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1. Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK

Author

Andreou, Penny, Androulaki-Korakaki, Dynameni, Blakeley, Claire, Bridges, Gary, Campbell, Iain, Davenport, Brittany, Dee, Annily, Drewry, Nicola, Flood, John, Fox, Annemieke, Girling, Melissa, Glew, Ruth, Hartley, Nick, Hocking, Sian, Howell, Mark, Keetharuth, Anju, Makin, Selina, Marsh, Jessica, Mayberry, Emily, McDonald, Alexa, McPartland, Roy, Meldrum, Steven, Mobley, Amanda, Murphy, Donnchadh, O'Brien, Marie Claire, Oliver, Mark, Patel, Darshna, Phipps, Emma, Read, Jessica, Roberts, Rhys, Rooney, Natasha, Smith, Carla, Statham, Jo, Thompson, Cara, Varma, Priya, Walker, Anne Marie, Waterhouse, Simon, Gould, Rebecca L, McDermott, Christopher J, Thompson, Benjamin J, Rawlinson, Charlotte V, Bursnall, Matt, Bradburn, Mike, Kumar, Pavithra, Turton, Emily J, White, David A, Serfaty, Marc A, Graham, Christopher D, McCracken, Lance M, Goldstein, Laura H, Al-Chalabi, Ammar, Orrell, Richard W, Williams, Tim, Noad, Rupert, Baker, Idris, Faull, Christina, Lambert, Thomas, Chhetri, Suresh K, Ealing, John, Hanratty, Anthony, Radunovic, Aleksandar, Gunawardana, Nushan, Meadows, Gail, Gorrie, George H, Young, Tracey, Lawrence, Vanessa, Cooper, Cindy, Shaw, Pamela J, and Howard, Robert J

Published
2024
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2. Protocol for diaphragm pacing in patients with respiratory muscle weakness due to motor neurone disease (DiPALS): a randomised controlled trial

Author

McDermott Christopher J, Maguire Chin, Cooper Cindy L, Ackroyd Roger, Baird Wendy O, Baudouin Simon, Bentley Andrew, Bianchi Stephen, Bourke Stephen, Bradburn Mike J, Dixon Simon, Ealing John, Galloway Simon, Karat Dayalan, Maynard Nick, Morrison Karen, Mustfa Naveed, Stradling John, Talbot Kevin, Williams Tim, and Shaw Pamela J

Subjects
Neurology. Diseases of the nervous system, RC346-429
Abstract

Abstract Background Motor neurone disease (MND) is a devastating illness which leads to muscle weakness and death, usually within 2-3 years of symptom onset. Respiratory insufficiency is a common cause of morbidity, particularly in later stages of MND and respiratory complications are the leading cause of mortality in MND patients. Non Invasive Ventilation (NIV) is the current standard therapy to manage respiratory insufficiency. Some MND patients however do not tolerate NIV due to a number of issues including mask interface problems and claustrophobia. In those that do tolerate NIV, eventually respiratory muscle weakness will progress to a point at which intermittent/overnight NIV is ineffective. The NeuRx RA/4 Diaphragm Pacing System was originally developed for patients with respiratory insufficiency and diaphragm paralysis secondary to stable high spinal cord injuries. The DiPALS study will assess the effect of diaphragm pacing (DP) when used to treat patients with MND and respiratory insufficiency. Method/Design 108 patients will be recruited to the study at 5 sites in the UK. Patients will be randomised to either receive NIV (current standard care) or receive DP in addition to NIV. Study participants will be required to complete outcome measures at 5 follow up time points (2, 3, 6, 9 and 12 months) plus an additional surgery and 1 week post operative visit for those in the DP group. 12 patients (and their carers) from the DP group will also be asked to complete 2 qualitative interviews. Discussion The primary objective of this trial will be to evaluate the effect of Diaphragm Pacing (DP) on survival over the study duration in patients with MND with respiratory muscle weakness. The project is funded by the National Institute for Health Research, Health Technology Assessment (HTA) Programme (project number 09/55/33) and the Motor Neurone Disease Association and the Henry Smith Charity. Trial Registration: Current controlled trials ISRCTN53817913. The views and opinions expressed therein are those of the authors and do not necessarily reflect those of the HTA programme, NIHR, NHS or the Department of Health.

Published
2012
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3. Development of a patient reported outcome measure for fatigue in motor neurone disease: the Neurological Fatigue Index (NFI-MND)

Author

Gibbons Chris J, Mills Roger J, Thornton Everard W, Ealing John, Mitchell John D, Shaw Pamela J, Talbot Kevin, Tennant A, and Young Carolyn A

Subjects
Computer applications to medicine. Medical informatics, R858-859.7
Abstract

Abstract Background The objective of this research was to develop a disease-specific measure for fatigue in patients with motor neurone disease (MND) by generating data that would fit the Rasch measurement model. Fatigue was defined as reversible motor weakness and whole-body tiredness that was predominantly brought on by muscular exertion and was partially relieved by rest. Methods Qualitative interviews were undertaken to confirm the suitability of a previously identified set of 52 neurological fatigue items as relevant to patients with MND. Patients were recruited from five U.K. MND clinics. Questionnaires were administered during clinic or by post. A sub-sample of patients completed the questionnaire again after 2-4 weeks to assess test-retest validity. Exploratory factor analyses and Rasch analysis were conducted on the item set. Results Qualitative interviews with ten MND patients confirmed the suitability of 52 previously identified neurological fatigue items as relevant to patients with MND. 298 patients consented to completing the initial questionnaire including this item set, with an additional 78 patients completing the questionnaire a second time after 4-6 weeks. Exploratory Factor Analysis identified five potential subscales that could be conceptualised as representing: 'Energy', 'Reversible muscular weakness' (shortened to 'Weakness'), 'Concentration', 'Effects of heat' and 'Rest'. Of the original five factors, two factors 'Energy' and 'Weakness' met the expectations of the Rasch model. A higher order fatigue summary scale, consisting of items from the 'Energy' and 'Weakness' subscales, was found to fit the Rasch model and have acceptable unidimensionality. The two scales and the higher order summary scale were shown to fulfil model expectations, including assumptions of unidimensionality, local independency and an absence of differential item functioning. Conclusions The Neurological Fatigue Index for MND (NFI-MND) is a simple, easy-to-administer fatigue scale. It consists of an 8-item fatigue summary scale in addition to separate scales for measuring fatigue experienced as reversible muscular weakness and fatigue expressed as feelings of low energy and whole body tiredness. The underlying two factor structure supports the patient concept of fatigue derived from qualitative interviews in this population. All three scales were shown to be reliable and capable of interval level measurement.

