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345 results on '"Sival, Deborah A"'

1. Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND)

Author

Nanetti, Lorenzo, Kearney, Mary, Boesch, Sylvia, Stovickova, Lucie, Ortigoza-Escobar, Juan Darío, Macaya, Alfons, Gomez-Andres, David, Roze, Emmanuel, Molnar, Maria-Judit, Wolf, Nicole I., Darling, Alejandra, Vasco, Gessica, Bertini, Enrico, Indelicato, Elisabetta, Neubauer, David, Haack, Tobias B., Sagi, Judit C., Danti, Federica R., Sival, Deborah, Zanni, Ginevra, Kolk, Anneli, Boespflug-Tanguy, Odile, Schols, Ludger, van de Warrenburg, Bart, Vidailhet, Marie, Willemsen, Michèl A., Buizer, Annemieke I., Orzes, Enrico, Ripp, Sophie, Reinhard, Carola, Moroni, Isabella, and Mariotti, Caterina

Published
2024
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2. Improving paediatric movement disorders care: Insights on rating scales utilization and clinical practice

Author

Amato, María Eugenia, Darling, Alejandra, Stovickova, Lucie, Attard, Stephen, Eggink, Hendriekje, Engelen, Marc, Freilinger, Michael, Grosso, Salvatore, Hadzsiev, Kinga, Moroni, Isabella, Nardocci, Nardo, Neubauer, David, Nicita, Francesco, Pagliano, Emanuela, Siegert, Sandy, Soler, Doriette, van de Pol, Laura A., Vasco, Gessica, Vidailhet, Marie, Willemsen, Michel AAP., Zibordi, Federica, Zorzi, Giovanna, Zumrova, Alena, Reinhard, Carola, Sevin, Caroline, Wolf, Nicole, Rodriguez-Blazquez, Carmen, Sival, Deborah A., and Ortigoza-Escobar, Juan Darío

Published
2024
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7. Clinical Scales of Cerebellar Ataxias

Author

Bürk, Katrin, Sival, Deborah A., Schmahmann, Jeremy D., Section editor, Manto, Mario U., Section editor, Manto, Mario U., editor, Gruol, Donna L., editor, Schmahmann, Jeremy D., editor, Koibuchi, Noriyuki, editor, and Sillitoe, Roy V., editor

Published
2022
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9. The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review.

Author

Lavorgna, Luigi, Maida, Elisabetta, Reinhard, Carola, Cras, Patrick, Reetz, Kathrin, Molnar, Maria Judit, Nonnekes, Jorik, Medijainen, Kadri, Summa, Susanna, Diserens, Karin, Petrarca, Maurizio, Albanese, Alberto, Leocani, Letizia, Delussi, Marianna, Vinciguerra, Claudia, Pagliano, Emanuela, Kubica, Jadwiga, Lallemant, Pauline, Wenning, Gregor, and Sival, Deborah

Subjects
DIGITAL music, MOVEMENT disorders, WEARABLE technology, NEUROLOGICAL disorders, DIGITAL health
Abstract

Background: People with rare neurological diseases (RNDs) often experience symptoms related to movement disorders, requiring a multidisciplinary approach, including rehabilitation. Telemedicine applied to rehabilitation and symptom monitoring may be suitable to ensure treatment consistency and personalized intervention. The objective of this scoping review aimed to emphasize the potential role of telerehabilitation and teleassessment in managing movement disorders within RNDs. By providing a systematic overview of the available literature, we sought to highlight potential interventions, outcomes, and critical issues. Methods: A literature search was conducted on PubMed, Google Scholar, IEEE, and Scopus up to March 2024. Two inclusion criteria were followed: (1) papers focusing on telerehabilitation and teleassessment and (2) papers dealing with movement disorders in RNDs. Results: Eighteen papers fulfilled the inclusion criteria. The main interventions were home-based software and training programs, exergames, wearable sensors, smartphone applications, virtual reality and digital music players for telerehabilitation; wearable sensors, mobile applications, and patient home video for teleassessment. Key findings revealed positive outcomes in gait, balance, limb disability, and in remote monitoring. Limitations include small sample sizes, short intervention durations, and the lack of standardized protocols. Conclusion: This review highlighted the potential of telerehabilitation and teleassessment in addressing movement disorders within RNDs. Data indicate that these modalities may play a major role in supporting conventional programs. Addressing limitations through multicenter studies, longer-term follow-ups, and standardized protocols is essential. These measures are essential for improving remote rehabilitation and assessment, contributing to an improved quality of life for people with RNDs. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Clinical phenotypes of infantile onset CACNA1A-related disorder

