Cognitive and Electrophysiological Correlates of Working Memory Impairments in Neurofibromatosis Type 1

Authors: Pobric, Gorana, Taylor, Jason R., Ramalingam, Hemavathy M., Pye, Emily, Robinson, Louise, Vassallo, Grace, Jung, JeYoung, Bhandary, Misty, Szumanska-Ryt, Karolina, Theodosiou, Louise, Evans, D. Gareth, Eelloo, Judith, Burkitt-Wright, Emma, Hulleman, Johan, Green, Jonathan, Garg, Shruti (ORCID 0000-0002-4472-4583)

Source: Journal of Autism and Developmental Disorders. Apr 2022 52(4):1478-1494.

Peer Reviewed: Y

Page Count: 17

Descriptors: Short Term Memory, Neurological Impairments, Genetic Disorders, Adolescents, Cognitive Processes, Medicine

Predictors of cognitive, behavioural and academic difficulties in NF1

Authors: Geoffray, Marie-Maude, Robinson, Louise, Ramamurthy, Kavitha, Manderson, Lauren, O'Flaherty, Julieta, Lehtonen, Annukka, Tordjman, Sylvie, Green, Jonathan, Vassallo, Grace, Garg, Shruti

Source: In Journal of Psychiatric Research August 2021 140:545-550

T2-highlighted U-fibres and rapid parenchymal volume loss in AESD: An under-recognised subtype of paediatric acute encephalopathy syndromes

Authors: Ramji, Saipriya, McCullagh, Gary, Ram, Dipak, Vassallo, Grace, Pavaine, Julija

Source: In Journal of Neuroradiology November 2020 47(6):458-463

Clinical and neuroradiological characterisation of spinal lesions in adults with Neurofibromatosis type 1

Authors: Curtis-Lopez, Carlos M., Soh, Calvin, Ealing, John, Gareth Evans, D., Burkitt Wright, Emma M.M., Vassallo, Grace, Karabatsou, Konstantina, Joshi George, K.

Source: In Journal of Clinical Neuroscience July 2020 77:98-105

A retrospective regional study of aqueduct stenosis and fourth ventricle outflow obstruction in the paediatric complex neurofibromatosis type 1 population; Aetiology, clinical presentation and management

Authors: Murphy, Christopher ^*, Vassallo, Grace, Burkitt-Wright, Emma, Hupton, Eileen, Eelloo, Judith, Lewis, Lauren, Huson, Susan, Stivaros, Stavros, Kamaly-Asl, Ian

Source: In Clinical Neurology and Neurosurgery June 2020 193

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing

Authors: Evans, D. Gareth, Hartley, Claire L., Smith, Philip T., King, Andrew T., Bowers, Naomi L., Tobi, Simon, Wallace, Andrew J., Perry, Mary, Anup, Raji, Lloyd, Simon K.W., Rutherford, Scott A., Hammerbeck-Ward, Charlotte, Pathmanaban, Omar N., Stapleton, Emma, Freeman, Simon R., Kellett, Mark, Halliday, Dorothy, Parry, Allyson, Gair, Juliette J., Axon, Patrick, Laitt, Roger, Thomas, Owen, Afridi, Shazia K., Obholzer, Rupert, Duff, Chris, Stivaros, Stavros M., Vassallo, Grace, Harkness, Elaine F., Smith, Miriam J.