Published
2011
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4. Rasch analysis of the hospital anxiety and depression scale (hads) for use in motor neurone disease

Author

Shaw Pamela J, Mitchell John D, Ealing John, Thornton Everard W, Mills Roger J, Gibbons Chris J, Talbot Kevin, Tennant Alan, and Young Carolyn A

Subjects
Computer applications to medicine. Medical informatics, R858-859.7
Abstract

Abstract Background The Hospital Anxiety and Depression Scale (HADS) is commonly used to assess symptoms of anxiety and depression in motor neurone disease (MND). The measure has never been specifically validated for use within this population, despite questions raised about the scale's validity. This study seeks to analyse the construct validity of the HADS in MND by fitting its data to the Rasch model. Methods The scale was administered to 298 patients with MND. Scale assessment included model fit, differential item functioning (DIF), unidimensionality, local dependency and category threshold analysis. Results Rasch analyses were carried out on the HADS total score as well as depression and anxiety subscales (HADS-T, D and A respectively). After removing one item from both of the seven item scales, it was possible to produce modified HADS-A and HADS-D scales which fit the Rasch model. An 11-item higher-order HADS-T total scale was found to fit the Rasch model following the removal of one further item. Conclusion Our results suggest that a modified HADS-A and HADS-D are unidimensional, free of DIF and have good fit to the Rasch model in this population. As such they are suitable for use in MND clinics or research. The use of the modified HADS-T as a higher-order measure of psychological distress was supported by our data. Revised cut-off points are given for the modified HADS-A and HADS-D subscales.

Published
2011
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5. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Author

Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D., Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A., Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, and Upadhyaya, Meena

Published
2022
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6. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Author

Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke JFA, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, ITALSGEN Consortium, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Genomic Translation for ALS Care (GTAC) Consortium, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Goldstein, David B, ALS Sequencing Consortium, Gitler, Aaron D, Harris, Tim, Myers, Richard M, NYGC ALS Consortium, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Answer ALS Foundation, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, SLAGEN Consortium, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, French ALS Consortium, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, and Orrell, Richard W

Subjects
ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, Humans, Amyotrophic Lateral Sclerosis, Cohort Studies, Amino Acid Sequence, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Young Adult, Loss of Function Mutation, Kinesins, ALS, GWAS, KIF5A, WES, WGS, axonal transport, cargo, Brain Disorders, Genetics, Human Genome, Rare Diseases, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

Published
2018

7. Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND): a multicentre, parallel, randomised controlled trial in the UK

Author

Gould, Rebecca L, primary, McDermott, Christopher J, additional, Thompson, Benjamin J, additional, Rawlinson, Charlotte V, additional, Bursnall, Matt, additional, Bradburn, Mike, additional, Kumar, Pavithra, additional, Turton, Emily J, additional, White, David A, additional, Serfaty, Marc A, additional, Graham, Christopher D, additional, McCracken, Lance M, additional, Goldstein, Laura H, additional, Al-Chalabi, Ammar, additional, Orrell, Richard W, additional, Williams, Tim, additional, Noad, Rupert, additional, Baker, Idris, additional, Faull, Christina, additional, Lambert, Thomas, additional, Chhetri, Suresh K, additional, Ealing, John, additional, Hanratty, Anthony, additional, Radunovic, Aleksandar, additional, Gunawardana, Nushan, additional, Meadows, Gail, additional, Gorrie, George H, additional, Young, Tracey, additional, Lawrence, Vanessa, additional, Cooper, Cindy, additional, Shaw, Pamela J, additional, Howard, Robert J, additional, Andreou, Penny, additional, Androulaki-Korakaki, Dynameni, additional, Blakeley, Claire, additional, Bridges, Gary, additional, Campbell, Iain, additional, Davenport, Brittany, additional, Dee, Annily, additional, Drewry, Nicola, additional, Flood, John, additional, Fox, Annemieke, additional, Girling, Melissa, additional, Glew, Ruth, additional, Hartley, Nick, additional, Hocking, Sian, additional, Howell, Mark, additional, Keetharuth, Anju, additional, Makin, Selina, additional, Marsh, Jessica, additional, Mayberry, Emily, additional, McDonald, Alexa, additional, McPartland, Roy, additional, Meldrum, Steven, additional, Mobley, Amanda, additional, Murphy, Donnchadh, additional, O'Brien, Marie Claire, additional, Oliver, Mark, additional, Patel, Darshna, additional, Phipps, Emma, additional, Read, Jessica, additional, Roberts, Rhys, additional, Rooney, Natasha, additional, Smith, Carla, additional, Statham, Jo, additional, Thompson, Cara, additional, Varma, Priya, additional, Walker, Anne Marie, additional, and Waterhouse, Simon, additional

Published
2024
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8. Acceptance and Commitment Therapy plus usual care for improving quality of life in people with motor neuron disease (COMMEND) : a multicentre, parallel, randomised controlled trial in the UK

