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1. Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Author

Bellofatto, Marta, Gentile, Luca, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Scarlato, Marina, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Villani, Flavio, Cavalca, Eleonora, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Didato, Giuseppe, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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2. Correction to: Daytime sleepiness and sleep quality in Charcot–Marie–Tooth disease

Author

Bellofatto, Marta, Gentile, Luca, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Scarlato, Marina, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Villani, Flavio, Cavalca, Eleonora, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Didato, Giuseppe, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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3. Anxiety and depression in Charcot-Marie-Tooth disease: data from the Italian CMT national registry

Author

Bellofatto, Marta, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Calabrese, Daniela, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Vita, Giuseppe, Piacentini, Sylvie, Pisciotta, Chiara, and Pareyson, Davide

Published
2023
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6. Use, tolerability, benefits and side effects of orthotic devices in Charcot-Marie-Tooth disease.

Author

Bertini, Alessandro, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Tagliapietra, Matteo, Grandis, Marina, Previtali, Stefano Carlo, Falzone, Yuri Matteo, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Tramacere, Irene, Cavalca, Eleonora, Saveri, Paola, Quattrone, Andrea, Valentino, Paola, Tozza, Stefano, and Gentile, Luca

Subjects
FOOT orthoses, ORTHOPEDIC apparatus, CHARCOT-Marie-Tooth disease, PATIENTS' attitudes, PRESSURE ulcers, FOOT pain, ORTHOPEDIC shoes, COVID-19 pandemic
Published
2024
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10. Pregnancy in Charcot-Marie-Tooth disease: Data from the Italian CMT national registry

Author

Pisciotta, Chiara, Calabrese, Daniela, Santoro, Lucio, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, Gentile, Luca, Russo, Massimo, Mazzeo, Anna, Trapasso, Maria Claudia, Parazzini, Fabio, Vita, Giuseppe, and Pareyson, Davide

Published
2020
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13. Clinical spectrum and frequency of Charcot–Marie–Tooth disease in Italy: Data from the National CMT Registry.

Author

Pisciotta, Chiara, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Tozza, Stefano, Cavallaro, Tiziana, Taioli, Federica, Ferrarini, Moreno, Grandis, Marina, Bellone, Emilia, Mandich, Paola, Previtali, Stefano C., Falzone, Yuri, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Quattrone, Aldo, and Valentino, Paola

Subjects
CHARCOT-Marie-Tooth disease, FREQUENCY spectra, GENETIC epidemiology, DISEASE progression, GENETIC disorder diagnosis, CONGENITAL hip dislocation
Abstract

Background and purpose: Data are reported from the Italian CMT Registry. Methods: The Italian CMT Registry is a dual registry where the patient registers and chooses a reference center where the attending clinician collects a minimal dataset of information and administers the Charcot–Marie–Tooth (CMT) Examination/Neuropathy Score. Entered data are encrypted. Results: Overall, 1012 patients had registered (535 females) and 711 had received a genetic diagnosis. Demyelinating CMT (65.3%) was more common than axonal CMT2 (24.6%) and intermediate CMT (9.0%). The PMP22 duplication was the most frequent mutation (45.2%), followed by variants in GJB1 and MPZ (both ~10%) and MFN2 (3.3%) genes. A relatively high mutation rate in some "rare" genes (HSPB1 1.6%, NEFL 1.5%, SH3TC2 1.5%) and the presence of multiple mutation clusters across Italy was observed. CMT4A was the most disabling type, followed by CMT4C and CMT1E. Disease progression rate differed depending on the CMT subtype. Foot deformities and walking difficulties were the main features. Shoe inserts and orthotic aids were used by almost one‐half of all patients. Scoliosis was present in 20% of patients, especially in CMT4C. Recessive forms had more frequently walking delay, walking support need and wheelchair use. Hip dysplasia occurred in early‐onset CMT. Conclusions: The Italian CMT Registry has proven to be a powerful data source to collect information about epidemiology and genetic distribution, clinical features and disease progression of CMT in Italy and is a useful tool for recruiting patients in forthcoming clinical trials. [ABSTRACT FROM AUTHOR]

Published
2023
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20. Frequency, entity and determinants of fatigue in Charcot–Marie–Tooth disease.

