Cognitive and psychological dysfunction is present after a first seizure, prior to epilepsy diagnosis and treatment at a First Seizure Clinic.

OBJECTIVE: Neuropsychological comorbidities found in chronic epilepsy have also been reported earlier in the disease course. However, recurrent seizures, antiseizure medication (ASM), and adjustment to a chronic diagnosis remain potential confounds of this literature. It thus remains unclear whether these comorbidities are primary or secondary attributes of epilepsy. To capture individuals as close to disease onset as possible, we studied the cognitive and psychological functioning in adults after their first seizure, yet prior to epilepsy diagnosis and treatment. METHODS: Using a telehealth-based prospective design, we screened cognition, mood, and anxiety symptoms in adult patients referred to a First Seizure Clinic (FSC), who were over 18 years, English-speaking and not taking ASM. We screened cognition via telephone, and psychological symptoms via online questionnaires, all prior to the patients' diagnostic evaluation. Data were collected on 32 individuals subsequently diagnosed with epilepsy at the FSC, and 30 healthy controls from the community, who were matched to the epilepsy group for age, gender, and education. RESULTS: A multivariate analysis of variance revealed that the groups differed significantly on combined cognitive measures with a large effect size (F[1,56] = 5.75, p < 0.001, η2 = 0.45). Post-hoc analyses showed that performances on measures of verbal memory, working memory, and executive functions were significantly worse for the newly diagnosed epilepsy group than controls. The epilepsy group also exhibited higher rates of clinically significant depressive and anxiety symptoms. SIGNIFICANCE: Cognitive and psychological dysfunction is prevalent in people with epilepsy as early as the first seizure event, before the influence of diagnosis, ASM and recurrent seizures. Their neuropsychological profile parallels that seen in chronic epilepsy, showing that this dysfunction is already present at the very onset of the disease. The current study demonstrates the viability of telehealth neuropsychological screening for all new epilepsy cases. PLAIN LANGUAGE STATEMENT: The results of this study show, using telephone-based cognitive assessment and online questionnaires, that people with newly diagnosed epilepsy can experience problems with their thinking and memory skills, and low mood and anxiety, as early as after their first seizure. These issues are apparent at the very beginning of the disease, before an epilepsy diagnosis is made and before antiseizure medication is commenced, which suggests that they are due to the underlying brain disturbance, rather than the secondary effects of seizures, treatment, or lifestyle changes. Telehealth-screening of thinking skills and mental health for all new epilepsy cases is recommended to promote early management of such problems.

Work productivity, quality of life, and care needs: An unfolding epilepsy burden revealed in the Australian Epilepsy Project pilot study.

OBJECTIVE: Epilepsy is a common and serious neurological disorder. This cross-sectional analysis addresses the burden of epilepsy at different stages of the disease. METHODS: This pilot study is embedded within the Australian Epilepsy Project (AEP), aiming to provide epilepsy support through a national network of dedicated sites. For this analysis, adults aged 18-65 years with first unprovoked seizure (FUS), newly diagnosed epilepsy (NDE), or drug-resistant epilepsy (DRE) were recruited between February-August 2022. Baseline clinicodemographic data were collected from the participants who completed questionnaires to assess their quality of life (QOLIE-31, EQ-5D-5L), work productivity (Work Productivity and Activity Impairment [WPAI]), and care needs. Univariate analysis and multivariate regression was performed. RESULTS: 172 participants formed the study cohort (median age 34, interquartile range [IQR]: 26-45), comprising FUS (n = 44), NDE (n = 53), and DRE (n = 75). Mean QOLIE-31 score was 56 (standard deviation [SD] ± 18) and median EQ-5D-5L score was 0.77 (IQR: 0.56-0.92). QOLIE-31 but not EQ-5D-5L scores were significantly lower in the DRE group compared to FUS and NDE groups (p < 0.001). Overall, 64.5% of participants participated in paid work, with fewer DRE (52.0%) compared with FUS (76.7%) and NDE (72.5%) (p < 0.001). Compared to those not in paid employment, those in paid employment had significantly higher quality of life scores (p < 0.001). Almost 5.8% of participants required formal care (median 20 h/week, IQR: 12-55) and 17.7% required informal care (median 16 h/week, IQR: 7-101). SIGNIFICANCE: Epilepsy is associated with a large burden in terms of quality of life, productivity and care needs. PLAIN LANGUAGE SUMMARY: This is a pilot study from the Australian Epilepsy Project (AEP). It reports health economic data for adults of working age who live with epilepsy. It found that people with focal drug-resistant epilepsy had lower quality of life scores and were less likely to participate in paid employment compared to people with new diagnosis epilepsy. This study provides important local data regarding the burden of epilepsy and will help researchers in the future to measure the impact of the AEP on important personal and societal health economic outcomes.

