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3. The ENIGMA‐Epilepsy working group: Mapping disease from large data sets

Author

Sisodiya, Sanjay M, Whelan, Christopher D, Hatton, Sean N, Huynh, Khoa, Altmann, Andre, Ryten, Mina, Vezzani, Annamaria, Caligiuri, Maria Eugenia, Labate, Angelo, Gambardella, Antonio, Ives‐Deliperi, Victoria, Meletti, Stefano, Munsell, Brent C, Bonilha, Leonardo, Tondelli, Manuela, Rebsamen, Michael, Rummel, Christian, Vaudano, Anna Elisabetta, Wiest, Roland, Balachandra, Akshara R, Bargalló, Núria, Bartolini, Emanuele, Bernasconi, Andrea, Bernasconi, Neda, Bernhardt, Boris, Caldairou, Benoit, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Desmond, Patricia M, Domin, Martin, Duncan, John S, Focke, Niels K, Guerrini, Renzo, Hamandi, Khalid, Jackson, Graeme D, Jahanshad, Neda, Kälviäinen, Reetta, Keller, Simon S, Kochunov, Peter, Kowalczyk, Magdalena A, Kreilkamp, Barbara AK, Kwan, Patrick, Lariviere, Sara, Lenge, Matteo, Lopez, Seymour M, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita‐Sherman, Marcia E, Pardoe, Heath R, Pariente, Jose C, Raviteja, Kotikalapudi, Rocha, Cristiane S, Rodríguez‐Cruces, Raúl, Seeck, Margitta, Semmelroch, Mira KHG, Sinclair, Benjamin, Soltanian‐Zadeh, Hamid, Stein, Dan J, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Thomopoulos, Sophia I, Velakoulis, Dennis, Vivash, Lucy, Weber, Bernd, Yasuda, Clarissa Lin, Zhang, Junsong, Thompson, Paul M, McDonald, Carrie R, Abela, Eugenio, Absil, Julie, Adams, Sophia, Alhusaini, Saud, Alvim, Marina, Balestrini, Simona, Bender, Benjamin, Bergo, Felipe, Bernardes, Tauana, Calvo, Anna, Carreno, Mar, Cherubini, Andrea, David, Philippe, Davoodi‐Bojd, Esmaeil, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin, França, Wendy Caroline, Franceschet, Leticia, Hibar, Derrek P, Ishikawa, Akari, Kaestner, Erik, Langner, Soenke, Liu, Min, Mirandola, Laura, Naylor, Jillian, and Nazem‐Zadeh, Mohammad‐reza

Subjects
Brain Disorders, Biomedical Imaging, Neurosciences, Epilepsy, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Neurological, covariance, deep learning, DTI, event-based modeling, gene expression, genetics, imaging, MRI, quantitative, rsfMRI, ENIGMA Consortium Epilepsy Working Group, Cognitive Sciences, Experimental Psychology
Abstract

Epilepsy is a common and serious neurological disorder, with many different constituent conditions characterized by their electro clinical, imaging, and genetic features. MRI has been fundamental in advancing our understanding of brain processes in the epilepsies. Smaller-scale studies have identified many interesting imaging phenomena, with implications both for understanding pathophysiology and improving clinical care. Through the infrastructure and concepts now well-established by the ENIGMA Consortium, ENIGMA-Epilepsy was established to strengthen epilepsy neuroscience by greatly increasing sample sizes, leveraging ideas and methods established in other ENIGMA projects, and generating a body of collaborating scientists and clinicians to drive forward robust research. Here we review published, current, and future projects, that include structural MRI, diffusion tensor imaging (DTI), and resting state functional MRI (rsfMRI), and that employ advanced methods including structural covariance, and event-based modeling analysis. We explore age of onset- and duration-related features, as well as phenomena-specific work focusing on particular epilepsy syndromes or phenotypes, multimodal analyses focused on understanding the biology of disease progression, and deep learning approaches. We encourage groups who may be interested in participating to make contact to further grow and develop ENIGMA-Epilepsy.

