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353 results on '"Ronen, Gabriel M."'

1. How Does the WHO’s Framework for Functioning, Disability and Health (ICF) Provide an Ethical Foundation for 21st Century Clinicians?

Author

Ronen, Gabriel M., Rosenbaum, Peter L., Cooley, Dennis R., Series Editor, Weisstub, David N., Founding Editor, Kimbrough Kushner, Thomasine, Founding Editor, Carney, Terry, Editorial Board Member, Düwell, Marcus, Editorial Board Member, Heitman, Elizabeth, Editorial Board Member, Hodge, David Augustin, Editorial Board Member, Holm, Søren, Editorial Board Member, Jones, Nora L., Editorial Board Member, Kimsma, Gerrit, Editorial Board Member, Sulmasy, M. D., Daniel P., Editorial Board Member, Bianchi, Andria, editor, and Vogt, Janet A., editor

Published
2024
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2. Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

Author

Unda, Brianna K., Chalil, Leon, Yoon, Sehyoun, Kilpatrick, Savannah, Irwin, Courtney, Xing, Sansi, Murtaza, Nadeem, Cheng, Anran, Brown, Chad, Afonso, Alexandria, McCready, Elizabeth, Ronen, Gabriel M., Howe, Jennifer, Caye-Eude, Aurélie, Verloes, Alain, Doble, Brad W., Faivre, Laurence, Vitobello, Antonio, Scherer, Stephen W., Lu, Yu, Penzes, Peter, and Singh, Karun K.

Published
2023
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3. Development of an International Standard Set of Outcomes and Measurement Methods for Routine Practice for Adults with Epilepsy: The International Consortium for Health Outcomes Measurement Consensus Recommendations

Author

Mitchell, James W., primary, Sossi, Frieda, additional, Miller, Isabel, additional, Jaber, Paula Blancarte, additional, Das‐Gupta, Zofia, additional, Fialho, Luz Sousa, additional, Amos, Action, additional, Austin, Joan K., additional, Badzik, Scott, additional, Baker, Gus, additional, Zeev, Bruria Ben, additional, Bolton, Jeffrey, additional, Chaplin, John E., additional, Cross, J. Helen, additional, Chan, Derrick, additional, Gericke, Christian A., additional, Husain, Aatif M., additional, Lally, Lorraine, additional, Mbugua, Sharon, additional, Megan, Cassidy, additional, Mesa, Tomás, additional, Nuñez, Lilia, additional, von Oertzen, Tim J., additional, Perucca, Emilio, additional, Pullen, Angie, additional, Ronen, Gabriel M., additional, Sajatovic, Martha, additional, Singh, Mamta B., additional, Wilmshurst, Jo M., additional, Wollscheid, Leonie, additional, and Berg, Anne T., additional

Published
2024
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11. Revisiting the meaning and the source of health‐related constructs and their applications in neurodisability.

Author

Ronen, Gabriel M.

Subjects
*PSYCHOMETRICS, *FUNCTIONAL status, *WELL-being, *QUALITY of life, *RESEARCH questions, *PEOPLE with disabilities
Abstract

The aim of this review is to revisit the meaning of common concepts and frameworks promoted to capture subjective outcomes of patients, the content of their corresponding measurements, and the preferred sources of the information of interest. This is important because conceptualizations of 'health' and the subject evaluations thereof continue to evolve. Related but distinct concepts like quality of life (QoL), health‐related QoL (HRQoL), functional status, health status, and well‐being are often used indiscriminately to assess clinical impacts of interventions and to influence decisions about patient care and policymaking. The discussion addresses and illustrates the following issues: (1) the required features of effective and valid health‐related concepts; (2) understanding underlying factors that often create confusion about QoL and HRQoL; and (3) how these concepts provide insight into, and promote, health in the context of populations with neurodisability. The hope is to illustrate how a combination of a clear research question, a hypothesis, conceptualization of the required outcomes, and operational definitions of the domains and items of interest, including item mapping, can help to achieve robust methodology and valid findings beyond the required psychometric properties. What this paper adds: The language, content, and the source of perceived health and life issues are clarified.Using the same terms for different constructs, or different terms for the same constructs, creates confusion and hinders outcome research.The challenges of using patient‐reported outcomes in neurodisability are addressed. What this paper adds: The language, content, and the source of perceived health and life issues are clarified.Using the same terms for different constructs, or different terms for the same constructs, creates confusion and hinders outcome research.The challenges of using patient‐reported outcomes in neurodisability are addressed. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy

Author

Bobbili, Dheeraj R., Lal, Dennis, May, Patrick, Reinthaler, Eva M., Jabbari, Kamel, Thiele, Holger, Nothnagel, Michael, Jurkowski, Wiktor, Feucht, Martha, Nürnberg, Peter, Lerche, Holger, Zimprich, Fritz, Krause, Roland, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Altmüller, Janine, Lal, Dennis, Nürnberg, Peter, Sander, Thomas, Thiele, Holger, Krause, Roland, May, Patrick, Balling, Rudi, Lerche, Holger, Neubauer, Bernd A., and EUROEPINOMICS COGIE Consortium

Published
2018
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17. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Author

Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Geldner, Julia, Gruber-Sedlmayr, Ursula, Haberlandt, Edda, Ronen, Gabriel M., Roche, Laurian, Lal, Dennis, Nürnberg, Peter, Sander, Thomas, Lerche, Holger, Neubauer, Bernd, Zimprich, Fritz, Mörzinger, Martina, Feucht, Martha, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S, Klitten, Laura L., Hjalgrim, Helle, Møller, Rikke S, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Nürnberg, Peter, Sander, Thomas, Trucks, Holger, Elger, Christian E., Kleefu-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Sander, Thomas, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, and Silfhout, Anneke Vulto-van

Published
2014
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22. Mutations in KCNT1 cause a spectrum of focal epilepsies

Author

Møller, Rikke S., Heron, Sarah E., Larsen, Line H. G., Lim, Chiao Xin, Ricos, Michael G., Bayly, Marta A., van Kempen, Marjan J. A., Klinkenberg, Sylvia, Andrews, Ian, Kelley, Kent, Ronen, Gabriel M., Callen, David, McMahon, Jacinta M., Yendle, Simone C., Carvill, Gemma L., Mefford, Heather C., Nabbout, Rima, Poduri, Annapurna, Striano, Pasquale, Baglietto, Maria G., Zara, Federico, Smith, Nicholas J., Pridmore, Clair, Gardella, Elena, Nikanorova, Marina, Dahl, Hans Atli, Gellert, Pia, Scheffer, Ingrid E., Gunning, Boudewijn, Kragh-Olsen, Bente, and Dibbens, Leanne M.

Published
2015
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24. Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Author

Reinthaler, Eva M., Dejanovic, Borislav, Lal, Dennis, Semtner, Marcus, Merkler, Yvonne, Reinhold, Annika, Pittrich, Dorothea A., Hotzy, Christoph, Feucht, Martha, Steinböck, Hannelore, Gruber-Sedlmayr, Ursula, Ronen, Gabriel M., Neophytou, Birgit, Geldner, Julia, Haberlandt, Edda, Muhle, Hiltrud, Ikram, Arfan M., van Duijn, Cornelia M., Uitterlinden, Andre G., Hofman, Albert, Altmüller, Janine, Kawalia, Amit, Toliat, Mohammad R., Nürnberg, Peter, Lerche, Holger, Nothnagel, Michael, Thiele, Holger, Sander, Thomas, Meier, Jochen C., Schwarz, Günter, Neubauer, Bernd A., and Zimprich, Fritz

Published
2015
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36. Patient perspectives in pediatric neurology: a critical shift in the paradigm of outcome measurement.

Author

Ronen, Gabriel M, Rosenbaum, Peter L, and Streiner, David L

Subjects
*PEDIATRIC neurology, *PATIENTS' attitudes
Abstract

This review explores children's self‐reported outcome measurements in pediatric neurology. We examine the following questions: (1) What is meant by patient‐reported health, functioning, and quality of life outcomes? (2) How can patients express whether the interventions they receive do more good than harm? (3) Why and how should pediatric neurology patients help determine the outcomes of interest? (4) What tools and recommendations are available to evaluate the outcomes of interest? Applying patients' perspectives across the processes of evaluation of medical interventions has become an important expectation. These developments, consistent with current healthcare goals, coincide with the evolution of pediatric neurology into a sophisticated diagnostic–interventional field that aims to prolong survival, decrease impairments and symptoms, and improve patients' well‐being – the recognized essential endpoints of interest in all medicine. This invited review is commented by Basu on page 143 of this issue. [ABSTRACT FROM AUTHOR]