Exploring individual fixel-based white matter abnormalities in epilepsy.

Diffusion MRI has provided insight into the widespread structural connectivity changes that characterize epilepsies. Although syndrome-specific white matter abnormalities have been demonstrated, studies to date have predominantly relied on statistical comparisons between patient and control groups. For diffusion MRI techniques to be of clinical value, they should be able to detect white matter microstructural changes in individual patients. In this study, we apply an individualized approach to a technique known as fixel-based analysis, to examine fibre-tract-specific abnormalities in individuals with epilepsy. We explore the potential clinical value of this individualized fixel-based approach in epilepsy patients with differing syndromic diagnoses. Diffusion MRI data from 90 neurologically healthy control participants and 10 patients with epilepsy (temporal lobe epilepsy, progressive myoclonus epilepsy, and Dravet Syndrome, malformations of cortical development) were included in this study. Measures of fibre density and cross-section were extracted for all participants across brain white matter fixels, and mean values were computed within select tracts-of-interest. Scanner harmonized and normalized data were then used to compute Z-scores for individual patients with epilepsy. White matter abnormalities were observed in distinct patterns in individual patients with epilepsy, both at the tract and fixel level. For patients with specific epilepsy syndromes, the detected white matter abnormalities were in line with expected syndrome-specific clinical phenotypes. In patients with lesional epilepsies (e.g. hippocampal sclerosis, periventricular nodular heterotopia, and bottom-of-sulcus dysplasia), white matter abnormalities were spatially concordant with lesion location. This proof-of-principle study demonstrates the clinical potential of translating advanced diffusion MRI methodology to individual-patient-level use in epilepsy. This technique could be useful both in aiding diagnosis of specific epilepsy syndromes, and in localizing structural abnormalities, and is readily amenable to other neurological disorders. We have included code and data for this study so that individualized white matter changes can be explored robustly in larger cohorts in future work.

Increased rates of invasive bacterial disease in late 2022.

Invasive bacterial disease is associated with significant morbidity and mortality. In winter 2022, there was an apparent increased rate of invasive bacterial disease compared to preceding years. Cross-site retrospective analysis of the three Children's Health Ireland (CHI) hospitals looking at children admitted between 1st October 2022-31st December 2022 (Q4) with community-acquired invasive bacterial disease, defined as an abscess in a normally sterile site in the head, neck and chest or isolation or PCR detection of Streptococcus pneumoniae, Neisseria meningitidis, Streptococcus pyogenes (Group A streptococcus) or Haemophilus influenzae from a normally sterile site. Case numbers were compared to Q4 in each of 2018-2021. Eighty-two children met the case definition in Q4 2022 vs 97 (Q4 2018-2021). In 2022, 42/82 (51%) were female, median age 3.75 years (1.5-8.25 years). Only 2 (2%) were immunosuppressed and 2 others (2%) had underlying neurodisability. Fifty (61%) were admitted on second or subsequent presentation to a healthcare setting. Fifty-six (68%) had an abscess in a sterile site. Bloodstream infection (positive blood culture or PCR: 24 (29%)) was the most common site of infection, followed by neck 22 (27%) and intracranial 12 (15%). Group A streptococcus (GAS) 27 (33%) was the most common organism isolated. Seven cases (9%) died in 2022 compared to 2 patients (2%) from 2018 to 2021 (p < 0.05). More children had Paediatric Overall Performance Category (POPC) scores > 1 in 2022 than 2018-2021 (p = 0.003).  Conclusion: Invasive bacterial diseases increased in Q4 2022 with higher morbidity and mortality than in the preceding 4 years. Group A streptococcal infection was the most significant organism in 2022. What is known: • Invasive bacterial disease is the leading cause of childhood mortality globally. • There was an increase in cases of invasive Group A streptococcus infections reported in many countries (including Ireland) during the winter of 2022/23. What is new: • Head, neck and chest abscesses increased in Q4 of 2022 compared to the previous 4 years combined. • Invasive bacterial infections in Q4 of 2022 were associated with higher rates of mortality (9%), paediatric intensive care unit (PICU) admission (24%) and requirement for surgical drainage or intervention (67%) than in the preceding years.