Author

Gould, Rebecca L., McDermott, Christopher J., Thompson, Benjamin J., Rawlinson, Charlotte, V, Bursnall, Matt, Bradburn, Mike, Kumar, Pavithra, Turton, Emily J., White, David A., Serfaty, Marc A., Graham, Christopher, McCracken, Lance, Goldstein, Laura H., Al-Chalabi, Ammar, Orrell, Richard W., Williams, Tim, Noad, Rupert, Baker, Idris, Faull, Christina, Lambert, Thomas, Chhetri, Suresh K., Ealing, John, Hanratty, Anthony, Radunovic, Aleksandar, Gunawardana, Nushan, Meadows, Gail, Gorrie, George H., Young, Tracey, Lawrence, Vanessa, Cooper, Cindy, Shaw, Pamela J., Howard, Robert J., Gould, Rebecca L., McDermott, Christopher J., Thompson, Benjamin J., Rawlinson, Charlotte, V, Bursnall, Matt, Bradburn, Mike, Kumar, Pavithra, Turton, Emily J., White, David A., Serfaty, Marc A., Graham, Christopher, McCracken, Lance, Goldstein, Laura H., Al-Chalabi, Ammar, Orrell, Richard W., Williams, Tim, Noad, Rupert, Baker, Idris, Faull, Christina, Lambert, Thomas, Chhetri, Suresh K., Ealing, John, Hanratty, Anthony, Radunovic, Aleksandar, Gunawardana, Nushan, Meadows, Gail, Gorrie, George H., Young, Tracey, Lawrence, Vanessa, Cooper, Cindy, Shaw, Pamela J., and Howard, Robert J.

Abstract

Background: Motor neuron disease is a progressive, fatal neurodegenerative disease for which there is no cure. Acceptance and Commitment Therapy (ACT) is a psychological therapy incorporating acceptance, mindfulness, and behaviour change techniques. We aimed to evaluate the effectiveness of ACT plus usual care, compared with usual care alone, for improving quality of life in people with motor neuron disease. Methods: We conducted a parallel, multicentre, two -arm randomised controlled trial in 16 UK motor neuron disease care centres or clinics. Eligible participants were aged 18 years or older with a diagnosis of definite or laboratory -supported probable, clinically probable, or possible familial or sporadic amyotrophic lateral sclerosis; progressive muscular atrophy; or primary lateral sclerosis; which met the World Federation of Neurology's El Escorial diagnostic criteria. Participants were randomly assigned (1:1) to receive up to eight sessions of ACT adapted for people with motor neuron disease plus usual care or usual care alone by a web -based system, stratified by site. Participants were followed up at 6 months and 9 months post -randomisation. Outcome assessors and trial statisticians were masked to treatment allocation. The primary outcome was quality of life using the McGill Quality of Life Questionnaire -Revised (MQOL-R) at 6 months post -randomisation. Primary analyses were multi -level modelling and modified intention to treat among participants with available data. This trial was pre -registered with the ISRCTN Registry (ISRCTN12655391). Findings: Between Sept 18, 2019, and Aug 31, 2022, 435 people with motor neuron disease were approached for the study, of whom 206 (47%) were assessed for eligibility, and 191 were recruited. 97 (51%) participants were randomly assigned to ACT plus usual care and 94 (49%) were assigned to usual care alone. 80 (42%) of 191 participants were female and 111 (58%) were male, and the mean age was 63⋅1 years (SD 11⋅0). 155

Published
2024
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12. Long-term effect of thymectomy plus prednisone versus prednisone alone in patients with non-thymomatous myasthenia gravis: 2-year extension of the MGTX randomised trial