Author

Bellofatto, Marta, Bertini, Alessandro, Tramacere, Irene, Manganelli, Fiore, Fabrizi, Gian Maria, Schenone, Angelo, Santoro, Lucio, Cavallaro, Tiziana, Grandis, Marina, Previtali, Stefano C., Falzone, Yuri, Allegri, Isabella, Padua, Luca, Pazzaglia, Costanza, Calabrese, Daniela, Saveri, Paola, Quattrone, Aldo, Valentino, Paola, Tozza, Stefano, and Gentile, Luca

Subjects
FATIGUE (Physiology), CHARCOT-Marie-Tooth disease, EPWORTH Sleepiness Scale, NEUROMUSCULAR diseases, CANCER fatigue, BODY mass index
Abstract

Background and purpose: Fatigue, a disabling symptom in many neuromuscular disorders, has been reported also in Charcot–Marie–Tooth disease (CMT). The presence of fatigue and its correlations in CMT was investigated. Methods: The Modified Fatigue Impact Scale (MFIS) was administered to CMT patients from the Italian Registry and a control group. An MFIS score >38 indicated abnormal fatigue. The correlation with disease severity and clinical characteristics, the Hospital Anxiety and Depression Scale and Epworth Sleepiness Scale scores, and drug use was analysed. Results: Data were collected from 251 CMT patients (136 women) and 57 controls. MFIS total (mean ± standard deviation 32 ± 18.3, median 33), physical (18.9 ± 9.7, 20) and psychosocial (2.9 ± 2.4, 3) scores in CMT patients were significantly higher than controls. Abnormal fatigue occurred in 36% of the patients who, compared to patients with normal scores, had more severe disease (median CMT Examination Score 9 vs. 7), more frequent use of foot orthotics (22% vs. 11%), need of support for walking (21% vs. 8%), hand disability (70% vs. 52%) and positive sensory symptoms (56% vs. 36%). Patients with abnormal fatigue had significantly increased frequency of anxiety/depression/general distress (Hospital Anxiety and Depression Scale), somnolence (Epworth Sleepiness Scale), obesity (body mass index ≥ 30) and use of anxiolytic/antidepressant or anti‐inflammatory/analgesic drugs. Conclusions: Fatigue is a relevant symptom in CMT as 36% of our series had scores indicating abnormal fatigue. It correlated with disease severity but also with anxiety, depression, sleepiness and obesity, indicating different components in the generation of fatigue. CMT patients' management must include treatment of fatigue and of its different generators, including general distress, sleepiness and obesity. [ABSTRACT FROM AUTHOR]

Published
2023
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30. Validation of the Italian version of the Neuropathic Pain Symptom Inventory in peripheral nervous system diseases

Author

Padua, Luca, Briani, Chiara, Jann, Stefano, Nobile-Orazio, Eduardo, Pazzaglia, Costanza, Morini, Alberto, Mondelli, Mauro, Ciaramitaro, Palma, Cavaletti, Guido, Cocito, Dario, Fazio, Raffaella, Santoro, Lucio, Galeotti, Francesca, Carpo, Marinella, Plasmati, Rosaria, Benedetti, Luana, Schenone, Angelo, Marchettini, Paolo, and Cruccu, Giorgio

Published
2009
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34. Contributors

