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1. The Effects of Prolonged Vibrotactile EMG-Based Biofeedback on Ankle Joint Range of Motion During Gait in Children with Spastic Cerebral Palsy: A Case Series

Author

Bertucco, M, Nardon, M, Mueske, N, Sandhu, S, Rethlefsen, S, Wren, T, Sanger, T, Bertucco M., Nardon M., Mueske N., Sandhu S., Rethlefsen S. A., Wren T. A. L., Sanger T. D., Bertucco, M, Nardon, M, Mueske, N, Sandhu, S, Rethlefsen, S, Wren, T, Sanger, T, Bertucco M., Nardon M., Mueske N., Sandhu S., Rethlefsen S. A., Wren T. A. L., and Sanger T. D.

Abstract

Aims: The objective of this case series was to examine the feasibility of vibrotactile EMG-based biofeedback (BF) as a home-based intervention tool to enhance sensory information during everyday motor activities and to explore its effectiveness to induce changes in active ankle range of motion during gait in children with spastic cerebral palsy (CP). Methods: Ten children ages 6 to 13 years with spastic CP were recruited. Participants wore two EMG-based vibro-tactile BF devices for at least 4 hours per day for 1-month on the ankle and knee joints muscles. The device computed the amplitude of the EMG signal of the target muscle and actuated a silent vibration motor proportional to the magnitude of the EMG. Results: Our results demonstrated the feasibility of the augmented sensory information of muscle activity to induce changes of the active ankle range of motion during gait for 6 children with an increase ranging from 8.9 to 51.6% compared to a one-month period without treatment. Conclusions: Preliminary findings of this case series demonstrate the feasibility of vibrotactile EMG-based BF and suggest potential effectiveness to increase active ankle range of motion, therefore serving as a promising therapeutic tool to improve gait in children with spastic CP.

Published
2023

3. Vibro-tactile EMG-based biofeedback induces changes of muscle activity patterns in childhood dystonia

Author

Bertucco, M, Lunardini, F, Nardon, M, Casellato, C, Pedrocchi, A, Sanger, T, Bertucco M., Lunardini F., Nardon M., Casellato C., Pedrocchi A., Sanger T. D., Bertucco, M, Lunardini, F, Nardon, M, Casellato, C, Pedrocchi, A, Sanger, T, Bertucco M., Lunardini F., Nardon M., Casellato C., Pedrocchi A., and Sanger T. D.

Abstract

Childhood dystonia has been associated with injury to the basal ganglia, however there is evidence suggesting the involvement of sensory cortex, cerebellum and brainstem. Even though dystonia is considered a movement disorder, recent studies have shown dysfunctional sensorimotor integration that further contributes to the dystonic symptoms. Such aberrant circuitry may prevent children with dystonia from acquiring new motor tasks. The use of EMG-based biofeedback has been proposed as a promising technique to augment sensory information and consequently improve motor function. The aim of this study is to test the effects of a newly designed vibrotactile EMG-based biofeedback device to induce changes of muscle patterns in children with dystonia during a continuous figure-eight task. We show a change in muscle activation task components when participants receive the biofeedback while performing the task. Those changes suggest new neuromotor solutions in the framework of motor exploration as a strategy in the early phases of motor learning.

Published
2019

9. Deep Brain Stimulation Initiative: Toward Innovative Technology, New Disease Indications, and Approaches to Current and Future Clinical Challenges in Neuromodulation Therapy.

Author

Sui, Y, Tian, Y, Ko, WKD, Wang, Z, Jia, F, Horn, A, De Ridder, D, Choi, KS, Bari, AA, Wang, S, Hamani, C, Baker, KB, Machado, AG, Aziz, TZ, Fonoff, ET, Kühn, AA, Bergman, H, Sanger, T, Liu, H, Haber, SN, Li, L, Sui, Y, Tian, Y, Ko, WKD, Wang, Z, Jia, F, Horn, A, De Ridder, D, Choi, KS, Bari, AA, Wang, S, Hamani, C, Baker, KB, Machado, AG, Aziz, TZ, Fonoff, ET, Kühn, AA, Bergman, H, Sanger, T, Liu, H, Haber, SN, and Li, L