Neuropsychological function in psychosis of epilepsy.

OBJECTIVE: The neuropsychological profile of patients with psychosis of epilepsy (POE) has received limited research attention. Recent neuroimaging work in POE has identified structural network pathology in the default mode network and the cognitive control network. This study examined the neuropsychological profile of POE focusing on cognitive domains subserved by these networks. METHODS: Twelve consecutive patients with a diagnosis of POE were prospectively recruited from the Comprehensive Epilepsy Programmes at The Royal Melbourne, Austin and St Vincent's Hospitals, Melbourne, Australia between January 2015 and February 2017. They were compared to 12 matched patients with epilepsy but no psychosis and 42 healthy controls on standardised neuropsychological tests of memory and executive functioning in a case-control design. RESULTS: Mean scores across all cognitive tasks showed a graded pattern of impairment, with the POE group showing the poorest performance, followed by the epilepsy without psychosis and the healthy control groups. This was associated with significant group-level differences on measures of working memory (p = < 0.01); immediate (p = < 0.01) and delayed verbal recall (p = < 0.01); visual memory (p < 0.001); and verbal fluency (p = 0.02). In particular, patients with POE performed significantly worse than the healthy control group on measures of both cognitive control (p = .005) and memory (p < .001), whereas the epilepsy without psychosis group showed only memory difficulties (delayed verbal recall) compared to healthy controls (p = .001). CONCLUSION: People with POE show reduced performance in neuropsychological functions supported by the default mode and cognitive control networks, when compared to both healthy participants and people with epilepsy without psychosis.

RAJONCHOCOTYLE CERFONTAINE, 1899 (MONOGENEA: HEXABOTHRIIDAE) SPECIES FROM SOUTH AFRICA, WITH DISCUSSION OF THE LITERARY ACCOUNTS OF R. EMARGINATA (OLSSON, 1876).

Rajonchocotyle Cerfontaine, 1899, species are blood-feeding parasites on the gills of rajiforms. Eight species are considered valid, the most recent of which was described just after World War II. Many of the original descriptions of Rajonchocotyle species are limited in diagnostic value, and comparative museum material is scanty. The genus requires revision, and in support thereof, we provide detailed redescriptions for Rajonchocotyle albaCerfontaine, 1899, from the type host Rostroraja alba (Lacepède, 1803) and Rajonchocotyle emarginata (Olsson, 1876), Sproston, 1946, from 2 new host records, Raja straeleni Poll, 1951, and Leucoraja wallacei (Hulley, 1970), from South Africa, a new locality record. The generic diagnosis for Rajonchocotyle is amended to include greater details of the male reproductive system and confirms Paul Cerfontaine's and Nora Sproston's historic observations of the morphology of the male copulatory organ consisting of a separate proximal seminal vesicle and a distal cirrus. The lectotype of Rajonchocotyle kenojeiYamaguti, 1938, is assigned, and a comprehensive Rajonchocotyle-host species list is provided, highlighting species records that require further verification, and the purported global host range of R. emarginata is discussed.

Species of Hexabothriidae (Monogenea) may have extensive distribution ranges reflecting multiple host species: evidence from three new South African records.

