Search

Your search keyword '"Dunaway, Sally"' showing total 42 results
Start Over Author "Dunaway, Sally"
42 results on '"Dunaway, Sally"'

1. Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

Author

Mercuri, Eugenio, Finkel, Richard, Montes, Jacqueline, Mazzone, Elena S., Sormani, Maria Pia, Main, Marion, Ramsey, Danielle, Mayhew, Anna, Glanzman, Allan M., Dunaway, Sally, Salazar, Rachel, Pasternak, Amy, Quigley, Janet, Pane, Marika, Pera, Maria Carmela, Scoto, Mariacristina, Messina, Sonia, Sframeli, Maria, Vita, Gian Luca, D'Amico, Adele, van den Hauwe, Marleen, Sivo, Serena, Goemans, Nathalie, Kaufmann, Petra, Darras, Basil T., Bertini, Enrico, Muntoni, Francesco, and De Vivo, Darryl C.

Published
2016
Full Text
View/download PDF

5. OLD MEASURES AND NEW SCORES IN SPINAL MUSCULAR ATROPHY PATIENTS

Author

MAZZONE, ELENA, MONTES, JACQUELINE, MAIN, MARION, MAYHEW, ANNA, RAMSEY, DANIELLE, GLANZMAN, ALLAN M., DUNAWAY, SALLY, SALAZAR, RACHEL, PASTERNAK, AMY, QUIGLEY, JANET, PANE, MARIKA, PERA, MARIA C., SCOTO, MARIACRISTINA, MESSINA, SONIA, SFRAMELI, MARIA, DʼAMICO, ADELE, VAN DEN HAUWE, MARLEEN, SIVO, SERENA, GOEMANS, NATHALIE, DARRAS, BASIL T., KAUFMANN, PETRA, BERTINI, ENRICO, DE VIVO, DARRYL C., MUNTONI, FRANCESCO, FINKEL, RICHARD, and MERCURI, EUGENIO

Published
2015
Full Text
View/download PDF

9. Observational Study of Spinal Muscular Atrophy Type 2 and 3: Functional Outcomes Over 1 Year

Author

Kaufmann, Petra, McDermott, Michael P., Darras, Basil T., Finkel, Richard, Kang, Peter, Oskoui, Maryam, Constantinescu, Andrei, Sproule, Douglas Michael, Foley, A. Reghan, Yang, Michele, Tawil, Rabi, Chung, Wendy, Martens, Bill, Montes, Jacqueline, O’Hagen, Jessica, Dunaway, Sally, Flickinger, Jean M., Quigley, Janet, Riley, Susan, Glanzman, Allan M., Benton, Maryjane, Ryan, Patricia A., Irvine, Carrie, Annis, Christine L., Butler, Hailly, Caracciolo, Jayson, Montgomery, Megan, Marra, Jonathan, Koo, Benjamin, and De Vivo, Darryl C.