Author

Gur-Hartman, Tamar, Berkowitz, Oren, Yosovich, Keren, Roubertie, Agathe, Zanni, Ginevra, Macaya, Alfons, Heimer, Gali, Dueñas, Belén Pérez, Sival, Deborah A., Pode-Shakked, Ben, López-Laso, Eduardo, Humbertclaude, Véronique, Riant, Florence, Bosco, Luca, Cayron, Lital Bachar, Nissenkorn, Andreea, Nicita, Francesco, Bertini, Enrico, Hassin, Sharon, Ben Zeev, Bruria, Zerem, Ayelet, Libzon, Stephanie, Lev, Dorit, Linder, Ilan, Lerman-Sagie, Tally, and Blumkin, Lubov

Published
2021
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13. Pre- and perinatal complications in relation to Tourette syndrome and co-occurring obsessive-compulsive disorder and attention-deficit/hyperactivity disorder

Author

Abdulkadir, Mohamed, Tischfield, Jay A, King, Robert A, Fernandez, Thomas V, Brown, Lawrence W, Cheon, Keun-Ah, Coffey, Barbara J, de Bruijn, Sebastian FTM, Elzerman, Lonneke, Garcia-Delgar, Blanca, Gilbert, Donald L, Grice, Dorothy E, Hagstrøm, Julie, Hedderly, Tammy, Heyman, Isobel, Hong, Hyun Ju, Huyser, Chaim, Ibanez-Gomez, Laura, Kim, Young Key, Kim, Young-Shin, Koh, Yun-Joo, Kook, Sodahm, Kuperman, Samuel, Lamerz, Andreas, Leventhal, Bennett, Ludolph, Andrea G, Madruga-Garrido, Marcos, Maras, Athanasios, Messchendorp, Marieke D, Mir, Pablo, Morer, Astrid, Münchau, Alexander, Murphy, Tara L, Openneer, Thaïra JC, Plessen, Kerstin J, Rath, Judith JG, Roessner, Veit, Fründt, Odette, Shin, Eun-Young, Sival, Deborah A, Song, Dong-Ho, Song, Jungeun, Stolte, Anne-Marie, Tübing, Jennifer, van den Ban, Els, Visscher, Frank, Wanderer, Sina, Woods, Martin, Zinner, Samuel H, State, Matthew W, Heiman, Gary A, Hoekstra, Pieter J, and Dietrich, Andrea

Subjects
Clinical and Health Psychology, Biomedical and Clinical Sciences, Psychology, Mental Health, Tourette Syndrome, Neurosciences, Neurodegenerative, Pediatric, Clinical Research, Attention Deficit Hyperactivity Disorder (ADHD), Infant Mortality, Serious Mental Illness, Perinatal Period - Conditions Originating in Perinatal Period, Preterm, Low Birth Weight and Health of the Newborn, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Mental health, Good Health and Well Being, Adolescent, Adult, Age Factors, Aged, Aged, 80 and over, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Child, Child, Preschool, Europe, Female, Humans, Male, Middle Aged, Obsessive-Compulsive Disorder, Parent-Child Relations, Pregnancy, Pregnancy Complications, Psychiatric Status Rating Scales, Republic of Korea, Retrospective Studies, Severity of Illness Index, Sex Factors, Tic Disorders, United States, Young Adult, Attention-deficit hyperactivity disorder, Delivery, Obsessive-compulsive disorder, Prenatal, Tourette syndrome, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry, Clinical sciences, Clinical and health psychology
Abstract

Pre- and perinatal complications have been implicated in the onset and clinical expression of Tourette syndrome albeit with considerable inconsistencies across studies. Also, little is known about their role in co-occurring obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder (ADHD) in individuals with a tic disorder. Therefore, we aimed to investigate the role of pre- and perinatal complications in relation to the presence and symptom severity of chronic tic disorder and co-occurring OCD and ADHD using data of 1113 participants from the Tourette International Collaborative Genetics study. This study included 586 participants with a chronic tic disorder and 527 unaffected family controls. We controlled for age and sex differences by creating propensity score matched subsamples for both case-control and within-case analyses. We found that premature birth (OR = 1.72) and morning sickness requiring medical attention (OR = 2.57) were associated with the presence of a chronic tic disorder. Also, the total number of pre- and perinatal complications was higher in those with a tic disorder (OR = 1.07). Furthermore, neonatal complications were related to the presence (OR = 1.46) and severity (b = 2.27) of co-occurring OCD and also to ADHD severity (b = 1.09). Delivery complications were only related to co-occurring OCD (OR = 1.49). We conclude that early exposure to adverse situations during pregnancy is related to the presence of chronic tic disorders. Exposure at a later stage, at birth or during the first weeks of life, appears to be associated with co-occurring OCD and ADHD.

