BMJ Neurology Open最新文献

Background: The updated International Panel's diagnostic criteria for multiple sclerosis (2024 revision of McDonald criteria) have for the first time included the optic nerve as the fifth location for dissemination in space (DIS) criterion. The new requirement consists of evidence of significant retinal asymmetry. However, this can be challenging in the acute phase in absence of optic disc swelling. Here, we have investigated the sensitivity of retinal asymmetry over time, from the acute to the chronic phase of optic neuritis.

Methods: This observational study analysed longitudinal optical coherence tomography (OCT) images of 25 patients with optic neuritis and 5 healthy controls. Spectral domain OCT scans were obtained from the macula and optic disc. The peripapillary retinal nerve fibre layer (pRNFL), macular ganglion cell (mGCL) and inner plexiform layers (mIPL) were measured in the acute (≤7 days), subacute (between 1 and 12 weeks) and chronic (>3 months) phase.

Results: The OCT measurements showed progressive thinning in pRNFL and mGCIPL layers as the disease progressed. In the acute phase, the sensitivity of the pRNFL was 69% (due to optic disc swelling) and for the mGCPL 27%. In the chronic phase, sensitivity levels increased up to 76% (pRNFL) and 88% (mGCIPL) due to atrophy.

Conclusions: A clear understanding of the temporal dynamics of diagnostic findings is important. For OCT, the highest diagnostic sensitivity is achieved for the mGCIPL in the chronic phase. This should be taken into account for timing the test in patients where the acquisition of optic nerve involvement is essential for DIS.

Background: Criteria-led transfer allows transfer of select stroke patients to inpatient rehabilitation without rehabilitation physician review, which may be a barrier for timely transfers.

Objective: Primary: determine the proportion of patients transferred via criteria-led transfer and waitlist time. Secondary: determine the number of unplanned 30-day acute hospital representations and readmissions from inpatient rehabilitation, and number of daily allied health contacts while waitlisted.

Method: A single-centre retrospective analysis was conducted on all patients transferred from the acute stroke unit to inpatient rehabilitation in 2023.

Results: 178 (79%) patients successfully used criteria-led transfer, 22 (9.5%) did not meet criteria and the remainder attended inpatient rehabilitation via a separate pathway. Median waitlist time (in days) was shorter for criteria led transfer patients compared with those who did not meet criteria (3 (1-5) vs 5 (3-8), p=0.005). Emergency department representation rates were lower in the criteria-led transfer cohort (30 (16.9%) vs 8 (36.3%), p=0.03) compared with those who did not meet criteria. No difference in readmission rates was seen (p=0.22). Waitlisted patients received 1 (0.5-1.5) allied health reviews daily.

Conclusions: Criteria-led transfer is associated with shorter waitlist times for transfer to rehabilitation without increased adverse events. Further research is needed to determine result generalisability.

Background: As the average age of multiple sclerosis (MS) population rises globally, unclear guidelines on disease-modifying therapy (DMT) use in older persons with MS (pwMS) contribute to increased variability in clinical practice. The factors driving DMT utilisation in this population are not well understood. We explored DMT utilisation patterns in pwMS aged 55 and older enrolled in the Swiss MS Registry (SMSR), a nationwide observational study with voluntary participation.

Methods: We conducted an exploratory analysis using data from SMSR participants who had reported DMT status in the most recent follow-up survey and at least once within the previous 3 years. Participants were categorised and compared by current and past DMT use: No DMT (no use), Stopped (prior use), Continued (same DMT), Switcher (changed DMT) and New (initiated DMT). Log-binomial regression identified factors associated with non-use, grouping participants as No DMT (No DMT, Stopped) and DMT (Continued, Switcher, New).

Results: Among 378 participants (mean age 63.2±6.7 years), 206 (54.5%) reported DMT use: 176 (46.6%) continued the same DMT, 20 (5.3%) switched and 10 (2.6%) newly initiated DMT. Among non-users, 54 (14.3%) had stopped treatment, while the rest did not use DMT during the study period. In participants with regular neurological care, longer MS duration (relative risk (RR)=1.018, 95% CI 1.008 to 1.028) and older age (RR=1.016, 95% CI: 1.001 to 1.032) were associated with higher likelihood of DMT non-use, and participants with primary (RR=1.736, 95% CI: 1.175 to 2.565) and secondary progressive MS (RR=1.423, 95% CI: 1.023 to 1.981) were more likely not to use DMTs compared with relapsing-remitting MS. No significant associations were observed in participants without regular neurological follow-up.

Conclusions: Despite unclear efficacy and safety, many older pwMS continue DMT use. Use is primarily associated with relapsing-remitting MS, while age and disease duration show only modest or no association.