Published
2011
Full Text
View/download PDF

11. Nusinersen versus sham control in later-onset spinal muscular atrophy

Author

Vogt, Sibylle, Krueger, Marcus, Pechmann, Astrid, Rippberger, Bianca, Eckenweiler, Matthias, Schara, Ulrike, Koelbel, Heike, Andres, Barbara, Rupprich, Katrin, Gangfuss, Andrea, Jachertz, Philipp, Della Marina, Adela, Sponemann, Nina, Pane, Markia, Palermo, Concetta, Piastra, Marco, Fanelli, Lavinia, de Sanctis, Roberto, Genovese, Orazio, Antonaci, Laura, Pera, Maria Carmela, Lamendola, Priscilla, Messina, Sonia, Vita, Gianluca, Di Bella, Vincenzo, Sframeli, Maria, Rosa, Matteo, Barcellona, Costanza, Distefano, Maria Grazia, Cavallaro, Filippo, Versaci, Antonio, de Luca, Francesco, Vita, Giuseppe, Nacimento Osorio, Andres, Tizzano, Eduardo, Ortez Gonzalez, Carlos Ignacio, Ortigoza Escobar, Juan Dario, Colomer Oferil, Juame, Medina Cantillo, Julita, Febrer Rotger, Anna, Vigo Morancho, Meritxell, Eldblom, Johanneh, Darin, Niklas, Kroksmark, Anna Karin, Lindstedt, Asa, Michael, Eva, Kimber, Eva, Wahlgren, Lisa, Chan, Sophelia Hoi-Shan, Chim, Stella, Chiu, Joseph, Ho, Alvin Chi Chung, Ip, Jing Kun Janice, Lam, Wendy Wai Man, Ng, Maggie Chui-San, Wan, Connie, Wong, Virginia Chun Nei, Yue, Yvonne, Arakawa, Reiko, Yamauchi, Akemi, Nagata, Satoru, Ito, Yasushi, Nakatsukasa, Hidetsugu, Takeshita, Akiko, Hirasawa, Kyoko, Ikai, Tetsuo, Eto, Kaoru, Otamni, Yui, Takeshima, Yasuhiro, Fukuda, Noroki, Tanaka, Yasuhiro, Shimomura, Hideki, Lee, Tomoko, Shibano, Takayuki, Mercuri, E., Tachikawa, Tomohiro, Darras, B. T., Chae, Jong-Hee, Chiriboga, C. A., Lim, Byung Chan, Day, J. W., Shin, Hyung-Ik, Campbell, C., Kim, Soo Yeon, Connolly, A. M., Choi, Sun Ah, Iannaccone, S. T., Son, Woo Sung, Kirschner, J., Jo, Hyemi, Kuntz, N. L., Chun, Seong Min, Saito, K., Kim, Hyuna, Shieh, P. B., Tulinius, M., Mazzone, E. S., Montes, J., Bishop, K. M., Yang, Q., Foster, R., Gheuens, S., Bennett, C. F., Farwell, W., Schneider, E., de Vivo, D. C., Finkel, R. S., Bradley, Walter G., Kaufmann, Petra, Dickson, Patricia I., Reingold, Stephen C., Davis, Charles S., Arredondo, Kristen, Castro, Diana, Cowie, Margaret, Farrow-Gillespie, Alan, Hebert, Andrew, Kauk, Melissa, Miller, Nancy, Nelson, Leslie, Spain, Thomas, Cappell, Joshua, Constantinescu, Andrei, Cruz, Rosangel, Dastgir, Jahannaz, de Vivo, Darryl, Dunaway, Sally, Engelstad, Kristin, Khandji, Alexander G., Kramer, Samantha, Marra, Jonathan, Popolizio, Molly, Salazar, Rachel, Weimer, Louis H., Aziz-Zaman, Sonya, Lamarca, Nicole, Ghosh, Partha, Al-Ghamdi, Fouad, Liew, Wendy, Graham, Robert, Berde, Charles, Sethna, Navil, Koka, Anjali, Wang, Luke, Laine, Regina, Souris, Michelle, Ordonez, Grace, Harrington, Timothy, Szelag, Heather, Pasternak, Amy, Mirek, Elizabeth, Quigley, Janet, Finkel, Richard, Berry, Debbie, Civitello, Matthew, Endsley, Julie Duke, Eden, Candace, Leon, Wendy, O'Reardon, Kathleen, Sigurdardottir, Laufey, Johnson, Craig, Turner, Jenna, Vega, Melisa, Weber-Guzman, Fabiola, Zinn, Matthias, Rocha, Ana Carolina Tesi, Watson, Karolina, d'Souza, Genevieve, Ramamurthi, R. J., Gee, Richard, Kitsuwa-Lowe, Janis, Hagerman, Katharine, Crasta, Sheela, Welsh, Lesly, Paulose, Shirley, Mcfall, Danielle, Perez, Jennifer, Patnaik, Swetapadma, Sanjanwala, Bharati, Sakamuri, Sarada, Proud, Crystal, Purse, Bona Park, Duong, Trinh