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14. Enhancements supporting IC usage of PEM libraries on next-gen platforms

Author

Richards, D, primary, Ryujin, B, additional, Barton, N, additional, Bastea, S, additional, Beauchamp, B, additional, Beck, B, additional, Beckingsale, D, additional, Blake, R, additional, Brantley, P, additional, Brown, P, additional, Burmark, J, additional, Carson, R, additional, Chen, E, additional, Collette, M, additional, Dawson, S, additional, Fried, L, additional, Gert, G, additional, Grondalski, J, additional, Gyllenhaal, J, additional, Hall, B, additional, Haque, R, additional, Isaac, B, additional, Katz, M, additional, Kunen, A, additional, Kuo, I, additional, Le, H, additional, Loffeld, J, additional, Mattoon, C, additional, McFadden, M, additional, McKinley, S, additional, Meraz-Rodriguez, M, additional, Miller, D, additional, Minner, P, additional, Nimmakayala, R, additional, Noble, C, additional, O'Brien, M, additional, Osawe, M, additional, Patel, M, additional, Pozulp, M, additional, Pudliner, B, additional, Rana, V, additional, Rieben, R, additional, Robinson, P, additional, Skinner, A, additional, Slone, D, additional, Stephens, B, additional, Sterne, P, additional, Stevens, D, additional, Stitt, T, additional, Vargas, A, additional, Wayne, B, additional, Weiss, K, additional, White, C, additional, Whitesides, R, additional, Yang, M, additional, and Yee, B, additional

Published
2021
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20. P066 A randomised, double-blind, placebo-controlled, single-dose, crossover, pilot study investigating the effects of cannabinol (CBN) 30 mg and 300 mg on sleep architecture and next-day function in insomnia disorder

Author

Lavender, I, primary, Suraev, A, additional, McCartney, D, additional, Irwin, C, additional, Kevin, R, additional, D'Rozario, A, additional, Gordon, C, additional, Marshall, N, additional, Saini, B, additional, McGregor, I, additional, Grunstein, R, additional, Yee, B, additional, and Hoyos, C, additional

Published
2022
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22. P1019: A PREDICTION RULE TO GUIDE JAK2 MUTATION TESTING IN PATIENTS WITH SUSPECTED POLYCYTHEMIA VERA: RESULTS FROM THE JAK2 PREDICTION COHORT (JAKPOT) STUDY

Author

Chin-Yee, B., primary, Bhai, P., additional, Cheong, I., additional, Matyashin, M., additional, Hsia, C., additional, Kawata, E., additional, Ho, J., additional, Levy, M., additional, Stuart, A., additional, Lin, H., additional, Chin-Yee, I., additional, Kadour, M., additional, Sadikovic, B., additional, and Lazo-Langner, A., additional

Published
2022
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29. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Author

Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson, Dyment, David A., O'Donnell-Luria, Anne, Agrawal, Pankaj B., Coban Akdemir, Zeynep, Aleck, Kyrieckos A., Antaki, Danny, Al Sharhan, Hind, Au, Ping-Yee B., Aydin, Hatip, Beggs, Alan H., Bilguvar, Kaya, Boerwinkle, Eric, Brand, Harrison, Brownstein, Catherine A., Buyske, Steve, Chodirker, Bernard, Choi, Jungmin, Chudley, Albert E., Clericuzio, Carol L., Cox, Gerald F., Curry, Cynthia, de Boer, Elke, de Vries, Bert B. A., Dunn, Kathryn, Dutmer, Cullen M., England, Eleina M., Fahrner, Jill A., Geckinli, Bilgen B., Genetti, Casie A., Gezdirici, Alper, Gibson, William T., Gleeson, Joseph G., Greenberg, Cheryl R., Hall, April, Hamosh, Ada, Hartley, Taila, Jhangiani, Shalini N., Karaca, Ender, Kernohan, Kristin, Lauzon, Julie L., Lewis, M. E. Suzanne, Lowry, R. Brian, Lopez-Giraldez, Francesc, Matise, Tara C., McEvoy-Venneri, Jennifer, McInnes, Brenda, Mhanni, Aziz, Garcia Minaur, Sixto, Moilanen, Jukka, Nguyen, An, Nowaczyk, Malgorzata J. M., Posey, Jennifer E., Ounap, Katrin, Pehlivan, Davut, Pajusalu, Sander, Penney, Lynette S., Poterba, Timothy, Prontera, Paolo, Doriqui, Maria Juliana Rodovalho, Sawyer, Sarah L., Sobreira, Nara, Stanley, Valentina, Torun, Deniz, Wargowski, David, Witmer, P. Dane, Wong, Isaac, Xing, Jinchuan, Zaki, Maha S., Zhang, Yeting, Boycott, Kym M., Bamshad, Michael J., Nickerson, Deborah A., Blue, Elizabeth E., and Innes, A. Micheil