Published
2022
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41. BRAT 1encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

Author

Scheffer, Ingrid E, primary, Boysen, Katja E, additional, Schneider, Amy L, additional, Myers, Candace T, additional, Mehaffey, Michele G, additional, Rochtus, Anne M, additional, Yuen, Yuet‐Ping, additional, Ronen, Gabriel M, additional, Chak, Wai Km, additional, Gill, Deepak, additional, Poduri, Annapurna, additional, and Mefford, Heather C, additional

Published
2019
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45. Translating knowledge into action to prevent pediatric and adolescent diabesity: a meeting report

Author

Balakumaran, Janatani, Kao, Yun-Ya, Wang, Kuan-Wen, Ronen, Gabriel M, MacKillop, James, Thabane, Lehana, and Samaan, M Constantine

Subjects
obesity, pediatric, pediatric type 2 diabetes mellitus, adolescent, diabesity, meeting, Adolescent Health, Medicine and Therapeutics, Original Research
Abstract

Janatani Balakumaran,*,1,2 Yun-Ya Kao,*,1,2 Kuan-Wen Wang,1,2 Gabriel M Ronen,1 James MacKillop,3 Lehana Thabane,1,4–7 M Constantine Samaan1,2,41Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada; 2Division of Pediatric Endocrinology, McMaster Children’s Hospital, Hamilton, Ontario, Canada; 3Department of Psychiatry and Behavioural Neurosciences, Faculty of Health Sciences, Peter Boris Centre for Addictions Research, McMaster University/St. Joseph’s Healthcare Hamilton, Hamilton, Ontario, Canada; 4Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Ontario, Canada; 5Department of Anesthesia, McMaster University, Hamilton, Ontario, Canada; 6Centre for Evaluation of Medicines, St. Joseph’s Health Care, Hamilton, Ontario, Canada; 7Biostatistics Unit, St Joseph’s Healthcare-Hamilton, Hamilton, Ontario, CanadaCorrespondence: M Constantine SamaanDepartment of Pediatrics, McMaster University, Division of Pediatric Endocrinology, McMaster Children’s Hospital, 1280 Main Street West, HSC-3A57, Hamilton, Ontario L8S 4K1, CanadaTel +1 905 521 2100 ext. 75926Fax +1 905 308 7548Email samaanc@mcmaster.ca*These authors contributed equally to this workBackground: The obesity and Type 2 Diabetes Mellitus (T2DM) rates are at an all-time high globally. This diabesity epidemic is increasingly impacting children and adolescents, and there is scarce evidence of interventions with favourable long-term outcomes.Purpose: In order to understand the determinants of diabesity and how to address them, multiple stakeholders were invited to a meeting to discuss current state of knowledge and to help design a program to prevent pediatric and adolescent diabesity.Participants and methods: The meeting was held at McMaster University on March 4th, 2015. The event involved presentations to deliver state-of-the-art knowledge about diabesity, and roundtable discussions of several domains including nutrition, physical activity, sleep, and mental health. Discussion transcripts were analyzed using NVivo.Results: Forty-nine participants took part in the workshop. They included clinical healthcare professionals, public health, Aboriginal Patient Navigator, research scientists, students, and patients with family members. A total of 628 reference counts from the roundtable discussions were coded under 20 emerging themes. Participants believed that the most important elements of the program involve the provision of knowledge and education, family involvement, patient motivation, location of program delivery, and use of surveys and questionnaires for outcome measurement.Conclusion: Effective pediatric and adolescent diabesity prevention programs should be conceptualized by multidisciplinary stakeholders and embrace the complexity of diabesity with multiprong interventions. This meeting provided a framework for developing such interventions.Keywords: diabesity, meeting, pediatric, adolescent, obesity, pediatric type 2 diabetes mellitus