Tina, Sampson, Jacinda, Tennekoon, Gihan, Brandsema, John, Glanzman, Allan, Flickinger, Jean, Toms, Michele, Adang, Laura, Stanford, Delores, Mayer, Oscar, Zigmont, Joshua, Chadehumbe, Madeline, Kichula, Elizabeth, Finanger, Erika, Russman, Barry, Roberts, Colin, Frank, Andrea, Benjamin, Danielle, Zilke, Kirsten, Golumbek, Paul T., Zaidman, Craig M., Anand, Pallavi, Gadeken, Rebecca, Siener, Catherine, Kuntz, Nancy, Epstein, Leon, Krueger, Jena, Goldman, Stewart, Krosschell, Kristin, Blomgren, Colleen, Choi, Hyoung Won, Kurz, Jonathan, Parsons, Julie, Janas, Joanne, Yang, Michele, Ballard, Alison, Carry, Terri, Shea, Stephanie, Bielsky, Alan, Booker, Kaylee, Camuto, Alicia, Lord-Halvorson, Sierra, Gibbons, Melissa, Zimmerman, Carl, Allen, Victoria, Fuhr, Peter, Johnson, Hannah, Tran, Vi, Vanderveen, Gina, Shieh, Perry, Fowler, Eileen, Parziale, Nicholas, Rao, Lekha, Skura, Christy, Kelley, Carolyn, Shu, Francy, Oskoui, Maryam, Zielinski, David, Poulin, Chantal, Ingelmo, Pablo Mauricio, Desilets, Sarah Turgeon, Dinunzio, Pamela, Rivera, Gonzalo, Srour, Myriam, Arpin, Stephanie, Goobie, Sharan, Gibson, Paul, Scholtes, Cheryl, Mcdonald, Wendy, Zapata, Eugenio, Nguyen, Cam-Tu Emilie, Servais, Laurent, Gargaun, Elena, Le Moing, Anne-Gaelle, Gidaro, Teresa, Vialle, Raphael, Guye, Marie-Laurence, Lilien, Charlotte, Olliver, Gwenn, Gilabert, Stephanie, Borell, Sabine, Wider, Sabine, Stein, Sabine, Universität Duisburg-Essen = University of Duisburg-Essen [Essen], Department of Paediatrics, Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), Vall d'Hebron University Hospital [Barcelona], CIBER de Enfermedades Raras (CIBERER), Handicaps génétiques de l'enfant (Inserm U393), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Seoul National University Hospital, Max-Planck-Institut für Mikrostrukturphysik (MPI-HALLE), Max-Planck-Gesellschaft, The University of Tokyo (UTokyo), Institut de Chimie Organique et Analytique (ICOA), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université d'Orléans (UO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Institute of Plasma Physics, Chinese Academy of Sciences (ASIPP), Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Laboratoire de mécanique des solides (LMS), École polytechnique (X)-Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), CureSMA [Elk Grove Village, IL, USA], Harvard Medical School [Boston] (HMS), Institute for Marine and Antarctic Studies [Hobart] (IMAS), University of Tasmania [Hobart, Australia] (UTAS), The Hospital for sick children [Toronto] (SickKids), University of Toronto, The Open University [Milton Keynes] (OU), Department of Pediatrics, Feinberg School of Medicine, Northwestern University [Evanston]-Northwestern University [Evanston]-Northwestern University, University Hospital Basel [Basel], McGill University Health Center [Montreal] (MUHC), Service de génétique [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Service of Clinical Trials and Databases, Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Amiens-Picardie, Groupe de Recherche sur l'Analyse Multimodale de la Fonction Cérébrale - UMR INSERM_S 1105 (GRAMFC), Université de Picardie Jules Verne (UPJV)-CHU Amiens-Picardie-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University of Oxford, Schara, Ulrike (Beitragende*r), Koelbel, Heike (Beitragende*r), Rupprich, Katrin (Beitragende*r), Gangfuss, Andrea (Beitragende*r), Della Marina, Adela (Beitragende*r), and Sponemann, Nina (Beitragende*r)