Many hexabothriid genera require renewed taxonomic attention to provide additional detailed comparative data from new material to resolve existing species quandaries. Our current study describes and provides additional museum material for three hexabothriid species from three genera from South Africa: Erpocotyle catenulata (Guberlet), which is confirmed as a valid species, Heteronchocotyle gymnurae Neifar, Euzet and Ben Hassine, and Hypanocotyle bullardi Chero, Cruces, Sáez, Carolina, Camargo, Portes Santos and Luque. Evidence of these three hexabothriid species from South Africa suggests that hexabothriids have more globally widespread distributions, and that they are less host-specific than previously considered. A detailed summary of hexabothriids reported from the triakid hosts, Galeorhinus galeus and Mustelus mustelus is provided, and the host-specificity of hexabothriids is discussed.

How do fishes manage disease?

Disease drives the evolution of proactive and reactive mitigation behaviours in fishes as for terrestrial animals. Understanding fish self-remedy behaviours could discover algal bioactives, reveal novel strategies for disease management, identify new habitats or ecosystems critical to population health and conservation, and enhance knowledge of interspecific evolutionary relationships and communication.

Increased cortical thickness in nodes of the cognitive control and default mode networks in psychosis of epilepsy.

OBJECTIVE: To explore the cortical morphological associations of the psychoses of epilepsy. METHODS: Psychosis of epilepsy (POE) has two main subtypes - postictal psychosis and interictal psychosis. We used automated surface-based analysis of magnetic resonance images to compare cortical thickness, area, and volume across the whole brain between: (i) all patients with POE (n = 23) relative to epilepsy-without psychosis controls (EC; n = 23), (ii) patients with interictal psychosis (n = 10) or postictal psychosis (n = 13) relative to EC, and (iii) patients with postictal psychosis (n = 13) relative to patients with interictal psychosis (n = 10). RESULTS: POE is characterised by cortical thickening relative to EC, occurring primarily in nodes of the cognitive control network; (rostral anterior cingulate, caudal anterior cingulate, middle frontal gyrus), and the default mode network (posterior cingulate, medial paracentral gyrus, and precuneus). Patients with interictal psychosis displayed cortical thickening in the left hemisphere in occipital and temporal regions relative to EC (lateral occipital cortex, lingual, fusiform, and inferior temporal gyri), which was evident to a lesser extent in postictal psychosis patients. There were no significant differences in cortical thickness, area, or volume between the postictal psychosis and EC groups, or between the postictal psychosis and interictal psychosis groups. However, prior to correction for multiple comparisons, both the interictal psychosis and postictal psychosis groups displayed cortical thickening relative to EC in highly similar regions to those identified in the POE group overall. SIGNIFICANCE: The results show cortical thickening in POE overall, primarily in nodes of the cognitive control and default mode networks, compared to patients with epilepsy without psychosis. Additional thickening in temporal and occipital neocortex implicated in the dorsal and ventral visual pathways may differentiate interictal psychosis from postictal psychosis. A novel mechanism for cortical thickening in POE is proposed whereby normal synaptic pruning processes are interrupted by seizure onset.

Post-translational dysregulation of glucose uptake during exhaustive cycling exercise in vastus lateralis muscle of healthy homozygous carriers of the ACE deletion allele.

