Search

The role of genetic testing in neurologic clinical practice has increased dramatically in recent years, driven by research on genetic causes of neurologic disease and increased availability of genetic sequencing technology. Genetic testing is now indicated for adults with a wide range of common neurologic conditions. The potential clinical impacts of a genetic diagnosis are also rapidly expanding, with a growing list of gene-specific treatments and clinical trials, in addition to important implications for prognosis, surveillance, family planning, and diagnostic closure. The goals of this review are to provide practical guidance for clinicians about the role of genetics in their practice and to provide the neuroscience research community with a broad survey of current progress in this field. We aim to answer three questions for the neurologist in practice: Which of my patients need genetic testing? What testing should I order? And how will genetic testing help my patient? We focus on common neurologic disorders and presentations to the neurology clinic. For each condition, we review the most current guidelines and evidence regarding indications for genetic testing, expected diagnostic yield, and recommended testing approach. We also focus on clinical impacts of genetic diagnoses, highlighting a number of gene-specific therapies recently approved for clinical use, and a rapidly expanding landscape of gene-specific clinical trials, many using novel nucleotide-based therapeutic modalities like antisense oligonucleotides and gene transfer. We anticipate that more widespread use of genetic testing will help advance therapeutic development and improve the care, and outcomes, of patients with neurologic conditions. [ABSTRACT FROM AUTHOR]

Backround There is a shortage of medical specialists in Chile, including neurologists; currently, there are 56,614 patients waiting for a first adult Neurology appointment in the country. The Teleneurology Program at the Hospital Las Higueras de Talcahuano (HHT) was implemented in 2015 to help reduce both the number of patients waiting for a first consultation and their waiting times.Methods: This retrospective study analyzed a cohort of 8269 patients referred to the HHT Neurology clinic between 2013 and 2018, from primary, secondary, and tertiary health centers. Cox regression analyses were performed to determine the factors influencing each outcome (number of patients waiting for a consultation and waiting time), such as age, gender, referral health establishment and the type of consultation (whether in situ at the HHT or by synchronic telepresence through the Teleneurology Program).Results: Out of the 8269 patients included in the study, 1743 consulted the neurologist through the Teleneurology Program, while 6526 received a consultation in situ at the HHT. Since its implementation (2015) until the end of 2018, the Teleneurology program contributed to decrease the number of patients waiting for their first appointment from 3084 to 298. Waiting time for the first consultation was 60% shorter for patients enrolled in the Teleneurology program than those with consultation in situ at HHT (6.23 ± 6.82 and 10.47 ± 8.70 months, respectively). Similar differences were observed when sorting patient data according to the referral health center. Cox regression analysis showed that patients waiting for a traditional in situ first adult Neurology consultation at the HHT had a higher risk (OR = 6.74) of waiting 90% longer than patients enrolled in the Teleneurology Program, without significant differences due to gender or age.Conclusions: Data from this study show a significant contribution of the Teleneurology Program at the HHT to decrease the number of patients waiting for a first consultation with a neurologist, as well as shorter waiting times, when derived from primary and secondary health centers. [ABSTRACT FROM AUTHOR]

Objective: Telemedicine arises as an attractive intervention for reducing the waiting time for appointments with medical specialists in Chile. Successful implementation of this technology requires safeguarding the patient/clinician trust relationship; however, no studies have been conducted to evaluate quality perception of a telemedicine program in Chile. To assess patient satisfaction with the Teleneurology program at the Hospital Higueras Talcahuano (HHT), addressing patient/clinician trust relationship. Results: A perception survey was constructed with 23 questions, distributed into 5 key areas (items) of user satisfaction. Its face validity was performed by five neurology specialists from the Teleneurology unit of HHT. The survey was applied to 167 patients of the HHT, recruited between 2018 and 2019, for conducting a pilot cross-sectional descriptive study to assess internal consistency (Cronbach alpha) and reliability (factorial analysis of main components). The survey showed an internal consistency of 0.88. Removing any of the items maintained its reliability in values over 0.8. All items showed point biserial correlations greater than 0.30. Overall, the survey constructed and evaluated in this study showed high internal consistency and reliability values, which will allow its application in further studies of quality assessment of the Teleneurology unit of HHT. [ABSTRACT FROM AUTHOR]

Background: As a result of major clinical and scientific advances and changes in clinical practice, the role of adult neurology training for Child Neurology and Neurodevelopmental Disability (NDD) certification has become controversial. The most recently approved requirements for board eligibility for child neurology and neurodevelopmental disability residents still include 12 months in adult neurology rotations. The objective of this study was to assess United States child neurology and neurodevelopmental disability residency program directors' opinions regarding optimal residency training.Methods: The authors developed an 18-item questionnaire and contacted all 80 child neurology and neurodevelopmental disability program directors via e-mail, using SurveyMonkey.Results: A total of 44 program directors responded (55%), representing programs that train 78 categorical and 94 total resident positions, approximately 70% of those filled in the match. Respondents identified multiple areas where child neurology residents need more training, including genetics and neuromuscular disease. A substantial majority (73%) believed child neurology and neurodevelopmental disability residents need less than 12 adult neurology training months; however, most (75%) also believed adult hospital service and man-power needs (55%) and finances (34%) would pose barriers to reducing adult neurology. Most (70%) believed reductions in adult neurology training should be program flexible. A majority believed the written initial certification examination should be modified with more child neurology and fewer basic neuroscience questions. Nearly all (91%) felt the views of child neurology and neurodevelopmental disability program directors are under-represented within the Accreditation Council for Graduate Medical Education Residency Review Committee.Conclusions: The requirement for 12 adult neurology months for Child Neurology and Neurodevelopmental Disability certification is not consistent with the views of the majority of program directors, who favor more training in subspecialized fields of child neurology. [ABSTRACT FROM AUTHOR]

Background Healthcare development in the UK has resulted in an increase in neurologists working in district general hospitals. Methods The aim of the study was to determine the use of a neurologist for inpatient diagnosis and management, and to measure a neurologist's diagnostic reliability in a district general hospital over a 27-month period. Patient data were prospectively recorded. Follow-up was performed independently by two clinicians reviewing the medical notes. Reasons for diagnostic change were determined. Results 306 inpatients were referred to the neurologist between 1 January 2007 and 31 March 2009 (2% of medical admissions). Mean (SD) age was 49.3 (18.8) years, and the female/male ratio was 1.2:1. Epilepsy and stroke were the most common diagnoses. Diagnostic concordance between referring physician and neurologist ranged from κ score 0.13 (spinal pathology) to 0.83 (central nervous system infection). Neurological opinion resulted in diagnostic change in 38.2% and management change in 88.8%. Only 1.6% of patients remained without a diagnosis, a fourfold improvement from physician referral. After medical records had been reviewed, 3.3% of inpatient diagnoses (10 of 306 patients) changed from the original diagnosis by the neurologist. Specialist investigation helped in revising diagnoses in four of the 10 diagnostic changes. Conclusion This study shows that in a district general hospital a neurologist can contribute to inpatient diagnosis and management with minimal diagnostic change over time, suggesting reliability of this service. [ABSTRACT FROM PUBLISHER]