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2. Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

Author

Fehlings, Darcy L., Zarrei, Mehdi, Engchuan, Worrawat, Sondheimer, Neal, Thiruvahindrapuram, Bhooma, MacDonald, Jeffrey R., Higginbotham, Edward J., Thapa, Ritesh, Behlim, Tarannum, Aimola, Sabrina, Switzer, Lauren, Ng, Pamela, Wei, John, Danthi, Prakroothi S., Pellecchia, Giovanna, Lamoureux, Sylvia, Ho, Karen, Pereira, Sergio L., de Rijke, Jill, Sung, Wilson W. L., Mowjoodi, Alireza, Howe, Jennifer L., Nalpathamkalam, Thomas, Manshaei, Roozbeh, Ghaffari, Siavash, Whitney, Joseph, Patel, Rohan V., Hamdan, Omar, Shaath, Rulan, Trost, Brett, Knights, Shannon, Samdup, Dawa, McCormick, Anna, Hunt, Carolyn, Kirton, Adam, Kawamura, Anne, Mesterman, Ronit, Gorter, Jan Willem, Dlamini, Nomazulu, Merico, Daniele, Hilali, Murto, Hirschfeld, Kyle, Grover, Kritika, Bautista, Nelson X., Han, Kara, Marshall, Christian R., Yuen, Ryan K. C., Subbarao, Padmaja, Azad, Meghan B., Turvey, Stuart E., Mandhane, Piush, Moraes, Theo J., Simons, Elinor, Maxwell, George, Shevell, Michael, Costain, Gregory, Michaud, Jacques L., Hamdan, Fadi F., Gauthier, Julie, Uguen, Kevin, Stavropoulos, Dimitri J., Wintle, Richard F., Oskoui, Maryam, and Scherer, Stephen W.

Published
2024
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5. Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA)

Author

Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, and Mercuri, Eugenio

Published
2023
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6. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study.

Author

Rudnicki, Stacy A, Andrews, Jinsy A, Duong, Tina, Cockroft, Bettina M, Malik, Fady I, Meng, Lisa, Wei, Jenny, Wolff, Andrew A, Genge, Angela, Johnson, Nicholas E, Tesi-Rocha, Carolina, Connolly, Anne M, Darras, Basil T, Felice, Kevin, Finkel, Richard S, Shieh, Perry B, Mah, Jean K, Statland, Jeffrey, Campbell, Craig, Habib, Ali A, Kuntz, Nancy L, Oskoui, Maryam, and Day, John W

Subjects
Muscle, Skeletal, Humans, Muscular Atrophy, Spinal, Troponin I, Drugs, Investigational, Cohort Studies, Double-Blind Method, Adolescent, Adult, Aged, Middle Aged, Child, Female, Male, Young Adult, Walk Test, Reldesemtiv, pharmacodynamics, pharmacokinetics, six-minute walk test, spinal muscular atrophy clinical trial, Clinical Research, Clinical Trials and Supportive Activities, Rare Diseases, 6.1 Pharmaceuticals, Neurosciences, Pharmacology and Pharmaceutical Sciences, Public Health and Health Services, Neurology & Neurosurgery
Abstract

This phase 2, double-blind, placebo-controlled, hypothesis-generating study evaluated the effects of oral reldesemtiv, a fast skeletal muscle troponin activator, in patients with spinal muscular atrophy (SMA). Patients ≥ 12 years of age with type II, III, or IV SMA were randomized into 2 sequential, ascending reldesemtiv dosing cohorts (cohort 1: 150 mg bid or placebo [2:1]; cohort 2: 450 mg bid or placebo [2:1]). The primary objective was to determine potential pharmacodynamic effects of reldesemtiv on 8 outcome measures in SMA, including 6-minute walk distance (6MWD) and maximum expiratory pressure (MEP). Changes from baseline to weeks 4 and 8 were determined. Pharmacokinetics and safety were also evaluated. Patients were randomized to reldesemtiv 150 mg, 450 mg, or placebo (24, 20, and 26, respectively). The change from baseline in 6MWD was greater for reldesemtiv 450 mg than for placebo at weeks 4 and 8 (least squares [LS] mean difference, 35.6 m [p = 0.0037] and 24.9 m [p = 0.058], respectively). Changes from baseline in MEP at week 8 on reldesemtiv 150 and 450 mg were significantly greater than those on placebo (LS mean differences, 11.7 [p = 0.038] and 13.2 cm H2O [p = 0.03], respectively). For 6MWD and MEP, significant changes from placebo were seen in the highest reldesemtiv peak plasma concentration quartile (Cmax > 3.29 μg/mL; LS mean differences, 43.3 m [p = 0.010] and 28.8 cm H2O [p = 0.0002], respectively). Both dose levels of reldesemtiv were well tolerated. Results suggest reldesemtiv may offer clinical benefit and support evaluation in larger SMA patient populations.