Subjects
0301 basic medicine, Male, ANOMALIES, INTELLECTUAL DISABILITY, Eczema, 030105 genetics & heredity, PHENOTYPE, genetic heterogeneity, Locus heterogeneity, Dubowitz syndrome, Exome, Child, Genetics (clinical), Exome sequencing, Growth Disorders, Genetics, FRAMESHIFT, Genomics, 3. Good health, VPS13B, genome sequencing, LOSS-OF-FUNCTION, Child, Preschool, symbols, Microcephaly, Female, microarray, Adolescent, DNA Copy Number Variations, Biology, NSUN2, PATIENT, DNA sequencing, Histone Deacetylases, Article, 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, ANEMIA, Genetic heterogeneity, Genome, Human, MUTATIONS, Facies, Infant, PLATFORM, medicine.disease, Repressor Proteins, 030104 developmental biology, Mendelian inheritance, exome sequencing
Abstract

Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.

Published
2021

32. Characterisation of Symptom and Polysomnographic Profiles Associated with Cardiovascular Risk in a Sleep Clinic Population with Obstructive Sleep Apnoea

Author

Kemp E, Sutherland K, Bin YS, Chan ASL, Dissanayake H, Yee BJ, Kairaitis K, Wheatley JR, de Chazal P, Piper AJ, and Cistulli PA

Subjects
obstructive sleep apnoea, cardiovascular disease, Psychiatry, RC435-571, Neurophysiology and neuropsychology, QP351-495
Abstract