Homozygous carriers of the deletion allele in the gene for angiotensin-converting enzyme (ACE-DD) demonstrate an elevated risk to develop inactivity-related type II diabetes and show an overshoot of blood glucose concentration with enduring exercise compared to insertion allele carriers. We hypothesized that ACE-DD genotypes exhibit a perturbed activity of signaling processes governing capillary-dependent glucose uptake in vastus lateralis muscle during exhaustive cycling exercise, which is associated with the aerobic fitness state. 27 healthy, male white Caucasian subjects (26.8 ± 1.1 years; BMI 23.6 +/- 0.6 kg m-2) were characterized for their aerobic fitness based on a threshold of 50 ml O2 min-1 kg-1 and the ACE-I/D genotype. Subjects completed a session of exhaustive one-legged exercise in the fasted state under concomitant measurement of cardiorespiratory function. Capillary blood and biopsies were collected before, and ½ and 8 h after exercise to quantify glucose and lipid metabolism-related compounds (lipoproteins, total cholesterol, ketones) in blood, the phosphorylation of 45 signaling proteins, muscle glycogen and capillaries. Effects of aerobic fitness, ACE-I/D genotype, and exercise were assessed with analysis of variance (ANOVA) under the hypothesis of a dominant effect of the insertion allele. Exertion with one-legged exercise manifested in a reduction of glycogen concentration ½ h after exercise (-0.046 mg glycogen mg-1 protein). Blood glucose concentration rose immediately after exercise in association with the ACE-I/D genotype (ACE-DD: +26%, ACE-ID/II: +6%) and independent of the fitness state (p = 0.452). Variability in total cholesterol was associated with exercise and fitness. In fit subjects, the phosphorylation levels of glucose uptake-regulating kinases [AKT-pT308 (+156%), SRC-pY419, p38α-pT180/T182, HCK-pY411], as well as cytokine/angiotensin 1-7 signaling factors [(STAT5A-pY694, STAT5B-pY699, FYN-pY420, EGFR-pY1086] were higher in angiotensin converting enzyme I-allele carriers than ACE-DD genotypes after exercise. Conversely, the AKT-S473 phosphorylation level (+117%) and angiotensin 2's blood concentration (+191%) were higher in ACE-DD genotypes. AKT-S473 phosphorylation levels post-exercise correlated to anatomical parameters of muscle performance and metabolic parameters (p < 0.05 and │r│>0.70). The observations identify reciprocal alterations of S473 and T308 phosphorylation of AKT as gatekeeper of a post-translational dysregulation of transcapillary glucose uptake in ACE-DD genotypes which may be targeted in personalized approaches to mitigate type II diabetes.

Cleaner fish are potential super-spreaders.

Cleaning symbiosis is critical for maintaining healthy biological communities in tropical marine ecosystems. However, potential negative impacts of mutualism, such as the transmission of pathogens and parasites during cleaning interactions, have rarely been evaluated. Here, we investigated whether the dedicated bluestreak cleaner wrasse, Labroides dimidiatus, is susceptible to and can transmit generalist ectoparasites between client fish. In laboratory experiments, L. dimidiatus were exposed to infective stages of three generalist ectoparasite species with contrasting life histories. Labroides dimidiatus were susceptible to infection by the gnathiid isopod Gnathia aureamaculosa, but were significantly less susceptible to the ciliate protozoan Cryptocaryon irritans and the monogenean flatworm Neobenedenia girellae, compared with control host species (Coris batuensis or Lates calcarifer). The potential for parasite transmission from a client fish to the cleaner fish was simulated using experimentally transplanted mobile adult (i.e. egg-producing) monogenean flatworms on L. dimidiatus. Parasites remained attached to cleaners for an average of 2 days, during which parasite egg production continued, but was reduced compared with that on control fish. Over this timespan, a wild cleaner may engage in several thousand cleaning interactions, providing numerous opportunities for mobile parasites to exploit cleaners as vectors. Our study provides the first experimental evidence that L. dimidiatus exhibits resistance to infective stages of some parasites yet has the potential to temporarily transport adult parasites. We propose that some parasites that evade being eaten by cleaner fish could exploit cleaning interactions as a mechanism for transmission and spread.

An analysis of complaints about hospital care in the Republic of Ireland.

BACKGROUND: Patients and family members make complaints about their hospital care in order to express their dissatisfaction with the care received and prompt quality improvement. Increasingly, it is being understood that these complaints could serve as important data on how to improve care if analysed using a standardized tool. The use of the Healthcare Complaints Analysis Tool (HCAT) for this purpose has emerged internationally for quality and safety improvement. Previous work has identified hot spots (areas in care where harm occurs frequently) and blind spots (areas in care that are difficult for staff members to observe) from complaints analysis. This study aimed to (i) apply the HCAT to a sample of complaints about hospital care in the Republic of Ireland (RoI) to identify hot spots and blind spots in care and (ii) compare the findings of this analysis to a previously published study on hospital complaints in the UK. METHODS: A sample of complaints was taken from 16 hospitals in the RoI in Quarter 4 of 2019 (n = 641). These complaints were coded using the HCAT to classify complaints by domain, category, severity, stage of care and harm. Chi-squared tests were used to identify hot spots, and logistic regression was used to identify blind spots. The findings of this study were compared to a previously published UK study that used HCAT to identify hot spots and blind spots. RESULTS: Hot spots were identified in Irish hospital complaints while patients were receiving care on the ward, during initial examination and diagnosis, and while they were undergoing operations or procedures. This aligned with hot spots identified in the UK study. Blind spots were found for systemic problems, where patients experience multiple issues across their care. CONCLUSIONS: Hot spots and blind spots for patient harm can be identified in hospital care using the HCAT analysis. These in turn could be used to inform improvement interventions, and direct stakeholders to areas that require urgent attention. This study also highlights the promise of the HCAT for use across different healthcare systems, with similar results emerging from the RoI and the UK.