Published
2021

7. Correction to: Two‑year efficacy and safety of risdiplam in patients with type 2 or non‑ambulant type 3 spinal muscular atrophy (SMA)

Author

Oskoui, Maryam, Day, John W., Deconinck, Nicolas, Mazzone, Elena S., Nascimento, Andres, Saito, Kayoko, Vuillerot, Carole, Baranello, Giovanni, Goemans, Nathalie, Kirschner, Janbernd, Kostera-Pruszczyk, Anna, Servais, Laurent, Papp, Gergely, Gorni, Ksenija, Kletzl, Heidemarie, Martin, Carmen, McIver, Tammy, Scalco, Renata S., Staunton, Hannah, Yeung, Wai Yin, Fontoura, Paulo, and Mercuri, Eugenio

Published
2023
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8. Clinical course, imaging, and pathological features of 45 adult and pediatric cases of myelin oligodendrocyte glycoprotein antibody-associated disease

Author

Boudjani, Hayet, Fadda, Giulia, Dufort, Gabrielle, Antel, Jack, Giacomini, Paul, Levesque-Roy, Myriam, Oskoui, Maryam, Duquette, Pierre, Prat, Alexandre, Girard, Marc, Rebillard, Rose-Marie, Meijer, Inge, Pinchefsky, Elana, Nguyen, Cam-Tu Emilie, Rossignol, Elsa, Rouleau, Jacinthe, Blanchard, Oliver, Khairallah, Nicole, Beauchemin, Philippe, Trudelle, Anne-Marie, Lapointe, Emmanuelle, Saveriano, Alexander, and Larochelle, Catherine

Published
2023
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11. Practice guideline: Treatment for insomnia and disrupted sleep behavior in children and adolescents with autism spectrum disorder: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology.

Author

Williams Buckley, Ashura, Hirtz, Deborah, Oskoui, Maryam, Armstrong, Melissa, Batra, Anshu, Bridgemohan, Carolyn, Coury, Daniel, Dawson, Geraldine, Donley, Diane, Findling, Robert, Gaughan, Thomas, Gloss, David, Gronseth, Gary, Kessler, Riley, Merillat, Shannon, Michelson, David, Owens, Judith, Pringsheim, Tamara, Sikich, Linmarie, Thurm, Audrey, Tuchman, Roberto, Warren, Zachary, Wetherby, Amy, Wiznitzer, Max, Ashwal, Stephen, and Stahmer, Aubyn

Subjects
Adolescent, Child, Humans, Autism Spectrum Disorder, Sleep Initiation and Maintenance Disorders
Abstract

OBJECTIVE: To review pharmacologic and nonpharmacologic strategies for treating sleep disturbances in children and adolescents with autism spectrum disorder (ASD) and to develop recommendations for addressing sleep disturbance in this population. METHODS: The guideline panel followed the American Academy of Neurology 2011 guideline development process, as amended. The systematic review included studies through December 2017. Recommendations were based on evidence, related evidence, principles of care, and inferences. MAJOR RECOMMENDATIONS LEVEL B: For children and adolescents with ASD and sleep disturbance, clinicians should assess for medications and coexisting conditions that could contribute to the sleep disturbance and should address identified issues. Clinicians should counsel parents regarding strategies for improved sleep habits with behavioral strategies as a first-line treatment approach for sleep disturbance either alone or in combination with pharmacologic or nutraceutical approaches. Clinicians should offer melatonin if behavioral strategies have not been helpful and contributing coexisting conditions and use of concomitant medications have been addressed, starting with a low dose. Clinicians should recommend using pharmaceutical-grade melatonin if available. Clinicians should counsel children, adolescents, and parents regarding potential adverse effects of melatonin use and the lack of long-term safety data. Clinicians should counsel that there is currently no evidence to support the routine use of weighted blankets or specialized mattress technology for improving disrupted sleep. If asked about weighted blankets, clinicians should counsel that the trial reported no serious adverse events with blanket use and that blankets could be a reasonable nonpharmacologic approach for some individuals.

Published
2020

12. Risk Factors for Perinatal Arterial Ischemic Stroke

Author

Srivastava, Ratika, primary, Cole, Lauran, additional, Amador, Kimberly, additional, Forkert, Nils Daniel, additional, Dunbar, Mary, additional, Shevell, Michael I., additional, Oskoui, Maryam, additional, Basu, Anna P., additional, Rivkin, Michael J., additional, Shany, Eilon, additional, de Vries, Linda S., additional, Dewey, Deborah, additional, Letourneau, Nicole, additional, Mouches, Pauline, additional, Hill, Michael D., additional, and Kirton, Adam, additional

Published
2024
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13. Teratogenesis, Perinatal, and Neurodevelopmental Outcomes After In Utero Exposure to Antiseizure Medication

Author

Pack, Alison M., primary, Oskoui, Maryam, additional, Williams Roberson, Shawniqua, additional, Donley, Diane K., additional, French, Jacqueline, additional, Gerard, Elizabeth E., additional, Gloss, David, additional, Miller, Wendy R., additional, Munger Clary, Heidi M., additional, Osmundson, Sarah S., additional, McFadden, Brandy, additional, Parratt, Kaitlyn, additional, Pennell, Page B., additional, Saade, George, additional, Smith, Don B., additional, Sullivan, Kelly, additional, Thomas, Sanjeev V., additional, Tomson, Torbjörn, additional, Dolan O'Brien, Mary, additional, Botchway-Doe, Kylie, additional, Silsbee, Heather M., additional, and Keezer, Mark R., additional

Published
2024
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16. Interobserver Reliability for Identifying Specific Patterns of Placental Injury as Defined by the Amsterdam Classification