Source: In Genetics in Medicine January 2020 22(1):53-59

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

Authors: Abdel Aziz, Maysara, Acharya, Triloknath, Adcock, Carolyn, Jones, Robert, Howells, Rachel, Marsh, Ben, Adejare, Kemi, Adiga, Rashmi, Wheater, Mary, Ahmed, Mansoor, Sawal, Mohammad, Goel, Chhavi, Ahmed, MAS, Alber, Michael, Wolff, Markus, Ruf, Susanne, Al-Kharusi, Asya, Al-Moasseb, Hassan, Arora, Ruchi, Beach, Richard, Atkinson, Patricia, Ayonrinde, Kunle, Bala, Pronab, Bamford, Nicola, Barakat, Nagi, Basheer, Nigel, Baxter, Peter, Mordekar, Santosh, Rittey, Chris, Borggraefe, Ingo, Borusiak, Peter, Cagnoli, Sabine, Brown, Richard, Calvert, Sophie, Cameron, Duncan, Chaniyil, Ramesh, Chinthapalli, Ravi, Chow, Gabriel, Whitehouse, William, Clarke, Vinodhini, Cooper, Chris, Datta, Alexane, D'Costa, Selwyn, de Goede, Christian, Basu, Helen, Deekollu, David, Della Marina, Adela, Dison, Penelope, Dunkley, Colin, Eaton, Megan, Ellison, Julie, Pugh, Robert, Fallon, Penny, Faza, Hani, Choonara, Imti, Morton, Richard, Ratnayaka, Mal, Ferrie, Colin, Freeman, Amanda, Warriner, Stephen, Garcia, Maria, Ghazavi, Malihe, Gibbon, Frances, Gibbs, John, Ginbey, Des, Guarino, Iolanda, Gupta, Rajesh, Hanlon, Mary, Harris, Siân, Munyard, Paul, Hemingway, Cheryl, Eltze, Christin, Kaliakatsos, Marios, Murugan, Velayutham, Robinson, Robert, Tan, Jeen, Hindley, Daniel, Hughes, Adrian, Hussain, Akmal, Boden, Greg, Hussain, Munir, Hussain, Nahin, Dabydeen, Lyvia, Irwin, Kate, Jacobs, Julia, Jauhari, Praveen, Minchom, Philip, Jones, Simon, Karenfort, Michael, Keimer, Reinhard, Kennedy, Colin, Kirkham, Fenella, Whitney, Andrea, Kirkpatrick, Martin, Jollands, Alice, Kneen, Rachel, Iyer, Anand, McTague, Amy, Spinty, Stefan, Kumar, Ramesh, Kurlemann, Gerhard, Lee, Matthew, Jurges, Eman, Levy, Robert, Lewis, Helen, Lewis, Hilary, Lloyd Evans, Andrew, Loh, Ne-Ron, Osborne, John, O'Callaghan, Finbar, Maddicks, Hilary, Luecke, Thomas, Lux, Andrew, Majumdar, Anirban, Vijayakumar, Kayal, MacKay, Mark, Freeman, Jeremy, Hayman, Michael, Kornberg, Andrew, Leventer, Rick, Ryan, Monique, Ware, Tyson, Mancais, Penny, Marinaki, Katina, Massarano, Albert, Mathew, Satheesh, McLellan, Ailsa, Melville, Colin, Mewasingh, Leena, Muhle, Hiltrud, Nagmeldin, Eisawi, Natarajan, Jeyashree, Nelapatla, Suresh, Gondwe, Jailosi, Newton, Richard, Hughes, Imelda, Martland, Tim, McCullagh, Gary, Vassallo, Grace, Nirmal, Stephen, Nolan, Melinda, Davis, Suzanne, Patel, Rakesh, Sharpe, Cynthia, Olabi, Anas, O'Neill, Kevin, Gould, Jim, Panzer, Axel, Theophil, Manuela, Parepalli, Srinivas, Hinde, Frank, Smith, Martin, Parker, Alasdair, Chitre, Manali, Philip, Sunny, Gupta, Rajat, Wassmer, Evangeline, Pike, Mike, McShane, Tony, Prakash, Nandhini, Padmakumar, Beena, Pridmore, Clair, Prietsch, Viola, Krieg, Peter, Quinlivan, Ros, Quinn, Michael, Collinson, Andrew, Rajalingam, Usha, Rakshi, Karl, Rao, Tekki, Ravi, Asha, Rifkin, Rob, Roper, Helen, Rowlandson, Piers, Sadleir, Lynette, Sahi, Sanjay, Saraswatula, Arun, O'Sullivan, Siobhan, Saravanan, Kethar, Scammell, Alastair, Rao, Sudhakar, Schmitt, Bernhard, Schubert-Bast, Susanne, Scott, David J, Scott, Fraser, Pye, Matthew, Shah, Ayaz, Stephen, Elma, Shah, Shambhu, Butterfill, Andrew, Shute, Pauline, Singh, Rajeeva, Allogoa, Brigid, Singh, Ravinder, Sinha, Gyanranjan, Sivakumar, Puthuval, Smith, Robert, Sriskandan, Sivaranjini, Steinert, Martin, Strassburg, Michael, Strozzi, Susi, Subramanian, Geeta, Tandy, Andrew, O'Callaghan, Finbar J K, Edwards, Stuart W, Alber, Fabienne Dietrich, Cortina Borja, Mario, Hancock, Eleanor, Johnson, Anthony L, Kennedy, Colin R, Likeman, Marcus, Lux, Andrew L, Mackay, Mark T, Mallick, Andrew A, Newton, Richard W, Pressler, Ronit, Rating, Dietz, Verity, Christopher M, Osborne, John P