Author

Cutter, Gary, Aban, Inmaculada, Minisman, Greg, Feese, Michelle, Kuo, Hui-Chien, Newsom-Davis, John, Wolfe, Gil, Kaminski, Henry, Jaretzki, Alfred, Sonett, Joshua, Mazia, Claudio, Saluto, Valeria, Rosenberg, Moises, Alvarez, Valeria, Rey, Lisa, King, John, Butzkueven, Helmut, Goldblatt, John, Carey, John, Pollard, John, Reddel, Stephen, Handel, Nicholas, McCaughan, Brian, Pallot, Linda, Waddington-Cruz, Márcia, Novis, Ricardo, Boasquevisque, Carlos, Dias-Tosta, Elza, Morato-Fernandez, Rubens, Ximenes, Manoel, Werneck, Lineu, Scola, Rosana, Soltoski, Paulo, Chalk, Colin, Moore, Fraser, Mulder, David, Wadup, Lisa, Oger, Joel, Mezei, Michele, Evans, Kenneth, Jiwa, Theresa, Schaffar, Anne, White, Chris, Toth, Cory, Gelfand, Gary, Wood, Susan, Pringle, Elizabeth, Zwicker, Jocelyn, Maziak, Donna, Shamji, Farid, Sundaresan, Sudhir, Seely, Andrew, Cea, Gabriel, Verduga, Renato, Aguayo, Alberto, Jander, Sebastian, Zickler, Philipp, Klein, Michael, Marx, Alexander, Ströbel, Philipp, Weis, Cleo-Aron, Melms, Arthur, Bischof, Felix, Aebert, Hermann, Ziemer, Gerhard, Nix, Wilfred, Thümler, Björn, Wilhem-Schwenkmezger, Thomas, Mayer, Eckhard, Schalke, Berthold, Pöschel, Peter, Hieber, Gisela, Wiebe, Karsten, Antonini, Giovanni, Clemenzi, Alessandro, Ceschin, Vanessa, Rendina, Erino, Venuta, Federico, Morino, Stefania, Bucci, Elisabetta, Durelli, Luca, Tavella, Alessia, Clerico, Marinella, Contessa, Giulia, Borasio, Piero, Evoli, Amelia, Servidei, Serenella, Granone, Pierluigi, Mantegazza, Renato, Berta, Emilia, Novellino, Lorenzo, Spinelli, Luisa, Motomura, Masakatsu, Matsuo, Hidenori, Nagayasu, Takeshi, Yoshikawa, Hiroaki, Takamori, Masaharu, Oda, Makoto, Matsumoto, Isao, Furukawa, Yutaka, Noto, Daisuke, Motozaki, Yuko, Iwasa, Kazuo, Yanase, Daisuke, Garcia Ramos, Guillermo, Cacho, Bernardo, de la Garza, Lorenzo, Kostera-Pruszczyk, Anne, Lipowska, Marta, Kwiecinski, Hubert, Potulska-Chromik, Anna, Orlowski, Tadeusz, Silva, Ana, Feijo, Marta, Freitas, António, Heckmann, Jeannine, Frost, Andrew, Pan, Edward, Tucker, Lawrence, Rossouw, Johan, Drummond, Fiona, Illa, Isabel, Diaz, Jorge, Leon, Carlos, Yeh, Jiann-Horng, Chiu, Hou-Chang, Hsieh, Yei-San, Witoonpanich, Rawiphan, Tunlayadechanont, Supoch, Attanavanich, Sukasom, Verschuuren, Jan, Straathof, Chiara, Titulaer, Maarten, Versteegh, Michel, Pels, Arda, Krum, Yvonne, Buckley, Camilla, Leite, M. Isabel, Vincent, Angela, Hilton-Jones, David, Ratnatunga, Chandi, Farrugia, Maria, Petty, Richard, Overell, James, Kirk, Alan, Gibson, Andrew, McDermott, Chris, Hopkinson, David, Lecky, Bryan, Watling, David, Marshall, Dot, Saminaden, Sam, Davies, Deborah, Dougan, Charlotte, Sathasivam, Siva, Page, Richard, Sussman, Jon, Ealing, John, Krysiak, Peter, Amato, Anthony, Salajegheh, Mohammad, Jaklitsch, Michael, Roe, Kristen, Ashizawa, Tetsuo, Smith, Robert Glenn, Zwischenberg, Joseph, Stanton, Penny, Barboi, Alexandru, Jaradeh, Safwan, Tisol, William, Gasparri, Mario, Haasler, George, Yellick, Mary, Dennis, Cedric, Barohn, Richard, Pasnoor, Mamatha, Dimachkie, Mazen, McVey, April, Gronseth, Gary, Dick, Arthur, Kramer, Jeffrey, Currence, Melissa, Herbelin, Laura, Belsh, Jerry, Li, George, Langenfeld, John, Mertz, Mary Ann, Benatar, Michael, Harrison, Taylor, Force, Seth, Usher, Sharon, Beydoun, Said, Lin, Frank, DeMeester, Steve, Akhter, Salem, Malekniazi, Ali, Avenido, Gina, Crum, Brian, Milone, Margherita, Cassivi, Stephen, Fisher, Janet, Ciafaloni, Emma, Heatwole, Chad, Watson, Thomas, Hilbert, James, Smirnow, Alexis, Distad, B. Jane, Weiss, Michael, Wood, Douglas, Haug, Joanna, Ernstoff, Raina, Cao, Jingyang, Chmielewski, Gary, Welsh, Robert, Duris, Robin, Gutmann, Laurie, Pawar, Gauri, Graeber, Geoffrey Marc, Altemus, Patricia, Nance, Christopher, Gutmann, Ludwig, Jackson, Carlayne, Grogan, Patrick, Calhoon, John, Kittrell, Pamela, Myers, Deborah, Hayat, Ghazala, Naunheim, Keith, Eller, Susan, Holzemer, Eve, Katirji, Bashar, Alshekhlee, Amer, Robke, Jason, Karlinchak, Brenda, Katz, Jonathan, Miller, Robert, Roan, Ralph, Forshew, Dallas, Kissel, John, Elsheikh, Bakri, Ross, Patrick, Chelnick, Sharon, Lewis, Richard, Acsadi, Agnes, Baciewicz, Frank, Masse, Stacey, Massey, Janice, Juel, Vern, Onaitis, Mark, Lowe, James, Lipscomb, Bernadette, Mozaffar, Tahseen, Thai, Gaby, Milliken, Jeffrey, Martin, Veronica, Karayan, Ronnie, Muley, Suraj, Parry, Gareth, Shumway, Sara, Oh, Shin, Claussen, Gwen, Lu, Liang, Cerfolio, Robert, Young, Angela, Morgan, Marla, Pascuzzi, Robert, Kincaid, John, Kesler, Kenneth, Guingrich, Sandy, Michaels, Angi, Phillips, Lawrence, Burns, Ted, Jones, David, Fischer, Cindy, Pulley, Michael, Berger, Alan, D'Agostino, Harry, Smith, Lisa, Rivner, Michael, Pruitt, Jerry, Landolfo, Kevin, Hillman, Demetric, Shaibani, Aziz, Sermas, Angelo, Ruel, Ross, Ismail, Farah, Sivak, Mark, Goldstein, Martin, Camunas, Jorge, Bratton, Joan, Tandan, Rup, Panitch, Hill, Leavitt, Bruce, Jones, Marilee, Muppidi, Srikanth, Vernino, Steven, Nations, Sharon, Meyer, Dan, Gorham, Nina, Wolfe, Gil I, Kaminski, Henry J, Aban, Inmaculada B, Cea, J Gabriel, Heckmann, Jeannine M, King, John O, Beydoun, Said R, Chalk, Colin H, Barboi, Alexandru C, Amato, Anthony A, Shaibani, Aziz I, Lecky, Bryan R F, Pulley, Michael T, Rivner, Michael H, Kostera-Pruszczyk, Anna, Pascuzzi, Robert M, Jackson, Carlayne E, Verschuuren, Jan J G M, Massey, Janice M, Kissel, John T, Werneck, Lineu C, Barohn, Richard J, Silvestri, Nicholas J, Conwit, Robin, Sonett, Joshua R, Jaretzki, Alfred, III, and Cutter, Gary R

Published
2019
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13. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, Georgios, Appel, Stanley H., Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard, Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Allen, Andrew S., Appel, Stanley, Bedlack, Richard S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, D’Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Mazzini, Letizia, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Al Kheifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A. Nazli, Blair, Ian P., Chio, Adriano, Cooper-Knock, Jonathan, de Carvalho, Mamede, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hardiman, Orla, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Kooyman, Maarten, Landers, John, McLaughlin, Russell, Middelkoop, Bas, Mill, Jonathan, Neto, Miguel Mitne, Moisse, Mattieu, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shatunov, Aleksey, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van der Spek, Rick, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, van Vugt, Joke, Veldink, Jan, Weber, Markus, Williams, Kelly L., Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Messina, Sonia, Simone, Isabella L., Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Wyman, Stacia K., LeNail, Alex, Van Eyk, Jennifer E., Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L.M.A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Van Eijk, Kristel R., Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Fifita, Jennifer A., Nicholson, Garth A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Rogaeva, Ekaterina, Zinman, Lorne, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Van Damme, Philip, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.