Emily Kemp,1 Kate Sutherland,1– 3 Yu Sun Bin,2,3 Andrew SL Chan,1– 3 Hasthi Dissanayake,2,3 Brendon J Yee,2– 5 Kristina Kairaitis,2,3,6,7 John Robert Wheatley,2,3,6,7 Philip de Chazal,2,8 Amanda J Piper,2,4 Peter A Cistulli1– 3 On behalf of the Sydney Sleep Biobank Investigators1Department of Respiratory Medicine, Royal North Shore Hospital, St Leonards, NSW, Australia; 2Charles Perkins Centre, University of Sydney, Camperdown, NSW, Australia; 3Faculty of Medicine and Health, University of Sydney, Camperdown, NSW, Australia; 4Department of Respiratory and Sleep Medicine, Royal Prince Alfred Hospital, Camperdown, NSW, Australia; 5Centre for Integrated Research and Understanding of Sleep (CIRUS), Woolcock Institute of Medical Research, Glebe, NSW, Australia; 6Ludwig Engel Centre for Respiratory Research, Westmead Institute for Medical Research, Westmead, NSW, Australia; 7Department of Respiratory and Sleep Medicine, Westmead Hospital, Westmead, NSW, Australia; 8School of Biomedical Engineering, The University of Sydney, Darlington, NSW, AustraliaCorrespondence: Peter A Cistulli, Department of Respiratory and Sleep Medicine, Level 8A, Royal North Shore Hospital, St Leonards, NSW, 2065, Australia, Tel +61 29463 2934, Fax +61 2 9463 2099, Email peter.cistulli@sydney.edu.auAim: Recent data have identified specific symptom and polysomnographic profiles associated with cardiovascular disease (CVD) in patients with obstructive sleep apnoea (OSA). Our aim was to determine whether these profiles were present at diagnosis of OSA in patients with established CVD and in those with high cardiovascular risk. Participants in the Sydney Sleep Biobank (SSB) database, aged 30– 74 years, self-reported presence of CVD (coronary artery disease, cerebrovascular disease, or heart failure). In those without established CVD, the Framingham Risk Score (FRS) estimated 10-year absolute CVD risk, categorised as “low” (< 6%), “intermediate” (6– 20%), or “high” (> 20%). Groups were compared on symptom and polysomnographic variables.Results: 629 patients (68% male; mean age 54.3 years, SD 11.6; mean BMI 32.3 kg/m2, SD 8.2) were included. CVD was reported in 12.2%. A further 14.3% had a low risk FRS, 38.8% had an intermediate risk FRS, and 34.7% had a high risk FRS. Groups differed with respect to age, sex and BMI. OSA severity increased with established CVD and increasing FRS. The symptom of waking too early was more prevalent in the higher FRS groups (p=0.004). CVD and FRS groups differed on multiple polysomnographic variables; however, none of these differences remained significant after adjusting for age, sex, and BMI.Conclusion: Higher CVD risk was associated with waking too early in patients with OSA. Polysomnographic variations between groups were explained by demographic differences. Further work is required to explore the influence of OSA phenotypic characteristics on susceptibility to CVD.Keywords: obstructive sleep apnoea, cardiovascular disease

