Reliability and construct validity of the Duchenne Video Assessment.

INTRODUCTION: The Duchenne Video Assessment (DVA) assesses quality of movement as an indication of Duchenne muscular dystrophy (DMD) disease severity. Caregivers video record patients performing home-based movement tasks using a mobile application, and physical therapists (PTs) rate the videos using scorecards with prespecified compensatory movement criteria. Reliability and construct validity of the DVA were tested using video and Pediatric Outcomes Data Collection Instrument (PODCI) data from patients with DMD and healthy controls from a separate study. METHODS: Fifteen PTs were trained and certified as DVA raters. All raters scored videos of five subjects performing each movement task; nine raters rescored the same videos four weeks later. Three raters scored videos from an average of 25 subjects for each movement task. Aggregate scores were used to test construct validity. An expert DMD clinician assigned each video to a severity group for known-groups analyses. Differences between rater scores across severity groups were tested and correlations between DVA and PODCI scores were calculated. RESULTS: Inter-rater reliability (intraclass correlation coefficient [ICC]) between all 15 raters ranged from 0.70 to 0.97 for all movement tasks. Mean intra-rater reliability ICC for nine raters ranged from 0.82 to 0.98 for all movement tasks. There were statistically significant differences between known severity groups for all movement tasks. The DVA correlated strongly with related PODCI constructs of physical function and weakly with unrelated constructs. DISCUSSION: The DVA was found to be a reliable and valid tool for measuring quality of movement as an indication of disease severity.

School reopening during COVID-19 pandemic: Considering students with disabilities.

Over 80% of the children in the world have had their education impacted by COVID-19. For children with disabilities who receive special education services, access to in-person education and other resources at school is particularly important. The American Academy of Pediatrics advocates for students to attend school in person, without specifics for how children with disabilities can safely return to school. To appropriately plan and accommodate children with disabilities we must prioritize safety, allow for adherence to the Individuals with Disabilities Education Act, and preserve essential school staff. The less cumbersome default of confining students with disabilities to home is not acceptable. We provide an outline describing why Individual Education Plans and 504 plans are important, how they are related to the COVID-19 pandemic, and recommendations for measures to help with safe return to school for children with disabilities.

Rehabilitation Management of the Patient With Duchenne Muscular Dystrophy.

Steadily improving management of Duchenne muscular dystrophy (DMD) continues to lead to improved physical and functional status, allowing increasingly successful transitions to independence and self-actualization in adulthood. Rehabilitation principles remain key to overall management for individuals with DMD with increasing options for ever more successful management, reflecting a changing natural history based on the use of glucocorticoids, more consistent comprehensive care, and the emergence of disease-modifying treatments. Advances and expansion in assessment, cardiorespiratory management, preventive management of contracture and deformity, assistive technology, "smart" technology, and robotics with increased emphasis on function, participation, self-advocacy, and independence in decision-making should allow individuals with DMD to experience childhood and transition to adulthood with support that allows for increasing success in the achievement of individual goals and fulfillment across the life span.

Orthopedic and Surgical Management of the Patient With Duchenne Muscular Dystrophy.

Orthopedic care is an important aspect of the overall management of patients with Duchenne muscular dystrophy (DMD). In addition to progressive muscle weakness and loss of function, patients may develop joint contractures, scoliosis, and osteoporosis, causing fractures; all of these necessitate intervention by a multidisciplinary team including an orthopedic surgeon as well as rehabilitation specialists such as physio- and occupational therapists. The causes of these musculoskeletal complications are multifactorial and are related to primary effects on the muscles from the disease itself, secondary effects from weak muscles, and the related side effects of treatments, such as glucocorticoid use that affect bone strength. The musculoskeletal manifestations of DMD change over time as the disease progresses, and therefore, musculoskeletal management needs change throughout the life span of an individual with DMD. In this review, we target pediatricians, neurologists, orthopedic surgeons, rehabilitation physicians, anesthesiologists, and other individuals involved in the management of patients with DMD by providing specific recommendations to guide clinical practice related to orthopedic issues and surgical management in this setting.