Published
2018
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17. Acceptance and Commitment Therapy for people living with motor neuron disease : an uncontrolled feasibility study

Author

Gould, Rebecca, Rawlinson, Charlotte K., Thompson, Ben, Weeks, Kirsty, Gossage-Worrall, Rebecca, Cantrill, Hannah A., Serfaty, Marc, Graham, Christopher, McCracken, Lance, White, David, Howard, Robert, Bursnall, Matt, Bradburn, Mike, Al-Chalabi, Ammar, Orrell, Richard, Chhetri, Suresh, Noad, Rupert, Radunovic, Aleksandar, Williams, Tim J., Young, Carolyn J., Dick, David, Lawrence, Vanessa, Goldstein, Laura, Young, Tracey, Ealing, John, McLeod, Hamish, Williams, Nicola, Weatherly, Helen, Cave, Richard, Chiwera, Theresa, Pagnini, Francesco, Cooper, Cindy, Shaw, Pamela, McDermott, Christopher, Group, COMMEND Collaboration, Gould, Rebecca, Rawlinson, Charlotte K., Thompson, Ben, Weeks, Kirsty, Gossage-Worrall, Rebecca, Cantrill, Hannah A., Serfaty, Marc, Graham, Christopher, McCracken, Lance, White, David, Howard, Robert, Bursnall, Matt, Bradburn, Mike, Al-Chalabi, Ammar, Orrell, Richard, Chhetri, Suresh, Noad, Rupert, Radunovic, Aleksandar, Williams, Tim J., Young, Carolyn J., Dick, David, Lawrence, Vanessa, Goldstein, Laura, Young, Tracey, Ealing, John, McLeod, Hamish, Williams, Nicola, Weatherly, Helen, Cave, Richard, Chiwera, Theresa, Pagnini, Francesco, Cooper, Cindy, Shaw, Pamela, McDermott, Christopher, and Group, COMMEND Collaboration

Abstract

Background: Motor neuron disease (MND) is a fatal, progressive neurodegenerative disease that causes progressive weakening and wasting of limb, bulbar, thoracic and abdominal muscles. Clear evidence-based guidance on how psychological distress should be managed in people living with MND (plwMND) is lacking. Acceptance and Commitment Therapy (ACT) is a form of psychological therapy that may be particularly suitable for this population. However, to the authors' knowledge, no study to date has evaluated ACT for plwMND. Consequently, the primary aim of this uncontrolled feasibility study was to examine the feasibility and acceptability of ACT for improving the psychological health of plwMND. Methods: PlwMND aged >= 18 years were recruited from 10 UK MND Care Centres/Clinics. Participants received up to 8 one-to-one ACT sessions, developed specifically for plwMND, plus usual care. Co-primary feasibility and acceptability outcomes were uptake (>= 80% of the target sample [N = 28] recruited) and initial engagement with the intervention (>= 70% completing >= 2 sessions). Secondary outcomes included measures of quality of life, anxiety, depression, disease-related functioning, health status and psychological flexibility in plwMND and quality of life and burden in caregivers. Outcomes were assessed at baseline and 6 months. Results: Both a priori indicators of success were met: 29 plwMND (104%) were recruited and 76% (22/29) attended >= 2 sessions. Attrition at 6-months was higher than anticipated (8/29, 28%), but only two dropouts were due to lack of acceptability of the intervention. Acceptability was further supported by good satisfaction with therapy and session attendance. Data were possibly suggestive of small improvements in anxiety and psychological quality of life from baseline to 6 months in plwMND, despite a small but expected deterioration in disease-related functioning and health status. Conclusions: There was good evidence of acceptability and fea

Published
2023
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18. Phenotypical differences of C9ORF72 gene-positive and negative amyotrophic lateral sclerosis: a comparative case series.

Author

White, Laura Michelle, Boardman, Jeremy, Lilleker, James, Chaouch, Amina, Kargwell, Haga, Ealing, John, and Hamdalla, Hisham

Abstract

Background Hexanucleotide repeat expansions of C9ORF72 account for a significant proportion of autosomal dominant neurodegenerative diseases in the amyotrophic lateral sclerosis (ALS)-frontotemporal dementia spectrum. In the absence of a family history, clinical identification of such patients remains difficult. We aimed to identify differences in demographics and clinical presentation between patients with C9ORF72 gene-positive ALS (C9pALS) versus C9ORF72 gene-negative ALS (C9nALS), to aid identification of these patients in the clinic and examine differences in outcomes including survival. Methods We retrospectively reviewed the clinical presentations of 32 patients with C9pALS and compared their characteristics with a cohort of 46 patients with C9nALS from the same tertiary neurosciences centre. Results Patients with C9pALS more commonly presented with mixed upper and lower motor signs (C9pALS 87.5%, C9nALS 65.2%; p=0.0352), but less frequently presented with purely upper motor neuron signs (C9pALS 3.1%, C9nALS 21.7%; p=0.0226). The C9pALS cohort had a higher frequency of cognitive impairment (C9pALS 31.3%, C9nALS 10.9%; p=0.0394) and bulbar disease (C9pALS 56.3%, C9nALS 28.3%; p=0.0186). There were no differences between cohorts in age at diagnosis, gender, limb weakness, respiratory symptoms, presentation with predominantly lower motor neuron signs or overall survival. Discussion Analysis of this ALS clinic cohort at a UK tertiary neurosciences centre adds to the small but growing understanding of the unique clinical features of patients with C9pALS. In the age of precision medicine with expanding opportunities to manage genetic diseases with disease-modifying therapies, clinical identification of such patients is increasingly important as focused therapeutic strategies become available. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Additional file 4 of Acceptance and Commitment Therapy for people living with motor neuron disease: an uncontrolled feasibility study

Author

Gould, Rebecca L., Rawlinson, Charlotte, Thompson, Ben, Weeks, Kirsty, Gossage-Worrall, Rebecca, Cantrill, Hannah, Serfaty, Marc A., Graham, Christopher D., McCracken, Lance M., White, David, Howard, Robert J., Bursnall, Matt, Bradburn, Mike, Al-Chalabi, Ammar, Orrell, Richard, Chhetri, Suresh K., Noad, Rupert, Radunovic, Aleksandar, Williams, Tim, Young, Carolyn A., Dick, David, Lawrence, Vanessa, Goldstein, Laura H., Young, Tracey, Ealing, John, McLeod, Hamish, Williams, Nicola, Weatherly, Helen, Cave, Richard, Chiwera, Theresa, Pagnini, Francesco, Cooper, Cindy, Shaw, Pamela J., and McDermott, Christopher J.