Author

Redline, Raymond W., Vik, Torstein, Heerema-McKenney, Amy, Jamtoy, Ann-Helen, Ravishankar, Sanjita, Nu, Tuyet Nhung Ton, Vogt, Christina, Ng, Pamela, Nelson, Karin B., Lydersen, Stian, and Oskoui, Maryam

Subjects
Practice guidelines (Medicine), Placental diseases -- Diagnosis, Diagnostic imaging -- Methods -- Standards, Health
Abstract

Context.--Placental pathology is an essential tool for understanding neonatal illness. The recent Amsterdam international consensus has standardized criteria and terminology, providing harmonized data for research and clinical care. Objective.--To evaluate the interobserver reliability of these criteria between pathologists at different levels of experience using digitally scanned slides from placentas in a birth population including a large proportion of normal deliveries. Design.--This was a secondary analysis of selected placentas from a large case-control study of placental lesions associated with neonatal encephalopathy. Histologic slides from 80 placentas were digitally scanned and blindly evaluated by 6 pathologists. Interobserver reliability was assessed by positive and negative agreement, Fleiss k, and interrater correlation coefficients. Results.--Overall agreement on the diagnosis, grading, and staging of acute chorioamnionitis and villitis of unknown etiology was moderate to good for all observers and good to excellent for a subset of 4 observers. Agreement on the diagnosis and subtyping of fetal vascular malperfusion was poor to fair for all observers and fair to moderate for the subset of 4 pathologists. Agreement on accelerated villous maturation was poor. Conclusions.--This study critically evaluates interobserver reliability for lesions defined by the Amsterdam consensus using scanned images with a low frequency of pathologic lesions. Although reliability was good to excellent for inflammatory lesions, lower reliability for vascular lesions emphasizes the need to more explicitly define the specific histologic features and boundaries for these patterns. (Arch Pathol Lab Med. 2022;146:372-378; doi: 10.5858/arpa.2020-0753-OA), A consensus conference held in Amsterdam in 2015 convened expert perinatal pathologists from around the world with the goal of introducing standardization to a group of regionalized and somewhat idiosyncratic [...]

Published
2022
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17. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial

Author

Volpe, Joseph J., Posner, John, Kellner, Ulrich, Quinlivan, Rosaline, Daron, Aurore, Delstanche, Stéphanie, Bruninx, Romain, Dal Farra, Fabian, Schneider, Olivier, Deconinck, Nicolas, Balikova, Irina, Delbeke, Patricia, Joniau, Inge, Tahon, Valentine, Wittevrongel, Sylvia, De Vos, Elke, Goemans, Nathalie, Casteels, Ingele, De Waele, Liesbeth, Cassiman, Catherine, Prové, Lies, Kinoo, David, Vancampenhout, Lisa, Van Den Hauwe, Marleen, Van Impe, Annelies, Prufer de Queiroz Campos Araujo, Alexandra, Chacon Pereira, Aline, Nardes, Flávia, Haefeli, Lorena, Rossetto, Julia, Ferreira Rebel, Marcos, Almeida Pereira, Jaqueline, Campbell, Craig, Sharan, Sapna, McDonald, Wendy, Scholtes, Cheryl, Mah, Jean, Sframeli, Maria, Chiu, Angela, Hagel, Jane, Oskoui, Maryam, Beneish, Raquel, Cariou-Palmer, Gaela, Pham, Connie, Toffoli, Daniela, Arpin, Stephanie, Turgeon Desilets, Sarah, Wang, Yi, Hu, Chaoping, Huan, Jianfeng, Qian, Chen, Shen, Li, Xiao, Ying, Zhou, Zhenxuan, Li, Hui, Wang, Sujuan, Xiong, Hui, Chang, Xingzhi, Dong, Hui, Liu, Ying, Sang, Tian, Wei, Cuijie, Wen, Jing, Cao, Yiwen, Ly, Xingyao, Zhao, Jingjing, Li, Wenzhu, Qin, Lun, Barisic, Nina, Galiot Delic, Martina, Ivkic, Petra Kristina, Vukojevic, Nenad, Kern, Ivana, Najdanovic, Boris, Skugor, Marin, Servais, Laurent, Boespflug-Tanguy, Odile, Gidaro, Teresa, Seferian, Andreea, De Lucia, Silvana, Barreau, Emmanuel, Mnafek, Nabila, Momtchilova, Marta Milkova, Peche, Helene, Valherie, Carole, Grange, Allison, Lilien, Charlotte, Milascevic, Darko, Tachibana, Shotaro, Ravelli, Claudia, Cardas, Ruxandra, Taytard, Jessica, Aubertin, Guillaume, Vanden Brande, Laure, Davion, Jean-Baptiste, Coopman, Stephanie, Bouacha, Ikram, Debruyne, Philippe, Defoort, Sabine, Derlyn, Gilles, Leroy, Florian, Danjoux, Loïc, Guilbaud, Julie, Desguerre, Isabelle, Barnérias, Christine, Semeraro, Michaela, Bremond-Gignac, Dominique, Bruere, Lenaic, Rateaux, Maxence, Deladrière, Élodie, Germa, Virginie, Pereon, Yann, Mercie, Sandra, Billaud, Fanny, Le Goff, Lucie, Letellier, Guy, Vuillerot, Carole, Portefaix, Aurélie, De-Montferrand, Camille, Le-Goff, Laure, Fontaine, Stephanie, Saidi, Manel, Bouzid, Nabil, Barriere, Aurélie, Tinat, Marie, Kirschner, Janbernd, Dreesbach, Michelle, Lagréze, Wolf, Michaelis, Bettina, Molnar, Fanni, Seger, Dorina, Vogt, Sibylle, Bertini, Enrico, D'Amico, Adele, Petroni, Sergio, Bonetti, Anna Maria, Carlesi, Adelina, Mizzoni, Irene, Bruno, Claudio, Priolo, Enrico, Rao, Giuseppe, Morando, Simone, Tacchetti, Paola, Zuffi, Ambra, Comi, Giacomo Pietro, Brusa, Roberta, Corti, Stefania, Daniele, Velardo, Govoni, Alessandra, Magri, Francesca, Minorini, Valeria, Osnaghi, Silvia Gabriella, Abbati, Francesca, Fassini, Federica, Foa, Michaela, Lopopolo, Amaqlia, Meneri, Megi, Zoppas, Francesca, Parente, Valeria, Baranello, Giovanni, Masson, Riccardo, Bianchi Marzoli, Stefania, Santarsiero, Diletta, Garcia Sierra, Myriam, Tremolada, Gemma, Arnoldi, Maria Teresa, Vigano, Marta, Zanin, Riccardo, Mercuri, Eugenio, Antonaci, Laura, de Sanctis, Roberto, Pane, Marika, Pera, Maria Carmela, Amorelli, Giulia Maria, Barresi, Costanza, D'Amico, Gugliemo, Orazi, Lorenzo, Coratti, Giorgia, Haginoya, Kazuhiro, Kato, Atsuko, Morishita, Yuko, Kira, Ryutaro, Akiyama, Kiyomu, Goto, Miwako, Mori, Yujiro, Okamoto, Misato, Tsutsui, Saki, Takatsuji, Yuta, Tanaka, Aya, Komaki, Hirofumi, Omori, Miina, Suzuki, Ippei, Takeuchi, Mizuki, Todoroki, Daisuke, Watanabe, Seji, Matsubayashi, Tomoko, Inakazu, Emi, Nagura, Hiroe, Suzuki, Akira, Usui, Manami, Ishikawa, Nobutsune, Harada, Yousuke, Fudeyasu, Kenishi, Hirata, Kazuhiko, Michiue, Kana, Ueda, Kazuyuki, Saito, Kayoko, Fujitani, Junko, Arakawa, Reiko, Takano, Kozue, Yashiro, Shigeko, Seki, Maiko, Sano, Nozomi, Fukuyama, Koji, Matsumoto, Yuki, Miyazaki, Hirofumi, Shibata, Minoru, Kobayashi, Kyoko, Nakamura, Yukie, Takeshima, Yasuhiro, Kuma, Moe, Kostera-Pruszczyk, Anna, Fraczek, Anna, Jedrzejowska, Maria, Lusakowska, Anna, Czeszyk-Piotrowicz, Agnieszka, Hautz, Wojciech, Rakusiewicz, Klaudia, Burlewicz, Malgorzata, Gierlak-Wojcicka, Zuzanna, Kepa, Malwina, Sikorski, Adam, Sobieraj, Marcin, Mazurkiewicz-Beldzinska, Maria, Lemska, Anna, Modrzejewska, Sandra, Koberda, Mateusz, Stodolska-Koberda, Urszula, Waskowska, Agnieszka, Kolendo, Jagoda, Sobierajska-Rek, Agnieszka, Steinborn, Barbara, Dalz, Magdalena, Grabowska, Julia, Hajduk, Wojciech, Janasiewicz-Karachitos, Justyna, Klimas, Monika, Stopa, Marcin, Gajewska, Ewa, Pusz, Beata, Vlodavets, Dmitry, Melnik, Evgenia, Leppenen, Natalya, Yupatova, Nataliya, Monakhova, Anastasya, Papina, Yulia, Shidlovsckaia, Olga, Milic Rasic, Vedrana, Brankovic, Vesna, Kosac, Ana, Djokic, Olivera, Jakšic, Vesna, Pepic, Ana, Martinovic, Jelena, Munell Casadesus, Francina, Tizzano, Eduardo, Martín Begué, Nieves, Wolley Dod, Charlotte, Subira, Olaia, Planas Pascual, Bernat, Toro Tamargo, Esther, Madruga Garrido, Marcos, Medina Romero, José David, Salinas, Marta Peña, Nascimento Osorio, Andrés, Díaz Cortés, Ana, Jiménez Gañan, Enrique, Suh, Simone Dowon, Medina Cantillo, Julita, Moya, Obdulia, Padros, Nuria, Urraca, Sandra Roca, Valdivia, Hugo Gonzalez, Pascual Pascual, Samuel, de Manuel, Sofía, Martin, Susana Noval, Burnham, Paul, Espinosa, Sandra, Moreno, Mercedes Martinez, Topaloglu, Haluk, Oncel, Ibrahim, Eroglu Ertugru, Nesibe, Konuskan, Bahadir, Eldem, Bora, Kadayifçilar, Sibel, Alemdaroglu, Ipek, Karaduman, Aynur Ayse, Yilmaz, Oznur Tunca, Bilgin, Neslihan, Sari, Seher, Chiriboga, Claudia, Lee, John J., Rome-Martin, Donnielle, Day, John W., Beres, Shannon, Duong, Tina, Gee, Richard, Dunaway Young, Sally, Fuerst-Recktenwald, Sabine, Marquet, Anne, Muelhardt, Nicoletta, Trundell, Dylan, Mazzone, Elena S, Nascimento, Andres, Gerber, Marianne, Gorni, Ksenija, Khwaja, Omar, Kletzl, Heidemarie, Scalco, Renata S, Staunton, Hannah, Yeung, Wai Yin, Martin, Carmen, Fontoura, Paulo, and Day, John W