Subjects
0301 basic medicine, Male, [SDV]Life Sciences [q-bio], spinal, Medizin, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Pediatrics, law.invention, Age of Onset, Child, Child, Preschool, Double-Blind Method, Female, Humans, Infant, Injections, Spinal, Least-Squares Analysis, Motor Skills, Oligonucleotides, Antisense, Medicine (all), 0302 clinical medicine, age of onset, Randomized controlled trial, law, Clinical endpoint, inglese, injections, Motor skill, motor skills, General Medicine, SMA, Settore MED/26 - NEUROLOGIA, medicine.anatomical_structure, female, Anesthesia, Nusinersen, Spinal, antisense, preschool, Injections, 03 medical and health sciences, least-squares analysis, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Settore MED/41 - ANESTESIOLOGIA, medicine, Antisense, Preschool, business.industry, Spinal muscular atrophy, Motor neuron, medicine.disease, 030104 developmental biology, Age of onset, business, 030217 neurology & neurosurgery
Abstract

Background: Nusinersen is an antisense oligonucleotide drug that modulates pre–messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). Methods: We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274. The primary end point was the least-squares mean change from baseline in the Hammersmith Functional Motor Scale–Expanded (HFMSE) score at 15 months of treatment; HFMSE scores range from 0 to 66, with higher scores indicating better motor function. Secondary end points included the percentage of children with a clinically meaningful increase from baseline in the HFMSE score (≥3 points), an outcome that indicates improvement in at least two motor skills. Results: In the prespecified interim analysis, there was a least-squares mean increase from baseline to month 15 in the HFMSE score in the nusinersen group (by 4.0 points) and a least-squares mean decrease in the control group (by –1.9 points), with a significant between-group difference favoring nusinersen (least-squares mean difference in change, 5.9 points; 95% confidence interval, 3.7 to 8.1; P Conclusions: Among children with later-onset SMA, those who received nusinersen had significant and clinically meaningful improvement in motor function as compared with those in the control group. (Funded by Biogen and Ionis Pharmaceuticals; CHERISH ClinicalTrials.gov number, NCT02292537. opens in new tab.)

Published
2018

12. Additional file 1: of Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

Author

Pera, Maria, Coratti, Giorgia, Forcina, Nicola, Mazzone, Elena, Mariacristina Scoto, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Messina, Sonia, Sframeli, Maria, Main, Marion, Lofra, Robert, Duong, Tina, Ramsey, Danielle, Dunaway, Sally, Salazar, Rachel, Fanelli, Lavinia, Civitello, Matthew, Sanctis, Roberto De, Antonaci, Laura, Lapenta, Leonardo, Lucibello, Simona, Pane, Marika, Day, John, Darras, Basil, Vivo, Darryl De, Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Abstract

Questionnaire provided to the carers. Sample of the questionnaire submitted to the carers. (DOCX 19 kb)

Published
2017
Full Text
View/download PDF

13. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

Author

Pera, Maria C., primary, Coratti, Giorgia, additional, Forcina, Nicola, additional, Mazzone, Elena S., additional, Scoto, Mariacristina, additional, Montes, Jacqueline, additional, Pasternak, Amy, additional, Mayhew, Anna, additional, Messina, Sonia, additional, Sframeli, Maria, additional, Main, Marion, additional, Lofra, Robert Muni, additional, Duong, Tina, additional, Ramsey, Danielle, additional, Dunaway, Sally, additional, Salazar, Rachel, additional, Fanelli, Lavinia, additional, Civitello, Matthew, additional, de Sanctis, Roberto, additional, Antonaci, Laura, additional, Lapenta, Leonardo, additional, Lucibello, Simona, additional, Pane, Marika, additional, Day, John, additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, Muntoni, Francesco, additional, Finkel, Richard, additional, and Mercuri, Eugenio, additional

Published
2017
Full Text
View/download PDF

16. Physical therapy services received by individuals with spinal muscular atrophy (SMA)

Author

Dunaway, Sally, primary, Montes, Jacqueline, additional, McDermott, Michael P., additional, Martens, William, additional, Neisen, Annie, additional, Glanzman, Allan M., additional, Pasternak, Amy, additional, Riley, Susan, additional, Sproule, Douglas, additional, Chiriboga, Claudia, additional, Finkel, Richard, additional, Tennekoon, Gihan, additional, Darras, Basil, additional, De Vivo, Darryl, additional, and Pandya, Shree, additional

Published
2016
Full Text
View/download PDF

17. Single-Blind, Randomized, Controlled Clinical Trial of Exercise in Ambulatory Spinal Muscular Atrophy: Why are the Results Negative?

Author

Montes, Jacqueline, primary, Garber, Carol Ewing, additional, Kramer, Samantha S., additional, Montgomery, Megan J., additional, Dunaway, Sally, additional, Kamil-Rosenberg, Shirit, additional, Carr, Brendan, additional, Cruz, Rosangel, additional, Strauss, Nancy E., additional, Sproule, Douglas, additional, and De Vivo, Darryl C., additional

Published
2015
Full Text
View/download PDF

19. Rasch analysis of the Pediatric Evaluation of Disability Inventory-computer adaptive test (PEDI-CAT) item bank for children and young adults with spinal muscular atrophy.