Published
2022

5. Neuropsychological function in psychosis of epilepsy

Author

Allebone, James, Kanaan, Richard A., Rayner, Genevieve, Maller, Jerome, O’Brien, Terence J., Mullen, Saul A., Cook, Mark, Adams, Sophia J., Vogrin, Simon, Vaughan, David N., Kwan, Patrick, Berkovic, Samuel F., D’Souza, Wendyl J., Jackson, Graeme, Velakoulis, Dennis, and Wilson, Sarah J.

Published
2023
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9. White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

Author

Hatton, Sean N, Huynh, Khoa H, Bonilha, Leonardo, Abela, Eugenio, Alhusaini, Saud, Altmann, Andre, Alvim, Marina KM, Balachandra, Akshara R, Bartolini, Emanuele, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris, Bargallo, Núria, Caldairou, Benoit, Caligiuri, Maria E, Carr, Sarah JA, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Davoodi-bojd, Esmaeil, Desmond, Patricia M, Devinsky, Orrin, Doherty, Colin P, Domin, Martin, Duncan, John S, Focke, Niels K, Foley, Sonya F, Gambardella, Antonio, Gleichgerrcht, Ezequiel, Guerrini, Renzo, Hamandi, Khalid, Ishikawa, Akari, Keller, Simon S, Kochunov, Peter V, Kotikalapudi, Raviteja, Kreilkamp, Barbara AK, Kwan, Patrick, Labate, Angelo, Langner, Soenke, Lenge, Matteo, Liu, Min, Lui, Elaine, Martin, Pascal, Mascalchi, Mario, Moreira, José CV, Morita-Sherman, Marcia E, O’Brien, Terence J, Pardoe, Heath R, Pariente, José C, Ribeiro, Letícia F, Richardson, Mark P, Rocha, Cristiane S, Rodríguez-Cruces, Raúl, Rosenow, Felix, Severino, Mariasavina, Sinclair, Benjamin, Soltanian-Zadeh, Hamid, Striano, Pasquale, Taylor, Peter N, Thomas, Rhys H, Tortora, Domenico, Velakoulis, Dennis, Vezzani, Annamaria, Vivash, Lucy, von Podewils, Felix, Vos, Sjoerd B, Weber, Bernd, Winston, Gavin P, Yasuda, Clarissa L, Zhu, Alyssa H, Thompson, Paul M, Whelan, Christopher D, Jahanshad, Neda, Sisodiya, Sanjay M, and McDonald, Carrie R

Subjects
Genetics, Neurodegenerative, Epilepsy, Clinical Research, Brain Disorders, Neurosciences, Biomedical Imaging, Aetiology, 2.1 Biological and endogenous factors, Neurological, Adult, Brain, Diffusion Magnetic Resonance Imaging, Epileptic Syndromes, Female, Humans, Image Interpretation, Computer-Assisted, Male, Middle Aged, White Matter, epilepsy, diffusion tensor imaging, multisite analysis, white matter, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitative brain imaging consortium, aggregating data to investigate patterns of neuroimaging abnormalities in common epilepsy syndromes, including temporal lobe epilepsy, extratemporal epilepsy, and genetic generalized epilepsy. Our goal was to rank the most robust white matter microstructural differences across and within syndromes in a multicentre sample of adult epilepsy patients. Diffusion-weighted MRI data were analysed from 1069 healthy controls and 1249 patients: temporal lobe epilepsy with hippocampal sclerosis (n = 599), temporal lobe epilepsy with normal MRI (n = 275), genetic generalized epilepsy (n = 182) and non-lesional extratemporal epilepsy (n = 193). A harmonized protocol using tract-based spatial statistics was used to derive skeletonized maps of fractional anisotropy and mean diffusivity for each participant, and fibre tracts were segmented using a diffusion MRI atlas. Data were harmonized to correct for scanner-specific variations in diffusion measures using a batch-effect correction tool (ComBat). Analyses of covariance, adjusting for age and sex, examined differences between each epilepsy syndrome and controls for each white matter tract (Bonferroni corrected at P