Author

Agustsson, Hilmir, primary, Allen, Steven C., additional, Arendt-Nielsen, Lars, additional, Bron, Carel, additional, Cleland, Joshua A., additional, Cook, Amy E., additional, Cook, Chad E., additional, Creighton, Douglas S., additional, Gast, Arthur de, additional, Dennison, Bryan S., additional, Dilley, Andrew, additional, Dommerholt, Jan, additional, Egan, William, additional, Peñas, César Fernández de las, additional, Flynn, Timothy, additional, Franssen, Jo L.M., additional, Freure, B Jane, additional, Fryer, Gary, additional, Ge, Hong-You, additional, Glynn, Paul E., additional, Greening, Jane, additional, Grewal, Ruby, additional, Hing, Wayne, additional, Huijbregts, Peter A., additional, Isabel-de-la-Llave-Rincón, Ana, additional, Jones, Mark A., additional, Kaltenborn, Freddy M., additional, Kaltenborn, Traudi Baldauf, additional, Kennedy, Carol, additional, Koppenhaver, Shane, additional, Krauss, John R., additional, Leal, Michael H., additional, Louw, Adriaan, additional, MacDermid, Joy C., additional, Magarey, Mary E., additional, McEvoy, Johnson, additional, Miller, Jack, additional, Mintken, Paul, additional, O'Sullivan, Kieran, additional, Padua, Luca, additional, Pazzaglia, Costanza, additional, Pettman, Erland, additional, Pilat, Andrzej, additional, Pong, Ellen J., additional, Powell, Janette W., additional, Puentedura, Emilio, additional, Quartly, Caroline A., additional, Sebelski, Chris A., additional, Shrier, Ian, additional, Simons, David G., additional, Slater, Helen, additional, Sterling, Michele, additional, Stralka, Susan W., additional, Thwaites, Louise, additional, VanderWilde, Russell S., additional, Vicenzino, Bill, additional, Walker-Bone, Karen, additional, Walton, David M., additional, and Yelvington, C. Joseph, additional

Published
2011
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42. ZNRD1‐AS and RP11‐819C21.1 long non‐coding RNA changes following painful laser stimulation correlate with laser‐evoked potential amplitude and habituation in healthy subjects: A pilot study

Author

Santoro, Massimo, primary, Vollono, Catello, additional, Pazzaglia, Costanza, additional, Di Sipio, Enrica, additional, Giordano, Rocco, additional, Padua, Luca, additional, Arendt‐Nielsen, Lars, additional, and Valeriani, Massimiliano, additional

Published
2020
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45. What Is the Role of the Placebo Effect for Pain Relief in Neurorehabilitation? Clinical Implications From the Italian Consensus Conference on Pain in Neurorehabilitation

