Neurology. Clinical practice最新文献

Background and objectives: The Friedreich ataxia (FRDA) scientific community needs access to patient-centered outcome measures that satisfy regulatory guidelines and are capable of tracking clinically meaningful changes in FRDA disease burden. The objective of this research was to develop a novel, disease-specific caregiver-reported outcome measure for use in FRDA research and clinical care.

Methods: In prior work, we conducted qualitative interviews and a cross-sectional study of FRDA caregivers and patients to determine the symptoms of greatest importance to individuals with FRDA. We designed the Friedreich Ataxia Caregiver-Reported Health Index (FACR-HI) to serially measure the symptoms of greatest importance to patients and utilized factor analysis, beta testing, reliability testing, and cross-sectional subgroup analysis to further evaluate and optimize this disease-specific outcome measure.

Results: The FACR-HI was designed to measure total disease burden and disease burden in 18 symptomatic domains. The FACR-HI total score demonstrated high internal consistency (Cronbach's α = 0.98) and test-retest reliability (intraclass correlation coefficient = 0.96). Beta interview participants found the FACR-HI to be highly relevant, comprehensive, and easy to use. FACR-HI total and subscale scores were associated with functional staging for ataxia scores and speech impairment.

Discussion: Initial evaluation of the FACR-HI supports its content validity, test-retest reliability, and construct validity as a caregiver-reported outcome measure for assessing how pediatric individuals with FRDA feel and function. The FACR-HI provides a potential mechanism to quantify changes in multifactorial FRDA disease burden during future clinical trials.

Incidence of Alzheimer disease (AD) is going to rise in the next years and to become a health and social emergency. The prevention and the therapeutic management of AD still present unmet needs worldwide. The recent approval of monoclonal antibodies against amyloid β (anti-Aβ mAbs) for AD has increased the level of uncertainty regarding on how such drugs should be administered, to whom, and for how long. Concerns about cost-effectiveness ratios of anti-Aβ mAbs and the need for actual strategies of risk prevention have further dug barriers of inequalities between the national health care systems. Planning research to address questions on the real feasibility of the correct therapeutic management, improving international cooperation on surveillance of risk factors, implementing pathways for timely diagnosis, and effective medical and social support for patients with AD worldwide would be extremely valuable to fight against this upcoming pandemic.

Background: Immune-mediated peripheral nervous system (PNS) disorders pose diagnostic and therapeutic challenges, necessitating collaborative, patient-centered care. Limited access to specialized centers leads to delayed diagnosis and care, as seen during the COVID-19 pandemic. To address these challenges, accessible specialized care is crucial. On-site support plays a vital role in advising and assisting patients and caregivers, enabling multidisciplinary care for PNS diseases.

Recent findings: The PNS Nurse Education Program tackles these complexities, using specialized nurses experienced in multiple sclerosis and Parkinson disease. Focusing on peripheral neuroimmunologic disorders, PNS nurses monitor disease severity, optimize communication, and provide therapeutic support in the recently started era of available immunotherapies. Collaboration with other healthcare sectors and support groups further enhances patient care.

Implications for practice: Ultimately, the PNS Nurse Education Program aims to bridge the gap between complex treatments and limited specialized care, improving patient outcomes and relieving burdens on patients, caregivers, and healthcare systems.

Purpose of review: Physician burnout, which is prevalent in neurology, has accelerated in recent years. While multifactorial, a major contributing factor to burnout is a payment model that rewards volume over quality, leaving physicians overburdened and unfulfilled. The aim of this review was to investigate ways of reducing burnout while improving quality-based outcomes in a value-based health care model.

Recent findings: Burnout affects researchers, educators, clinicians, and administrators in all fields and tracks, but neurologists experience some of the worst burnout rates among specialties. Transitioning to a value-based health care model, which rewards quality and outcomes over volume, may contribute to reversing the burnout trend. However, this requires that physicians feel valued in the workplace in ways corresponding to their preferences. We propose to stratify neurologists using the "basket of motivators" framework, which operates multiple individual-based and team-based motivators including balance among work responsibilities, work-life balance, institutional pride, self-actualization at work, work environment, and finances. By tailoring individual-based and team-based financial and nonfinancial incentives, neurologists are empowered to work at the top of their license to provide high-impact clinical care while combating the most prominent causes of burnout.

Summary: To address the neurologist burnout epidemic, a transition to value-based health care is needed that rewards quality-based performance outcomes through both individual-based and team-based approaches that apply financial and nonfinancial incentives. Understanding the underlying motivations behind neurologists' drives to work can inform tailored incentives that allow neurologists to provide value to their patients and feel valued by their organizations.