Published
2020

10. Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders

Author

Ducharme, Simon, Dols, Annemiek, Laforce, Robert, Devenney, Emma, Kumfor, Fiona, van den Stock, Jan, Dallaire-Théroux, Caroline, Seelaar, Harro, Gossink, Flora, Vijverberg, Everard, Huey, Edward, Vandenbulcke, Mathieu, Masellis, Mario, Trieu, Calvin, Onyike, Chiadi, Caramelli, Paulo, de Souza, Leonardo Cruz, Santillo, Alexander, Waldö, Maria Landqvist, Landin-Romero, Ramon, Piguet, Olivier, Kelso, Wendy, Eratne, Dhamidhu, Velakoulis, Dennis, Ikeda, Manabu, Perry, David, Pressman, Peter, Boeve, Bradley, Vandenberghe, Rik, Mendez, Mario, Azuar, Carole, Levy, Richard, Le Ber, Isabelle, Baez, Sandra, Lerner, Alan, Ellajosyula, Ratnavalli, Pasquier, Florence, Galimberti, Daniela, Scarpini, Elio, van Swieten, John, Hornberger, Michael, Rosen, Howard, Hodges, John, Diehl-Schmid, Janine, and Pijnenburg, Yolande

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Neurosciences, Dementia, Behavioral and Social Science, Frontotemporal Dementia (FTD), Acquired Cognitive Impairment, Mental Health, Brain Disorders, Prevention, Neurodegenerative, Clinical Research, 4.2 Evaluation of markers and technologies, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Mental health, Neurological, Delayed Diagnosis, Diagnosis, Differential, Female, Fluorodeoxyglucose F18, Frontotemporal Dementia, Humans, Magnetic Resonance Imaging, Male, Mental Disorders, Neuroimaging, Neurologic Examination, Neuropsychological Tests, Positron-Emission Tomography, frontotemporal dementia, psychiatry, differential diagnosis, guidelines, biomarkers, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences
Abstract

The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-onset dementia. The diagnosis of bvFTD remains challenging because of the limited accuracy of neuroimaging in the early disease stages and the absence of molecular biomarkers, and therefore relies predominantly on clinical assessment. BvFTD shows significant symptomatic overlap with non-degenerative primary psychiatric disorders including major depressive disorder, bipolar disorder, schizophrenia, obsessive-compulsive disorder, autism spectrum disorders and even personality disorders. To date, ∼50% of patients with bvFTD receive a prior psychiatric diagnosis, and average diagnostic delay is up to 5-6 years from symptom onset. It is also not uncommon for patients with primary psychiatric disorders to be wrongly diagnosed with bvFTD. The Neuropsychiatric International Consortium for Frontotemporal Dementia was recently established to determine the current best clinical practice and set up an international collaboration to share a common dataset for future research. The goal of the present paper was to review the existing literature on the diagnosis of bvFTD and its differential diagnosis with primary psychiatric disorders to provide consensus recommendations on the clinical assessment. A systematic literature search with a narrative review was performed to determine all bvFTD-related diagnostic evidence for the following topics: bvFTD history taking, psychiatric assessment, clinical scales, physical and neurological examination, bedside cognitive tests, neuropsychological assessment, social cognition, structural neuroimaging, functional neuroimaging, CSF and genetic testing. For each topic, responsible team members proposed a set of minimal requirements, optimal clinical recommendations, and tools requiring further research or those that should be developed. Recommendations were listed if they reached a ≥ 85% expert consensus based on an online survey among all consortium participants. New recommendations include performing at least one formal social cognition test in the standard neuropsychological battery for bvFTD. We emphasize the importance of 3D-T1 brain MRI with a standardized review protocol including validated visual atrophy rating scales, and to consider volumetric analyses if available. We clarify the role of 18F-fluorodeoxyglucose PET for the exclusion of bvFTD when normal, whereas non-specific regional metabolism abnormalities should not be over-interpreted in the case of a psychiatric differential diagnosis. We highlight the potential role of serum or CSF neurofilament light chain to differentiate bvFTD from primary psychiatric disorders. Finally, based on the increasing literature and clinical experience, the consortium determined that screening for C9orf72 mutation should be performed in all possible/probable bvFTD cases or suspected cases with strong psychiatric features.