Author

Pasternak, Amy, Sideridis, Georgios, Fragala‐Pinkham, Maria, Glanzman, Allan M., Montes, Jacqueline, Dunaway, Sally, Salazar, Rachel, Quigley, Janet, Pandya, Shree, O'Riley, Susan, Greenwood, Jonathan, Chiriboga, Claudia, Finkel, Richard, Tennekoon, Gihan, Martens, William B., McDermott, Michael P., Fournier, Heather (Szelag), Madabusi, Lavanya, Harrington, Timothy, and Cruz, Rosangel E.

Subjects
PSYCHOLOGY of caregivers, FUNCTIONAL assessment, HUMAN locomotion, HEALTH outcome assessment, PEOPLE with disabilities, RESEARCH evaluation, SPINAL muscular atrophy, STATISTICS, ACTIVITIES of daily living, SYMPTOMS, COMPUTER-aided diagnosis, DIAGNOSIS
Abstract

Introduction: In this study we evaluated the suitability of a caregiver-reported functional measure, the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test (PEDI-CAT), for children and young adults with spinal muscular atrophy (SMA).Methods: PEDI-CAT Mobility and Daily Activities domain item banks were administered to 58 caregivers of children and young adults with SMA. Rasch analysis was used to evaluate test properties across SMA types.Results: Unidimensional content for each domain was confirmed. The PEDI-CAT was most informative for type III SMA, with ability levels distributed close to 0.0 logits in both domains. It was less informative for types I and II SMA, especially for mobility skills. Item and person abilities were not distributed evenly across all types.Conclusions: The PEDI-CAT may be used to measure functional performance in SMA, but additional items are needed to identify small changes in function and best represent the abilities of all types of SMA. Muscle Nerve 54: 1097-1107, 2016. [ABSTRACT FROM AUTHOR]

Published
2016
Full Text
View/download PDF

23. A Randomized, Controlled Clinical Trial of Exercise in Patients with Spinal Muscular Atrophy: Methods and Baseline Characteristics

Author

Montes, Jacqueline, primary, Garber, Carol Ewing, additional, Kramer, Samantha S., additional, Montgomery, Megan J., additional, Dunaway, Sally, additional, Kamil-Rosenberg, Shirit, additional, Carr, Brendan, additional, Strauss, Nancy E., additional, Sproule, Douglas, additional, and De Vivo, Darryl C., additional

Published
2014
Full Text
View/download PDF

24. Weakness and Fatigue in Diverse Neuromuscular Diseases

Author

Montes, Jacqueline, primary, Blumenschine, Michelle, additional, Dunaway, Sally, additional, Alter, Aliza S., additional, Engelstad, Kristin, additional, Rao, Ashwini K., additional, Chiriboga, Claudia A., additional, Sproule, Douglas M., additional, and Vivo, Darryl C. De, additional

Published
2013
Full Text
View/download PDF

26. A Description of Physical Therapy Services Received by Patients Diagnosed with Spinal Muscular Atrophy (SMA) (P03.050)

Author

Dunaway, Sally, primary, Neisen, Annie, additional, Montes, Jacqueline, additional, Glanzman, Allan, additional, Pasternak, Amy, additional, Riley, Susan, additional, Martens, William, additional, Holuba LaMarca, Nicole, additional, Parad, Rebecca, additional, Shriber, Elizabeth, additional, Sproule, Douglas, additional, Chiriboga, Claudia, additional, Finkel, Richard, additional, Tennekoon, Gihan, additional, Darras, Basil, additional, De Vivo, Darryl, additional, and Pandya, Shree, additional

Published
2013
Full Text
View/download PDF

30. Spinal Muscular Atrophy Type III

Author

Dunaway, Sally, primary, Montes, Jacqueline, additional, Ryan, Patricia A., additional, Montgomery, Megan, additional, Sproule, Douglas M., additional, and Vivo, Darryl C. De, additional

Published
2011
Full Text
View/download PDF

31. Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III

Author

Glanzman, Allan M., primary, O’Hagen, Jessica M., additional, McDermott, Michael P., additional, Martens, William B., additional, Flickinger, Jean, additional, Riley, Susan, additional, Quigley, Janet, additional, Montes, Jacqueline, additional, Dunaway, Sally, additional, Deng, Liyong, additional, Chung, Wendy K., additional, Tawil, Rabi, additional, Darras, Basil T., additional, De Vivo, Darryl C., additional, Kaufmann, Petra, additional, and Finkel, Richard S., additional