Abstract

Deep brain stimulation (DBS) is one of the most important clinical therapies for neurological disorders. DBS also has great potential to become a great tool for clinical neuroscience research. Recently, the National Engineering Laboratory for Neuromodulation at Tsinghua University held an international Deep Brain Stimulation Initiative workshop to discuss the cutting-edge technological achievements and clinical applications of DBS. We specifically addressed new clinical approaches and challenges in DBS for movement disorders (Parkinson's disease and dystonia), clinical application toward neurorehabilitation for stroke, and the progress and challenges toward DBS for neuropsychiatric disorders. This review highlighted key developments in (1) neuroimaging, with advancements in 3-Tesla magnetic resonance imaging DBS compatibility for exploration of brain network mechanisms; (2) novel DBS recording capabilities for uncovering disease pathophysiology; and (3) overcoming global healthcare burdens with online-based DBS programming technology for connecting patient communities. The successful event marks a milestone for global collaborative opportunities in clinical development of neuromodulation to treat major neurological disorders.

Published
2020

16. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

Author

Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B., Pascual-Castroviejo, I., Comu, S., Akcakus, M., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Walsh, C. A., Bernes, S., Sanchez, H., Clark, A. E., Donahue, C., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Mckanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, and Paediatric Genetics

Subjects
Male, Pathology, DNA Mutational Analysis, Cell Cycle Proteins, medicine.disease_cause, Ciliopathies, Ocular Motility Disorders, Cohort Studies, Joubert syndrome–related disorders, CEP290, Genetics(clinical), Child, Genetics (clinical), Genetics, Mutation, Brain, Syndrome, Phenotype, Magnetic Resonance Imaging, Kidney Diseases, Molar, Neoplasm Proteins, Child, Preschool, Abnormalities, Multiple, Adolescent, Adult, Antigens, Neoplasm, Female, Humans, Abnormalities, Multiple, medicine.medical_specialty, Biology, Article, Joubert syndrome, Central nervous system disease, medicine, Antigens, Preschool, Genetic heterogeneity, medicine.disease, Cytoskeletal Proteins, Situs inversus, Neoplasm
Abstract

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene were recently identified in families with the MTS-related neurological features, many of which showed oculo-renal involvement typical of Senior-Löken syndrome (JSRD-SLS phenotype). Here, we performed comprehensive CEP290-mutation analysis on two nonoverlapping cohorts of JSRD-affected patients with a proven MTS. We identified mutations in 19 of 44 patients with JSRD-SLS. The second cohort consisted of 84 patients representing the spectrum of other JSRD subtypes, with mutations identified in only two patients. The data suggest that CEP290 mutations are frequently encountered and are largely specific to the JSRD-SLS subtype. One patient with mutation displayed complete situs inversus, confirming the clinical and genetic overlap between JSRDs and other ciliopathies.

Published
2007

17. A developmental staging series for the lizard Anolis sagrei: a model system for the integration of development, evolution, and ecology

Author

Sanger, T., Gibson-Brown, J., and Losos, J.

Subjects
Anolis -- Physiological aspects, Anolis -- Environmental aspects, Developmental genetics -- Research, Molecular biology -- Research, Veterinary physiology -- Research, Zoology and wildlife conservation
Abstract

Integrating detailed studies of ecology and evolution with modern techniques of developmental genetics and molecular biology has the potential to be one of the most informative approaches to understanding the origins of biological diversity and morphological disparity. Anolis lizards are well-studied and will serve as an ideal model system for integrating these disparate fields. Anoles have undergone a remarkable pattern of convergent evolution across the Greater Antilles in which similar sets of habitat specialists have evolved repeatedly on different islands (Losos et al. 1998). Within an island, species have diverged in both morphology and behavior to adapt to different ecological niches. One aspect of divergence is limb length: relatively long-limbed species tend to use broad surfaces such as tree trunks or the ground while short-limbed species tend to be found on narrower surfaces such as twigs. Functional studies indicate that these differences, along with differences in head and body dimensions, tail length, and number of toe lamellae are adaptive in that they provide different functional capabilities appropriate to the different habitats. Thus, Anolis has the potential to allow for one of the first comprehensive studies of how development changes across both ecological and evolutionary time scales. The goal of this study is to present a developmental staging series for A. sagrei that will serve as the standard by which future investigations of Anolis embryology and developmental genetics may be compared. We also discuss the issues of husbandry and care for this species that will need to be understood and standardized to make this species amenable to laboratory rearing and experimentation.