Published
2024

33. Poster abstracts

Author

Marshall, N. S., Almqvist, C., Grunstein, R. R., Marks, G. B., Nixon, G. M., Wawruszak, M., Verginis, N., Horne, R. S. C., Davey, M. J., Blunden, S. L., Chervin, R. D., Ng, M. L., O’Driscoll, D. M., Yang, J. S. C., Noa, A. M., Lushington, K., Camfferman, D., Gold, M., Kennedy, D., Galland, B. C., Taylor, B. J., Tripp, E. G., Phillips, A. M., Lrichardson, H., Verbeek, M., Parslow, P., Scott, S., Walker, A. M., Harding, R., Richards, H., Lack, L., Gradisar, M., Harris, J., Vu, T., Mitchell, P. I., Toth, K. A., Mcculloch, B. J., Campbell, A., Signal, T. L., O’Keeffe, K., Kanbayashi, T., Kondo, H., Satoh, S., Takemura, T., Kaneko, Y., Kanayama, H., Abe, M., Nishino, S., Ishikawa, H., Shimizu, T., Stadler, D., Catcheside, P., George, K., Thompson, C., Ryan, M., Mcevoy, R. D., Wilkinson, V., Nicholas, C., Worsnop, C., Jordan, A., Malhotra, A., Steiner, K., White, D., Trinder, J., Hellgren, J., Lee, Y., O’Brien, D., Yee, B., Rimmer, J., Grunstein, R., Hilditch, C. J., Catcheside, P. G., Rischmueller, M., Kirkness, J. P., Schneider, H., Patil, S. P., Mcginley, B. M., Smith, P. L., Schwartz, A. R., Maddison, K. J., Walsh, J. H., Philippe, D. L., Platt, P. R., Hillman, D. R., Eastwood, P. R., Yeo, A., Thomson, K., Melehan, K. L., Bartlett, D. J., Wong, K. K., Car, G., Feenstra, J. F. E., Eckert, B., Rixon, K., Hukins, C., Crummy, F., Kossmann, T., Cameron, P., Naughton, M. T., Larby, J. R., Curtin, D., Semple, K., Douglas, J., Lee, Y. H., Edwards, N., Sullivan, C. E., Lehman, S., Antic, N. A., Mcevoy, D., Mukherjee, S., Fedson, A., Palmer, L. J., Love, G., Singh, B., James, A., Cullen, S. C., Mcardle, N., Hillman, D., Clarke, P. F., Van Eps, C., Hawley, C., Lee, R. W., Chan, A. S., Cistulli, P. A., Abdul Latif, H., Stick, S., Maul, J., Wilson, A., Suresh, S., James, J., Byrne, S., Doull, I., Evans, H., Parsley, C. L., Williams, G., Dakin, C., Harris, M., Cooper, D. M., Heussler, H., Chan, E. Y.-T., Hyde, M. L., Yuill, M., Harris, M. A., Schibler, A., Wilson, S., Cooper, D., Maclean, J. E., Fitzsimons, D., Waters, K., Fitzgerald, D., Coussens, S., Berryman, M., Parsons, D., Saint, D., Pamula, Y., Martin, A. J., Abbot, D., Piper, A. J., Wang, D., Yee, B. J., Willson, G. N., Flunt, D., Bassin, D., Bateman, P., Ratnavadivel, R., Lester, S., Huang, Q. R., He, H. X., Chow, C. M., Jones, A. C., Visvalingam, V. V., Lui, P., Buchanan, P., Duce, B. L., Bliss, R. A., Bruck, D., Afaghi, A., O’Connor, H., Smith, S. S., Kilby, S., Jorgensen, G., Douglas, J. A., Johns, M. W., Tucker, A. J., Chapman, R. J., Michael, N. J., Beale, C. A., Stephens, M. N., Ferguson, S. A., Lamond, N., Jay, S. M., Dorrian, J., Jones, C. B., Roach, G. D., Dawson, D., Jackson, M. L., Howard, M. E., Kennedy, G., Swann, P., Pierce, R. J., Loughran, S. P., Wood, A. W., Croft, R. J., Barton, J. M., Thompson, B., Stough, C., Kandelaars, K., Warman, G. R., Bolton, C. A., Fernando, III, A. T., Cheeseman, J. F., Inglis, C., Huang, H.-C. C., Wlee, R., Richards, D., Turton, A., Copland, J., Ho, M., Rochford, P. D., Brazzale, D. J., Zubrinich, C., Roebuck, T. J., Toman, P., Ho, S., Szollosi, I., Naughton, M., Ruehland, W., Churchward, T., Ruehland, W. R., Churchward, T. J., Barnes, M., Lakey, T., Denotti, A. L., Dungan, G. C., Wong, K. K. H., Gilholme, J. W., Cunnington, D., Cherry, G., Teichtahl, H., Mietus, J. E., Goldberger, A. L., Thomas, R. J., Linklater, S., Martin, J., Galilogadr, S., Mihai, R., Gulliver, T., Wales, P., Salvini, A., Whitehead, B., Laybutt, N., Latham-Smith, F., Shine, N. P., Coates, H. L., Lannigan, F. J., Ng, A. T., Darendeliler, M. A., Zeng, B., Ng, A., Darendeliler, A., Cistulli, P., Qian, J., Hanssen, K., Schnider, H., Lewis, R. H., De Fazio, D., Pierce, R., Pretto, J., Mcdonald, C., Howard, M., Baulk, S. D., Biggs, S. N., Van Den Heuvel, C. J., Reid, K., Vakulin, A., Anderson, R., Banks, S., Davies, A. N., Williams, A. D., Almond, J., Beard, D., Peisker, C., Ball, M., Taylor, A., Wright, H., Clark, R., Hensley, M., Rowland, S., Windler, S., Kennedy, G. A., Gullo, M., Clarke, C., Gain, K., Murphy, M., Rebus, C., Saunders, K., Imazu, M., Morgan, H., Kwan, M., Nicholls, G., Tolson, J., Worsnop, C. J., Navin, C., Baker, G., and Van Der Touw, T.