Published
2011
Full Text
View/download PDF

32. Thigh Muscle Volume Measured by Magnetic Resonance Imaging Is Stable Over a 6-Month Interval in Spinal Muscular Atrophy

Author

Sproule, Douglas M., primary, Montgomery, Megan J., additional, Punyanitya, Mark, additional, Shen, Wei, additional, Dashnaw, Stephen, additional, Montes, Jacqueline, additional, Dunaway, Sally, additional, Finkel, Richard, additional, Darras, Basil, additional, Vivo, Darryl C. De, additional, and Kaufmann, Petra, additional

Published
2011
Full Text
View/download PDF

33. Validation of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

Author

Glanzman, Allan M., primary, McDermott, Michael P., additional, Montes, Jacqueline, additional, Martens, William B., additional, Flickinger, Jean, additional, Riley, Susan, additional, Quigley, Janet, additional, Dunaway, Sally, additional, O'Hagen, Jessica, additional, Deng, Liyong, additional, Chung, Wendy K., additional, Tawil, Rabi, additional, Darras, Basil T., additional, Yang, Michele, additional, Sproule, Douglas, additional, De Vivo, Darryl C., additional, Kaufmann, Petra, additional, and Finkel, Richard S., additional

Published
2011
Full Text
View/download PDF

35. Content validity and clinical meaningfulness of the HFMSE in spinal muscular atrophy

Author

Pera, Maria C., Coratti, Giorgia, Forcina, Nicola, Mazzone, Elena S., Scoto, Mariacristina, Montes, Jacqueline, Pasternak, Amy, Mayhew, Anna, Messina, Sonia, Sframeli, Maria, Main, Marion, Lofra, Robert Muni, Duong, Tina, Ramsey, Danielle, Dunaway, Sally, Salazar, Rachel, Fanelli, Lavinia, Civitello, Matthew, de Sanctis, Roberto, Antonaci, Laura, Lapenta, Leonardo, Lucibello, Simona, Pane, Marika, Day, John, Darras, Basil T., De Vivo, Darryl C., Muntoni, Francesco, Finkel, Richard, and Mercuri, Eugenio

Subjects
Spinal muscular atrophy, Quality of life, Carers, Clinical trials
Abstract

Background: Reports on the clinical meaningfulness of outcome measures in spinal muscular atrophy (SMA) are rare. In this two-part study, our aim was to explore patients’ and caregivers’ views on the clinical relevance of the Hammersmith Functional Motor Scale Expanded- (HFMSE). Methods: First, we used focus groups including SMA patients and caregivers to explore their views on the clinical relevance of the individual activities included in the HFMSE. Then we asked caregivers to comment on the clinical relevance of possible changes of HFMSE scores over time. As functional data of individual patients were available, some of the questions were tailored according to their functional level on the HFMSE. Results: Part 1: Sixty-three individuals participated in the focus groups. This included 30 caregivers, 25 patients and 8 professionals who facilitated the discussion. The caregivers provided a comparison to activities of daily living for each of the HFMSE items. Part 2: One hundred and forty-nine caregivers agreed to complete the questionnaire: in response to a general question, 72% of the caregivers would consider taking part in a clinical trial if the treatment was expected to slow down deterioration, 88% if it would stop deterioration and 97% if the treatment was expected to produce an improvement. Caregivers were informed of the first three items that their child could not achieve on the HFMSE. In response 75% indicated a willingness to take part in a clinical trial if they could achieve at least one of these abilities, 89% if they could achieve two, and 100% if they could achieve more than 2. Conclusions: Our findings support the use of the HFMSE as a key outcome measure in SMA clinical trials because the individual items and the detected changes have clear content validity and clinical meaningfulness for patients and their caregivers. Electronic supplementary material The online version of this article (doi:10.1186/s12883-017-0790-9) contains supplementary material, which is available to authorized users.