Published
2022
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19. Co-developing The Canadian MPS Registry: A longitudinal rare disease patient registry

Author

Mitchell, John J., primary, Inbar-Feigenberg, Michal, additional, Angel, Kim, additional, Chakraborty, Pranesh, additional, Lamoureux, Monica, additional, Adams, John, additional, Potter, Beth K., additional, Stockler-Ipsirolgu, Sylvia, additional, Howie, Alison H., additional, Pace, Alex, additional, Butcher, Nancy J., additional, Greenberg, Cheryl, additional, Hayeems, Robin, additional, Laberge, Anne-Marie, additional, Round, Jeff, additional, Offringa, Martin, additional, Oskoui, Maryam, additional, Ruth, Chelsea, additional, Schulze, Andreas, additional, Speechley, Kathy, additional, Thavorn, Kednapa, additional, Trakadis, Yannis, additional, Wilson, Kumanan, additional, and Lacaze, Thierry, additional

Published
2024
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20. Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go

Author

Adoukonou, Thierry, Aryani, Omid, Barisic, Nina, Bashiri, Fahad, Bastaki, Laila, Benitto, Afaf, Omran, Tawfeg Ben, Bernert, Guenther, Bertini, Enrico, Borde, Patricia, Born, Peter, Boustani, Rose-Mary, Butoianu, Nina, Castiglioni, Claudia, Catibusic, Feriha, Chan, Sophelia, Chien, Yin Hsiu, Christodoulou, Kyproula, Dejsuphong, Donniphat, Farrar, Michelle, Filip, Duma, Goemans, Nathalie, Guinhouya, Kokou, Haberlova, Jana, Hadzsiev, Kinga, Hovhannesyan, Kristine, Isohanni, Pirjo, Radovic, Nelica Ivanovic, Jacquier, David, Jalloh, Alusine, Jedrzejowska, Maria, Kandawasvika, Gwen, Kaputu, Celestin, Kawatu, Nfwama, Kernohan, Kristin, Kirschner, Jan, Klink, Barbara, Kodsy, Sherry, Kouame-Assouan, Ange-Eric, Kravljanac, Ruzica, Kreile, Madara, Litvinenko, Ivan, McMillan, Hugh, Mesa, Sandra, Mohamed, Inaam, Kanzoska, Liljana Muaremoska, Nevo, Yoram, Nguefack, Seraphin, Nkole, Kafula, O'Grady, Gina, O'Rourke, Declan, Oskoui, Maryam, Piazzon, Flavia, Poddighe, Dimitri, Prasauskiene, Audrone, Prieto, Juan, Rasmussen, Magnhild, Razafindrasata, Santara, Saha, Narayan, Saito, Kayoko, Sakadi, Foksouna, Sangare, Modibo, Schroth, Mary, Shalkevich, Leanid, Shatillo, Andriy, Suthar, Renu, Szabo, Lena, Tatishvili, Nana, Tazir, Meriem, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Mar, van der Pol, Ludo, Vazquez, Gabriel, Vlodavets, Dimitry, Wanigasinghe, Jithangi, Wilmshurst, Jo, Xiong, Hui, Zafeiriou, Dimitrios, Zamba, Eleni, Dangouloff, Tamara, Vrščaj, Eva, Servais, Laurent, and Osredkar, Damjan

Published
2021
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21. A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)

Author

Martí, Yasmina, Aponte Ribero, Valerie, Batson, Sarah, Mitchell, Stephen, Gorni, Ksenija, Gusset, Nicole, Oskoui, Maryam, Servais, Laurent, Deconinck, Nicolas, McGrattan, Katlyn Elizabeth, Mercuri, Eugenio, and Sutherland, C. Simone

Abstract

Respiratory and bulbar dysfunctions (including swallowing, feeding, and speech functions) are key symptoms of spinal muscular atrophy (SMA), especially in its most severe forms. Demonstrating the long-term efficacy of disease-modifying therapies (DMTs) necessitates an understanding of SMA natural history. This study summarizes published natural history data on respiratory, swallowing, feeding, and speech functions in patients with SMA not receiving DMTs. Electronic databases (Embase, MEDLINE, and Evidence-Based Medicine Reviews) were searched from database inception to June 27, 2022, for studies reporting data on respiratory and/or bulbar function outcomes in Types 1–3 SMA. Data were extracted into a predefined template and a descriptive summary of these data was provided. Ninety-one publications were included: 43 reported data on respiratory, swallowing, feeding, and/or speech function outcomes. Data highlighted early loss of respiratory function for patients with Type 1 SMA, with ventilatory support typically required by 12 months of age. Patients with Type 2 or 3 SMA were at risk of losing respiratory function over time, with ventilatory support initiated between the first and fifth decades of life. Swallowing and feeding difficulties, including choking, chewing problems, and aspiration, were reported in patients across the SMA spectrum. Swallowing and feeding difficulties, and a need for non-oral nutritional support, were reported before 1 year of age in Type 1 SMA, and before 10 years of age in Type 2 SMA. Limited data relating to other bulbar functions were collated. Natural history data demonstrate that untreated patients with SMA experience respiratory and bulbar function deterioration, with a more rapid decline associated with greater disease severity. This study provides a comprehensive repository of natural history data on bulbar function in SMA, and it highlights that consistent assessment of outcomes in this area is necessary to benefit understanding and approval of new treatments.

