannot penetrate it. That’s where Pacold’s lab’s earlier discovery helped. In a 2021 study, it discovered one of the first steps to how the cell makes CoQ10. This involves the HPDL gene and its role in making 4-HB — an essential building block cells need to make CoQ10.
Pacold and his team found that 4-HB, the precursor to CoQ10, could not only cross the blood-brain barrier and reach the brain, but it was able to restore standing and walking function in mice that had HPDL gene deficiency.
“Instead of giving CoQ10, we figured, why not give the cell the building blocks, so that the cell can make it itself?” Pacold told STAT.
The boy, who received the treatment, had normal development until August 2023, when he started displaying uncontrollable spastic movements in both of his ankles while playing soccer.
“Our son’s condition changed dramatically in a short period. He went from being the fastest runner in his class and an avid soccer player to struggling just to walk, often limping and experiencing frequent falls,” the boy’s parents said in an emailed response to questions from STAT. The family did not want the boy’s or their name used.
By November 2023, he could not stand on his own and needed a wheelchair. The family, who had lost two other children to the same genetic condition, contacted a physician who specializes in HPDL deficiency, and was connected with doctors and researchers at NYU.
Claire Miller, a pediatric neurologist at NYU Langone, and a team of neurologists met with Pacold to explore the possibility of administering the experimental treatment to the boy. Miller, also an author on the study, said the research data from Pacold’s team was “very convincing.” Researchers then got formal approval from the FDA on compassionate use grounds.
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Still, it was an experimental treatment that had only ever been tested in mice, and the family knew it could involve unknown risks. “It was one of the hardest decisions we’ve ever made, but doing nothing felt riskier,” the boy’s parents said. “We saw how quickly our son was declining and knew we had to act. After speaking with doctors and doing our research, we got hope and confidence to step into the unknown.”
Nineteen days after the family met with the team of neurologists and scientists, the boy received his first treatment — 4HB dissolved in water and taken orally. He has been tolerating the treatment well for over a year. He has enjoyed long walks, hikes, and even celebrated two birthdays, according to the researchers.
To Miller, who specializes in treating children with movement disorders, the boy’s recovery meant more than how effective the treatment was. “Movement is identity and personality,” she told STAT. “The beautiful thing about movement is that’s how we express our identities and our personalities.”
For researchers, this study is a breakthrough in the so-called bench-to-bedside pipeline — taking a basic biochemical discovery and translating it to a promising treatment for a rare and fatal childhood disease. “We all dream of this as scientists. And every morning I pinch myself … is this really a dream?” said Pacold.
Chandel, the Northwestern professor, pointed to how the fundamental discovery was made using a grant from the National Institute of Health.
“Now more than ever, when the NIH is thinking about cutting and slashing … here’s somebody who took a very basic biochemical approach, and they found the enzyme, and they found what the enzyme does, and they gave that enzyme to people who had genetic mutations. And it made a difference,” said Chandel.
Even as the researchers remain hopeful, they are cautious that this study reflects the story of just one individual with an HPDL deficiency. There is still much to be discovered when it comes to the onset of this rare HPDL deficiency and the crucial window of symptom development of this disorder during infancy.
“It takes both the discovery, yes, and people who are willing to take the risk,” said Pacold, who along with his team are already working up a larger clinical trial to encompass other HPDL variants, children across a wider age range, and fleshing out the best treatment regimen for 4-HB.
After the first month on the treatment, “a very happy child came into the lab and said, ‘When are you going to get this into a pill form, so it’s easier to take?’” said Pacold, “He’d apparently gone for over a 1-kilometer walk in Central Park the day before that.”
Measuring Nonmedical, Person-centred Outcomes for Home and Community-based Service Participants: Selecting and Defining Concepts
2025 Jul 18(3S):101847.
doi: 10.1016/j.dhjo.2025.101847. Epub 2025 May 2.
Sarita L Karon 1, Niveda Tennety 2, Bridgette M Schram 2, Steven Lutzky 3, Allen Heinemann 4, Anne Deutsch 5
Affiliations
PMID: 40368724
Abstract
Background: Quality measures can monitor whether home- and community-based services (HCBS) are delivered effectively and support the outcomes desired by persons served. Nonmedical, person-centered quality measures complement Medicaid's HCBS Quality Measure Set.
Objectives: (1) Determine the aspects of quality most important to HCBS recipients, (2) identify aspects of quality not included in quality outcome instruments, and (3) select and define aspects for new quality outcome measures.
Methods: A Participant Council representing HCBS recipients identified aspects of quality important to them. We reviewed person-centered instruments to identify gaps in coverage of concepts related to the National Quality Forum's HCBS quality domains of choice and control, community inclusion, and holistic health and function. Focusing on concepts prioritized by the Participant Council, we identified gaps in current instruments defined as: (1) no instrument addresses the concept; (2) measures not person-centered; (3) measures not outcome-focused; or (4) measures lack evidence of adequate reliability and validity across HCBS populations.
Results: We defined 18 concepts for which adequate measures are lacking and selected nine for further development, including choice and control over (1) living arrangement, (2) how time is spent, (3) money, (4) important relationships, (5) personal expression (6) food and nutrition, and (7) healthcare and health; as well as (8) dignity of risk; and (9) community engagement.
Conclusions: Despite the existence of many HCBS instruments, there remains a need for nonmedical, person-centered concepts to complement Medicaid's HCBS Quality Measure Set. Next steps are to develop and test items that measure these nine concepts.
Copyright © 2025 Elsevier Inc. All rights reserved.