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Background: Anecdotal reports suggest shortages among neurologists who provide multiple sclerosis (MS) patient care. However, little information is available regarding the current and future supply of and demand for this neurologist workforce., Methods: We used information from neurologist and neurology resident surveys, professional organizations, and previously reported studies to develop a model assessing the projected supply and demand (ie, expected physician visits) of neurologists providing MS patient care. Model projections extended through 2035., Results: The capacity for MS patient visits among the overall neurologist workforce is projected to increase by approximately 1% by 2025 and by 12% by 2035. However, the number of individuals with MS may increase at a greater rate, potentially resulting in decreased access to timely and high-quality care for this patient population. Shortages in the MS neurologist workforce may be particularly acute in small cities and rural areas. Based on model sensitivity analyses, potential strategies to substantially increase the capacity for MS physicians include increasing the number of patients with MS seen per neurologist, offering incentives to decrease neurologist retirement rates, and increasing the number of MS fellowship program positions., Conclusions: The neurologist workforce may be adequate for providing MS care currently, but shortages are projected over the next 2 decades. To help ensure access to needed care and support optimal outcomes among individuals with MS, policies and strategies to enhance the MS neurologist workforce must be explored now., Competing Interests: Dr. Giesser participated in an industry-sponsored clinical trial and received educational grant funding for a fellowship from Biogen. Dr. Johnson was a paid consultant for Teva and Questcor. The other authors have no conflicts of interest to disclose.

Dok-7 myasthenia is an autosomal recessive congenital myasthenic syndrome due to DOK7 mutations. Anticholinesterase therapy is ineffective and may worsen the weakness in patients with Dok-7 myasthenia or few other forms of congenital myasthenic syndromes. We describe a 31-year-old man previously diagnosed with seronegative myasthenia gravis. Repetitive stimulation of the right spinal accessory nerve showed 51% decrement. Needle electromyography revealed myopathic changes in clinically affected muscles. Muscle biopsy was normal. The patient was referred to us for worsening weakness after taking pyridostigmine. We searched for DOK7 mutations and identified compound heterozygous mutations of a common c.1124_1127dupTGCC mutation and a novel splice site mutation, c.772+2_+4delinsCCGGGCAGGCGGGCA. Discontinuation of pyridostigmine improved weakness. He further regained strength with oral albuterol therapy and decrement was reduced to 25%. Worsening of symptoms with anticholinesterase therapy in patients with "seronegative myasthenia gravis" should prompt clinicians to consider a possibility of congenital myasthenic syndromes to avoid unnecessary use of immunosuppressive therapy. Patients with Dok-7 myasthenia respond well to oral albuterol treatment.

Over the last 50 years, there have been many improvements in therapy for individuals with neurologic disorders. Simultaneously, the complexity and cost of care have increased. The delivery of neurologic services is inefficient. The needs of both patients and neurologists are not being optimally addressed. Although greater attention is on the quality, safety, and value of the care, there remains a need for fundamental redesign in the way neurologic services are provided. The future practice of neurology will likely be interdisciplinary and provide both easy access and efficient coordination of services. No matter what changes in financing of health care are adopted, focus needs to be on reducing health care costs. Patients seeking neurologic care will expect seamless, innovative, and cost-effective services and to be active participants in their care. The proposed modifications address current demands and advocate for prospective innovative solutions. The changes proposed to improve care for patients will simultaneously make the careers of neurologists more gratifying and less stressful., (© 2015 American Academy of Neurology.)

Many neuromuscular conditions cause bulbar and limb weakness, and when several conditions coexist they present additional diagnostic challenges. Here we describe a case of a 45-year-old woman with antibody positive myasthenia gravis since age 16, who then develops treatment-resistant weakness due to genetically proven oculopharyngeal muscular dystrophy. We conclude that the development of treatment-resistant weakness in myasthenia gravis should spur further work up for other neuromuscular disorders including oculopharyngeal muscular dystrophy., (Copyright © 2013 Elsevier B.V. All rights reserved.)

A neurologist reflects on the realities of his workday after a patient asks why doctors complain about payers' bureaucratic oversight.

Academic neurology is undergoing transformational changes. The public investment in biomedical research and clinical care is enormous and there is a growing perception that the return on this huge investment is insufficient. Hospitals, departments, and individual neurologists should expect more scrutiny as information about their quality of care and financial relationships with industry are increasingly reported to the public. There are unprecedented changes occurring in the financing and delivery of health care and research that will have profound impact on the mission and operation of academic departments of neurology. With the passage of the Patient Protection and Affordable Care Act (PPACA) there will be increasing emphasis on research that demonstrates value and includes the patient's perspective. Here we review neurological investigations of our clinical and research enterprises that focus on quality of care and comparative effectiveness, including cost-effectiveness. By highlighting progress made and the challenges that lie ahead, we hope to create a clinical, educational, and research roadmap for academic departments of neurology to thrive in today's increasingly regulated environment., (Copyright © 2011 American Neurological Association.)