Abstract

Additional file 4. Psychologically inflexible processes and their psychologically flexible counterparts, with examples relevant to plwMND.

Published
2023
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20. Additional file 3 of Acceptance and Commitment Therapy for people living with motor neuron disease: an uncontrolled feasibility study

Author

Gould, Rebecca L., Rawlinson, Charlotte, Thompson, Ben, Weeks, Kirsty, Gossage-Worrall, Rebecca, Cantrill, Hannah, Serfaty, Marc A., Graham, Christopher D., McCracken, Lance M., White, David, Howard, Robert J., Bursnall, Matt, Bradburn, Mike, Al-Chalabi, Ammar, Orrell, Richard, Chhetri, Suresh K., Noad, Rupert, Radunovic, Aleksandar, Williams, Tim, Young, Carolyn A., Dick, David, Lawrence, Vanessa, Goldstein, Laura H., Young, Tracey, Ealing, John, McLeod, Hamish, Williams, Nicola, Weatherly, Helen, Cave, Richard, Chiwera, Theresa, Pagnini, Francesco, Cooper, Cindy, Shaw, Pamela J., and McDermott, Christopher J.

Abstract

Additional file 3. Information about baseline measures and outcome measures.

Published
2023
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21. Additional file 1 of Acceptance and Commitment Therapy for people living with motor neuron disease: an uncontrolled feasibility study

Author

Gould, Rebecca L., Rawlinson, Charlotte, Thompson, Ben, Weeks, Kirsty, Gossage-Worrall, Rebecca, Cantrill, Hannah, Serfaty, Marc A., Graham, Christopher D., McCracken, Lance M., White, David, Howard, Robert J., Bursnall, Matt, Bradburn, Mike, Al-Chalabi, Ammar, Orrell, Richard, Chhetri, Suresh K., Noad, Rupert, Radunovic, Aleksandar, Williams, Tim, Young, Carolyn A., Dick, David, Lawrence, Vanessa, Goldstein, Laura H., Young, Tracey, Ealing, John, McLeod, Hamish, Williams, Nicola, Weatherly, Helen, Cave, Richard, Chiwera, Theresa, Pagnini, Francesco, Cooper, Cindy, Shaw, Pamela J., and McDermott, Christopher J.

Abstract

Additional file 1. The consolidated standards of reporting trials (CONSORT) checklist (extension for randomised pilot or feasibility trials).

Published
2023
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22. Additional file 2 of Acceptance and Commitment Therapy for people living with motor neuron disease: an uncontrolled feasibility study

Author

Gould, Rebecca L., Rawlinson, Charlotte, Thompson, Ben, Weeks, Kirsty, Gossage-Worrall, Rebecca, Cantrill, Hannah, Serfaty, Marc A., Graham, Christopher D., McCracken, Lance M., White, David, Howard, Robert J., Bursnall, Matt, Bradburn, Mike, Al-Chalabi, Ammar, Orrell, Richard, Chhetri, Suresh K., Noad, Rupert, Radunovic, Aleksandar, Williams, Tim, Young, Carolyn A., Dick, David, Lawrence, Vanessa, Goldstein, Laura H., Young, Tracey, Ealing, John, McLeod, Hamish, Williams, Nicola, Weatherly, Helen, Cave, Richard, Chiwera, Theresa, Pagnini, Francesco, Cooper, Cindy, Shaw, Pamela J., and McDermott, Christopher J.

Abstract

Additional file 2. The template for intervention description and replication (TIDieR) checklist.

Published
2023
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28. Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12

Author

Young, Carolyn A., Ealing, John, McDermott, Christopher J., Williams, Tim L., Al-Chalabi, Ammar, Majeed, Tahir, Talbot, Kevin, Harrower, Timothy, Faull, Christina, Malaspina, Andrea, Annadale, Joe, Mills, Roger J., and Tennant, Alan

Abstract

Aim: To investigate whether the World Health Organization Disability Assessment Schedule 2.0 (WHODAS) can provide interval level measurement of disability in Amyotrophic Lateral Sclerosis (ALS), allowing parametric analyses. Methods: Data on the WHODAS 12, 32, and 36-item versions, from 1120 patients studied at one or more time points, were fit to the Rasch model and comparisons made against ALSFRS-R, King’s staging, and mortality. Trajectory modeling was undertaken for a newly diagnosed (≤6 months) cohort of 454 individuals. Results: Total scores for WHODAS 32 and 36-item versions can be converted to interval level measurement suitable for individual clinical use, and the 12-item WHODAS total for group use. The 36-item version is shown to be equivalent to the 32-item version. Expected correlations were seen with King’s staging, ALSFRS-R, and EQ-5D-5L. Trajectory analysis of disability (WHODAS 2.0) showed three clearly demarcated groups with differences in King’s staging, depressive symptomatology and mortality, but not age. Conclusions: The WHODAS 2.0 is a brief patient reported outcome measure which can be used to measure disability in ALS. Provided the patient answers all 36 (32 if not working) items, the conversion table produces an interval level estimate for parametric analyses. The different trajectories demonstrated from diagnosis support the concept of a prodromal period, and suggest the WHODAS 2.0 could be used for surveillance of at risk populations, such as those with genetic predisposition.