Author

Castelnuovo, Gianluca, Giusti, Emanuele Maria, Manzoni, Gian Mauro, Saviola, Donatella, Gabrielli, Samantha, Lacerenza, Marco, Pietrabissa, Giada, Cattivelli, Roberto, Maria Spatola, Chiara Anna, Rossi, Alessandro, Varallo, Giorgia, Novelli, Margherita, Villa, Valentina, Luzzati, Francesca, Cottini, Andrea, Lai, Carlo, Volpato, Eleonora, Cavalera, Cesare, Pagnini, Francesco, Tesio, Valentina, Castelli, Lorys, Tavola, Mario, Torta, Riccardo, Arreghini, Marco, Zanini, Loredana, Brunani, Amelia, Seitanidis, Ionathan, Ventura, Giuseppe, Capodaglio, Paolo, D'Aniello, Guido Edoardo, Scarpina, Federica, Brioschi, Andrea, Bigoni, Matteo, Priano, Lorenzo, Mauro, Alessandro, Riva, Giuseppe, Di Lernia, Daniele, Repetto, Claudia, Regalia, Camillo, Molinari, Enrico, Notaro, Paolo, Paolucci, Stefano, Sandrini, Giorgio, Simpson, Susan, Wiederhold, Brenda Kay, Gaudio, Santino, Jackson, Jeffrey B., Tamburin, Stefano, Benedetti, Fabrizio, Agostini, Michela, Alfonsi, Enrico, Aloisi, Anna Maria, Alvisi, Elena, Aprile, Irene, Armando, Michela, Avenali, Micol, Azicnuda, Eva, Barale, Francesco, Bartolo, Michelangelo, Bergamaschi, Roberto, Berlangieri, Mariangela, Berlincioni, Vanna, Berliocchi, Laura, Berra, Eliana, Berto, Giulia, Bonadiman, Silvia, Bonazza, Sara, Bressi, Federica, Brugnera, Annalisa, Brunelli, Stefano, Buzzi, Maria Gabriella, Cacciatori, Carlo, Calvo, Andrea, Cantarella, Cristina, Caraceni, Augusto, Carone, Roberto, Carraro, Elena, Casale, Roberto, Castellazzi, Paola, Castino, Adele, Cerbo, Rosanna, Chiò, Adriano, Ciotti, Cristina, Cisari, Carlo, Coraci, Daniele, Dalla Toffola, Elena, Defazio, Giovanni, De Icco, Roberto, Del Carro, Ubaldo, Dell'Isola, Andrea, De Tanti, Antonio, D'Ippolito, Mariagrazia, Fazzi, Elisa, Ferrari, Adriano, Ferrari, Sergio, Ferraro, Francesco, Formaglio, Fabio, Formisano, Rita, Franzoni, Simone, Gajofatto, Francesca, Gandolfi, Marialuisa, Gardella, Barbara, Geppetti, Pierangelo, Giammò, Alessandro, Gimigliano, Raffaele, Greco, Elena, Ieraci, Valentina, Invernizzi, Marco, Jacopetti, Marco, La Cesa, Silvia, Lobba, Davide, Magrinelli, Francesca, Mandrini, Silvia, Manera, Umberto, Marchettini, Paolo, Marchioni, Enrico, Mariotto, Sara, Martinuzzi, Andrea, Masciullo, Marella, Mezzarobba, Susanna, Miotti, Danilo, Modenese, Angela, Molinari, Marco, Monaco, Salvatore, Morone, Giovanni, Nappi, Rossella, Negrini, Stefano, Pace, BIAGIO ANDREA, Padua, Luca, Pagliano, Emanuela, Palmerini, Valerio, Pazzaglia, Costanza, Pecchioli, Cristiano, Picelli, Alessandro, Porro, CARLO ADOLFO, Porru, Daniele, Romano, Marcello, Roncari, Laura, Rosa, Riccardo, Saccavini, Marsilio, Sacerdote, Paola, Schenone, Angelo, Schweiger, Vittorio, Scivoletto, Giorgio, Smania, Nicola, Solaro, Claudio, Spallone, Vincenza, Springhetti, Isabella, Tassorelli, Cristina, Tinazzi, Michele, Togni, Rossella, Torre, Monica, Traballesi, Marco, Tramontano, Marco, Truini, Andrea, Tugnoli, Valeria, Turolla, Andrea, Vallies, Gabriella, Verzini, Elisabetta, Vottero, Mario, Zerbinati, Paolo, Castelnuovo, Gianluca, Giusti, Emanuele