Published
2002

19. Harnessing neuroplasticity for clinical applications

Author

Cramer, S. C., primary, Sur, M., additional, Dobkin, B. H., additional, O'Brien, C., additional, Sanger, T. D., additional, Trojanowski, J. Q., additional, Rumsey, J. M., additional, Hicks, R., additional, Cameron, J., additional, Chen, D., additional, Chen, W. G., additional, Cohen, L. G., additional, deCharms, C., additional, Duffy, C. J., additional, Eden, G. F., additional, Fetz, E. E., additional, Filart, R., additional, Freund, M., additional, Grant, S. J., additional, Haber, S., additional, Kalivas, P. W., additional, Kolb, B., additional, Kramer, A. F., additional, Lynch, M., additional, Mayberg, H. S., additional, McQuillen, P. S., additional, Nitkin, R., additional, Pascual-Leone, A., additional, Reuter-Lorenz, P., additional, Schiff, N., additional, Sharma, A., additional, Shekim, L., additional, Stryker, M., additional, Sullivan, E. V., additional, and Vinogradov, S., additional

Published
2011
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20. Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Author

Assmann, B, primary, Hoffmann, GF, additional, Christen, HJ, additional, Moers, A von, additional, Sanger, T, additional, Mordekar, S, additional, Jardine, P, additional, Lewis, T, additional, Wraige, E, additional, Shermin-Levine, S, additional, Heales, S, additional, Gissen, P, additional, Mayatepek, E, additional, Maher, E, additional, and Kurian, MA, additional

Published
2010
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50. Olanzapine versus placebo in the treatment of acute mania. Olanzapine HGEH Study Group.

Author

Tohen, Mauricio, Sanger, Todd M., Tohen, M, Sanger, T M, McElroy, S L, Tollefson, G D, Chengappa, K N, Daniel, D G, Petty, F, Centorrino, F, Wang, R, Grundy, S L, Greaney, M G, Jacobs, T G, David, S R, and Toma, V

Subjects
ANTIPSYCHOTIC agents, THERAPEUTICS, BIPOLAR disorder, MENTAL illness treatment
Abstract

Objective: The primary intent of this study was to compare the efficacy and safety of olanzapine and placebo in the treatment of acute mania.Method: The design involved a random-assignment, double-blind, placebo-controlled parallel group study of 3 weeks' duration. After a 2- to 4-day screening period, qualified patients were assigned to either olanzapine (N = 70) or placebo (N = 69). Patients began double-blind therapy with either olanzapine, 10 mg, or placebo given once per day. After the first day of treatment, the daily dose could be adjusted upward or downward, as clinically indicated, by one capsule (olanzapine, 5 mg/day) within the allowed range of one to four capsules. The primary efficacy measure in the protocol was defined as a change from baseline to endpoint in total score on the Young Mania Rating Scale. Clinical response was defined a priori as a decrease of 50% or more from baseline in Young Mania Rating Scale total score.Results: The olanzapine group experienced significantly greater mean improvement in Young Mania Rating Scale total score than the placebo group. On the basis of the clinical response criteria, significantly more olanzapine-treated patients (48.6%) responded than those assigned to placebo (24.2%). Somnolence, dizziness, dry mouth, and weight gain occurred significantly more often with olanzapine. There were no statistically significant differences between the olanzapine-treated and placebo-treated patients with respect to measures of parkinsonism, akathisia, and dyskinesias. No discontinuations of treatment due to adverse events occurred in the olanzapine treatment group.Conclusions: The results from this study suggest that compared with placebo, olanzapine has superior efficacy for the symptoms of acute mania. [ABSTRACT FROM AUTHOR]

Published
1999
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