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. The PCP can provide access to and effective coordination among the patient's specialty caregivers. Moreover, the PCP can become a trusted advisor to the patient and his family about important medical decisions, as well as issues in the psychosocial, behavioral, and educational domains. This article also contains a "pocket guide" used to assess and manage common urgent medical problems that cause patients with DMD to seek care in the emergency department. With the background information discussed in this article, both PCPs and emergency medicine physicians can skillfully care for patients with DMD in their respective settings, optimizing patient outcomes.

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. We provide a guide to the acute and chronic medical conditions that these first-line providers are likely to encounter. With prolonged survival, individuals with DMD face a unique set of challenges related to psychosocial issues and transitions of care. We discuss assessments and interventions that are designed to improve mental health and independence, functionality, and quality of life in critical domains of living, including health care, education, employment, interpersonal relationships, and intimacy.

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.

Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. The new care considerations aim to address the needs of patients with prolonged survival, to provide guidance on advances in assessments and interventions, and to consider the implications of emerging genetic and molecular therapies for DMD. The committee identified 11 topics to be included in the update, eight of which were addressed in the original care considerations. The three new topics are primary care and emergency management, endocrine management, and transitions of care across the lifespan. In part 1 of this three-part update, we present care considerations for diagnosis of DMD and neuromuscular, rehabilitation, endocrine (growth, puberty, and adrenal insufficiency), and gastrointestinal (including nutrition and dysphagia) management.

Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management.

A coordinated, multidisciplinary approach to care is essential for optimum management of the primary manifestations and secondary complications of Duchenne muscular dystrophy (DMD). Contemporary care has been shaped by the availability of more sensitive diagnostic techniques and the earlier use of therapeutic interventions, which have the potential to improve patients' duration and quality of life. In part 2 of this update of the DMD care considerations, we present the latest recommendations for respiratory, cardiac, bone health and osteoporosis, and orthopaedic and surgical management for boys and men with DMD. Additionally, we provide guidance on cardiac management for female carriers of a disease-causing mutation. The new care considerations acknowledge the effects of long-term glucocorticoid use on the natural history of DMD, and the need for care guidance across the lifespan as patients live longer. The management of DMD looks set to change substantially as new genetic and molecular therapies become available.

Transforaminal intrathecal delivery of nusinersen using cone-beam computed tomography for children with spinal muscular atrophy and extensive surgical instrumentation: early results of technical success and safety.

BACKGROUND: Nusinersen, the only treatment approved by the United States Food and Drug Administration for spinal muscular atrophy (SMA), is delivered intrathecally. Many children with SMA have extensive spinal instrumentation and deformities, often precluding the use of standard approaches for gaining intrathecal access. Furthermore the anatomical distortion that often occurs with rotoscoliosis can complicate the use of fluoroscopic guidance. Compared to fluoroscopy, CT affords superior guidance for complex needle placements. This opens up alternatives to the posterior (interlaminar) technique, including transforaminal and caudal approaches. OBJECTIVE: This study describes the early results of technical success, complications and radiation dose of intrathecal delivery of nusinersen using cone-beam CT guidance with two-axis fluoroscopic navigational overlay. MATERIALS AND METHODS: We conducted a retrospective review of 15 consecutive nusinersen injections performed in four children with SMA and extensive spinal hardware precluding standard posterior lumbar puncture techniques. These children were treated using transforaminal thecal access employing cone-beam CT with navigational overlay. We analyzed results including technical success, complications and total fluoroscopy time. RESULTS: All procedures were technically successful. No major complications and one minor complication were reported; the minor complication was a post-procedural neuropathic headache that was attributed to procedural positioning and was treated successfully with gabapentin. The average procedural fluoroscopy time and air kerma were 1.9 min and 55.8 mGy, respectively. CONCLUSION: Cone-beam CT guidance with two-axis navigational overlay is a safe, effective method for gaining transforaminal intrathecal access in children with spinal abnormalities and hardware precluding the use of standard techniques.

Physical and Occupational Therapy for a Teenager with Acute Flaccid Myelitis: A Case Report.