Source: In The Lancet Child & Adolescent Health October 2018 2(10):715-725

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

Authors: Rice, Gillian I, Forte, Gabriella M A, Szynkiewicz, Marcin, Chase, Diana S, Aeby, Alec, Abdel-Hamid, Mohamed S, Ackroyd, Sam, Allcock, Rebecca, Bailey, Kathryn M, Balottin, Umberto, Barnerias, Christine, Bernard, Genevieve, Bodemer, Christine, Botella, Maria P, Cereda, Cristina, Chandler, Kate E, Dabydeen, Lyvia, Dale, Russell C, De Laet, Corinne, De Goede, Christian G E L, del Toro, Mireia, Effat, Laila, Enamorado, Noemi Nunez, Fazzi, Elisa, Gener, Blanca, Haldre, Madli, Lin, Jean-Pierre S-M, Livingston, John H, Lourenco, Charles Marques, Marques, Wilson, Jr, Oades, Patrick, Peterson, Pärt, Rasmussen, Magnhild, Roubertie, Agathe, Schmidt, Johanna Loewenstein, Shalev, Stavit A, Simon, Rogelio, Spiegel, Ronen, Swoboda, Kathryn J, Temtamy, Samia A, Vassallo, Grace, Vilain, Catheline N, Vogt, Julie, Wermenbol, Vanessa, Whitehouse, William P, Soler, Doriette, Olivieri, Ivana, Orcesi, Simona, Aglan, Mona S, Zaki, Maha S, Abdel-Salam, Ghada M H, Vanderver, Adeline, Kisand, Kai, Rozenberg, Flore, Lebon, Pierre, Crow, Yanick J

Source: In Lancet Neurology December 2013 12(12):1159-1169

New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms

Authors: Bode, Anna, Wood, Sian-Elin, Mullins, Jonathan G.L., Keramidas, Angelo, Cushion, Thomas D., Thomas, Rhys H., Pickrell, William O., Drew, Cheney J.G., Masri, Amira, Jones, Elizabeth A., Vassallo, Grace, Born, Alfred P., Alehan, Fusun, Aharoni, Sharon, Bannasch, Gerald, Bartsch, Marius, Kara, Bulent, Krause, Amanda, Karam, Elie G., Matta, Stephanie, Jain, Vivek, Mandel, Hanna, Freilinger, Michael, Graham, Gail E., Hobson, Emma, Chatfield, Sue, Vincent-Delorme, Catherine, Rahme, Jubran E., Afawi, Zaid, Berkovic, Samuel F., Howell, Owain W., Vanbellinghen, Jean-François, Rees, Mark I., Chung, Seo-Kyung, Lynch, Joseph W.

Source: In Journal of Biological Chemistry 22 November 2013 288(47):33745-33759

Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.

Authors: Sitaram, Spatikha¹, Banka, Hetalika C.¹, Vassallo, Grace^1,2, Pavaine, Julija³, Fairclough, Adele¹, Wright, Ronnie¹, Fairbanks, Lynette⁴, Bierau, Jörgen⁵, Bowden, Lydia⁶, Schwahn, Bernd¹, Horman, Alistair¹, Banka, Siddharth^1,7, siddharth.banka@manchester.ac.uk

Source: American Journal of Medical Genetics. Part A; Jan2023, Vol. 191 Issue 1, p234-237, 4p

Radiation treatment of benign tumors in NF2-related-schwannomatosis: A national study of 266 irradiated patients showing a significant increase in malignancy/malignant progression.