Published
2020

19. In Vivo 7-Tesla MRI Investigation of Brain Iron and Its Metabolic Correlates in Chronic Schizophrenia

Author

Ravanfar, Parsa, Syeda, Warda T., Jayaram, Mahesh, Rushmore, R. Jarrett, Moffat, Bradford, Lin, Alexander P., Lyall, Amanda E., Merritt, Antonia H., Yaghmaie, Negin, Laskaris, Liliana, Luza, Sandra, Opazo, Carlos M., Liberg, Benny, Chakravarty, M. Mallar, Devenyi, Gabriel A., Desmond, Patricia, Cropley, Vanessa L., Makris, Nikos, Shenton, Martha E., Bush, Ashley I., Velakoulis, Dennis, and Pantelis, Christos

Published
2022
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20. Cortico-cognition coupling in treatment resistant schizophrenia

Author

Syeda, Warda T., Wannan, Cassandra M.J., Merritt, Antonia H., Raghava, Jayachandra M., Jayaram, Mahesh, Velakoulis, Dennis, Kristensen, Tina D., Soldatos, Rigas Filippos, Tonissen, Shane, Thomas, Naveen, Ambrosen, Karen S., Sørensen, Mikkel E., Fagerlund, Birgitte, Rostrup, Egill, Glenthøj, Birte Y., Skafidas, Efstratios, Bousman, Chad A., Johnston, Leigh A., Everall, Ian, Ebdrup, Bjørn H., and Pantelis, Christos

Published
2022
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21. Referral reasons to a Victorian mental health triage service for individuals living with young-onset dementia.

Author

Loi, Samantha M. and Velakoulis, Dennis

Subjects
*HOME care services, *MENTAL health services, *BEHAVIOR modification, *SUICIDAL ideation, *PARANOIA, *RETROSPECTIVE studies, *AGITATION (Psychology), *ANXIETY, *DESCRIPTIVE statistics, *CHI-squared test, *AGE factors in disease, *AGGRESSION (Psychology), *DEMENTIA, *DATA analysis software, *MEDICAL referrals, *MEDICAL triage, *MENTAL depression, *RESIDENTIAL care
Abstract

Objectives: Mental health triage services are the first contact for people wanting support for their mental health and provide access to public mental health services in Victoria, Australia. People living with young-onset dementia and their families may contact triage services seeking assistance for behaviour changes and pathways to care as there are few alternative services available. Methods: The authors reviewed the minimum triage dataset from one of the largest mental health services in Victoria, Australia from 2018 to 2021 investigating reasons for referral for people with young-onset dementia. Results: Of the 1766 referrals for 'dementia', 145 were for young-onset dementia. Of these, 69% were referred for behaviour changes. About half of the referrals for behaviour changes were triaged as 'advice only'. One-third of referrals were from general practitioners. Conclusions: The availability of dementia-specific support services that could provide advice on dementia as well as advice for behaviour changes related to the disease could potentially ease the burden of phone calls received by mental health triage services. What is known about the topic? Young-onset dementia refers to a dementia with onset at less than 65 years of age. People with young-onset dementia may contact mental health services for support but the reasons for contact are unknown. What does this paper add? The reasons for contacting one Victorian mental health service included behaviour changes such as agitation or aggression and psychotic symptoms (74%) and general advice, including about dementia pathways (14%). General practitioners made up one-third of referral sources. What are the implications for practitioners? Victorian mental health services are generally overloaded and complex. There is a need to promote alternative dementia support organisations in order to provide an alternative contact for people affected by young-onset dementia. [ABSTRACT FROM AUTHOR]

Published
2024
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22. Younger people with dementia registered to public mental health services in Victoria, Australia.

