bluuebunny/crossref_metadata_2025_split huggingface dataset:
040 AD8: Likelihood to diagnose or misdiagnose
Authors: Ziso B , Larner AJ 
Published: March 2023

ObjectiveTo analyse data from two previously published individual studies and two meta-analyses of the Ascertain Dementia 8 (AD8) cognitive screening instrument to calculate the recently described ‘likelihood to be diagnosed or misdiagnosed’ (LDM) metric, the ratio of ‘number needed to misdiagnose’ (NNM = 1/Inaccuracy) to either ‘number needed to diagnose’ (NND = 1/Youden index) or ‘number needed to predict’ (NNP = 1/predictive summary index).ResultsRaw data (true positives and negatives, false positives and negatives) were extracted and LDM values for the diagnosis of dementia were calculated. For the individual studies (n=212, 67 respectively) LDM values were all <1, favouring misdiagnosis, whereas for the meta-analyses (n=3278, 3694 respectively) all LDM values were >1, favouring diagnosis. This discrepancy may be explained by the poor specificity of AD8 in the individual studies, lower than in any other study included in the meta-analyses, giving very high values for NND and NNP and lower values of NNM than in the meta-analytic data. This may relate to differences in casemix between the various studies.ConclusionLDM is an easily calculated and potentially useful test metric. LDM values derived from meta-analytic data may differ from those of individual test accuracy studies.
041 Psychosis: a rare manifestation of moyamoya disease in an adult
Authors: Gupta Srishti , Jaiswal Amit , Sarkar Srishti , Hosseini Akram 
Published: March 2023

IntroductionMoyamoya disease is a chronic progressive cerebrovascular occlusive disease with prominent basal collateral vessels which appear hazy like a puff of smoke on angiography. Neuropsychiatric disorders have been reported in 20–60% cases and the most common manifestations include depression, anxiety and other cognitive disorders. However, only a few case reports of onset of a psychotic disorder following a cerebrovascular accident. We present a rare presentation of Moyamoya disease in adulthood.CaseA 44-year-old man from Bangladesh presented with acute psychotic episodes of visual, auditory and tactile hallucinations, paranoia, somatoform disorders and non-epileptic attacks. He had a 3-year history of mental health disorders and was later admitted to the hospital with a headache and hemiparesis secondary to an intraventricular haemorrhage. The neuroimaging showed characteristic appearances of Moyamoya disease. Neurosurgical multidisciplinary meeting discussion opted for conservative management and stroke rehabilitation. Despite the improvement of his neurological deficits, he continued to show apathy, depression, psychogenic attacks with features of executive dysfunction. Due to family history of juvenile death in the family, the patient had genetic testing and was found to have the mutation in the gene Ring finger protein 213 (RNF213).ConclusionThis case highlights the awareness of neuropsychiatric manifestation of Moyamoya disease that could be related to the interruption of the striato-thalamo-cortical circuits. The susceptibility to Moyamoya disease-2 (MYMY2) may be conferred by variation in the RNF213 gene on chromosome 17q25.
045 Food for thought: an unusual case of frontotemporal dementia
Authors: O’Malley Ronan , Romanovsky Charles , Venneri Annalena , Blackburn Daniel 
Published: March 2023

CaseA 58 year old man was referred to the memory clinic with a 2 year history of deteriorating memory and altered behaviour. His wife reported that he has become obsessed with pornography and appeared apathetic and devoid of emotion. Reportedly, he has not been well for 10 years since developing a severe postural headache. He has reported intermittent incontinence, unsteadiness, fatigue and dysphagia. Though investigated extensively, no cause had been found. There was no family history of neurological or psychiatric illness.Physical examination was unremarkable. He scored 91/100 on ACE-R testing, losing points for memory and fluency.The history suggested behavioural variant frontotemporal dementia (bvFTD). Frontal deficits were confirmed on neuropsychological testing.On review, a previous MRI demonstrated signs suggestive of intrancranial hypotension with distortion of the brainstem. A diagnosis of Frontotemporal brain sagging syndrome (FBSS) was proposed. An MRI myelogram failed to demonstrate a source of CSF leakage. Despite this, the patient is currently undergoing treatment with an epidural blood patch.DiscussionIntracranial hypotension with brain sagging has been reported in the context of Frontotemporal patterns of cognitive impairment. Attempts at treating FBSS have yielded varying results. We present our experiences in the diagnosis and management of this rare, but potentially reversible cause of dementia, alongside a review of the available literature.
11.39 Association of british neurologists sustainability special interest group (ABN sustainability SIG): formation, objectives and invitation
Authors: Cheesman Ann , Blackburn Daniel , Carroll Camille , Cohen Anna , Coebergh Jan , Sokhi Dilraj , Wong Sui H , Woolmore John 
Published: March 2023