Published
2022
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29. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Author

Forde, Claire, primary, Burkitt-Wright, Emma, additional, Turnpenny, Peter D., additional, Haan, Eric, additional, Ealing, John, additional, Mansour, Sahar, additional, Holder, Muriel, additional, Lahiri, Nayana, additional, Dixit, Abhijit, additional, Procter, Annie, additional, Pacot, Laurence, additional, Vidaud, Dominique, additional, Capri, Yline, additional, Gerard, Marion, additional, Dollfus, Hélène, additional, Schaefer, Elise, additional, Quelin, Chloé, additional, Sigaudy, Sabine, additional, Busa, Tiffany, additional, Vera, Gabriella, additional, Damaj, Lena, additional, Messiaen, Ludwine, additional, Stevenson, David A., additional, Davies, Peter, additional, Palmer-Smith, Sheila, additional, Callaway, Alison, additional, Wolkenstein, Pierre, additional, Pasmant, Eric, additional, and Upadhyaya, Meena, additional

Published
2021
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30. Measuring disability in amyotrophic lateral sclerosis/motor neuron disease: the WHODAS 2.0-36, WHODAS 2.0-32, and WHODAS 2.0-12.

Author

Young, Carolyn A., Ealing, John, McDermott, Christopher J., Williams, Tim L., Al-Chalabi, Ammar, Majeed, Tahir, Talbot, Kevin, Harrower, Timothy, Faull, Christina, Malaspina, Andrea, Annadale, Joe, Mills, Roger J., and Tennant, Alan

Subjects
*AMYOTROPHIC lateral sclerosis, *MOTOR neuron diseases, *RASCH models, *DISABILITIES, *INTERVAL measurement
Abstract

Aim: To investigate whether the World Health Organization Disability Assessment Schedule 2.0 (WHODAS) can provide interval level measurement of disability in Amyotrophic Lateral Sclerosis (ALS), allowing parametric analyses. Methods: Data on the WHODAS 12, 32, and 36-item versions, from 1120 patients studied at one or more time points, were fit to the Rasch model and comparisons made against ALSFRS-R, King's staging, and mortality. Trajectory modeling was undertaken for a newly diagnosed (≤6 months) cohort of 454 individuals. Results: Total scores for WHODAS 32 and 36-item versions can be converted to interval level measurement suitable for individual clinical use, and the 12-item WHODAS total for group use. The 36-item version is shown to be equivalent to the 32-item version. Expected correlations were seen with King's staging, ALSFRS-R, and EQ-5D-5L. Trajectory analysis of disability (WHODAS 2.0) showed three clearly demarcated groups with differences in King's staging, depressive symptomatology and mortality, but not age. Conclusions: The WHODAS 2.0 is a brief patient reported outcome measure which can be used to measure disability in ALS. Provided the patient answers all 36 (32 if not working) items, the conversion table produces an interval level estimate for parametric analyses. The different trajectories demonstrated from diagnosis support the concept of a prodromal period, and suggest the WHODAS 2.0 could be used for surveillance of at risk populations, such as those with genetic predisposition. [ABSTRACT FROM AUTHOR]

Published
2023
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35. Clinical trials in amyotrophic lateral sclerosis: a systematic review and perspective

Author

Wong, Charis, primary, Stavrou, Maria, additional, Elliott, Elizabeth, additional, Gregory, Jenna M, additional, Leigh, Nigel, additional, Pinto, Ashwin A, additional, Williams, Timothy L, additional, Chataway, Jeremy, additional, Swingler, Robert, additional, Parmar, Mahesh K B, additional, Stallard, Nigel, additional, Weir, Christopher J, additional, Parker, Richard A, additional, Chaouch, Amina, additional, Hamdalla, Hisham, additional, Ealing, John, additional, Gorrie, George, additional, Morrison, Ian, additional, Duncan, Callum, additional, Connelly, Peter, additional, Carod-Artal, Francisco Javier, additional, Davenport, Richard, additional, Reitboeck, Pablo Garcia, additional, Radunovic, Aleksandar, additional, Srinivasan, Venkataramanan, additional, Preston, Jenny, additional, Mehta, Arpan R, additional, Leighton, Danielle, additional, Glasmacher, Stella, additional, Beswick, Emily, additional, Williamson, Jill, additional, Stenson, Amy, additional, Weaver, Christine, additional, Newton, Judith, additional, Lyle, Dawn, additional, Dakin, Rachel, additional, Macleod, Malcolm, additional, Pal, Suvankar, additional, and Chandran, Siddharthan, additional

Published
2021
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36. Bilateral vestibular schwannomas in older patients: NF2 or chance?

Author

Evans, D G, Freeman, S, Gokhale, C, Wallace, A, Lloyd, S K, Axon, P, Ward, C L, Rutherford, S, King, A, Huson, S M, Ramsden, R T, Thomas, Owen, Potter, Gillian, Laitt, Roger, Stivarou, Stavros, Kellett, Mark, Vassallo, Grace, Ealing, John, Kamaly, Ian, Mallucci, Conor, Lloyd, Simon, Mawman, Deborah, OʼDriscoll, Martin, Kilday, John-Paul, McCabe, Martin, McBain, Catherine, Anup, Raji, Perry, Mary, Jarvis, Nicola, Braithwaite, Patricia, Duff, Chris, Mowatt, David, Gajdosova, Eva, Sadiq, Ahmed, Fitzgerald, Lisa, Scott-Kitching, Vilka, Howie, Emma, and Patel, Sonia

Published
2015
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38. Phenotypical differences of C9ORF72gene-positive and negative amyotrophic lateral sclerosis: a comparative case series

Author

White, Laura Michelle, Boardman, Jeremy, Lilleker, James, Chaouch, Amina, Kargwell, Haga, Ealing, John, and Hamdalla, Hisham