Author

Loi, Samantha M., Eratne, Dhamidhu, and Velakoulis, Dennis

Subjects
PUBLIC hospitals, HEALTH services accessibility, MENTAL health services, CENSUS, SEX distribution, DESCRIPTIVE statistics, CHI-squared test, AGE factors in disease, DEMENTIA, COMPARATIVE studies, MEDICAL triage, NOSOLOGY
Abstract

Objectives: Individuals living with young-onset dementia fall through the gaps of adult and geriatric services. Given that non-cognitive symptoms of dementia in younger people are often psychiatric and behavioural in nature, these people may contact mental health services. There is sparse information investigating the frequency of people with young-onset dementia who contact mental health triage in Victoria. Methods: Triage data were obtained from the Victorian Agency for Health Information. The data contained demographics for people registered with Victorian mental health services. Consumers who had an International Classification for Diseases code for dementia and were aged less than 65 years were identified as people with young-onset dementia. Using information of the frequency of people with young-onset dementia who were registered with each area-based mental health service, population census statistics were used to make estimates of the frequency of young-onset dementia. Results: Of the 6172 people who had a dementia diagnosis, 1020 of them were aged less than 65 years and had young-onset dementia. There were proportionally more men who had young-onset dementia compared to women. There were more people with young-onset dementia registered to rural mental health services compared to metropolitan services. Conclusion: Findings provide important information for service planning in Victoria. Recommendations include upskilling and education for the assessment of dementia for those clinicians who work in mental health services, particularly in rural regions. What is known about the topic? Young-onset dementia refers to a dementia with onset at an age less than 65 years. Accessing age-appropriate services for these people is difficult as they fall through the gaps of adult and aged services due to their age. What does this paper add? Due to the behavioural and psychiatric manifestations related to young-onset dementia, data is provided about mental health service involvement for these people. What are the implications for practitioners? There is a need to upskill mental health clinicians, especially in rural areas, as younger people with dementia are accessing these services. [ABSTRACT FROM AUTHOR]

Published
2024
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23. Investigating Equivalence of In-Person and Telehealth-Based Neuropsychological Assessment Performance for Individuals Being Investigated for Younger Onset Dementia.

Author

Brown, Aimee D, Kelso, Wendy, Eratne, Dhamidhu, Loi, Samantha M, Farrand, Sarah, Summerell, Patrick, Neath, Joanna, Walterfang, Mark, Velakoulis, Dennis, and Stolwyk, Renerus J

Subjects
NEUROPSYCHOLOGICAL tests, WECHSLER Adult Intelligence Scale, DEMENTIA, INTRACLASS correlation
Abstract

Objective Given the rapid shift to in-home teleneuropsychology models, more research is needed to investigate the equivalence of non-facilitator models of teleneuropsychology delivery for people with younger onset dementia (YOD). This study aimed to determine whether equivalent performances were observed on neuropsychological measures administered in-person and via teleneuropsychology in a sample of people being investigated for YOD. Method Using a randomized counterbalanced cross-over design, 43 participants (M age = 60.26, SD age = 7.19) with a possible or probable YOD diagnosis completed 14 neuropsychological tests in-person and via teleneuropsychology, with a 2-week interval. Repeated measures t -tests, intraclass correlation coefficients (ICC), and Bland Altman analyses were used to investigate equivalence across the administration conditions. Results No statistical differences were found between in-person and teleneuropsychology conditions, except for the Hospital Anxiety and Depression Scale Anxiety subtest. Small to negligible effect sizes were observed (ranging from.01 to.20). ICC estimates ranged from.71 to.97 across the neuropsychological measures. Bland Altman analyses revealed that the Wechsler Adult Intelligence Scale—Fourth Edition Block Design subtest had slightly better overall performance in the in-person condition and participants reported higher levels of anxiety symptoms during the teleneuropsychology condition; however, average anxiety symptoms remained within the clinically normal range. Participants reported a high level of acceptability for teleneuropsychology assessments. Conclusions These results suggest that performances are comparable between in-person and teleneuropsychology assessment modalities. Our findings support teleneuropsychology as a feasible alternative to in-person neuropsychological services for people under investigation of YOD, who face significant barriers in accessing timely diagnoses and treatment options. [ABSTRACT FROM AUTHOR]