Maria, Manzoni, Gian Mauro, Saviola, Donatella, Gabrielli, Samantha, Lacerenza, Marco, Pietrabissa, Giada, Cattivelli, Roberto, Maria Spatola, Chiara Anna, Rossi, Alessandro, Varallo, Giorgia, Novelli, Margherita, Villa, Valentina, Luzzati, Francesca, Cottini, Andrea, Lai, Carlo, Volpato, Eleonora, Cavalera, Cesare, Pagnini, Francesco, Tesio, Valentina, Castelli, Lory, Tavola, Mario, Torta, Riccardo, Arreghini, Marco, Zanini, Loredana, Brunani, Amelia, Seitanidis, Ionathan, Ventura, Giuseppe, Capodaglio, Paolo, D'Aniello, Guido Edoardo, Scarpina, Federica, Brioschi, Andrea, Bigoni, Matteo, Priano, Lorenzo, Mauro, Alessandro, Riva, Giuseppe, Di Lernia, Daniele, Repetto, Claudia, Regalia, Camillo, Molinari, Enrico, Notaro, Paolo, Paolucci, Stefano, Sandrini, Giorgio, Simpson, Susan, Wiederhold, Brenda Kay, Gaudio, Santino, Jackson, Jeffrey B., Tamburin, Stefano, Benedetti, Fabrizio, Agostini, Michela, Alfonsi, Enrico, Aloisi, Anna Maria, Alvisi, Elena, Aprile, Irene, Armando, Michela, Avenali, Micol, Azicnuda, Eva, Barale, Francesco, Bartolo, Michelangelo, Bergamaschi, Roberto, Berlangieri, Mariangela, Berlincioni, Vanna, Berliocchi, Laura, Berra, Eliana, Berto, Giulia, Bonadiman, Silvia, Bonazza, Sara, Bressi, Federica, Brugnera, Annalisa, Brunelli, Stefano, Buzzi, Maria Gabriella, Cacciatori, Carlo, Calvo, Andrea, Cantarella, Cristina, Caraceni, Augusto, Carone, Roberto, Carraro, Elena, Casale, Roberto, Castellazzi, Paola, Castino, Adele, Cerbo, Rosanna, Chiò, Adriano, Ciotti, Cristina, Cisari, Carlo, Coraci, Daniele, Dalla Toffola, Elena, Defazio, Giovanni, De Icco, Roberto, Del Carro, Ubaldo, Dell'Isola, Andrea, De Tanti, Antonio, D'Ippolito, Mariagrazia, Fazzi, Elisa, Ferrari, Adriano, Ferrari, Sergio, Ferraro, Francesco, Formaglio, Fabio, Formisano, Rita, Franzoni, Simone, Gajofatto, Francesca, Gandolfi, Marialuisa, Gardella, Barbara, Geppetti, Pierangelo, Giammò, Alessandro, Gimigliano, Raffaele, Greco, Elena, Ieraci, Valentina, Invernizzi, Marco, Jacopetti, Marco, La Cesa, Silvia, Lobba, Davide, Magrinelli, Francesca, Mandrini, Silvia, Manera, Umberto, Marchettini, Paolo, Marchioni, Enrico, Mariotto, Sara, Martinuzzi, Andrea, Masciullo, Marella, Mezzarobba, Susanna, Miotti, Danilo, Modenese, Angela, Molinari, Marco, Monaco, Salvatore, Morone, Giovanni, Nappi, Rossella, Negrini, Stefano, Pace, Andrea, Padua, Luca, Pagliano, Emanuela, Palmerini, Valerio, Pazzaglia, Costanza, Pecchioli, Cristiano, Picelli, Alessandro, Porro, Carlo Adolfo, Porru, Daniele, Romano, Marcello, Roncari, Laura, Rosa, Riccardo, Saccavini, Marsilio, Sacerdote, Paola, Schenone, Angelo, Schweiger, Vittorio, Scivoletto, Giorgio, Smania, Nicola, Solaro, Claudio, Spallone, Vincenza, Springhetti, Isabella, Tassorelli, Cristina, Tinazzi, Michele, Togni, Rossella, Torre, Monica, Traballesi, Marco, Tramontano, Marco, Truini, Andrea, Tugnoli, Valeria, Turolla, Andrea, Vallies, Gabriella, Verzini, Elisabetta, Vottero, Mario, Zerbinati, Paolo, and Italian Consensus Conference on Pain in Neurorehabilitation