Published
2024
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22. Reldesemtiv in Patients with Spinal Muscular Atrophy: a Phase 2 Hypothesis-Generating Study

Author

Rudnicki, Stacy A., Andrews, Jinsy A., Duong, Tina, Cockroft, Bettina M., Malik, Fady I., Meng, Lisa, Wei, Jenny, Wolff, Andrew A., Genge, Angela, Johnson, Nicholas E., Tesi-Rocha, Carolina, Connolly, Anne M., Darras, Basil T., Felice, Kevin, Finkel, Richard S., Shieh, Perry B., Mah, Jean K., Statland, Jeffrey, Campbell, Craig, Habib, Ali A., Kuntz, Nancy L., Oskoui, Maryam, and Day, John W.

Published
2021
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23. Current Referral Practices for Diagnosis and Intervention for Children with Cerebral Palsy: A National Environmental Scan

Author

Bergman, Howard, Burko, Benjamin, Dagenais, Emmanuelle, Dagenais, Lynn, Darsaklis, Vasiliki Betty, Leduc, Denis, Li, Patricia, Shiller, Mitchell, Snider, Laurie, Thibault, Julie, Ahmed, Sara, Bussières, André, Rodriguez, Rosario, Shikako Thomas, Keiko, Boychuck, Zachary, Andersen, John, Fehlings, Darcy, Kirton, Adam, Oskoui, Maryam, Shevell, Michael, and Majnemer, Annette

Published
2020
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25. Sunfish parts 1 and 2: 4-year efficacy and safety data of risdiplam in types 2 and 3 spinal muscular atrophy (SMA)

Author

Oskoui, Maryam, primary, Deconinck, Nicolas, additional, Mazzone, Elena S., additional, Nascimento, Andres, additional, Day, John W., additional, Saito, Kayoko, additional, Vuillerot, Carole, additional, Baranello, Giovanni, additional, Boespflug-Tanguy, Odile, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Kostera-Pruszczyk, Anna, additional, Servais, Laurent, additional, Braid, Jessica, additional, Gerber, Marianne, additional, Gorni, Ksenija, additional, Martin, Carmen, additional, Yeung, Wai Yin, additional, Scalco, Renata S., additional, and Mercuri, Eugenio, additional

Published
2023
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26. Feasibility of a home-based exergame therapy for youth with spinal muscular atrophy

Author

Iraqi, Ihsane, primary, Selby, Kathy, additional, Herzig, David, additional, Cardiff, Katrina, additional, Cushen, Niamh, additional, Defosses, Yan, additional, Gonorazky, Hernan, additional, Gottowik, Juergen, additional, Haldenby, Renee, additional, Jurisic, Ivan, additional, Karthigesu, Shaainthabie, additional, Macintyre, Leigh, additional, Mackenzie, Alex, additional, Mah, Jean, additional, Mccullough, James, additional, Ng, Pamela, additional, Opalka, Slawomir, additional, Openchowski, Michal, additional, Petkun, Svetlana, additional, Potter, Beth, additional, Sheriko, Jordan, additional, Smith, Maureen, additional, Strahm, Martin, additional, Desilets, Sarah Turgeon, additional, Woof, Angelina, additional, Chen, Xing, additional, and Oskoui, Maryam, additional

Published
2023
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31. The emerging spectrum of neurodevelopmental comorbidities in early-onset Spinal Muscular Atrophy

Author

Baranello, Giovanni, primary, Roy, Susana Quijano, additional, Servais, Laurent, additional, Munell, Francina, additional, Molinero, Mireia Alvarez, additional, Natera de Benito, Daniel, additional, Nascimento, Andres, additional, Gomez-Andres, David, additional, Comellas, Laura Costa, additional, Exposito, Jessica, additional, Tizzano, Eduardo F., additional, Cuppen, Inge, additional, Van der Pol, Ludo, additional, Aleman, Alberto, additional, Lochmuller, Hanns, additional, McMillan, Hugh, additional, Kirschner, Janbernd, additional, Müller, Cornelia, additional, Oskoui, Maryam, additional, Masson, Riccardo, additional, Bruno, Claudio, additional, Gonorazky, Hernan D., additional, Tesi-Rocha, Carolina, additional, Yaworski, Amanda Marie, additional, Zanoteli, Edmar, additional, Mendonca, Rodrigo, additional, D'Amico, Adele, additional, Cumbo, Francesca, additional, Tosi, Michele, additional, Pane, Marika, additional, Mercuri, Eugenio, additional, Nardes, Flavia, additional, Prufer, Alexandra, additional, Arci, Brenda Klemm, additional, Pascual, Samuel Ignacio, additional, Fattal-Valevski, Aviva, additional, De Waele, Liesbeth, additional, Deconinck, Nicolas, additional, Farrar, Michelle, additional, Haberlova, Jana, additional, Gomez-Garcia de la Banda, Marta, additional, Childs, Anne-Marie, additional, Martos, Cristina, additional, Wraige, Elizabeth, additional, Gowda, Vasantha, additional, Illingworth, Marjorie, additional, Ong, Min, additional, Majundar, Anirban, additional, Hughes, Imelda, additional, Torne, Krupa, additional, Willis, Tracey, additional, Ramdas, Sithara, additional, De Goede, Christian, additional, Erbas, Yasemin, additional, Brusa, Chiara, additional, Scoto, Mariacristina, additional, and Muntoni, Francesco, additional