Published
2016

23. A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism

Author

Koens, Lisette H., primary, Klamer, Marrit R., additional, Sival, Deborah A., additional, Balint, Bettina, additional, Bhatia, Kailash P., additional, Contarino, Maria Fiorella, additional, van Egmond, Martje E., additional, Erro, Roberto, additional, Friedman, Jennifer, additional, Fung, Victor S.C., additional, Ganos, Christos, additional, Kurian, Manju A., additional, Lang, Anthony E., additional, McGovern, Eavan M., additional, Roze, Emmanuel, additional, de Koning, Tom J., additional, and Tijssen, Marina A.J., additional

Published
2023
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27. X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Author

Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, and Vanderver, Adeline

Published
2017
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33. Long-Term Outcome in Pyridoxine-Dependent Epilepsy

Author

Bok, Levinus A., Halbertsma, Feico J., Houterman, Saskia, Wevers, Ron A., Vreeswijk, Charlotte, Jakobs, Cornelis, Struys, Eduard, van der Hoeven, Johan H., Sival, Deborah A., and Willemsen, Michel A.

Abstract

Aim: The long-term outcome of the Dutch pyridoxine-dependent epilepsy cohort and correlations between patient characteristics and follow-up data were retrospectively studied. Method: Fourteen patients recruited from a national reference laboratory were included (four males, 10 females, from 11 families; median age at assessment 6y; range 2y 6mo-16y). The following data were retrieved: sex; age at seizure onset; age at the start of pyridoxine therapy; level of urinary alpha-aminoadipic semialdehyde; antiquitin mutations; developmental milestones; evaluation of neurocognitive functioning and school career; magnetic resonance imaging (MRI) and electroencephalography (EEG) assessments. Results: Pyridoxine was started antenatally in two children, in the first week of life in five, in the first month of life in three, or after the first month of life (range 2.5-8mo) in four. No child was physically disabled; however, only five walked at 2 years of age. Mental development was delayed in most: median IQ or developmental index was 72 (SD 19). Pyridoxine monotherapy controlled seizures in 10 of 14 children, whereas four needed additional antiepileptic drugs. Seizure persistence, antiepileptic drugs (other than pyridoxine), EEG background, and epileptiform activity were not associated with outcome. On neonatal MRI, structural and white matter abnormalities occurred in five of eight children; on follow-up, the number of abnormal MRIs was increased. Delayed initiation of pyridoxine medication and corpus callosum abnormalities were significantly associated with unfavourable neurodevelopmental outcome, but normal follow-up imaging did not predict a good outcome. Interpretation: Outcome of patients with pyridoxine-dependent epilepsy remains poor. Individual outcome cannot be predicted by the evaluated characteristics. We suggest that collaborated research in structured settings could help to improve treatment strategies and outcome for pyridoxine-dependent epilepsy. (Contains 1 figure and 3 tables.)

Published
2012
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40. Cell Junction Pathology of Neural Stem Cells Is Associated With Ventricular Zone Disruption, Hydrocephalus, and Abnormal Neurogenesis

Author

Guerra, María Montserrat, Henzi, Roberto, Ortloff, Alexander, Lichtin, Nicole, Vío, Karin, Jiménez, Antonio J., Dominguez-Pinos, María Dolores, González, César, Jara, Maria Clara, Hinostroza, Fernando, Rodríguez, Sara, Jara, Maryoris, Ortega, Eduardo, Guerra, Francisco, Sival, Deborah A., den Dunnen, Wilfred F. A., Pérez-Fígares, José M., McAllister, James P., Johanson, Conrad E., and Rodríguez, Esteban M.