Background: The Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM) is a standardised framework for organising healthcare data. This study uses data in the OMOP CDM format to analyse information on neurology patients.

Methods: Routinely collected data harmonised to OMOP at a large referral hospital in England were used. A study cohort was defined as patients who attended at least one neurology outpatient appointment between 01 April 2022 and 31 March 2023 (n=23 862). Data collected at all visits to the hospital made by this cohort between 01 April 2021 and 31 March 2024 were extracted. The cohort was then divided into four subcohorts according to appointment types attended: outpatient appointment(s) only (n=15 2); outpatient appointment(s) and inpatient stay(s) (n=2750); outpatient appointment(s) and emergency department attendance(s) (n=1658); outpatient appointment(s), inpatient stay(s) and emergency department attendance(s) (n=4199).

Results: We found there to be more data available for patients who had at least one inpatient stay or emergency department attendance than for those with only outpatient appointments. Notably, an average of 0 out of 100 patients in the outpatient only subcohort had a record of a condition, compared with 100 out of 100 patients in the subcohort with outpatient appointments, emergency attendances and inpatient stays.

Conclusions: Neurology outpatients have far less data recorded than inpatients or patients attending emergency departments. This disparity arises from the lack of outpatient diagnostic coding and impairs the advancement of research in this area. Using the OMOP CDM structure makes it easy to highlight these differences.

Background: Placebo effects are powerful and have been suggested to be particularly relevant in certain neurological conditions, including functional neurological disorder (FND).

Methods: A survey on attitudes towards and current practice of deceptive placebo treatments and ethical alternatives, notably positive suggestion, trust and open-label placebo was performed among health professionals and lay people with and without neurological diagnoses.

Results: 116 healthcare professionals and 631 lay people (176 FND, 332 with other neurological diagnoses, 61 with medical diagnoses, 62 healthy controls) completed the survey.71% of lay people but only 46% of healthcare professionals were in favour of deceptive placebo treatments. Among lay people, healthy individuals were most in favour (87%), and people with FND were least in favour (62%). All groups were sceptical towards open-label placebo, yet neurologists were most open to this practice.Placebo was considered more effective for functional than non-functional disorders by healthcare professionals, but not by patients. Healthcare professionals reported only rarely using placebo in clinical practice, and if so, mainly in the diagnosis or treatment of FND.

Conclusions: This is the first survey on opinions and current practice of placebo treatments in neurological practice. The results show a mixed picture, with deceptive placebos being perceived as effective and acceptable by most lay people (though strongly opposed by some, particularly by some patients with FND) and mostly considered more negatively by healthcare professionals. Ethically acceptable alternatives of harnessing the power of placebo without deception were considered with scepticism by all respondents, but least so by neurologists.

Background: Epilepsy-related ligand-receptor complex, leucine-rich glioma-inactivated 1 (LGI1)-a disintegrin and metalloproteinase 22 (ADAM22), regulates neuronal excitability and synaptic transmission and has emerged as a determinant of brain excitability. Epilepsy-related variants have been described in both LGI1 and ADAM 22 genes. A partial epilepsy, autosomal dominant lateral temporal epilepsy (ADLTE) is caused by an LGI1 heterozygous variant. A recessive developmental and epileptic encephalopathy with infantile onset is due to homozygous inactivating ADAM22 variants.

Objective: We present the case of Moroccan siblings with epileptic encephalopathy due to a homozygous variant within the LGI1 gene previously unreported in the homozygous state.

Methods: We performed whole-exome sequencing and family segregation analysis to identify and confirm the genetic cause of the condition in the affected siblings.

Results: The clinical features mimic ADAM22-related developmental and epileptic encephalopathy rather than the typical LGI1-associated autosomal dominant lateral temporal epilepsy. Family segregation analysis demonstrated variable expressivity, with asymptomatic carrier parents and a cousin with focal temporal epilepsy carrying the variant in the heterozygous state.

Conclusion: This case highlights a homozygous LGI1 variant previously unreported in the homozygous state, leading to a clinical presentation more reminiscent of ADAM22-related pathology rather than the classical ADLTE, expanding our understanding of LGI1-associated conditions.

Introduction: One in six stroke survivors continue to experience arm and language disability at 3 months post-stroke. This study aims to identify which model(s) of integrated UPper limb and Language Impairment and Functional Training (UPLIFT) show promise for people 3 months to 24 months post-stroke. We hypothesise that at least one promising UPLIFT model of rehabilitation will be identified.