Published
2017
Full Text
View/download PDF

36. Observational study of spinal muscular atrophy type I and implications for clinical trials.

Author

Finkel, Richard S, McDermott, Michael P, Kaufmann, Petra, Darras, Basil T, Chung, Wendy K, Sproule, Douglas M, Kang, Peter B, Foley, A Reghan, Yang, Michelle L, Martens, William B, Oskoui, Maryam, Glanzman, Allan M, Flickinger, Jean, Montes, Jacqueline, Dunaway, Sally, O'Hagen, Jessica, Quigley, Janet, Riley, Susan, Benton, Maryjane, and Ryan, Patricia A

Published
2014
Full Text
View/download PDF

37. Independent Mobility After Early Introduction of a Power Wheelchair in Spinal Muscular Atrophy.

Author

Dunaway, Sally, Montes, Jacqueline, O’Hagen, Jessica, Sproule, Douglas M., Vivo, Darryl C. De, and Kaufmann, Petra

Subjects
*SPINAL muscular atrophy, *MUSCULAR dystrophy, *MUSCULAR dystrophy in children, *MOTOR learning, *INTELLECTUAL development
Abstract

Weakness resulting from spinal muscular atrophy causes severe limitations in functional mobility. The early introduction of power mobility has potential to enhance development and mitigate disability. These outcomes are achieved by simulating normal skill acquisition and by promoting motor learning, visuospatial system development, self-exploration, cognition, and social development. There are few reports on early power mobility in spinal muscular atrophy, and it is typically not prescribed until school age. The authors evaluated 6 children under age 2 years with neuromuscular disease (5 spinal muscular atrophy, 1 congenital muscular dystrophy) for power mobility. Parents recorded the practice hours necessary to achieve independence using the Power Mobility Skills Checklist. Four children achieved independence in all items on the checklist by 7.9 months (range: 73-458 days). Introduction of early power mobility is feasible in spinal muscular atrophy patients under age 2 years and should be introduced in late infancy when children typically acquire locomotor skills. [ABSTRACT FROM AUTHOR]

Published
2013
Full Text
View/download PDF

38. Prospective cohort study of spinal muscular atrophy types 2 and 3.

Author

Kaufmann, Petra, McDermott, Michael P., Darras, Basil T., Finkel, Richard S., Sproule, Douglas M., Kang, Peter B., Oskoui, Maryam, Constantinescu, Andrei, Gooch, Clifton L., Reghan Foley, A., Yang, Michele L., Tawil, Rabi, Chung, Wendy K., Martens, William B., Montes, Jacqueline, Battista, Vanessa, O'Hagen, Jessica, Dunaway, Sally, Flickinger, Jean, and Quigley, Janet

Published
2012
Full Text
View/download PDF

39. Spinal Muscular Atrophy Type III: Trying to Understand Subtle Functional Change Over Time—A Case Report.

Author

Dunaway, Sally, Montes, Jacqueline, Ryan, Patricia A., Montgomery, Megan, Sproule, Douglas M., and Vivo, Darryl C. De

Subjects
*SPINAL muscular atrophy, *NATURAL history, *HEALTH outcome assessment, *MUSCLE strength
Abstract

Spinal muscular atrophy is a relatively stable chronic disease. Patients may gradually experience declines in muscle strength and motor function over time. However, functional progression is difficult to document, and the mechanism remains poorly understood. An 11-year-old girl was diagnosed at 19 months and took a few steps without assistance at 25 months. She was evaluated for 54 months in a prospective multicenter natural history study. Outcome measures were performed serially. From 6 to 7.5 years, motor function improved. From 7.5 to 11 years, motor function declined with increasing growth. Manual muscle testing scores minimally decreased. Motor unit number estimation studies gradually increased over 4.5 years. Compared to the published natural history of spinal muscular atrophy type III, our patient lost motor function over time. However, she walked with assistance 2 years longer than expected. Our report highlights possible precipitating factors that could affect the natural history of spinal muscular atrophy type III. [ABSTRACT FROM PUBLISHER]

Published
2012
Full Text
View/download PDF

40. A Randomized, Controlled Clinical Trial of Exercise in Patients with Spinal Muscular Atrophy: Methods and Baseline Characteristics

Author

Garber, Carol Ewing, Kramer, Samantha S., Montgomery, Megan J., Dunaway, Sally, Kamil-Rosenberg, Shirit, Carr, Brendan, Strauss, Nancy E., Sproule, Douglas, and De Vivo, Darryl C.