Published
2023
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34. Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review

Author

Mugisha Nancy, Oliveira-Carneiro Andrea, Behlim Tarannum, and Oskoui Maryam

Subjects
Neurology, Neurology (clinical)
Abstract

Background: 5q Spinal Muscular Atrophy (SMA) is a prototypical lower motor neuron disorder. However, the characteristic early motor impairment raises the question on the scope of brain involvement with implications for further investigations on the brain as a potential therapeutic target. Objective: To review changes across the SMA clinical spectrum reported on brain magnetic resonance imaging (MRI). Methods: We conducted a scoping review of existing literature on PubMed and EMBASE. Two reviewers searched and retrieved relevant articles on magnetic resonance brain imaging in individuals with SMA censoring to April 2022. Full-text articles published in peer-reviewed journals or abstracts accepted to conferences in English and French were included. Results: Twelve articles were identified describing a total of 39 patients [age range: 11 days to 41 years old, type 0 (n = 5), type 1 (n = 4), type 2 (n = 2), type 3 (n = 22), type 4 (n = 6)]. All reported structural changes and did not explore other MRI modalities. In individuals with infantile onset SMA, cortical and subcortical brain abnormalities in white matter, basal ganglia, thalamus, hippocampus, and high intensity areas around lateral ventricles and thalami were reported over time. In individuals with later-onset SMA, reduced cerebellar and lobular volume were observed as well as increased grey matter density in motor areas. Conclusions: Limited data on brain imaging in SMA highlights both cortical and subcortical involvement in SMA, supporting the hypothesis that changes are not restricted to lower motor neuron pathways. Further studies are needed to determine the extent and prevalence of structural and functional brain changes across SMA types.

Published
2023

39. The emerging spectrum of foetal acetylcholine receptor antibody-associated disorders (FARAD)

Author

Allen, Nicholas M, primary, O’Rahelly, Mark, additional, Eymard, Bruno, additional, Chouchane, Mondher, additional, Hahn, Andreas, additional, Kearns, Gerry, additional, Kim, Dae-Seong, additional, Byun, Shin Yun, additional, Nguyen, Cam-Tu Emilie, additional, Schara-Schmidt, Ulrike, additional, Kölbel, Heike, additional, Della Marina, Adela, additional, Schneider-Gold, Christiane, additional, Roefke, Kathryn, additional, Thieme, Andrea, additional, Van den Bergh, Peter, additional, Avalos, Gloria, additional, Álvarez-Velasco, Rodrigo, additional, Natera-de Benito, Daniel, additional, Cheng, Man Hin Mark, additional, Chan, Wing Ki, additional, Wan, Hoi Shan, additional, Thomas, Mary Ann, additional, Borch, Lauren, additional, Lauzon, Julie, additional, Kornblum, Cornelia, additional, Reimann, Jens, additional, Mueller, Andreas, additional, Kuntzer, Thierry, additional, Norwood, Fiona, additional, Ramdas, Sithara, additional, Jacobson, Leslie W, additional, Jie, Xiaobo, additional, Fernandez-Garcia, Miguel A, additional, Wraige, Elizabeth, additional, Lim, Ming, additional, Lin, Jean Pierre, additional, Claeys, Kristl G, additional, Aktas, Selma, additional, Oskoui, Maryam, additional, Hacohen, Yael, additional, Masud, Ameneh, additional, Leite, M Isabel, additional, Palace, Jacqueline, additional, De Vivo, Darryl, additional, Vincent, Angela, additional, and Jungbluth, Heinz, additional

Published
2023
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40. Heterogeneous use of registry data for participant identification and primary outcome ascertainment is found in registry-based randomized controlled trials: A scoping review

Author

Baba, Ami, primary, Tay, Joanne, additional, Sammy, Adrian, additional, Douglas, William A., additional, Goren, Katherine, additional, Krause, Karolin R., additional, Howie, Alison H., additional, Little, Julian, additional, Oskoui, Maryam, additional, Taljaard, Monica, additional, Thombs, Brett D., additional, Potter, Beth K., additional, Butcher, Nancy J., additional, and Offringa, Martin, additional

Published
2023
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41. SUNFISH Parts 1 and 2: 4-year Efficacy and Safety Data of Risdiplam in Types 2 and 3 Spinal Muscular Atrophy (SMA) (S34.009)