We introduce the ABN Sustainability SIG. We present our aims & objectives, and practical ways of implementing sustainability strategies in Neurology.At the 2016 ABN annual meeting, a keynote speech by Dr. David Pencheon, then director of the National Health Service Sustainability Development Unit, highlighted the relevance and importance of Sustainability in Neurology. This planted the seed for our SIG’s formation. Initial interest was gathered from an ABN newsletter notice, via word-of-mouth and informal discussions at ABN annual meetings (2017, 2018). A series of teleconferences & email discussions enabled the formation of SIG byelaws and application to the ABN council.Our aims and objectivesTo be a positive force within the ABN to highlight issues surrounding global environmental sustainability.To provide a forum to consider the impact of choices made in neurology practice on global environmental sustainability. This will cover all aspects of neurology including, but not limited to, clinical practice, service provision, technological and digital developments, meetings and ABN resources and investments.To identify areas where the choice made could impact positively on global environmental sustainability and disseminate this information to the ABN membership to inform their decisions.
056 Exploring the feasibility of automating verbal fluency tasks for cognitive assessment: data collection and analysis
Authors: O’Malley Ronan , Brook Eric , Lewis Alice , Sonksen Isobel , Mirhedari Bahman , Venneri Annalena , Christensen Heidi , Blackburn Daniel 
Published: March 2023

IntroductionFluency tests are widely employed in the assessment of cognition. We assessed the feasibility of integrating these tasks into an automated cognitive assessment tool; the ‘Digital Doctor’.Methods15 each of healthy controls (HC), Alzheimer’s disease (AD) and mild cognitive impairment (MCI) were recruited. Participants named as many words beginning with P (phonemic fluency) and as many animals (semantic fluency) as they could within one minute.ResultsManual Analysis: HC named the same number of words for both tasks compared to normative data. Patients with AD and MCI were able to complete the task and Z-scores showed significant decreases in category fluency between the AD and HC groups, -2.25.Automated Analysis: Automatic Speech recognition (ASR) was 77.9% accurate for semantic testing and 64.8% for phonemic testing, ASR overestimated the mean scores in the AD and MCI groups. Comparison of phonemic fluency in AD compared to HC yielded a significant Z score, -2.17.ConclusionsAutomated collection of fluency data is feasible and comparable to manually collected data. The over-estimation of the number of correct responses provided by the ASR will be improved with more data along with training of the Machine Learning algorithms to recognise certain, expected words.
057 Proteomic analysis of TDP-43 pathology in frontotemporal dementia
Authors: Shafei Rachelle , Toomey Christina , Foiani Martha , Mills Kevin , Lashley Tammaryn , Rohrer Jonathan 
Published: March 2023

IntroductionFrontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder presenting with behavioural or speech problems. Identification of the underlying molecular abnormality during life remains elusive, and there are no reliable biomarkers of TDP-43 proteinopathies. Proteomic analysis of the TDP-43 proteinopathies provides a unique opportunity to better understand the disease-associated pathways and determine surrogate biomarkers of TDP-43 pathology.Materials and methodsWe set out to investigate the proteomic profile of TDP-43 proteinopathies using label-free quantitative mass spectrometry. 15 cases were selected: 9 had histologically confirmed TDP-43 inclusions as their primary pathology, 3 had Alzheimer’s disease (AD) pathology (without TDP-43 disease) and 3 were healthy controls. Three regions from each case were examined: frontal lobe, temporal lobe and hippocampus. Samples were pooled according to pathological group and brain region before mass spectrometric analysis (Synapt G2-Si nanoAcquity LC system).Results21 proteins were significantly upregulated in TDP-43 proteinopathies compared with AD and 30 proteins were downregulated. The majority of proteins identified are implicated in ribosomal function, RNA transportation and mitochondrial matrix enzymatic function. Whilst, several proteins identified have already been shown to be implicated pathophysiologically in FTD/ALS the majority have not, providing a new insight into disease pathogenesis.DiscussionPreliminary proteomic analyses of brain tissue from TDP-43 proteinopathies has identified a number of differentially expressed proteins, providing a starting point for new biomarker development to distinguish different pathological subtypes of FTD during life.
11.51 Introducing atraumatic needles to the neurology ambulatory day case unit – a quality improvement project
Authors: White Daniel , Scotton Will , Shah Zohra , Nakornchai Tagore , Critchlow Tamsin , Mitchell James , Sinclair Alex , Woolmore John 
Published: March 2023