Up to 50% of persons with amyotrophic lateral sclerosis (ALS) develop cognitive impairments, particularly of executive function (EF). The Frontal Assessment Battery (FAB) provides a method for rapid assessment of EF. We investigated the FAB as an assessment of cognitive impairment among 16 subjects with ALS, and evaluated their performance on the FAB and the Mini-Mental State Examination (MMSE). Raw FAB and MMSE scores were Z-transformed using published age- and education-based norms. FAB Z-scores were significantly lower than MMSE Z-scores (p<0.03). Eight subjects (50%) were impaired (Z < or = -2) on the FAB while no subjects were impaired on the MMSE. MMSE and FAB scores did not vary as function of disease duration, laterality of onset, or Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) scores. Further study of the suitability of the FAB as a domain-specific screening measure of executive dysfunction for ALS is warranted.

Progressive external ophthalmoplegia (PEO) can be caused by a disorder characterized by multiple mitochondrial DNA (mtDNA) deletions due to mutations in the TWINKLE gene, encoding a mtDNA helicase. We describe a 71-year-old woman who had developed PEO at age 55 years. She had cataracts, diabetes, paresthesias, cognitive defects, memory problems, hearing loss, and sensory ataxia. She had muscle weakness with ragged red fibers on biopsy. MRI showed static white matter changes. A c.908G>A substitution (p.R303Q) in the TWINKLE gene was identified. Multiple mtDNA deletions were detected in muscle but not blood by a PCR-based method, but not by Southern blot analysis. MtDNA copy number was maintained in blood and muscle. A systematic literature search was used to identify the genotypic and phenotypic spectrum of dominant TWINKLE-related disease. Patients were adults with PEO and symptoms including myopathy, neuropathy, dysarthria or dysphagia, sensory ataxia, and parkinsonism. Diabetes, cataract, memory loss, hearing loss, and cardiac problems were infrequent. All reported mutations clustered between amino acids 303 and 508 with no mutations at the N-terminal half of the gene. The TWINKLE gene should be analyzed in adults with PEO even in the absence of mtDNA deletions in muscle on Southern blot analysis, and of a family history for PEO. The pathogenic mutations identified 5' beyond the linker region suggest a functional role for this part of the protein despite the absence of a primase function in humans. In our patient, the pathogenesis involved multiple mtDNA deletions without reduction in mtDNA copy number.

Objective: To examine the care of patients with ALS following the publication of the standardized recommendations for the management of patients with amyotrophic lateral sclerosis (ALS) published in 1999 by the American Academy of Neurology., Methods: Specific aspects of ALS patient management have been evaluated serially using a national Amyotrophic Lateral Sclerosis Clinical Assessment, Research, and Education (ALS CARE) database to encourage compliance with these recommendations and to assure continuing quality improvement., Results: The most recent analysis of 5,600 patients shows interesting epidemiological observations and treatment trends. Proper management of many ALS symptoms has increased substantially since the first publication of the guidelines, and awareness of pseudobulbar affect has increased. Other recommendations are underutilized: Only 9% undergo percutaneous endoscopic gastrostomy, although this procedure was recommended in 22% of patients; and noninvasive positive pressure ventilation was used by only 21% of patients despite being associated with improved 5-year survival rates., Interpretation: This observational database has been a useful tool in monitoring compliance with the standard of care for patients with ALS and may have resulted in greater adherence to guidelines.

Background: Late-onset GM2 gangliosidosis (LGG) is a rare disease that is often considered in the differential diagnosis of adolescents and young adults who present with multiple realms of neurologic dysfunction. Cognitive disturbances are common but have not been systematically studied., Objective: To determine the natural history of cognitive dysfunction in patients with LGG., Design: Case series and literature review., Setting: Urban tertiary referral clinic., Patients: Individuals with hexosaminidase A deficiency as the origin of LGG., Main Outcome Measures: Cognitive dysfunction, psychiatric symptoms, and cerebellar, upper motor neuron, lower motor neuron, or extrapyramidal symptoms and signs., Results: Historical and examination data from 62 patients were found. Forty-four percent of LGG patients had some degree of cognitive dysfunction. Cognitive dysfunction was associated with a greater number of other elemental neurologic deficits. In 21 patients with acceptable longitudinal information, 8 (38%) had a static cognitive disorder, whereas progressive dementia was evident in 13 patients (62%), including 2 of our cases with serial neuropsychological testing. Neuroimaging often showed nonspecific cerebellar and/or cerebral atrophy., Conclusions: Cognitive dysfunction is a frequent manifestation of LGG. Patients who experience cognitive dysfunction are more likely to have a greater number of other neurologic manifestations of the disease. Cognitive dysfunction may take the form of static encephalopathy, but progressive dementia is more often encountered. The pathogenesis of cognitive dysfunction in this disease is unknown, highlighting the need for further study.