Authors: Evans, D Gareth, Halliday, Dorothy, Obholzer, Rupert, Afridi, Shazia, Forde, Claire, Rutherford, Scott A, Hammerbeck-Ward, Charlotte, Lloyd, Simon K, Freeman, Simon M, Pathmanaban, Omar N, Thomas, Owen M, Laitt, Roger D, Stivaros, Stavros, Kilday, John-Paul, Vassallo, Grace, McBain, Catherine, Lavin, Timothy, Paterson, Chay, Whitfield, Gillian, McCabe, Martin G

Source: Neuro-Oncology Advances; 2023, Vol. 5 Issue 1, p1-12, 12p

Infant excitation/inhibition balance interacts with executive attention to predict autistic traits in childhood.

Authors: Carter Leno, Virginia, Begum-Ali, Jannath, Goodwin, Amy, Mason, Luke, Pasco, Greg, Pickles, Andrew, Garg, Shruti, Green, Jonathan, Charman, Tony, Johnson, Mark H., Jones, Emily J. H., the EDEN, Vassallo, Grace, Burkitt-Wright, Emma, Eelloo, Judith, Gareth Evans, D, West, Siobhan, Hupton, Eileen, Lewis, Lauren, Robinson, Louise

Source: Molecular Autism; 12/8/2022, Vol. 13 Issue 1, p1-13, 13p

Subject Terms: EXECUTIVE function, INFANTS, PARENT-infant relationships, ATTENTION, EXECUTIVES, NEUROFIBROMATOSIS 1

Non-invasive brain stimulation modulates GABAergic activity in neurofibromatosis 1.

Authors: Garg, Shruti, Williams, Steve, Jung, JeYoung, Pobric, Gorana, Nandi, Tulika, Lim, Ben, Vassallo, Grace, Green, Jonathan, Evans, D. Gareth, Stagg, Charlotte J., Parkes, Laura M., Stivaros, Stavros

Source: Scientific Reports; 10/31/2022, Vol. 12 Issue 1, p1-15, 15p

Subject Terms: TRANSCRANIAL alternating current stimulation, NEUROFIBROMATOSIS 1, BRAIN stimulation, TRANSCRANIAL direct current stimulation, SHORT-term memory, FUNCTIONAL magnetic resonance imaging

Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018–2019.

Authors: Collins‐Sawaragi, Yoshua Colyn¹, y.collins-sawaragi@nhs.net, Ferner, Rosalie², Vassallo, Grace³, De Agrò, Germana³, Eccles, Simon¹, Cadwgan, Jill¹, Hargrave, Darren^1,4, Hupton, Eileen³, Eelloo, Judith³, Lunt, Lauren³, Tang, Vivian³, Burkitt Wright, Emma^3,5, Lascelles, Karine^1,2, karine.lascelles@gstt.nhs.uk

Source: American Journal of Medical Genetics. Part A; Jun2022, Vol. 188 Issue 6, p1723-1727, 5p

Neuroanatomical correlates of working memory performance in Neurofibromatosis 1.

Authors: Sawyer, Cameron, Green, Jonathan, Lim, Ben, Pobric, Gorana, Jung, JeYoung, Vassallo, Grace, Evans, D Gareth, Stagg, Charlotte J, Parkes, Laura M, Stivaros, Stavros, Muhlert, Nils, Garg, Shruti

Source: Cerebral Cortex Communications; 2022, Vol. 3 Issue 2, p1-9, 9p

Subject Terms: SHORT-term memory, NEUROFIBROMATOSIS 1, DEFAULT mode network, CORPUS striatum, GRAY matter (Nerve tissue)

ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

Authors: Alsharhan, Hind, He, Miao, Edmondson, Andrew C., Daniel, Earnest J. P., Chen, Jie, Donald, Tyhiesia, Bakhtiari, Somayeh, Amor, David J., Jones, Elizabeth A., Vassallo, Grace, Vincent, Marie, Cogné, Benjamin, Deb, Wallid, Werners, Arend H., Jin, Sheng C., Bilguvar, Kaya, Christodoulou, John, Webster, Richard I., Yearwood, Katherine R., Ng, Bobby G.