Published
2015
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41. The ARCA registry : a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias

Author

Traschütz, Andreas, Reich, Selina, Adarmes, Astrid D, Anheim, Mathieu, Ashrafi, Mahmoud Reza, Baets, Jonathan, Basak, A Nazli, Bertini, Enrico, Brais, Bernard, Gagnon, Cynthia, Gburek-Augustat, Janina, Hanagasi, Hasmet A, Heinzmann, Anna, Horvath, Rita, De Jonghe, Peter, Kamm, Christoph, Klivenyi, Peter, Klopstock, Thomas, Minnerop, Martina, Münchau, Alexander, Renaud, Mathilde, Roxburgh, Richard H, Santorelli, Filippo M, Schirinzi, Tommaso, Sival, Deborah A, Timmann, Dagmar, Vielhaber, Stefan, Wallner, Michael, Van De Warrenburg, Bart P, Zanni, Ginevra, Zuchner, Stephan, Klockgether, Thomas, Schüle, Rebecca, Schöls, Ludger, PREPARE Consortium, Synofzik, Matthis, PREPARE Consortium, Horvath, Rita [0000-0002-9841-170X], and Apollo - University of Cambridge Repository

Subjects
ataxia, Medizin, Review, registry, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Naturgeschichte (Fach), Neurology, natural history, trial readiness, ddc:570, network, ddc:610, Human medicine, Ataxie
Abstract

Contains fulltext : 238566.pdf (Publisher’s version ) (Open Access) Autosomal recessive cerebellar ataxias (ARCAs) form an ultrarare yet expanding group of neurodegenerative multisystemic diseases affecting the cerebellum and other neurological or non-neurological systems. With the advent of targeted therapies for ARCAs, disease registries have become a precious source of real-world quantitative and qualitative data complementing knowledge from preclinical studies and clinical trials. Here, we review the ARCA Registry, a global collaborative multicenter platform (>15 countries, >30 sites) with the overarching goal to advance trial readiness in ARCAs. It presents a good clinical practice (GCP)- and general data protection regulation (GDPR)-compliant professional-reported registry for multicenter web-based capture of cross-center standardized longitudinal data. Modular electronic case report forms (eCRFs) with core, extended, and optional datasets allow data capture tailored to the participating site's variable interests and resources. The eCRFs cover all key data elements required by regulatory authorities [European Medicines Agency (EMA)] and the European Rare Disease (ERD) platform. They capture genotype, phenotype, and progression and include demographic data, biomarkers, comorbidity, medication, magnetic resonance imaging (MRI), and longitudinal clinician- or patient-reported ratings of ataxia severity, non-ataxia features, disease stage, activities of daily living, and (mental) health status. Moreover, they are aligned to major autosomal-dominant spinocerebellar ataxia (SCA) and sporadic ataxia (SPORTAX) registries in the field, thus allowing for joint and comparative analyses not only across ARCAs but also with SCAs and sporadic ataxias. The registry is at the core of a systematic multi-component ARCA database cluster with a linked biobank and an evolving study database for digital outcome measures. Currently, the registry contains more than 800 patients with almost 1,500 visits representing all ages and disease stages; 65% of patients with established genetic diagnoses capture all the main ARCA genes, and 35% with unsolved diagnoses are targets for advanced next-generation sequencing. The ARCA Registry serves as the backbone of many major European and transatlantic consortia, such as PREPARE, PROSPAX, and the Ataxia Global Initiative, with additional data input from SPORTAX. It has thus become the largest global trial-readiness registry in the ARCA field.

Published
2021

43. Ataxia rating scales are age-dependent in healthy children

Author

Brandsma, Rick, Spits, Anne H, Kuiper, Marieke J, Lunsing, Roelinka J, Burger, Huibert, Kremer, Hubertus P, Sival, Deborah A, Barisic, N., Baxter, P., Brankovic-Sreckovic, V., Calabrò, G. E., Catsman-Berrevoets, C., de Coo, IFM, Craiu, D., Dan, B., Gburek-Augustat, J., Kammoun-Feki, F., Kennedy, C., Mancini, F., Mirabelli-Badenier, M., Nemeth, A., Newton, R., Poll-The, B. T., Steinlin, M., Synofzik, M., Topcu, M., Triki, C., and Valente, E. M.

Published
2014
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45. Functional magnetic resonance imaging of the sensorimotor system in preterm infants

Author

Heep, Axel, Scheef, Lukas, Jankowski, Jakob, Born, Mark, Zimmermann, Nadine, Sival, Deborah, Bos, Arie, Gieseke, Jurgen, Bartmann, Peter, Schild, Hans, and Boecker, Henning

Subjects
Perceptual-motor processes -- Demographic aspects, Perceptual-motor processes -- Physiological aspects, Perceptual-motor processes -- Research, Magnetic resonance imaging -- Usage, Magnetic resonance imaging -- Research, Infants (Premature) -- Medical examination, Infants (Premature) -- Physiological aspects, Infants (Premature) -- Research
Published
2009

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