Background and objectives: Efgartigimod, which has been well tolerated and efficacious in individuals with generalized myasthenia gravis (MG), is available in Japan not only for the treatment of anti-acetylcholine receptor-positive (AChR+) but also anti-muscle-specific receptor tyrosine kinase (MuSK+) and seronegative generalized MG. We report details of the use of efgartigimod for generalized MG in clinical practice in Japan.

Methods: We included patients with generalized MG in the 2021 survey of Japan Myasthenia Gravis Registry (JAMG-R) study group who received an initial cycle of efgartigimod between May and September 2022. We defined "responders" as patients who achieved a score ≥2 points for MG activities of daily living (MG-ADL) in the first treatment cycle. The MG composite and the Revised scale of the 15-item Myasthenia Gravis-Quality of Life scale (MG-QOL15-r) were also evaluated.

Results: Of 1,343 JAMG-R patients, 36 (2.7%) started efgartigimod (female 68%, age 53 years). Their serologic profiles were as follows: AChR+, n = 19 (53%); MuSK+, n = 6 (17%); and seronegative, n = 11 (31%). Twenty-six patients (72%) had refractory MG. There were 81 cycles of efgartigimod during the 26-week observation in 34 patients (average, 2.4 cycles). The mean interval between cycles was 5.9 weeks. A continuous 4-weekly infusion of efgartigimod was performed in 65 (80%) of 81 cycles. In the first cycle, the MG-ADL score of the 34 patients decreased significantly from 10.5 ± 4.3 to 6.9 ± 5.1 (p = 0.003). Similarly, the mean MG composite and MG-QOL15-r decreased from 18.4 ± 13.6 to 11.8 ± 9.6 (p = 0.004) and from 19.2 ± 6.3 to 14.2 ± 8.3 (p = 0.007), respectively. Twenty-one (62%) patients were responders. Therapeutic responses were observed in the subsequent cycles. The duration of effectiveness of efgartigimod was varied among the responders; 4 responders had only a single effective cycle. Significant improvement was observed in the MuSK+ patients. Prednisolone dose of 7 patients was reduced. Our examination of the patients' postintervention status revealed that 6 patients achieved minimal manifestations. COVID-19 occurred in 5 patients. We failed to detect clinical or laboratory findings associated with responders.

Discussion: Efgartigimod can be considered for the treatment of patients with generalized MG who do not achieve minimal manifestations, with a broad flexibility of patient selection and treatment schedules.

Background and objectives: Dementia with Lewy bodies (DLB) is a common degenerative dementia, but research on caregiver experiences in late stages is lacking. This study aimed to investigate the caregiving experience in moderate-advanced DLB to identify opportunities for improving care and support.

Methods: Dyads of individuals with moderate-advanced DLB and their primary informal caregivers were recruited from specialty clinics, advocacy organizations, and research registries. The study collected demographics, disease-related measures, and measures of the caregiver experience relating to caregiver support, burden, grief, self-efficacy, depression, quality of life, and coping. Spearman correlation coefficients and Wilcoxon rank-sum tests evaluated the relationships of caregiver measures with patient and caregiver variables with adjustments for multiple testing.

Results: Caregivers (n = 143) were mostly women (83.5%) and spouses (84.7%) (mean age 68 years; range 37-85). Almost 40% reported high burden and/or depression. Caregiver measures correlated with fluctuation and behavioral symptom severity, sleepiness, and autonomic symptoms of the person with DLB. Higher burden correlated with worse caregiver quality of life, higher depression, and grief. Greater self-efficacy, social support, and resilience correlated with lower caregiver burden. The most frequently reported caregiver concerns were being unable to plan for the future, having to put the needs of the person with DLB ahead of the caregiver's own needs, and worry that the person with DLB would become too dependent on the caregiver, but many additional concerns were endorsed. Caregivers were generally satisfied with medical team support. The lowest reported satisfaction related to information regarding disease progression and how well medical teams shared information with each other.

Discussion: Various patient-related and caregiver-related factors influence caregiver experiences in moderate-advanced DLB. Clinicians can target caregiver needs by providing support resources and DLB education and treating bothersome patient symptoms. Future research should investigate what interventions can modify and improve caregiver experiences in advanced DLB and identify therapeutics for patient symptoms currently without adequate treatments (e.g., fluctuations, daytime sleepiness).

Trial registration information: NCT04829656.

Background and objectives: Previous research has been limited in the comprehensive study of associations between the use of individual antiseizure medications (ASMs) in pregnancy and specific groups of birth defects, and systematic reviews and meta-analyses on the topic are limited by pooled samples and study designs. This study investigated birth defects related to ASM use in pregnancy in children born to women with epilepsy in Sweden over 20 years.