We report on a patient with mild episodic nonketotic hyperglycinemia (NKH) on valproate who developed episodes of encephalopathy and chorea provoked by a fever and protein loading. After treatment with sodium benzoate and dextromethorphan, the patient's encephalopathy resolved and her chorea improved. The importance of this case is in recognizing this rare syndrome, which may present in the adult population., (Copyright 2003 Movement Disorder Society)

Objective: S: To assess levels of professional satisfaction and distress in a national sample of neurologists and to compare neurologists with other physicians., Methods: The authors used data from the 1996 through 1997 and 1998 through 1999 Community Tracking Study Physician Survey and analyzed responses in the two time frames to measures of career satisfaction, physician autonomy and communication, and ability to obtain needed services for patients., Results: Most physicians, including neurologists, are satisfied with careers in medicine. Neurologists feel they have more time to spend with patients than do other physicians but are more concerned than are other physicians about their ability to obtain needed services and to provide high-quality care for patients. One-third of all physicians feel that they cannot maintain the kind of continuing relationships with patients over time that are necessary for delivering high-quality care., Conclusion: The majority of physicians, including neurologists, are satisfied with medical practice today. Because some neurologists are experiencing significant professional distress, those factors that will enhance physician satisfaction, prevent burnout, and encourage high-quality interpersonal care need to be carefully examined and modified.

Motor fatigue is a common complaint in patients with amyotrophic lateral sclerosis (ALS), but is often excluded, unlike weakness, from the clinical assessment of these patients. This could be due to the complexity and often painful assessment techniques of this motor deficit. This study examines the feasibility of quantitative assessment of motor fatigue by modifying presently available force measurements. The relationship between weakness and fatigue in ALS patients was also examined. Fifty-four ALS patients and 39 normal control subjects performed 30 s of sustained maximal voluntary isometric contraction (MVIC) of elbow flexors (EF), knee extensors (NE), and ankle dorsiflexors (DF), using a computerized force measurement system and standardized testing procedures. Fatigue index (FI) was digitally calculated, from the force-time curve, as the percentage of MVIC unable to be sustained over the 30-s period. Fatigue was greater in ALS patients than in normal control (mean=23% vs. 15%) in all muscles including muscles that were not clearly weak. Weakness and fatigue were poorly correlated in ALS patients and may be independent measures of the pathogeneses of ALS.

The pace of scientific discoveries, the increasing complexity of managing patients, and the runaway cost of neurological services have created an urgent need for a wide range of clinical research in neurology. Despite increasing recognition of this need and recent increases in funding for training clinical investigators, neurologists conducting cellular and molecular investigations are more likely to join faculties, maintain research careers, and attain academic advancement. Because academic departments of neurology are successful in producing and nurturing basic science researchers, why aren't they just as triumphant in spawning clinical investigators? This crisis in the preparation of clinical investigators has been brought about by many factors: competing time demands for clinical service, lack of methodologically rigorous training in the disciplines necessary to conduct clinical research, and lack of mentorship. Neurology residents contemplating a clinical research career may observe junior faculty who lack career guidance, are ill-prepared as independent investigators, and must juggle patient demands while trying to write a research grant or conduct a study. Already burdened by medical school debts, is it any wonder that our neurology graduates don't leap to a career with a future that seems so insecure? Academic departments of neurology must develop full-scale clinical research training programs if they are to meet the pressing need for clinical research. As a starting point, they must free themselves from their dependence on providing clinical services to generate income. Following the model which has produced successful basic researchers, much greater effort must be given to establishing rigorous methodological training in collaboration with other departments, creating senior role models, and protecting time for clinical investigators to conduct research. Unless we create incentives to careers in clinical research, we will never answer the growing number of clinical research questions we face today.

Objective: To assess neurologists' attitudes on rationing health care and to determine whether neurologists would set healthcare priorities in ways that are consistent with cost-effectiveness research., Background: Cost-effectiveness research can suggest ways to maximize health benefits within fixed budgets but is currently being underused in resource allocation decisions., Methods: The authors surveyed a random sample of neurologists practicing in the United States (response rate, 44.4%) with three hypothetical scenarios. Two scenarios were designed to address general attitudes on allocating finite resources with emphasis on formulary decisions for costly drugs. The third scenario was designed to assess whether neurologists would optimize the allocation of a fixed budget as recommended by cost-effectiveness analysis., Results: Three-quarters of respondents thought that neurologists make daily decisions that effectively ration healthcare resources, and 60% felt a professional responsibility to consider the financial impact of individualized treatment decisions on other patients. Only 25% of respondents thought that there should be no restrictions placed on any of the five newer antiepileptic agents. In a 1995 survey, 75% of similarly sampled neurologists agreed that no restrictions should be placed on the availability of FDA-approved medications. Nearly half (46%) of respondents favored a less effective test and would be willing to let patients die to ensure the offering of a more equitable alternative., Conclusions: Most neurologists recognize the need to ration health care, and although they think cost-effectiveness research is one method to achieve efficient distribution of resources, many think that considerable attention should also be given to equity.