Published
2006
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34. Oral abstracts

Author

Terrill, P. I., Wilson, S., Suresh, S., Cooper, D. M., Makarie Rofail, L., Wong, K., Yee, B., Grunstein, R., Noa, A. M., Ng, M. L., O’Driscoll, D. M., Yang, J., Davey, M. J., Horne, R. S. C., Jay, S. M., Lamond, N., Ferguson, S. A., Dorrian, J., Jones, C. B., Dawson, D., Kohler, M., Kennedy, J. D., Van Den Heuvel, C., Martin, A. J., Lushington, K., Tolhurst, S. L., Corbett, J. L., Young, A. C., Wilson, J. W., Kotsimbos, T. C., Naughton, M. T., Lee, R. W., Chan, A. S., Cistulli, P. A., Sturdy, G. A. N., Green, D. J., Stuckey, B. G. A., Hillman, D. R., Mcardle, N. M., Eastwood, P. R., Lee, S. A., Amis, T. C., Wheatley, J. R., Churchward, T. J., O’Donoghue, F., Rochford, P. D., Pierce, R. J., Barnes, M., Higgins, S., Piper, A. J., Wang, D., Yee, B. J., Grunstein, R. R., Goff, E. A., Simonds, A. K., Morrell, M. J., Espie, C. A., Kelly, H.-L., Fleming, L., White, C. A., Taylor, L. M., Samuel, L., Bruhn, H., Paul, J., Cassidy, J., Howard, M., Clarke, C., Gullo, M., Johns, M., Swan, P., Pierce, R., Kennedy, G., Bruck, D., Thomas, I., Trinder, J., Kleiman, J., Nicholas, C., Carrington, M., Allen, N., Murray, G., Lack, L., Prior, K., Luszcz, M., Kassim, A., Teng, A., Mcglynn, M., Wales, P., Mason, D., Gulliver, T., Harris, M., Dakin, C., Kwan, M., Bauer, K. M., Blunden, S., Lu, L., Peat, J., Sullivan, C., Martin, B., Edwards, N., and Williamson, B.

Published
2006
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37. P030 The effects of continuous positive airway pressure (CPAP) therapy in moderate to severe obstructive sleep apnea (OSA): A high-density electroencephalography (EEG) study

Author

D’Rozario, A, primary, Kao, C, additional, Mullins, A, additional, Memarian, N, additional, Yee, B, additional, Duffy, S, additional, Banerjee, D, additional, Cho, G, additional, Wong, K, additional, Kremerskothen, K, additional, Chapman, J, additional, Haroutonian, C, additional, Bartlett, D, additional, Naismith, S, additional, and Grunstein, R, additional

Published
2021
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43. Teaching rights.

Author

Morgan, J., Boyle, K., Yee, B., and Dickerson, S.