Methods: We used data from Swedish national registers to follow a cohort of 17,996 children born to women diagnosed with epilepsy any time before conception in Sweden from 1996 to 2016, following them through 2017. We examined maternal-reported use of the 4 most commonly reported ASMs: lamotrigine (n = 2,148, 11.9%), carbamazepine (n = 1,940, 10.8%), valproic acid (n = 1,043, 5.80%), and levetiracetam (n = 587, 3.26%). We identified birth defects using diagnoses recorded at the time of discharge from the hospital and inpatient and outpatient diagnoses recorded in the first year of life. Models were estimated in a stepped fashion: unadjusted, adjusted for covariates, among a subcohort born to women diagnosed 10 years before conception (n = 14,586), and restricted to monotherapy.

Results: Valproic acid use in pregnancy had the strongest and most widespread associations with birth defects in children, with carbamazepine also having links to several birth defects, including respiratory system and genital organ defects. Lamotrigine use in pregnancy was associated with cleft lip/palate and chromosomal abnormalities. Levetiracetam was most often used with other ASMs and preliminarily associated with many birth defects.

Discussion: Our findings support avoidance of valproic acid use in pregnancy whenever possible. Lamotrigine and carbamazepine may be safer alternatives. However, these medications were also associated with certain birth defects, including some not reported previously. We are among the first to examine the possible effects of levetiracetam use in pregnancy, though more research is needed to investigate this further.

Background: Seizure action plans (SAPs) provide valuable information for patients to manage seizure emergencies, but are underutilized in adult epilepsy centers. The purpose of this project was to implement a structured SAP for adult patients with epilepsy.

Methods: A pre/postimplementation design was used. Provider SAP utilization rates were analyzed over a 16-week period. A pre and postimplementation survey assessed participant perceived impact of the SAP on knowledge and comfort associated with managing seizure emergencies. Provider barriers and facilitators were also assessed.

Results: Average provider SAP utilization rate was 51.45%. A total of 204 participants completed the surveys, which showed a significant increase in knowledge and comfort for all items, p < 0.001. At postsurvey analysis, 98% of participants felt that all patients with epilepsy should have a SAP regardless of seizure burden.

Discussion: Implementing a structured SAP increased provider utilization and patient and care partner knowledge and comfort of managing seizure emergencies.

Background and objectives: This cross-sectional observational study retrospectively examined clinical data collected from adolescents and young adults (AYAs) seeking care in a specialty headache clinic. We characterized participants' headache characteristics and psychological functioning and examined the association between self-reported anxiety and depressive symptoms and headache frequency, severity, and disability.

Methods: During their clinic visit, AYAs (M age = 18.36; range = 14-32, 79.5% female) completed an intake questionnaire and reported about their headache characteristics (i.e., frequency, severity, and duration of symptoms in months), mental health history (i.e., previous diagnosis of an anxiety or depressive disorder), and utilization of emergency department (ED) services for migraine. AYAs also completed psychometrically validated screening tools for anxiety and depressive symptoms (i.e., the GAD-7 and PHQ-9). We computed descriptive statistics and examined associations among scores on psychological measures and headache characteristics, including migraine-related disability. We also tested whether individuals with clinically elevated GAD-7 and PHQ-9 scores had higher levels of disability relative to those with fewer/subclinical levels of anxiety and depressive symptoms.

Results: Participants (N = 283) reported more than 19 headache days per month on average, with more than 90% describing their average headache intensity as moderate or severe. Nearly half of AYAs reported severe headache-related disability. Approximately one-quarter of AYAs reported a previous diagnosis anxiety or depressive disorder diagnosis, and more than one-third scored above clinical cutoffs on the PHQ-9 and GAD-7. Higher scores on both psychological screening instruments were associated with greater headache frequency. More than 10% of patients endorsed current suicidal ideation; this was not related to headache-related disability. Participants reported a high degree of ED utilization for headache; these rates were unrelated to endorsement of psychological comorbidities.

Discussion: In this sample of AYAs, headache characteristics were generally unrelated to scores on measures on psychological functioning. However, the observed rates of clinically elevated anxiety/depressive symptoms and suicidality in this sample of AYAs underscore the importance of screening for psychological comorbidities in neurology clinics that serve this age group, irrespective of self-reported disability. Results also emphasize the need to expand access to behavioral health services for AYAs with headache disorders and the importance of incorporating a biopsychosocial perspective to the transition of health care from pediatrics to adult neurology practice.