Methods and analysis: This is an adaptive Phase IIa master protocol umbrella design that includes four simultaneous Bayesian Optimal Phase II studies to evaluate individual UPLIFT interventions against prespecified objective performance criteria. The intervention is upper limb and language training at 2 or 4 hours/day, 5 days/week for 4 weeks, delivered either in person (severe stratum) or via telerehabilitation (mild-moderate stratum). Up to 160 adult participants will be recruited across six metropolitan/regional university or healthcare hubs spanning five Australian states. Baseline and post-intervention assessments are blinded. A promising response is defined as a composite binary outcome combining indicators of promise of efficacy, safety and feasibility. For each UPLIFT intervention, the proportion of participants with a promising response will be monitored at three equally spaced, predefined interim stopping points and one final analysis point (n=40 participants/study). An intervention will be stopped if too few promising responses are observed.

Ethics and dissemination: Ethical approval was obtained from The Royal Melbourne Human Research Ethics Committee. All participating sites obtained local governance approval. All recruited participants will provide informed consent. Trial results will be disseminated through peer-reviewed publications and presented at major stroke and rehabilitation conferences.

Trial registration number: ACTRN12622000373774.

Background: Excessive daytime sleepiness (EDS) is a prevalent non-motor symptom in Parkinson's disease (PD), significantly impairing quality of life. While deep brain stimulation (DBS) effectively improves motor symptoms, its impact on EDS remains unclear.

Objective: This systematic review aims to evaluate the effects of DBS on EDS in patients with PD.

Methods: Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines, a systematic search of PubMed, Scopus, Embase and PsycInfo databases published by 2024) was conducted using terms related to DBS, EDS and PD. 20 studies met the inclusion criteria. Data on demographic characteristics, DBS parameters, sleep assessment scales and Levodopa-equivalent daily dose (LEDD) changes were extracted and analysed.

Results: Among the 20 studies, 9 reported improvements in EDS post-DBS, with a mean Epworth Sleep Scale (ESS) reduction of 26.8%. However, 11 studies found no significant change. All studies reported LEDD reductions (mean 47.7%), but only two demonstrated a significant correlation between LEDD reduction and ESS improvement. Notably, some studies revealed discrepancies between subjective improvements in sleep quality and objective measures.

Conclusion: The effect of DBS on EDS in PD remains inconclusive, with mixed findings across studies. While DBS consistently reduces LEDD and improves overall sleep quality, its direct impact on EDS varies. Further research with larger cohorts, objective sleep assessments and focus on confounders is necessary to elucidate DBS's role in managing EDS in patients with PD.

Background: Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder characterised by progressive muscle degeneration leading to severe disability and early mortality, with no cure. This disease process affects nearly every aspect of daily functioning, from basic movements to respiratory and cardiac functions, and consequently imposes a significant burden on patients, caregivers and families. We aimed to review the available literature examining the epidemiological, health-related quality of life (HRQoL) and economic burden of DMD in Australia from a societal perspective.

Methods: This scoping review was conducted by searching Embase and PubMed databases up until 22 August 2024. Two independent reviewers screened titles, abstracts and full texts. Studies that evaluated the epidemiological, HRQoL-related or economic burden of DMD in an Australian-specific context were included.

Results: We identified 169 articles and assessed the full text of 32, of which nine were included in the review. Eight studies were observational with one theoretical/computational study. Four studies addressed the epidemiological burden, estimating a birth prevalence of 18.6 to 22.7 DMD cases per 100 000 male live births. Another four studies examined the HRQoL-related burden with three generic patient-reported outcome measures (PROMs) used to assess HRQoL. Two PROMs indicated lower self-reported and parent proxy HRQoL scores in boys with DMD compared with the general population, and the other PROM evaluated parental/caregiver HRQoL. One study detailed the economic burden in 104 households, reporting significant annual socioeconomic burden of DMD associated with high levels of healthcare costs, non-medical resource use and caregiving burden to households.

Conclusions: Although the data estimating the epidemiological, HRQoL-related and economic burden of DMD in Australia is limited, existing evidence demonstrates a considerable societal burden of DMD. In the context of emerging disease-modifying therapies for DMD, it provides a summary of existing local evidence and research gaps, highlighting a need for further research.

Background: Multiple Sclerosis is a chronic inflamatory disorder. The prevalence of hyperprolactinemia in patient with MS is 6.7 %. Method: Case report. Result: This case report describes a 31-year-old woman with multiple sclerosis (MS) who presented with galactorrhea, a rare symptom of MS, along with other neurological manifestations. She had elevated serum prolactin levels and a normal-sized pituitary gland with no evidence of adenoma or lesions. The elevated serum prolactin levels were normalized after treatment with intravenous methylprednisolone. No dopaminergic drugs were used to treat her galactorrhea, which also resolved after receiving intravenous methylprednisolone. Conclusion: This case illustrates the possible association between MS and hyperprolactinaemia and if the etiology is MS there is no need for treatment of hyperprolactinemia.