Published
1998

44. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome

Author

Dyment, D. A. (David A.), O'Donnell-Luria, A. (Anne), Agrawal, P. B. (Pankaj B.), Coban Akdemir, Z. (Zeynep), Aleck, K. A. (Kyrieckos A.), Antaki, D. (Danny), Al Sharhan, H. (Hind), Au, P. B. (Ping-Yee B.), Aydin, H. (Hatip), Beggs, A. H. (Alan H.), Bilguvar, K. (Kaya), Boerwinkle, E. (Eric), Brand, H. (Harrison), Brownstein, C. A. (Catherine A.), Buyske, S. (Steve), Chodirker, B. (Bernard), Choi, J. (Jungmin), Chudley, A. E. (Albert E.), Clericuzio, C. L. (Carol L.), Cox, G. F. (Gerald F.), Curry, C. (Cynthia), De Boer, E. (Elke), De Vries, B. B. (Bert B. A.), Dunn, K. (Kathryn), Dutmer, C. M. (Cullen M.), England, E. M. (Eleina M.), Fahrner, J. A. (Jill A.), Geckinli, B. B. (Bilgen B.), Genetti, C. A. (Casie A.), Gezdirici, A. (Alper), Gibson, W. T. (William T.), Gleeson, J. G. (Joseph G.), Greenberg, C. R. (Cheryl R.), Hall, A. (April), Hamosh, A. (Ada), Hartley, T. (Taila), Jhangiani, S. N. (Shalini N.), Karaca, E. (Ender), Kernohan, K. (Kristin), Lauzon, J. L. (Julie L.), Lewis, M. E. (M. E. Suzanne), Lowry, R. B. (R. Brian), López-Giráldez, F. (Francesc), Matise, T. C. (Tara C.), McEvoy-Venneri, J. (Jennifer), McInnes, B. (Brenda), Mhanni, A. (Aziz), Garcia Minaur, S. (Sixto), Moilanen, J. (Jukka), Nguyen, A. (An), Nowaczyk, M. J. (Malgorzata J. M.), Posey, J. E. (Jennifer E.), Õunap, K. (Katrin), Pehlivan, D. (Davut), Pajusalu, S. (Sander), Penney, L. S. (Lynette S.), Poterba, T. (Timothy), Prontera, P. (Paolo), Rodovalho Doriqui, M. J. (Maria Juliana), Sawyer, S. L. (Sarah L.), Sobreira, N. (Nara), Stanley, V. (Valentina), Torun, D. (Deniz), Wargowski, D. (David), Witmer, P. D. (P. Dane), Wong, I. (Isaac), Xing, J. (Jinchuan), Zaki, M. S. (Maha S.), Zhang, Y. (Yeting), C. C. (Care4Rare Consortium), C. F. (Centers For Mendelian Genomics), Boycott, K. M. (Kym M.), Bamshad, M. J. (Michael J.), Nickerson, D. A. (Deborah A.), Blue, E. E. (Elizabeth E.), and Innes, A. M. (A. Micheil)

Subjects
genetic heterogeneity, genome sequencing, Dubowitz syndrome, exome sequencing, microarray
Abstract

Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a “Dubowitz-like” condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed with DubS. After genome-wide sequencing, rare variant filtering and computational and Mendelian genomic analyses, a presumptive molecular diagnosis was made in 13/27 (48%) families. The molecular diagnoses included biallelic variants in SKIV2L, SLC35C1, BRCA1, NSUN2; de novo variants in ARID1B, ARID1A, CREBBP, POGZ, TAF1, HDAC8, and copy-number variation at1p36.11(ARID1A), 8q22.2(VPS13B), Xp22, and Xq13(HDAC8). Variants of unknown significance in known disease genes, and also in genes of uncertain significance, were observed in 7/27 (26%) additional families. Only one gene, HDAC8, could explain the phenotype in more than one family (N = 2). All but two of the genomic diagnoses were for genes discovered, or for conditions recognized, since the introduction of next-generation sequencing. Overall, the DubS-like clinical phenotype is associated with extensive locus heterogeneity and the molecular diagnoses made are for emerging clinical conditions sharing characteristic features that overlap the DubS phenotype.

Published
2021

45. The impact of video gaming on cognitive functioning of people with schizophrenia (GAME-S): study protocol of a randomised controlled trial

Author

Välimäki, M, Yang, M, Lam, YTJ, Lantta, T, Palva, M, Palva, S, Yee, B, Yip, SH, Yu, KSD, Chang, HCC, Cheng, PYI, Bressington, D, Välimäki, M, Yang, M, Lam, YTJ, Lantta, T, Palva, M, Palva, S, Yee, B, Yip, SH, Yu, KSD, Chang, HCC, Cheng, PYI, and Bressington, D

