Gaps in the Assessment and Care of Neurodevelopmental and Psychiatric Conditions Associated With Dystrophinopathy.

Introduction/aims: While dystrophinopathies are primarily characterized by progressive muscle weakness with onset during childhood, dystrophin also plays a role in brain development. This study aimed to characterize how neurodevelopmental and psychiatric disorders are currently identified and managed in clinical care of those with Becker and Duchenne muscular dystrophy (BDMD).

Methods: Parent Project Muscular Dystrophy (PPMD) disseminated surveys to caregivers and health care providers (HCPs) in the United States to assess the frequency and management of neurodevelopmental and psychiatric disorders of those with dystrophinopathy.

Role Attainment in Emerging Adulthood: Subjective Evaluation by Male Adolescents and Adults with Duchenne and Becker Muscular Dystrophy.

Background: Youth with Duchenne and Becker muscular dystrophy (DBMD) experience challenges in attaining adult roles, which may impact quality of life. New interventions and treatments may facilitate adult role attainment through improved function. Historical data on adult role attainment is important to assess the impact of new interventions on teens and young adults with DBMD.

Current Practices in Treating Cardiomyopathy and Heart Failure in Duchenne Muscular Dystrophy (DMD): Understanding Care Practices in Order to Optimize DMD Heart Failure Through ACTION.

Cardiac disease has emerged as a leading cause of mortality in Duchenne muscular dystrophy in the current era. This survey sought to identify the diagnostic and therapeutic approach to DMD among pediatric cardiologists in Advanced Cardiac Therapies Improving Outcomes Network. Pediatric cardiology providers within ACTION (a multi-center pediatric heart failure learning network) were surveyed regarding their approaches to cardiac care in DMD.

Current state of cardiac troponin testing in Duchenne muscular dystrophy cardiomyopathy: review and recommendations from the Parent Project Muscular Dystrophy expert panel.

Cardiac disease is now the leading cause of death in Duchenne muscular dystrophy (DMD). Clinical evaluations over time have demonstrated asymptomatic cardiac troponin elevations and acute elevations are associated with symptoms and cardiac dysfunction in DMD. Clinicians require a better understanding of the relationship of symptoms, troponin levels and progression of cardiac disease in DMD.

Conference report on contractures in musculoskeletal and neurological conditions.

Limb contractures are debilitating complications associated with various muscle and nervous system disorders. This report summarizes presentations at a conference at the Shirley Ryan AbilityLab in Chicago, Illinois, on April 19-20, 2018, involving researchers and physicians from diverse disciplines who convened to discuss current clinical and preclinical understanding of contractures in Duchenne muscular dystrophy, stroke, cerebral palsy, and other conditions. Presenters described changes in muscle architecture, activation, extracellular matrix, satellite cells, and muscle fiber sarcomeric structure that accompany or predispose muscles to contracture.

Using an Online, Modified Delphi Approach to Engage Patients and Caregivers in Determining the Patient-Centeredness of Duchenne Muscular Dystrophy Care Considerations.

To determine the patient-centeredness of endocrine and bone health Duchenne muscular dystrophy (DMD) care considerations using the RAND/PPMD Patient-Centeredness Method (RPM), which is a novel, online, modified-Delphi approach to engaging patients and caregivers in clinical guideline development. We solicited input on the patient-centeredness of care considerations from 28 individuals with DMD and 94 caregivers, randomly assigned to 1 of 2 mixed panels. During a 3-round online modified-Delphi process, participants rated the importance and acceptability of 19 DMD care considerations (round 1), reviewed and discussed the initial results (round 2), and revised their original ratings (round 3).

Practical Considerations in Using Online Modified-Delphi Approaches to Engage Patients and Other Stakeholders in Clinical Practice Guideline Development.

Patients and caregivers are increasingly recognized as key stakeholders in developing clinical practice guidelines (CPGs). Online engagement approaches offer the promise of a rigorous, scalable, and convenient engagement method. This paper illustrates how an online modified-Delphi approach could be used to engage patients, caregivers, and other stakeholder in CPG development.

Patient and caregiver perspectives on guideline adherence: the case of endocrine and bone health recommendations for Duchenne muscular dystrophy.

Background: Clinical care guidelines are typically developed by clinicians and researchers. Including patient and caregiver voices in guideline development may help create guidelines that are more useful for patients and consequently improve their guideline adherence. Although there is substantial research on the factors the affect providers' adherence to guidelines, there is less research on the factors that affect patients' compliance with guideline recommendations, especially among those with rare disorders.

Management of Adrenal Insufficiency Risk After Long-term Systemic Glucocorticoid Therapy in Duchenne Muscular Dystrophy: Clinical Practice Recommendations.

Long-term glucocorticoid therapy has improved outcomes in patients with Duchenne muscular dystrophy. However, the recommended glucocorticoid dosage suppresses the hypothalamic-pituitary-adrenal axis, leading to adrenal insufficiency that may develop during severe illness, trauma or surgery, and after discontinuation of glucocorticoid therapy. The purpose of this review is to highlight the risk of adrenal insufficiency in this patient population, and provide practical recommendations for management of adrenal insufficiency, glucocorticoid withdrawal, and adrenal function testing.

Participant experiences with a new online modified-Delphi approach for engaging patients and caregivers in developing clinical guidelines.

Background: Patient engagement in clinical practice guideline (CPG) development has increased significantly in recent years. However, only a few patients and caregivers join CPG development groups.