Author

Servais, Laurent, primary, Oskoui, Maryam, additional, Day, John, additional, Deconinck, Nicholas, additional, Mazzone, Elena, additional, Nascimento, Andrés, additional, Saito, Kyoko, additional, Vuillerot, Carole, additional, Baranello, Giovanni, additional, Boespflug-Tanguy, Odile, additional, Goemans, Nathalie, additional, Kirschner, Janbernd, additional, Kostera-Pruszczyk, Anna, additional, Braid, Jessica, additional, Papp, Gergely, additional, Gorni, Ksenija, additional, Martin, Carmen, additional, Scalco, Renata, additional, Yeung, Wai Yin, additional, and Mercuri, Eugenio, additional

Published
2023
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43. Whole Genome Sequencing to Resolve the Genomic Architecture of Cerebral Palsy in a Canadian Cohort (P13-9.003)

Author

Oskoui, Maryam, primary, Zarrei, Mehdi, additional, Engchuan, Worrawat, additional, Sondheimer, Neal, additional, Thiruv, Bhooma, additional, Higginbotham, Edward, additional, Thapa, Ritesh, additional, Behlim, Tarannum, additional, Aimola, Sabrina, additional, Wei, John, additional, Danthi, Prakroothi, additional, Pellecchia, Giovanna, additional, Ho, Karen, additional, de Rijke, Jill, additional, Howe, Jennifer, additional, Nalpathamkalam, Thomas, additional, Manshaei, Roozbeh, additional, Whitney, Joseph, additional, Patel, Rohan, additional, Hamdan, Omar, additional, Shaath, Rulan, additional, Knights, Shannon, additional, Trost, Brett, additional, Samdup, Dawa, additional, MCCORMICK, ANNA, additional, Hunt, Carolyn, additional, Kirton, Adam, additional, Kawamura, Anne, additional, Mesterman, Ronit, additional, Gorter, Jan Willem, additional, Dlamini, Nomazulu, additional, Merico, Daniele, additional, Yuen, Ryan, additional, Shevell, Michael, additional, Stavropoulos, Dimitri, additional, Wintle, Richard, additional, Fehlings, Darcy, additional, and Scherer, Stephen, additional

Published
2023
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44. Feasibility of a Home-Based Exergame Therapy for Youth with Spinal Muscular Atrophy (P7-9.005)

Author

Oskoui, Maryam, primary, Selby, Kathy, additional, Herzig, David, additional, Cardiff, Katrina, additional, Cushen, Niamh, additional, Defosses, Yan, additional, Gonorazky, Hernan, additional, Gottowik, Juergen, additional, Haldenby, Renee, additional, Jurisic, Ivan, additional, Karthigesu, Shaainthabie, additional, MacIntyre, Leigh, additional, MacKenzie, Alex, additional, Mah, Jean, additional, McCullough, James, additional, Ng, Pamela, additional, Opalka, Slawomir, additional, Openchowski, Michal, additional, Petkun, Svetlana, additional, Potter, Beth, additional, Sheriko, Jordan, additional, Smith, Maureen, additional, Strahm, Martin, additional, Desilets, Sarah Turgeon, additional, Woof, Angelina, additional, and Chen, Xing, additional

Published
2023
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47. Variability in Newborn Screening Across Canada: Spinal Muscular Atrophy and Beyond

Author

Groulx-Boivin, Emilie, Osman, Homira, Chakraborty, Pranesh, Lintern, Stacey, Oskoui, Maryam, Selby, Kathryn, Van Caeseele, Paul, Wyatt, Alexandra, and McMillan, Hugh J.

Abstract

ABSTRACT:Background:Newborn screening (NBS) identifies infants with severe, early-onset diseases, enabling early diagnosis and treatment. In Canada, decisions regarding disease inclusion in NBS programs occur at the provincial level, which leads to variability in patient care. We aimed to determine whether important differences exist in NBS programs across provinces and territories. Given that spinal muscular atrophy (SMA) is the most recent disease added to NBS programs, we hypothesized that its inclusion would show interprovincial variability and be more likely in provinces already screening for a greater number of diseases.Methods:We conducted a cross-sectional survey of all NBS labs in Canada to understand: 1) what conditions were included in their program; 2) what genetic-based testing was performed and; 3) if SMA was included.Results:All NBS programs (N= 8) responded to this survey by June 2022. There was a 2.5-fold difference in the number of conditions screened (N= 14 vs N= 36) and a 9-fold difference in the number of conditions screened by gene-based testing. Only nine conditions were common to all provincial NBS programs. NBS for SMA was performed in four provinces at the time of our survey, with BC recently becoming the fifth province to add SMA to their NBS on October 1, 2022. Currently, 72% of Canadian newborns are screened for SMA at birth.Conclusion:Although healthcare in Canada is universal, its decentralization gives rise to regional differences in NBS programs which creates inequity in the treatment, care, and potential outcomes of affected children across provincial jurisdictions.

Published
2024
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50. Practice guideline update summary: Pharmacologic treatment for pediatric migraine prevention: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Headache Society

Author

Oskoui, Maryam, Pringsheim, Tamara, Billinghurst, Lori, Potrebic, Sonja, Gersz, Elaine M., Gloss, David, Holler-Managan, Yolanda, Leininger, Emily, Licking, Nicole, Mack, Kenneth, Powers, Scott W., Sowell, Michael, Victorio, M. Cristina, Yonker, Marcy, Zanitsch, Heather, and Hershey, Andrew D.

Published
2019
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