Published
2019

46. Translating knowledge into action to prevent pediatric and adolescent diabesity: a meeting report

Author

Balakumaran,Janatani, Kao,Yun-Ya, Wang,Kuan-Wen, Ronen,Gabriel M., MacKillop,James, Thabane,Lehana, Samaan,M. Constantine, Balakumaran,Janatani, Kao,Yun-Ya, Wang,Kuan-Wen, Ronen,Gabriel M., MacKillop,James, Thabane,Lehana, and Samaan,M. Constantine

Abstract

Janatani Balakumaran,*,1,2 Yun-Ya Kao,*,1,2 Kuan-Wen Wang,1,2 Gabriel M Ronen,1 James MacKillop,3 Lehana Thabane,1,4–7 M Constantine Samaan1,2,41Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada; 2Division of Pediatric Endocrinology, McMaster Children’s Hospital, Hamilton, Ontario, Canada; 3Department of Psychiatry and Behavioural Neurosciences, Faculty of Health Sciences, Peter Boris Centre for Addictions Research, McMaster University/St. Joseph’s Healthcare Hamilton, Hamilton, Ontario, Canada; 4Department of Health Research Methods, Evidence and Impact, McMaster University, Hamilton, Ontario, Canada; 5Department of Anesthesia, McMaster University, Hamilton, Ontario, Canada; 6Centre for Evaluation of Medicines, St. Joseph’s Health Care, Hamilton, Ontario, Canada; 7Biostatistics Unit, St Joseph’s Healthcare-Hamilton, Hamilton, Ontario, CanadaCorrespondence: M Constantine SamaanDepartment of Pediatrics, McMaster University, Division of Pediatric Endocrinology, McMaster Children’s Hospital, 1280 Main Street West, HSC-3A57, Hamilton, Ontario L8S 4K1, CanadaTel +1 905 521 2100 ext. 75926Fax +1 905 308 7548Email samaanc@mcmaster.ca*These authors contributed equally to this workBackground: The obesity and Type 2 Diabetes Mellitus (T2DM) rates are at an all-time high globally. This diabesity epidemic is increasingly impacting children and adolescents, and there is scarce evidence of interventions with favourable long-term outcomes.Purpose: In order to understand the determinants of diabesity and how to address them, multiple stakeholders were invited to a meeting to discuss current state of knowledge and to help design a program to prevent pediatric and adolescent diabesity.Participants and methods: The meeting was held at McMaster University on March 4th, 2015. The event involved presentations to deliver state-of-the-art knowledge about diabesity, and roundtable discussions of several domai

Published
2019

49. Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay

Author

De Vivo, Darryl C., Trifiletti, Rosario R., Jacobson, Ronald I., Ronen, Gabriel M., Behmand, Ramin A., and Harik, Sami I.

Subjects
Cerebrospinal fluid -- Analysis, Glucose metabolism -- Physiological aspects, Developmental disabilities -- Causes of, Ketogenic diet -- Health aspects, Blood-brain barrier disorders -- Complications, Seizures (Medicine) -- Diet therapy
Abstract

Glucose (d-glucose or dextrose, a sugar) is essential for the functioning of the brain and other tissues; it is carried to the brain by five glucose-transporter proteins. Certain genetic conditions impede the movement of glucose across the blood-brain barrier. Two cases involving children with hypoglycorrhachia (low levels of glucose in cerebrospinal fluid), seizures and delayed development are discussed. Both children evidently suffered from a genetic defect of the type 1 glucose transporter. In both cases, seizures began at about two months of age, mental and physical development was delayed, and microcephaly (abnormally small head circumference) was observed. Seizures were treated unsuccessfully with anticonvulsant medications. Lumbar punctures indicated low cerebrospinal fluid levels of glucose and the enzyme lactate; the former suggested a defect of in the transport of glucose to the brain. The condition was diagnosed as a partial defect of the glucose transporter. The genetic aspects of the defect, and its detection, are discussed. Both children were put on ketogenic diets, which produce ketones (compounds generated by the oxidation of fatty acids). This diet is one treatment for seizures that can not be controlled otherwise, but how it works is unknown. Apparently, the ketones provide the brain with energy necessary for the developing nervous system. Both children were free of seizures within one week of beginning the diet. From the relative performances of these two patients, it is concluded that early detection and treatment of hypoglycorrhachia and seizures with a ketogenic diet will moderate some of the ill effects of the condition. (Consumer Summary produced by Reliance Medical Information, Inc.)

Published
1991

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