IntroductionAtraumatic needles are associated with a decreased incidence of postdural-puncture headache. They also reduce the need for additional treatment and have similar efficacy to conventional needles. The aim of this Quality Improvement Project (QIP) was to encourage the use of atraumatic needles in Neurology ambulatory care by developing a sustainable Lumbar Puncture (LP) training method.MethodsA specialised atraumatic needle training video was guru.kumar@nhs.net created for junior doctors starting in Neurology. This accompanied further teaching and opportunities to practice LPs on a simulation mannequin under supervision. Atraumatic needles were added to standard stock and supply was ensured.Two audit cycles recorded the number of LPs performed using an atraumatic needle. Patient age, body mass index, length of stay, pain experienced and any need for image guidance were also recoded. Junior doctor confidence was measured before and after training.Results81 LPs were performed in the first cycle, 83 in the second. Atraumatic needle use increased from 26% to 50% between cycles. Junior doctor confidence increased with training from 2/10 to 8/10 (p=0.02).ConclusionsDedicated induction teaching and observed simulation practice increased junior doctors’ confidence in, and frequency of, the use of atraumatic needles.
063 ‘Less contented as a person’: an update from the LGI1-QoL study
Authors: Binks Sophie , Veldsman Michele , Jacob Saiju , Maddison Paul , Coebergh Jan , Isabel Leite M , Husain Masud , Irani Sarosh R 
Published: March 2023

ObjectiveTo establish a detailed phenotype of LGI1-antibody patients long-term through a cognitive, neuropsychiatric and quality of life (QoL) battery, and relate outcomes to biochemical, clinical and genetic factors.Methods60 patients have now undergone detailed evaluation for the LGI1-QoL study, extending the previously-reported preliminary cohort. Selected assessments included domains clinically observed as impaired such as emotionality, fatigue and QoL.ResultsPatients (40 male) aged 44–92 were assessed at a median of three years post-onset (range 4 months-15 years). Compared to published thresholds in age-appropriate healthy controls, 32% were impaired on the Addenbrooke’s Cognitive Examination-Revised, 39% on the Frontal Assessment Battery, 39–52% on two different fatigue scales, 43–51% on the two different measures of the carer-reported Neuropsychiatric Inventory Questionnaire, and 40% on the Life Satisfaction Questionnaire (LSQ) – Life as a Whole. LGI1-antibody patients were significantly (p≤0.05) more impaired on five LSQ sub-domains compared to an available dataset for healthy elders.Analysis of retrospective pre- and post-illness analyses of LSQ, the EQ-5D-5L, another patient-related QoL measure, and the Modified Rankin Scale showed significant (p≤0.01) decreases in most domains. Further clinical and paraclinical correlations will be presented.ConclusionsMany LGI1-antibody patients demonstrate sustained deficits across cognitive, neuropsychiatric, carer-reported and QoL domains.
064 Seizure patterns and trajectory in patients with epilepsy secondary to NMDA vs LGI1 auto-immune encephalitis
Authors: Seddigh Arshia , Mostafa Omar Ezzat , Karim Abid , Wysota Barbara , Samarasekera Shanika , Jacob Saiju 
Published: March 2023