Source: Journal of Inherited Metabolic Disease; Jul2021, Vol. 44 Issue 4, p1001-1012, 12p

Disease course of neurofibromatosis type 2: a 30-year follow-up study of 353 patients seen at a single institution.

Authors: Forde, Claire, King, Andrew T, Rutherford, Scott A, Hammerbeck-Ward, Charlotte, Lloyd, Simon K, Freeman, Simon R, Pathmanaban, Omar N, Stapleton, Emma, Thomas, Owen M, Laitt, Roger D, Stivaros, Stavros, Kilday, John-Paul, Vassallo, Grace, McBain, Catherine, Kerrigan, Simon, Smith, Miriam J, McCabe, Martin G, Harkness, Elaine F, Evans, D Gareth

Source: Neuro-Oncology; Jul2021, Vol. 23 Issue 7, p1113-1124, 12p

Cerebral palsy: An overview and the role of a paediatric neurologist in the evaluation of children with complex needs for cochlear implant.

Authors: Aziz, Majid¹ (AUTHOR) Majid.Aziz@cmft.nhs.uk, Vassallo, Grace¹ (AUTHOR)

Source: Cochlear Implants International: An Interdisciplinary Journal. Sep2013 Supplement, Vol. 14, pS4-S7. 4p.

Subject Terms: *CHILDREN with cerebral palsy, *NEUROLOGISTS, *COCHLEAR implants, *PEDIATRIC surgery, *MOVEMENT disorders in children, *QUALITY of life, *LIFE expectancy, *METABOLIC disorders

Early differences in auditory processing relate to Autism Spectrum Disorder traits in infants with Neurofibromatosis Type I.

Authors: Begum-Ali, Jannath, Kolesnik-Taylor, Anna, Quiroz, Isabel, Mason, Luke, Garg, Shruti, Green, Jonathan, Johnson, Mark H., Jones, Emily J. H., the STAARS and EDEN Teams, Holman, Rebecca, Kalwarowsky, Sarah, Pirazzoli, Laura, Taylor, Chloë, Vassallo, Grace, Burkitt-Wright, Emma, Eelloo, Judith, Evans, D. Gareth, West, Siobhan, Hupton, Eileen, Lewis, Lauren

Source: Journal of Neurodevelopmental Disorders; 5/28/2021, Vol. 13 Issue 1, p1-19, 19p

Subject Terms: NEUROFIBROMATOSIS in children, AUDITORY processing disorder, AUTISM spectrum disorders in children, HABITUATION (Neuropsychology), ELECTROENCEPHALOGRAPHY

Perceived fatigue in children and young adults with neurofibromatosis type 1.

Authors: Vassallo, Grace^1,2 (AUTHOR) grace.vassallo@mft.nhs.uk, Mughal, Zulf³ (AUTHOR), Robinson, Louise¹ (AUTHOR), Weisberg, Daniel¹ (AUTHOR), Roberts, Stephen A⁴ (AUTHOR), Hupton, Eileen¹ (AUTHOR), Eelloo, Judith¹ (AUTHOR), Burkitt Wright, Emma MM^1,2 (AUTHOR), Garg, Shruti¹ (AUTHOR), Lewis, Lauren¹ (AUTHOR), Evans, D Gareth^1,2 (AUTHOR), Stivaros, Stavros M^1,5,6 (AUTHOR)

Source: Journal of Paediatrics & Child Health. Jun2020, Vol. 56 Issue 6, p878-883. 6p. 1 Diagram, 3 Charts.

Subject Terms: *NEUROFIBROMATOSIS 1, *YOUNG adults, *ADULT-child relationships, *FATIGUE (Physiology), *STANDARD deviations, *HEALTH status indicators, *MULTIDIMENSIONAL Health Locus of Control scales, *SLEEP, *RESEARCH funding, *DISEASE complications