Abstract

Background: Video gaming is a promising intervention for cognitive and social impairment in patients with schizophrenia. A number of gaming interventions have been evaluated in small-scale studies with various patient groups, but studies on patients with schizophrenia remain scarce and rarely include the evaluation of both clinical and neurocognitive outcomes. In this study, we will test the effectiveness of two interventions with gaming elements to improve cognitive and clinical outcomes among persons with schizophrenia. Methods: The participants will be recruited from different outpatient units (e.g., outpatient psychiatric units, day hospitals, residential care homes). The controlled clinical trial will follow a three-arm parallel-group design: 1) cognitive training (experimental group, CogniFit), 2) entertainment gaming (active control group, SIMS 4), and 3) treatment as usual. The primary outcomes are working memory function at 3-month and 6-month follow-ups. The secondary outcomes are patients’ other cognitive and social functioning, the ability to experience pleasure, self-efficacy, and negative symptoms at 3-month and 6-month follow-ups. We will also test the effectiveness of gaming interventions on neurocognitive outcomes (EEG and 3 T MRI plus rs-fMRI) at a 3-month follow-up as an additional secondary outcome. Data will be collected in outpatient psychiatric services in Hong Kong. Participants will have a formal diagnosis of schizophrenia and be between 18 and 60 years old. We aim to have a total of 234 participants, randomly allocated to the three arms. A sub-sample of patients (N = 150) will be recruited to undergo an EEG. For neuroimaging assessment, patients will be randomly allocated to a subset of patients (N=126). We will estimate the efficacy of the interventions on the primary and secondary outcomes based on the intention-to-treat principle. Behavioural and EEG data will be analysed separately. Discussion: The study will characterise benefits of ga

