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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.

Objective To examine the neuropsychological morbidity across the spectrum of patients presenting to a First Seizure Clinic, and test the hypothesis that cognitive and psychological compromise is especially prominent in those diagnosed with epilepsy. Methods A sample of 201 patients referred to the Austin Hospital First Seizure Clinic (FSC) underwent cognitive screening via telephone and psychological screening via online questionnaire, all prior to their diagnostic evaluation (and any attendant treatment recommendation) at the FSC. Rates of cognitive (i.e., scores <10th percentile) and psychological impairment (using established clinical cut scores) were compared against 35 demographically matched controls. Cognitive differences were explored between the most frequently encountered patient subgroups (epilepsy, n = 48; first unprovoked seizure, n = 24; acute symptomatic seizure, n = 24; syncope, n = 35) via a multivariate analysis of variance, with diagnostic labels applied retrospectively after a period of follow‐up. Results People with epilepsy were most likely to show cognitive impairments, particularly in learning and memory, with performances worse than all other FSC groups (F [3127] = 2.44, p = 0.03). Clinically significant depressive symptoms were similarly prevalent in all patient groups, with one in three at risk for Major Depressive Disorder. Elevated anxiety symptoms were common across patient groups; however, not significantly different to controls. Significance Cognitive impairment in epilepsy and mood problems in all FSC groups are detectable via remote screening as early as the first seizure. Learning and memory difficulties are particularly prevalent in new‐onset epilepsy and may lend diagnostic information when paired with clinical factors. Plain Language Summary This study explored cognitive and psychological differences between various patient groups attending an Australian First Seizure Clinic. We found that learning and memory abilities were poorer in people with epilepsy than other patient groups including those with non‐epileptic seizures, and seizure‐mimics (fainting episodes). Therefore, along with standard epilepsy investigations, memory performances could help to predict which patients have epilepsy versus a non‐epileptic condition after a first suspected seizure. Further, approximately one in three from each patient group showed high symptoms of depression and anxiety. The findings highlight the importance of evaluating cognition and mood in people with first seizures.

Objective Memory is one of the most sensitive markers of cognitive compromise in people with new‐onset epilepsy. Nonetheless, around half of these cases score within the normal range on standard memory testing. Here we explore whether memory retention at a 1‐week delay reveals otherwise undetected memory compromise in such individuals, and how it relates to subjective memory complaints and mood. Methods Using a prospective design, 38 adults with new‐onset epilepsy underwent baseline memory screening via telephone using an abbreviated Rey Auditory Verbal Learning Test (RAVLT). Psychological screening occurred via online questionnaires. One week later, without forewarning, participants completed three follow‐up memory tasks. Of particular focus, we explored longer‐term memory performances and forgetting trajectories in those individuals (n = 23) who demonstrated normal memory performances (scores >10th percentile) at baseline (30‐min delay). Outcomes were compared to 32 healthy controls, matched for age, sex, and education. Results As a group, people with epilepsy performed worse than controls on all memory measures, with 44 percent impaired at baseline testing. Of those unimpaired at baseline, the rate and volume of information loss over 1 week was significantly greater than for controls. Contextual memory performance at 1 week was also significantly poorer for people with epilepsy. At the individual level, the prevalence of impaired forgetting was not significantly different between patients and controls. Subjective memory complaints were not related to any objective tests but were strongly related to self‐reported mood and anxiety symptoms. Significance People with new‐onset epilepsy show reduced memory at short and extended intervals. For those showing normal memory at baseline, information does appear to be forgotten more quickly than in healthy controls, though the effect is not large. The findings indicate that while extended delay memory testing is not essential in all new epilepsy cases, it could provide useful information for particular individuals. Plain Language Statement Memory problems are common in people with epilepsy shortly after seizure onset, however, many individuals still show normal memory performances on standard neuropsychological testing. Through testing memory at an extended timepoint (1 week), our study found that on average, these individuals showed a slightly quicker rate of forgetting over a 1‐week period than people without a brain condition. Self‐reported memory complaints in people with new epilepsy were unrelated to their actual memory skills on testing at short and long timepoints but were rather linked to lower mood and quality of life.

The naked mole-rat (NMR; ) is a eusocial subterranean rodent with a highly unusual set of physiological traits that has attracted great interest amongst the scientific community. However, the genetic basis of most of these traits has not been elucidated. To facilitate our understanding of the molecular mechanisms underlying NMR physiology and behaviour, we generated a long-read chromosomal-level genome assembly of the NMR. This genome was subsequently annotated and incorporated into multiple whole genome alignments in the Ensembl database. Our long-read assembly identified thousands of repeats and genes that were previously unassembled in the NMR and improved the results of routinely used short-read sequencing-based experiments such as RNA-seq, snRNA-seq, and ATAC-seq. We identified several spermatozoa related gene losses that may underlie the unique degenerative sperm phenotype in NMRs ( , , , , , , , ), and an additional gene loss related to the established NK-cell absence in NMRs ( ). We resolved several tandem duplications in genes related to pathways underlying unique NMR adaptations including hypoxia tolerance, oxidative stress, and nervous system protection ( , , ). Lastly, we describe our ongoing efforts to generate a reference telomere-to-telomere assembly in the NMR which includes the resolution of complex gene families. This new reference genome should accelerate the discovery of the genetic underpinnings of NMR physiology and adaptation.