Objective: To describe participant experiences with a novel online, scalable approach for patient and caregiver engagement in CPG development.

The RAND/PPMD Patient-Centeredness Method: a novel online approach to engaging patients and their representatives in guideline development.

Although clinical practice guidelines (CPGs) provide recommendations for how best to treat a typical patient with a given condition, patients and their representatives are not always engaged in CPG development. Despite the agreement that patient participation may improve the quality and utility of CPGs, there is no systematic, scalable method for engaging patients and their representatives, as well as no consensus on what exactly patients and their representatives should be asked to do during CPG development. To address these gaps, an interdisciplinary team of researchers, patient representatives, and clinicians developed the RAND/PPMD Patient-Centeredness Method (RPM) - a novel online approach to engaging patients and their representatives in CPG development.

Evaluating Implementation of the Updated Care Considerations for Duchenne Muscular Dystrophy.

Care Considerations for Duchenne Muscular Dystrophy were published in 2010. However, little is known about the extent to which these considerations were implemented after publication. With this article, we provide direction on evaluating the uptake of the 2018 Duchenne Muscular Dystrophy Care Considerations.

Psychosocial Management of the Patient With Duchenne Muscular Dystrophy.

In this article, we outline a comprehensive plan for the psychosocial management of patients with Duchenne muscular dystrophy (DMD) across the life span. In 2010, the Centers for Disease Control and Prevention sponsored the development of multidisciplinary management guidance for DMD, and in 2018, that guidance was updated. In the intervening years, a new emphasis was placed on studying and addressing the psychosocial issues that affect patients with DMD, driven in part by improved patient survival.

Primary Care and Emergency Department Management of the Patient With Duchenne Muscular Dystrophy.

Primary care providers (PCPs) are usually the first point of contact with the health care system for patients with Duchenne muscular dystrophy (DMD), and patients often present to emergency departments in which providers have little experience in dealing with this condition. With this article, we give primary care and emergency medicine providers a background in the common issues that affect people with DMD. By acquiring some specialized knowledge about the multisystem medical complications of DMD and by applying general principles of primary care, such as timely immunization, anticipatory safety counseling, behavioral screening, and routine nutritional and developmental assessments, the PCP can be a valued and effective medical provider to patients with DMD.

Cardiac Management of the Patient With Duchenne Muscular Dystrophy.

Duchenne muscular dystrophy (DMD) results in a progressive cardiomyopathy that produces significant morbidity and mortality. To improve the quality of life in patients with DMD, cardiac care is focused on surveillance and management, with the goal of slowing the onset and progression of heart failure complications. The current article is intended to be an expanded review on the cardiac management data used to inform the 2018 DMD Care Considerations recommendations as well as be a discussion on clinical controversies and future management directions.

Health Care Transition Experiences of Males with Childhood-onset Duchenne and Becker Muscular Dystrophy: Findings from the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) Health Care Transitions and Other Life Experiences Survey.

As the proportion of males with Duchenne muscular dystrophy (DMD) surviving into adulthood increases, more information is needed regarding their health care transition planning, an essential process for adolescents and young adults with DMD. The objective of this study was to describe the health care transition experiences of a population of males living with Duchenne or Becker muscular dystrophy (DBMD). The eligible participants, identified through the Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet) surveillance project, were 16-31 years old and lived in Arizona, Colorado, Georgia, Iowa, or western New York (n=258).

Unique Burdens of Pediatric Clinical Trials in Duchenne Muscular Dystrophy, April 20-21, 2017, Bethesda, Maryland, USA.

Recent increases in the number and breadth of clinical trials for patients with Duchenne muscular dystrophy (DMD) have engendered hope for a better future. Despite the overall enthusiasm by the DMD community for these trials, however, the burdens and pressures that they place on children with Duchenne muscular dystrophy and their families have become painfully apparent. In order to identify, and mediate, these challenges, Parent Project Muscular Dystrophy (PPMD) sponsored a meeting to examine some of these issues more closely in Bethesda, Maryland, on April 20-21, 2017.

Collective Statement Regarding Patient Access to Approved Therapies from the Center Directors of Parent Project Muscular Dystrophy's Certified Duchenne Care Centers.

The dystrophinopathies (Duchenne [DMD] and Becker muscular dystrophy) are progressive diseases that until recently had no specific treatments. New FDA pathways to drug approval in rare diseases have resulted in a dramatic increase in the number of treatment trials for DMD and recently, two approved drugs. Health insurance policies for DMD products have been constructed with limited input from neuromuscular specialists directly involved in patient care and without patient input.

Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan.

Improvements in the function, quality of life, and longevity of patients with Duchenne muscular dystrophy (DMD) have been achieved through a multidisciplinary approach to management across a range of health-care specialties. In part 3 of this update of the DMD care considerations, we focus on primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Many primary care and emergency medicine clinicians are inexperienced at managing the complications of DMD.

Progression of Duchenne Cardiomyopathy Presenting with Chest Pain and Troponin Elevation.

Background: Improved neuromuscular and respiratory therapies have altered the natural history of Duchenne muscular dystrophy (DMD) such that the most common cause of mortality is progressive cardiomyopathy. Despite imaging evidence of progressive cardiomyopathy, troponin I (cTn) is not significantly elevated in asymptomatic DMD patients.

Results: We describe eight boys with DMD evaluated for acute chest pain (ACP) and found to have acute cTn elevation with depressed left ventricular ejection fraction (LVEF).