Seizure Duration and Spread Dynamics in MRI-Defined Subtypes of Temporal Lobe Epilepsy.

BACKGROUND AND OBJECTIVES: MRI and PET imaging enables subgroups of temporal lobe epilepsy (TLE) to be defined on the basis of structural pathology. Few studies have examined the variation in electroclinical seizure spread patterns based on imaging findings. We performed a retrospective cohort study to investigate the electroclinical differences among 3 specific groups of TLE: MRI-negative PET-positive TLE (MRI-negative TLE), temporal lobe lesion TLE (lesional TLE), and unilateral hippocampal sclerosis TLE (HS-TLE). METHODS: Patients with an electroclinical diagnosis of TLE who had video-scalp EEG recordings of seizures were identified from the retrospective database of the Austin Comprehensive Epilepsy Program between 2005 and 2019. The cohort was further selected into the 3 defined groups based on imaging findings, using MRI and FDG-PET. Timings of clinical and electrographic seizure progression were measured, considering the onset, ipsilateral lobar spread, contralateral spread, and termination. Durations were compared between groups using linear mixed models with inclusion of demographic and clinical covariates. RESULTS: A total of 105 patients (137 seizures) were included, comprising 36 with MRI-negative TLE (54 seizures), 36 with lesional TLE (18 lateral vs 16 mesial lesions; 44 seizures), and 33 with HS-TLE (39 seizures). Seizure duration was similar between MRI-negative TLE and lesional TLE (mean 75.9 vs 71.7 seconds; p = 0.91). Further dividing lesional TLE into medial vs lateral temporal revealed no timing difference. However, the HS-TLE group had longer total seizure duration (114 seconds) compared with both MRI-negative TLE (p < 0.001) and lesional TLE (p < 0.001). Progression of electrographic spread also reflected this pattern, with involvement of extratemporal regions and then the contralateral hemisphere each taking significantly longer in HS-TLE. DISCUSSION: MRI-negative TLE appears electrographically similar to lesional TLE, whether mesial or lateral, in the duration of seizures and the timing of electrographic spread. Both appear electrographically different from HS-TLE, where propagation is slower, suggesting engagement of different epileptogenic networks or seizure suppression mechanisms. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that the electroclinical features of seizures in HS-TLE are different than MRI-negative TLE and lesional TLE.

Bilateral Structural Network Abnormalities in Epilepsy Associated With Bottom-of-Sulcus Dysplasia.

BACKGROUND AND OBJECTIVES: To identify white matter fiber tracts that exhibit structural abnormality in patients with bottom-of-sulcus dysplasia (BOSD) and investigate their association with seizure activity. METHODS: Whole-brain fixel-based analysis of diffusion MRI data was performed to identify white matter fiber tracts with significant reductions in fiber density and cross-section in patients with BOSD (n = 20) when compared to healthy control participants (n = 40). Results from whole-brain analysis were used to investigate the association of fiber tract abnormality with seizure frequency and epilepsy duration. RESULTS: Despite the focal nature of the dysplasia, patients with BOSD showed widespread abnormality in white matter fiber tracts, including the bilateral corticospinal, corticothalamic, and cerebellothalamic tracts, superior longitudinal fasciculi, corpus callosum (body), and the forceps major. This pattern of bilateral connectivity reduction was not related to the laterality of the lesion. Exploratory post hoc analyses showed that high seizure frequency was associated with greater reduction in fiber density at the forceps major, bilateral corticospinal, and cerebellothalamic tracts. DISCUSSION: We demonstrate evidence of a bilaterally distributed, specific white matter network that is vulnerable to disruption in BOSD. The degree of tract abnormality is partly related to seizure activity, but additional contributors such as the genetic background and effects of treatment or environment have not been excluded.