BackgroundThe longer-term trajectory of seizures associated with autoimmune encephalitis (AIE) is not clear. Recent data in NMDA AIE suggests seizures manifest early and are generally short lived, but in LGI1 AIE they occur later and continue longer. We characterised seizure semiology and associated prognosis in two cohorts of AIE patients.MethodsCase note review of 14 patients with a ‘definite’ diagnosis of anti-NMDAR AIE and 14 patients with LGI1 AIE showed the latter to occur in older adults. Patients were categorized as having seizures within one month of presentation or no seizures and the semiology was classified as focal or generalised onset.ResultsIn the NMDA group A, 3/7 patients (23%) had focal onset compared to 6/11 patients (55%) in the LGI1 group, with predominantly faciobrachial dystonic seizures. NMDA patients were more likely to be seizure-free at 6 months (9/12, 75%) compared to LGI1 patients (6/14, 43%). Similarly, much fewer NMDAR patients remained on ant-epileptic medications at 1 year compared to the LGI1 patients. Neither seizure semiology at presentation nor presence of inflammation on MRI correlated with longer term seizure trajectory in both groups.ConclusionSeizures are common presenting symptoms in these AIE groups. More NMDA patients were seizure-free at 6 months and did not require AEDs after 1 year compared to the LGI1 patients. LGI1 patients represented a more susceptible group of AIE patients to epilepsy.
075 Meningitis management audit at a single centre: further support for culture-independent techniques in diagnosing meningitis
Authors: Williams Simon , Hassan-Smith Ghaniah 
Published: March 2023

ObjectiveRapid identification of meningitis and initiation of rational treatment is critically important. We reviewed whether our management was consistent with recent recommendations, for patients treated August 2015-July 2018.MethodsPatients aged ≥16 coded as having meningitis/meningoencephalitis/specific meningitides (total codes=27) at QEHB over this period (n=497) were identified by informatics and data analysed using electronic records. Specific patient groups were analysed including post-neurosurgical and community-acquired meningitis.Results183 patients met the inclusion criteria, for community-acquired meningitis (n=118) or post-neurosurgery (n=65). Within the A&E subgroup (n=92), 80% received neuroimaging pre-LP despite 78% not having contraindication to LP. Median time to LP was 19hours (IQR:11.0–31.0); none performed within 1hour. Antibiotics were administered prior to LP in 72% cases. No neurosurgical patients had meningococcal/pneumococcal serum or CSF PCR sent. Serum PCR was sent in 11% of community-acquired meningitis patients - 23% were positive. CSF PCR was sent in 28% - 22% were positive. None of these cases had positive CSF culture.ConclusionsDespite BIA recommendations, time-to-LP was delayed and culture-independent techniques such as serum/CSF PCR for bacterial pathogens were under-utilised, despite out-performing CSF culture. The emergence of novel culture-independent methods, including targeted point-of-care and unbiased-metagenomic sequencing, are likely to become increasingly relevant.
079 Genetic testing in epilepsy: a new imperative for precision
Authors: Scott Nicholas , Hamilton Leigh , Symonds Joe , Heath Craig , Abbasi Hina , Goldberg Danielle , Hewitt Russell , Marshall Victoria , Zuberi Sameer , Leach John Paul 
Published: March 2023

We reviewed the results of testing in patients from the West of Scotland attending adult epilepsy clinics with MRI-negative drug-resistant epilepsies or epilepsies with co-morbid intellectual disability,Methods45 eligible (>18y) cases were referred for testing. Clinicians completed a structured electronic clinical referral proforma to aid variant interpretation. Cases were tested on a custom-designed 104-gene panel focusing on disorders for which MRI would not provide a diagnosis. Variants were classified using UK Association of Clinical Genetic Science Guidelines. Variants of uncertain significance (VUS), likely pathogenic, and definitely pathogenic variants were discussed by a multidisciplinary team. Diagnostic variants were confirmed by Sanger sequencing.ResultsAmong 45 cases, likely pathogenic and pathogenic (diagnostic) variants were identified in 8 (18%), with VUS in 10 (22%). Pathogenic variants were identified in the following genes; GAMT, CHRNB2, SCN2A, PCDH19, PRRT2, SLC2A1, SCARB2, and SBTX1B.All cases with abnormal results or VUS were offered referral to a Genetic Epilepsy Clinic for counselling. Genetic findings altered therapy in several cases: some with VUS became seizure-free with targeted changes in treatment. Determination of clinical significance was sometimes helped by further familial testing.ConclusionGenetic testing is an essential tool in the management of adult patients with drug-resistant epilepsy, particularly those with childhood onset and/or accompanying learning difficulties. Abnormalities can be expected in approximately 40% using these criteria, which can aid both management and family counselling.
090 Anti-epileptic medications: causes of adherence failure
Authors: Thaller Mark , Maxwell Maxine , Moor Carl-Christian 
Published: March 2023