Published
2021

50. Poster presentations

Author

Olds, T., Blunden, S., Petkov, J., Forchino, F., Teng, A., Bartle, A., Sadeh, A., Mindell, J., Thompson, K., Richdale, A., Schreck, K., Gibson, R., Gander, P., Elder, D., Levendowski, D., Rosen, C., Berka, C., Zavora, T., Olmstead, R., Popovic, D., Westbrook, P., Piteo, A., Roberts, R., Nettelbeck, T., Lushington, K., Van Den Heuvel, C., Kohler, M., Martin, J., Kennedy, D., Jackman, A., Davey, M., Nixon, G., Hope, S., Catroppa, C., O’Driscoll, D., Anderson, V., Trinder, J., Horne, R., Milte, C., Sinn, N., Quach, J., Hiscock, H., Wake, M., Fulton, M., Sciberras, E., Efron, D., Oberklaid, F., Jay, S., Eng, A., ’t Mannetje, A., Cheng, S., Douwes, J., Ellison-Loschmann, L., Mclean, D., Pearce, N., Zhou, X., Sargent, C., Darwent, D., Ferguson, S., Paech, G., Mattews, R., Williams, L., Roach, G., Martin, D., Lastella, A., Matthews, R., Wilsmore, N., Galante, R., Lee, J., Barnes, M., Kennedy, G., Howard, M., Smith, S., Doye, G., Mangie, J., Signal, L., Phipps-Nelson, J., Redman, J., Rajaratnam, S., Lamond, N., Dorrian, J., Whitwell, B., Rogers, N., Sutherland, K., Chan, A. S. L., Deane, S. A., Zeng, B., Lee, R. W. W., Darendeliler, M. A., Cistulli, P. A., Spong, J., Brown, D., Berlowitz, D., Keihani, S. M., Hillman, D., Collins, A., Jackson, M., Pierce, R., O’Donoghue, F., Bignold, J., Mercer, J., Gorman, M., Mcevoy, D., Antic, N., Catcheside, P., Verma, M., Wheatley, J., Amis, T., Marshall, N., Grunstein, R., Peltonen, M., Carlson, L., Hedner, J., Stenlof, K., Sjostrom, L., Williams, S., Kennerson, M., Liu, P., Little, C., Watson, A., Dunn, N., Beevers, A., Douglas, J., Ruehland, W., Singh, P., Thornton, A., Copland, J., Rochford, P., Perri, R., Ward, K., Palmer, L., Mukherjee, S., Cooper, M., Love, G., Fedson, A., Simpson, L., Edwards, C., Szegner, B., Wong, K., Cistulli, P., Marks, G., Zwar, N., Norman, M., Middleton, S., Sullivan, C., Terrill, P., Mason, D., Parsley, C., Dakin, C., Wilson, S., Khandoker, A., Palaniswami, M., Karunajeewa, A., Abeyratne, U., Hukins, C., Lee, S., Borodzicz, J., Amatoury, J., Robinson, T., Ip, T., Mackenzie, J., Scott, E., Hickie, I., Lovato, N., Lack, L., Wright, H., Muller, D., van Den Berg, M., van Dongen, H. P. A., Miller, B., Orr, R., O’Connor, H., Chow, C. M., Litchfield, C., Glozier, N., Ogeil, R., Broadbear, J., Bakar, R. A., Denotti, A., Rae, C., Bartlett, D. J., Wong, K. K. H., Yang, Q., Walton, D., Sachinwalla, T., Grunstein, R. R., Dang, D., Cunnington, D., Swieca, J., Chen, Y., Young, A., Jakobson, A., Fitzgerald, P., Conduit, R., Smith, D., Jorgensen, G., Lee, H. L., Simpson, G., Ferns, J., Shepherd, K., James, A., Musk, A., Hunter, M., Eastwood, P., Duce, B., Al-Abri, M., Al-Hashmi, K., Jaju, D., Al-Rawas, O., Hassan, M., Ngan, A., Marshall, M. J., Dawson, A. D. G., Bucks, R. S., Walker, A., Hensley, R., Machaalani, R., Waters, K., Harrison, H., Tai, A., Raju, S., Williamson, B., Richardson, H. L., Walker, A. M., Horne, R. S. C., Yuill, M., Harris, M. A., Griffiths, A., Trang, L., Paramalingam, N., Davis, E., Jones, T., Stick, S., Wilson, A., Suresh, S., Cooper, D., Walsh, J., Maddison, K., Hoegh, T., Daulatzai, M., Karmakar, C., Khan, N., Bei, B., Nicholas, C., Worsnop, C., Jordan, A., Saboisky, J., White, D., Malhotra, A., Stadler, D., Mcevoy, R. D., Paul, D., Bradley, J., Maclean, J., Fitzgerald, D., Witcombe, N., Yiallourou, S., Sands, S., Ratnavadivel, R., George, K., Ryan, M., Thompson, C., Catcheside, P. G., Harmer, L., Deacon, N., Wang, D., Piper, A., Yee, B., Mihai, R., Davey, M. J., Nixon, G. M., Tyler, L., Vidal, A., Lambert, S., Tolson, J., Henderson, M., Maree, B., Campbell, A., Neill, A., Heraganahally, S., Bowden, J., Carney, S., Robinson, S., Sajkov, D., Bakker, J., Rixon, K., Hanssen, K., Chia, C., Sather, T., Keir, G., Chikazaza, M., Shirlaw, T., Jones, D., West, J., Dooney, N., Teo, M. Y., Falland, K., Phung, S., Cullen, S., Kevin, G., Mcardle, N., Joosten, S., Turton, A., Hamilton, G., Lavercombe, M., Hocking, V., Clarence, M., Thien, F., Senin, S. R., Ong, T. H., Ong, G., Roebuck, T., Ho, S., Langan-Fox, J., Davis, S., Van, E., Paul, E., Naughton, M., Iqbal, S. M., Gray, P., Urquhart, D., Williams, G., Verginis, N., Boynton, A., Gradinger, F., Partinen, M., Stucki, G., Cooper, P., Biggs, S., Dollman, J., Sweeney, B., Jones, L., Milgrom, J., Ericksen, J., Parry, B., Meliska, C., Sorenson, D., Lopez, A., Martinez, F., Nowakowski, S., Hauger, R., Elliott, J., Kripke, D., Duncan, S., Larsson, E., Fuller, J., Krass, I., Saini, B., and Junge, M.

Published
2009
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