Objective: To address training demands on future neurologists, the American Academy of Neurology (AAN) surveyed its US members as to their views about training the future neurology workforce., Methods: The survey was mailed to 575 US neurologists and 425 residents/fellows. Respondents (54%) were asked about their perceptions of current and future educational programs and settings needed to improve practice competence; issues related to subspecialization; and the role of non-neurologists in providing neurologic care. Views of neurologists were compared with those of neurology residents/fellows., Results: Most respondents support additional training in outpatient, community, and staff model health maintenance organization settings. The majority of respondents oppose a required fifth year of training or a yearly competency examination, but neurologists who have a subspecialty interest and residents/fellows favor elective certification and higher fees by subspecialists. General neurologists oppose these ideas. Most neurologists feel that primary care physicians, nurse practitioners, and physician assistants can manage uncomplicated neurologic problems, although residents/fellows are less willing to accept the role of nonphysician providers for neurologic services., Conclusions: Neurology educational programs should consider addressing deficiencies that today's practitioners perceive. Increasing subspecialization, although favored by most neurologists, creates a challenge for the neurologic community as neurologists without subspecialty training see this trend as a threat to their livelihood.

Objective: The ALS Patient Care Database was created to improve the quality of care for patients with ALS by 1) providing neurologists with data to evaluate and improve their practices, 2) publishing data on temporal trends in the care of patients with ALS, and 3) developing hypotheses to be tested during formal clinical trials., Background: Substantial variations exist in managing ALS, but there has been no North American database to measure outcomes in ALS until now., Methods: This observational database is open to all neurologists practicing in North America, who are encouraged to enroll both incident and prevalent ALS patients. Longitudinal data are collected at intervals of 3 to 6 months by using standard data collection instruments. Forms are submitted to a central data coordinating center, which mails quarterly reports to participating neurologists., Results: Beginning in September 1996 through November 30, 1998, 1,857 patients were enrolled at 83 clinical sites. On enrollment, patients had a mean age of 58.6 years +/-12.9 (SD) years (range, 20.1 to 95.1 years), 92% were white, and 61% were men. The mean interval between onset of symptoms and diagnosis was 1.2+/-1.6 years (range, 0 to 31.9 years). Riluzole was the most frequently used disease-specific therapy (48%). Physical therapy was the most common nonpharmacologic intervention (45%). The primary caregiver was generally the spouse (77%). Advance directives were in place at the time of death for 70% of 213 enrolled patients who were reported to have died., Conclusions: The ALS Patient Care Database appears to provide valuable data on physician practices and patient-focused outcomes in ALS.

Electromyography (EMG) was evaluated as a supplement to clinical examination and biomechanical considerations to optimize forearm donor muscle selection before tendon transfers to 4 functionless hands in 3 patients with slowly progressive polyneuropathies. Two patients had unusually severe Charcot-Marie-Tooth disease; the third patient had idiopathic mononeuropathy multiplex. Standard EMG parameters were used to devise an intuitive muscle grading system, including most importantly interference patterns and motor control, plus motor unit morphology and stability. Given our objective of restoring survivable function despite ongoing polyneuropathy, we found that EMG reveals prognostically important differences among partially denervated candidate muscles that cannot be detected by experienced clinical examiners. Opposition transfer was performed on one hand of each patient. After 39-, 39-, and 51-month follow-up durations, restored opposition was graded as good in these 3 hands. We conclude that EMG provides meaningful guidance in selecting optimal forearm muscles for tendon transfers to hands in the setting of slowly progressive polyneuropathies.

Neurologists are being asked to incorporate methods into daily practice that measure quality of care. Standards of care are increasingly being defined using evidence-based assessments of neurological literature. To evaluate quality of care, a widely accepted and useful model considers the structure, process, and outcomes of care. Outcomes, the impact of care on patients' health, should include measures of mortality, morbidity, disability, patient functioning and well-being (health-related quality of life), and patient satisfaction with care. A variety of private organizations and government programs exist to encourage documentation and promotion of high quality of care. This explosion in quality information is not yet standardized, so that much confusion exists about appropriate data elements to be measured. The challenge is to collect, summarize, and disseminate practical data useful to neurologists and the purchasers and consumers of our services.