Published
2024
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29. Neurofilament light and glial fibrillary acidic protein in mood and anxiety disorders: A systematic review and meta-analysis

Author

Kang, Matthew JY, primary, Grewal, Jasleen, additional, Eratne, Dhamidhu, additional, Malpas, Charles, additional, Chiu, Wei-Hsuan, additional, Katisko, Kasper, additional, Solje, Eino, additional, Santillo, Alexander F, additional, Mitchell, Philip B., additional, Hopwood, Malcolm, additional, and Velakoulis, Dennis, additional

Published
2024
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30. Alzheimer's disease biomarker utilization at first referral enhances differential diagnostic precision with simultaneous exclusion of Creutzfeldt‐Jakob disease

Author

Wang, Zitianyu, primary, Lewis, Victoria, additional, Stehmann, Christiane, additional, Varghese, Shiji, additional, Senesi, Matteo, additional, McGlade, Amelia, additional, Ellett, Laura J., additional, Doecke, James D., additional, Eratne, Dhamidhu, additional, Velakoulis, Dennis, additional, Masters, Colin L., additional, Collins, Steven J., additional, and Li, Qiao‐Xin, additional

Published
2024
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34. Adverse events related to antiepileptic drugs

Author

Dang, Yew Li, Foster, Emma, Lloyd, Michael, Rayner, Genevieve, Rychkova, Maria, Ali, Rashida, Carney, Patrick W., Velakoulis, Dennis, Winton-Brown, Toby T., Kalincik, Tomas, Perucca, Piero, O'Brien, Terence J., Kwan, Patrick, and Malpas, Charles B.

Published
2021
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36. The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

Author

Eratne, Dhamidhu, Schneider, Amy, Lynch, Ella, Martyn, Melissa, Velakoulis, Dennis, Fahey, Michael, Kwan, Patrick, Leventer, Richard, Rafehi, Haloom, Chong, Belinda, Stark, Zornitza, Lunke, Sebastian, Phelan, Dean G., O'Keefe, Melanie, Siemering, Kirby, West, Kirsty, Sexton, Adrienne, Jarmolowicz, Anna, Taylor, Jessica A., Schultz, Joshua, Purvis, Rebecca, Uebergang, Eloise, Chalinor, Heather, Creighton, Belinda, Gelfand, Nikki, Saks, Tamar, Prawer, Yael, Smagarinsky, Yana, Pan, Tianxin, Goranitis, Ilias, Ademi, Zanfina, Gaff, Clara, Huq, Aamira, Walsh, Maie, James, Paul A., Krzesinski, Emma I., Wallis, Mathew, Stutterd, Chloe A., Bahlo, Melanie, Delatycki, Martin B., and Berkovic, Samuel F.

Published
2021
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39. Enlarged hippocampal fissure in psychosis of epilepsy

Author

Allebone, James, Kanaan, Richard A., Maller, Jerome J., O'Brien, Terrence, Mullen, Saul, Cook, Mark, Adams, Sophie, Vogrin, Simon, Vaughan, David, Connelly, Alan, Kwan, Patrick, Berkovic, Samuel F., D'Souza, Wendyl, Jackson, Graeme, Velakoulis, Dennis, and Wilson, Sarah J.

Published
2020
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49. Plasma neurofilament light protein provides evidence of accelerated brain ageing in treatment-resistant schizophrenia

Author

Wannan, Cassandra M J, primary, Eratne, Dhamidhu, additional, Santillo, Alexander, additional, Malpas, Charles, additional, Cilia, Brandon, additional, Dean, Olivia M, additional, Walker, Adam, additional, Berk, Michael, additional, Bousman, Chad, additional, Everall, Ian, additional, Velakoulis, Dennis, additional, and Pantelis, Christos, additional

Published
2023
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