Prospective multisite cohort study of patient-reported outcomes in adults with new-onset seizures.

OBJECTIVE: New-onset seizures affect up to 10% of people over their lifetime, however, their health economic impact has not been well-studied. This prospective multicenter study will collect patient-reported outcome measures (PROMs) from adults with new-onset seizures seen in six Seizure Clinics across Melbourne, Australia and The University of Colorado, USA. METHODS: Approximately 450 eligible patients will be enrolled in the study at or following their initial attendance to Seizure Clinics at the study hospitals. Inclusion criteria for the study group are those with new-onset acute symptomatic seizures, new-onset unprovoked seizures, and new-onset epilepsy. Inclusion criteria for the three comparator groups are those with noncardiac syncope, those with psychogenic nonepileptic seizures, as well as published PROMs data from the Australian general population. Exclusion criteria are those aged less than 18 years, those with a preexisting epilepsy diagnosis, and those with intellectual disabilities or other impairments which would preclude them from comprehending and completing the questionnaires. Patients will complete eight online questionnaires regarding the effect that their seizures (or seizure mimics) have had on various aspects of their life. These questionnaires will be readministered at 6 and 12 months. Patients with new-diagnosis epilepsy will also be asked to share the reasons why they have accepted or declined antiseizure medications. ANALYSIS: Primary outcome measures will be quality of life, work productivity, informal care needs, and mood, at baseline compared to 6 and 12 months later for those with new-onset seizures and comparing these outcomes to those in the three comparator groups. Secondary outcomes include mapping of QoLIE-31 to the EQ-5D-5L in epilepsy, modelling indirect costs of new-onset seizures, and exploring why patients may or may not wish to take antiseizure medications. SIGNIFICANCE: These data will form an evidence-base for future studies that examine the effectiveness of various healthcare interventions for new-onset seizure patients. ETHICS AND DISSEMINATION: This study is approved by the Alfred Health Human Research Ethics Committee (SERP: 52 538, Alfred HREC: 307/19), the Austin Health Human Research Ethics Committee (HREC/59148/Austin-2019), and the Colorado Multiple Institutional Review Board (COMIRB) (COMIRB #20-3028). ANZCTR TRIAL REGISTRATION NUMBER: ACTRN12621000908831.

Extending the phenotype of posterior column ataxia with retinitis pigmentosa caused by variants in FLVCR1.

Posterior column ataxia with retinitis pigmentosa (PCARP) is a rare autosomal recessive condition due to variants in the Feline Leukemia Virus Subgroup C Cellular Receptor 1 (FLVCR1) gene which was first described in 1997. In this article, we describe a young female patient with a childhood diagnosis of retinitis pigmentosa and learning disability, presenting with progressive ataxia from her late teens. Examination revealed spastic lower limbs with absent reflexes, and reduced vibration and joint position sensation. Magnetic resonance imaging showed normal cerebellar volume and linear signal abnormality within the posterior columns of her spinal cord. Trio exome analysis confirmed two variants in FLVCR1. Our case extends the phenotype of PCARP to include learning disability and developmental delay, and highlights the importance of considering this rare condition in young adults or children with visual impairment and ataxia.

Vocal cord paralysis as a presenting sign of autosomal recessive spinocerebellar atrophy type 10.

Acquired vocal cord paralysis (VCP) is caused by dysfunction or injury of one or both recurrent laryngeal nerves. Here we report a 41-year-old man with spinocerebellar atrophy, autosomal recessive type 10 (SCAR10) due to an autosomal recessive mutation in the ANO10 gene, with VCP as the presenting symptom. He later developed ataxia and speech disturbance.