Abstract

Background: Spinal Muscular Atrophy (SMA) is a recessively-inherited neuromuscular disease characterized by weakness and muscle atrophy. Although anecdotal benefits from exercise have been noted, and despite promising pre-clinical and pilot reports, the effect of exercise has not been addressed in a controlled trial in SMA. Objective: To assess the effects of exercise on measures of function, strength, and exercise capacity in ambulatory SMA patients. Methods/Design: An evaluator-blinded, randomized, controlled trial of aerobic and strengthening exercise in 14 ambulatory SMA patients aged 8–50 years. Patients will be randomized to either the exercise or control arm after the 1 month lead in period. During the first 6-months, the exercise group will receive the intervention while the other group serves as a control. After those 6 months, both groups will receive the intervention. The last 6-months of the study are designed to mimic real-world conditions where all participants are encouraged to continue on their own. Participants will be monitored throughout this 19 month study and will have in-person visits every three months. The primary outcome measure is the change in the total distance walked over 6-months on the six minute walk test (6MWT). Secondary outcome measures include maximal oxygen uptake (VO2 max), functional and strength assessments, pulmonary function, fatigue, and quality of life. Discussion: The result of this prospective, single blinded, randomized and controlled clinical trial of exercise on an established functional outcome measure will have impact on clinical practice by providing important guidance to clinical management of SMA patients.

Published
2014
Full Text
View/download PDF

41. Design and evaluation of a hybrid passive and active gravity neutral orthosis (GNO).

Author

Koo B, Montes J, Gamarnik V, Yeager K, Marra J, Dunaway S, Montgomery M, De Vivo DC, Strauss N, Konofagou E, Kaufmann P, and Morrison B

Subjects
Activities of Daily Living, Humans, Muscular Atrophy, Spinal physiopathology, Muscular Atrophy, Spinal therapy, Muscular Dystrophies physiopathology, Muscular Dystrophies therapy, Gravitation, Orthotic Devices
Abstract

Neuromuscular diseases (NMD), including Spinal Muscular Atrophy (SMA) and Duchenne Muscular Dystrophy (DMD), result in progressive muscular weakness that often leaves patients functionally dependent on caregivers for many activities of daily living (ADL) such as eating, bathing, grooming (touching the face and head), reaching (grabbing for objects), and dressing. In severe cases, patients are unable to perform even the simplest of activities from exploring their 3D space to touching their own face. The ability to move and initiate age appropriate tasks, such as playing and exploration, are considered to be of vital importance to both their physical and cognitive development. Therefore, to improve quality of life and reduce dependence on caregivers in children and young adults with NMD, we designed, built and evaluated an assistive, active orthosis to support arm function. The goal of this project is the development and evaluation of a mechanical arm orthosis to both encourage and assist functional arm movement while providing the user a sense of independence and control over one's own body.

Published
2009
Full Text
View/download PDF

42. An integrated motion capture system for evaluation of neuromuscular disease patients.

Author

Gamarnik V, Pan S, Malke J, Chiu C, Koo B, Montes J, Yeager K, Marra J, Dunaway S, Montgomery M, Strauss N, De Vivo DC, Kaufmann P, Morrison B, and Konofagou E

Subjects
Adolescent, Equipment Design, Equipment Failure Analysis, Humans, Male, Movement Disorders etiology, Movement Disorders physiopathology, Neuromuscular Diseases complications, Neuromuscular Diseases physiopathology, Reproducibility of Results, Sensitivity and Specificity, Systems Integration, Acceleration, Actigraphy instrumentation, Monitoring, Ambulatory instrumentation, Movement, Movement Disorders diagnosis, Neuromuscular Diseases diagnosis
Abstract

There currently exist a variety of methods for evaluating movement in patients suffering from neuromuscular diseases (NMD). These tests are primarily performed in the clinical setting and evaluated by highly trained individuals, rather than evaluating patient in their natural environments (i.e., home or school). Currently available automated motion capture modalities offer a highly accurate means of assessing general motion, but are also limited to a highly controlled setting. Recent advances in MEMS technology have introduced the possibility of robust motion capture in uncontrolled environments, while minimizing user interference with self-initiated motion, especially in weaker subjects. The goal of this study is to design and evaluate a MEMS-sensor-based system for motion capture in the NMD patient population. The highly interdisciplinary effort has led to significant progress toward the implementation of a new device, which is accurate, clinically relevant, and highly affordable.

Published
2009
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results