AIMS: The purpose of this case report is to describe the inpatient rehabilitation program of a 13-year-old boy with acute flaccid myelitis (AFM), specific to physical and occupational therapy examination, treatment, and outcomes. CASE DESCRIPTION: AFM is a rare, acute neurologic illness in children and young adults who present with weakness and/or paralysis of unknown etiology. The teenager was admitted to the program, dependent for all mobility and self-care. Interventions focused on range of motion, transfer training, self-care, power wheelchair mobility, and environmental adaptations. OUTCOMES: Weekly re-evaluations and the WeeFIM were used at admission and discharge to measure the teenager's progress. At discharge, the teenager had made small gains in his passive and active range of motion. He was independent in directing his care and able to drive his power wheelchair with supervision. DISCUSSION: Due to the scarcity of published data describing AFM, this report describes an individual's response to a rehabilitation program and will hopefully add to future research in order to provide patients and families with expectations for their recovery and ultimate level of function.

Patient-centered benefit-risk assessment in duchenne muscular dystrophy.

INTRODUCTION: This study quantified caregiver and patient preferences for a therapeutic agent with demonstrated pulmonary benefits for Duchenne muscular dystrophy (DMD). Caregiver and patient differences were also explored. METHODS: A best-worst scaling survey (BWS) was administered to caregivers and patients. Across 9 profiles, respondents selected the best and worst attributes. Utility scores were estimated using mixed logistic regression. RESULTS: Respondents indicated greatest preference for therapies that maintain their current level of cough strength for 10 years or for 2 years. Preference scores for risks were low: 50% chance of diarrhea and 4 additional blood draws per year. CONCLUSION: There is a strong preference for pulmonary benefit and willingness to trade off risks and burden to achieve these benefits. In exchange for maintaining cough strength for 10 years, respondents were willing to tolerate high probabilities of diarrhea and additional blood draws. Muscle Nerve 55: 626-634, 2017.

Disparities in Functional Outcomes during Inpatient Rehabilitation between American Indian/Alaska Native and White Children.

American Indian/Alaska Native (AI/AN) children have a high risk for poor health outcomes. Race/ethnicity and functional impairments are linked with health care disparities. While data exist for other race/ethnicity groups, little is known about outcomes for AI/AN children with functional impairments. In this study the Functional Independence Measure for Children (WeeFIM®) was used to determine differences in outcomes between AI/AN and White children receiving inpatient rehabilitation for functional impairments at one pediatric rehabilitation facility. American Indian/Alaska Native and White children had similar impairment types and functional levels at admission to inpatient rehabilitation. Both groups experienced functional improvement during rehabilitation. At discharge, AI/AN children had lower total functional scores and had less improvement in mobility scores compared with White children, with more impairment in physical mobility at discharge. This is one of the first studies to show a disparity in functional outcomes for AI/AN children compared with White children during inpatient rehabilitation.

Functional outcomes during inpatient rehabilitation for American Indian and Alaska Native children with traumatic brain injury.

PURPOSE: American Indian/Alaska Native (AI/AN) people have the highest traumatic brain injury (TBI)-related mortality in the United States, but little is known about AI/AN children who survive traumatic brain injury (TBI). This study compares function and factors associated with discharge function between AI/AN and White children with TBI during inpatient rehabilitation. METHODS: Retrospective national cohort study of 114 AI/AN and 7,267 White children aged 6 months-18 years who received inpatient TBI rehabilitation between 2002-2012 at facilities utilizing the Uniform Data System for Medical Rehabilitation\scriptsize®. The outcome measure was developmental functional quotients (DFQ is the FIM\scriptsize® or WeeFIM\scriptsize® score divided by age norms x 100) at discharge. RESULTS: AI/AN race was not associated with motor (regression coefficient (ß) 0.18, 95% confidence interval (CI) -2.39, 2.76) or cognitive (ß -1.54, 95% CI -3.75, 0.67) function. Among a subgroup with loss of consciousness > 24 hours (AI/AN n= 13, White n= 643), AI/AN race was associated with lower motor DFQ (ß -12.83, 95% CI -25.39, -0.34). CONCLUSIONS: Overall, AI/AN race was not associated with inpatient rehabilitation function for children with TBI, but providers should not assume AI/ANs with more severe injuries have equitable outcomes.

An algorithmic approach to the management of unrecognized hydrocephalus in pediatric candidates for intrathecal baclofen pump implantation.