Abstract

BackgroundHexanucleotide repeat expansions of C9ORF72account for a significant proportion of autosomal dominant neurodegenerative diseases in the amyotrophic lateral sclerosis (ALS)–frontotemporal dementia spectrum. In the absence of a family history, clinical identification of such patients remains difficult. We aimed to identify differences in demographics and clinical presentation between patients with C9ORF72gene-positive ALS (C9pALS) versus C9ORF72gene-negative ALS (C9nALS), to aid identification of these patients in the clinic and examine differences in outcomes including survival.MethodsWe retrospectively reviewed the clinical presentations of 32 patients with C9pALS and compared their characteristics with a cohort of 46 patients with C9nALS from the same tertiary neurosciences centre.ResultsPatients with C9pALS more commonly presented with mixed upper and lower motor signs (C9pALS 87.5%, C9nALS 65.2%; p=0.0352), but less frequently presented with purely upper motor neuron signs (C9pALS 3.1%, C9nALS 21.7%; p=0.0226). The C9pALS cohort had a higher frequency of cognitive impairment (C9pALS 31.3%, C9nALS 10.9%; p=0.0394) and bulbar disease (C9pALS 56.3%, C9nALS 28.3%; p=0.0186). There were no differences between cohorts in age at diagnosis, gender, limb weakness, respiratory symptoms, presentation with predominantly lower motor neuron signs or overall survival.DiscussionAnalysis of this ALS clinic cohort at a UK tertiary neurosciences centre adds to the small but growing understanding of the unique clinical features of patients with C9pALS. In the age of precision medicine with expanding opportunities to manage genetic diseases with disease-modifying therapies, clinical identification of such patients is increasingly important as focused therapeutic strategies become available.

Published
2023
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39. Fatigue and anxiety mediate the effect of dyspnea on quality of life in amyotrophic lateral sclerosis.

Author

Young, Carolyn, Ealing, John, McDermott, Christopher, Williams, Tim, Al-Chalabi, Ammar, Majeed, Tahir, Roberts, Rhys, Mills, Roger, and Tennant, Alan

Subjects
*AMYOTROPHIC lateral sclerosis, *DYSPNEA, *ANXIETY, *QUALITY of life, *RASCH models
Abstract

Introduction: Dyspnea (or breathlessness) due to progressive neuromuscular respiratory failure is common in amyotrophic lateral sclerosis (ALS). It is associated with anxiety, depression and reduced quality of life (QoL). For effective treatment, it is essential to understand the relationships between dyspnea, anxiety, depression and QoL. Methods: The UK Trajectories of Outcomes in Neurological Conditions-ALS study (TONiC-ALS) collected self-report measures from patients with ALS. Ordinal scales were transformed to interval-scaled estimates by the Rasch Measurement model. They were subsequently included in a series of path models where the focal relationships were dyspnea to QoL and dyspnea to depression. Results: Path analyses using 1022 participants showed that 60.5% of the variance of QoL was explained by fatigue, anxiety, dyspnea and disability. For depression, 54.1% of the variance was explained by a model of these factors. Dyspnea played an important but mostly indirect role in influencing QoL and depressive symptoms. Disability was dominated by all other factors in the model. Discussion: Dyspnea in ALS influences quality of life and depression largely through indirect effects, principally acting via anxiety and fatigue. Recognition of this is essential for clinicians to understand where to intervene for greatest benefit. Researchers must be aware that studies of the effect of dyspnea on QoL and depression require path models, measuring both direct and indirect effects, as the impact of dyspnea is likely to be significantly miscalculated if only direct effects are assessed. [ABSTRACT FROM AUTHOR]

Published
2022
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40. Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders

Author

Molina-Ramírez, Leslie Patricia, primary, Kyle, Claire, additional, Ellingford, Jamie M, additional, Wright, Ronnie, additional, Taylor, Algy, additional, Bhaskar, Sanjeev S, additional, Campbell, Christopher, additional, Jackson, Harriet, additional, Fairclough, Adele, additional, Rousseau, Abigail, additional, Burghel, George J, additional, Dutton, Laura, additional, Banka, Siddharth, additional, Briggs, Tracy A, additional, Clayton-Smith, Jill, additional, Douzgou, Sofia, additional, Jones, Elizabeth A, additional, Kingston, Helen M, additional, Kerr, Bronwyn, additional, Ealing, John, additional, Somarathi, Suresh, additional, Chandler, Kate E, additional, Stuart, Helen M, additional, Burkitt-Wright, Emma MM, additional, Newman, William G, additional, Bruce, Iain A, additional, Black, Graeme C, additional, and Gokhale, David, additional

Published
2021
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43. Do pain, anxiety and depression influence quality of life for people with amyotrophic lateral sclerosis/motor neuron disease? A national study reconciling previous conflicting literature (vol 267, pg 607, 2020)

Author

Edge, Rhiannon, Mills, Roger, Tennant, Alan, Diggle, Peter J, Young, Carolyn A, Al-Chalabi, Ammar, Williams, Timothy L, Dick, David J, Talbot, Kevin, Burke, Georgina, Majeed, Tahir, Ealing, John, McDermott, Christopher J, Pinto, Ashwin, Chandran, Siddharthan, Walsh, Jannette, Hanemann, C Oliver, Harrower, Timothy, and Grp, TONiC Study

Published
2020

45. Cognition and behaviour in frontotemporal dementia with and without amyotrophic lateral sclerosis

Author

Saxon, Jennifer A, primary, Thompson, Jennifer C, additional, Harris, Jennifer M, additional, Richardson, Anna M, additional, Langheinrich, Tobias, additional, Rollinson, Sara, additional, Pickering-Brown, Stuart, additional, Chaouch, Amina, additional, Ealing, John, additional, Hamdalla, Hisham, additional, Young, Carolyn A, additional, Blackburn, Dan, additional, Majeed, Tahir, additional, Gall, Claire, additional, Jones, Matthew, additional, and Snowden, Julie S, additional

Published
2020
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46. The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) in frontotemporal dementia

Author

Saxon, Jennifer A., primary, Thompson, Jennifer C., additional, Harris, Jennifer M., additional, Ealing, John, additional, Hamdalla, Hisham, additional, Chaouch, Amina, additional, Young, Carolyn, additional, Blackburn, Daniel, additional, Majeed, Tahir, additional, Gall, Claire, additional, Richardson, Anna M.T., additional, Langheinrich, Tobias, additional, Jones, Matthew, additional, and Snowden, Julie S., additional

Published
2020
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