IntroductionThis project’s primary aim was to assess the reasons behind the recurrent adherence failure to anti-epileptic medication (AEDs) and its effects, in the Staffordshire area. This was done via a questionnaire administered by the Royal Stoke University Hospital Clinical Epilepsy Nurse Specialists over 3 months in 2018. Analysis occurred subsequently to avoid result bias.Results57 neurology patients completed this questionnaire with 81% (47) reporting a planned change to AEDs. However, there were also unexpected medication changes (35%), wrong doses (4%) and wrong drugs (9%) dispensed. Impacts of the medication changes included side effects (55%), seizures (5%) and medication-related confusion (35%) with pharmacy cause reported in 65%. This was statistically significantly more likely to occur if the dispensing pharmacy was a chain. Pharmacy chains in our region were responsible for 77% (44) of the dispensing. Running out of medications also was common (19, 33%) with 63% of these being for non-patient reasons.ConclusionIn a population who already frequently have memory problems, there is a high non-patient related cause for poor AED compliance. We recommend informing patient of changes (including to cheaper generics) and move from a micro-regulated profit-driven system to a more flexible patient-centred approach.
092 The rare case of praxis and thinking reflex epilepsy
Authors: Zirra Alexandra , Fauzi Nor Amelia Mohd , Sidhu Meneka 
Published: March 2023

BackgroundWe report a rare case of reflex epilepsy in a 36-year-old female who was initially diagnosed with juvenile myoclonic epilepsy (JME).Case PresentationAged 15, spontaneous left sided myoclonic jerks and rare generalised tonic clonic seizures (GTCS) began. JME was diagnosed then, based on generalised spike wave discharges.As GTCS occurred once a year, she opted against treatment. Aged 26, due to seizure exacerbation, levetiracetam was commenced with complete seizure cessation.Aged 34, ascending electric-shock-like sensations from her feet with myoclonic jerks occurred exclusively whilst performing or even thinking about specific tasks such as hair brushing and complex arithmetic. No spontaneous seizures occurred. She was diagnosed with anxiety and referred to the epilepsy clinic at NHNN.Borderline hypothyroidism was diagnosed 6 months prior to symptom onset and treated with levothyroxine. There was otherwise no change in behaviour or cognitive function.On video-telemetry habitual reflex events were preceded by brief bursts of predominantly left fronto-central spike-and-slow wave complexes. Inter-ictally there were independent left central spike-wave-complexes suggesting a left fronto-central focal reflex epilepsy syndrome.Levetiracetam was optimised and lamotrigine commenced with complete cessation of seizures.ConclusionIt is important to recognise reflex epilepsy syndromes, rare entities, as they are frequently misdiagnosed.
098 The adult profile of SUDEP using the epilepsy deaths register
Authors: Craig Donald , Hanna Jane , Osland Karen , Kerr Mike , Thomas Rhys H 
Published: March 2023

IntroductionThere is no ‘standard’ sudden unexpected death in epilepsy (SUDEP). Attention can be focussed on prevention in those thought to be most at risk of SUDEP but every person with epilepsy is at risk. We sought to identify the median profile of the people with a definite SUDEP death.MethodThe voluntary Epilepsy Death Register collects information on the circumstances surrounding the death of a person with epilepsy to identify and improve risk factors that contribute to these deaths. 349 post-mortem confirmed individual entries allowed the production of a profile of the composite, median adult patient at risk of SUDEP.ResultsThe median death would be male (58.5%) aged 19–30 (48.7%) who lives in the family home (73.3%). and currently in work (45.6%). They were diagnosed more than 10 years ago (53.5%), taking antiepileptic medication (90.1%) and under the care of a specialist in epilepsy (76.2%). They were not known to forget medication (56.4%), had not had a recent AED change (58.7%), Their death was unwitnessed (81.0%) and they were found on their back (57.4%). 55.5% of families did not know that epilepsy could kill.DiscussionSUDEP can occur in otherwise well people with epilepsy. SUDEP should be discussed and safety checks embedded for everyone rather than just ‘at risk’ subgroups.