BACKGROUND: Complications of intrathecal baclofen (ITB) pump implantation for treatment of pediatric patients with spasticity and dystonia associated with cerebral palsy remain unacceptably high. To address the concern that some patients may have underlying arrested hydrocephalus, which is difficult to detect clinically because of a low baseline level of neurological function, and may contribute to the high rates of postoperative cerebrospinal fluid leak, wound breakdown, and infection associated with ITB pump implantation, the authors implemented a standardized protocol including mandatory cranial imaging and assessment of intracranial pressure (ICP) by lumbar puncture prior to ITB pump implantation. METHODS: A retrospective case series of patients considered for ITB pump implantation between September 2012 and October 2014 at Seattle Children's Hospital is presented. All patients underwent lumbar puncture under general anesthesia prior to ITB pump implantation and, if the opening pressure was greater than 21 cmH2O, ITB pump implantation was aborted and alternative management options were presented to the patient's family. RESULTS: Eighteen patients were treated during the study time period. Eight patients (44.4%) who had ICPs in excess of 21 cmH2O on initial LP were identified. Eleven patients (61.1%) ultimately underwent ITB pump implantation (9/10 in the "normal ICP" group and 2/8 in the "elevated ICP" group following ventriculoperitoneal shunt placement), without any postoperative complications. CONCLUSIONS: Given the potentially high rate of elevated ICP and arrested hydrocephalus, the authors advocate pre-implantation assessment of ICP under controlled conditions and a thoughtful consideration of the neurosurgical management options for patients with elevated ICP.

Risk Factors for First Fractures Among Males With Duchenne or Becker Muscular Dystrophy.

BACKGROUND: Fractures are a significant concern for individuals with Duchenne/Becker muscular dystrophy with 21% to 44% of males experiencing a fracture. Factors that increase or decrease the risk for fracture have been suggested in past research, although statistical risk has not been determined. METHODS: In this retrospective cohort study, we used the Muscular Dystrophy Surveillance, Tracking and Research Network cohort, a large, population-based sample to identify risk factors associated with first fractures in patients with Duchenne or Becker muscular dystrophy. Our study cohort included males with Duchenne or Becker muscular dystrophy born between 1982 and 2006 who resided in Arizona, Colorado, Georgia, Iowa, and Western New York, retrospectively identified and followed through 2010. We utilized a multivariate Cox proportional hazard model to determine hazard ratios for relevant factors associated with first fracture risk including race/ethnicity, surveillance site, ambulation status, calcium/vitamin D use and duration, bisphosphonate use and duration, and corticosteroid use and duration. RESULTS: Of 747 cases, 249 had at least 1 fracture (33.3%). Full-time wheelchair use increased the risk of first fracture by 75% for every 3 months of use (hazard ratio=1.75, 95% confidence interval, 1.14, 2.68), but corticosteroid use, bisphosphonate use, and calcium/vitamin D use did not significantly affect risk in the final adjusted model. CONCLUSIONS: In this cohort, first fractures were common and full-time wheelchair use, but not corticosteroid use, was identified as a risk factor. The impact of prevention measures should be more thoroughly assessed. CLINICAL RELEVANCE: Fractures are a significant concern for individuals with dystrophinopathies, but the contribution of various risk factors has not been consistently demonstrated.

Bone health in children with neuromuscular disorders.

This paper provides a broad review of bone health issues in children with neuromuscular diseases (NMD). As Duchenne muscular dystrophy is the most common neuromuscular disease of childhood, there is a strong emphasis on this. This paper reviews the incidence of fractures, the degree of the reduced bone mineral density, the risk factors associated with this common problem, and the non-pharmacological and pharmacological treatment options. Recommendations for monitoring and treatment are provided.

Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies.

INTRODUCTION: The correlation of markers of disease severity among brothers with Duchenne or Becker muscular dystrophy has implications for clinical guidance and clinical trials. METHODS: Sibling pairs with Duchenne or Becker muscular dystrophy (n = 60) were compared for ages when they reached clinical milestones of disease progression, including ceased ambulation, scoliosis of ≥ 20°, and development of cardiomyopathy. RESULTS: The median age at which younger brothers reached each milestone, compared with their older brothers ranged from 25 months younger for development of cardiomyopathy to 2 months older for ceased ambulation. For each additional month of ambulation by the older brother, the hazard of ceased ambulation by the younger brother decreased by 4%. CONCLUSIONS: The ages when siblings reach clinical milestones of disease vary widely between siblings. However, the time to ceased ambulation for older brothers predicts the time to ceased ambulation for their younger brothers.