Subjects
medicine.medical_specialty, Clinical psychology, Consensus conference, Health psychology, Neurorehabilitation, Pain, Placebo, Placebo effect, Neurologi, consensus conference, Analgesic, Neurology, Neurology (clinical), Context (language use), Review, Settore M-PSI/08 - PSICOLOGIA CLINICA, helath psychology, lcsh:RC346-429, 03 medical and health sciences, 0302 clinical medicine, health psychology, Fibromyalgia, medicine, pain, 030212 general & internal medicine, lcsh:Neurology. Diseases of the nervous system, neurorehabilitation, Postherpetic neuralgia, business.industry, medicine.disease, Complex regional pain syndrome, Neuropathic pain, placebo, Physical therapy, placebo effect, clinical psychology, business, 030217 neurology & neurosurgery, Neuroscience
Abstract

Background: It is increasingly acknowledged that the outcomes of medical treatments are influenced by the context of the clinical encounter through the mechanisms of the placebo effect. The phenomenon of placebo analgesia might be exploited to maximize the efficacy of neurorehabilitation treatments. Since its intensity varies across neurological disorders, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCP) summarized the studies on this field to provide guidance on its use. Methods: A review of the existing reviews and meta-analyses was performed to assess the magnitude of the placebo effect in disorders that may undergo neurorehabilitation treatment. The search was performed on Pubmed using placebo, pain, and the names of neurological disorders as keywords. Methodological quality was assessed using a pre-existing checklist. Data about the magnitude of the placebo effect were extracted from the included reviews and were commented in a narrative form. Results: 11 articles were included in this review. Placebo treatments showed weak effects in central neuropathic pain (pain reduction from 0.44 to 0.66 on a 0-10 scale) and moderate effects in postherpetic neuralgia (1.16), in diabetic peripheral neuropathy (1.45), and in pain associated to HIV (1.82). Moderate effects were also found on pain due to fibromyalgia and migraine; only weak short-term effects were found in complex regional pain syndrome. Confounding variables might have influenced these results. Clinical implications: These estimates should be interpreted with caution, but underscore that the placebo effect can be exploited in neurorehabilitation programs. It is not necessary to conceal its use from the patient. Knowledge of placebo mechanisms can be used to shape the doctor-patient relationship, to reduce the use of analgesic drugs and to train the patient to become an active agent of the therapy. Background: It is increasingly acknowledged that the outcomes of medical treatments are influenced by the context of the clinical encounter through the mechanisms of the placebo effect. The phenomenon of placebo analgesia might be exploited to maximize the efficacy of neurorehabilitation treatments. Since its intensity varies across neurological disorders, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCP) summarized the studies on this field to provide guidance on its use. Methods: A review of the existing reviews and meta-analyses was performed to assess the magnitude of the placebo effect in disorders that may undergo neurorehabilitation treatment. The search was performed on Pubmed using placebo, pain, and the names of neurological disorders as keywords. Methodological quality was assessed using a pre-existing checklist. Data about the magnitude of the placebo effect were extracted from the included reviews and were commented in a narrative form. Results: 11 articles were included in this review. Placebo treatments showed weak effects in central neuropathic pain (pain reduction from 0.44 to 0.66 on a 0-10 scale) and moderate effects in postherpetic neuralgia (1.16), in diabetic peripheral neuropathy (1.45), and in pain associated to HIV (1.82). Moderate effects were also found on pain due to fibromyalgia and migraine; only weak short-term effects were found in complex regional pain syndrome. Confounding variables might have influenced these results. Clinical implications: These estimates should be interpreted with caution, but underscore that the placebo effect can be exploited in neurorehabilitation programs. It is not necessary to conceal its use from the patient. Knowledge of placebo mechanisms can be used to shape the doctor-patient relationship, to reduce the use of analgesic drugs and to train the patient to become an active agent of the therapy.

Published
2018

47. Outcome measures in the clinical evaluation of ambulatory Charcot Marie Tooth 1A subjects

Author

Mori, Laura, Prada, Valeria, Signori, Alessio, Pareyson, Davide, Piscosquito, Giuseppe, Padua, Luca, Pazzaglia, Costanza, Fabrizi, Gian M, Picelli, Alessandro, Schenone, Angelo, Accogli, S, Bolla, S, Brugnera, A, Casati, E, Cattaneo, D, Crimi, E, Fontana, C, Francini, L, Maggi, G, Marinelli, L, Montesano, A, Monti Bragadin, M, Munari, D, Salerno, A, Scorsone, D, and Zuccarino, R.

Subjects
Male, 030506 rehabilitation, medicine.medical_treatment, Validity, Walking, law.invention, 0302 clinical medicine, Randomized controlled trial, law, Outcome Assessment, Health Care, Charcot-Marie-Tooth disease, Outcome assessment, Postural balance, Quality of life, Walking, Single-Blind Method, Prospective Studies, Range of Motion, Articular, education.field_of_study, Rehabilitation, Charcot-Marie-Tooth disease, outcome measures, walking, postural balance, quality of life, Middle Aged, Settore MED/26 - NEUROLOGIA, Motor Skills, Female, 0305 other medical science, Adult, Quality of life, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Charcot-Marie-Tooth, Population, Physical Therapy, Sports Therapy and Rehabilitation, Walk Test, Muscle Strength Dynamometer, 03 medical and health sciences, Physical medicine and rehabilitation, medicine, Humans, Muscle Strength, education, Physical Therapy Modalities, Balance (ability), Aged, business.industry, Reproducibility of Results, Clinical trial, Outcome assessment, Berg Balance Scale, Postural balance, Observational study, business, 030217 neurology & neurosurgery, Settore MED/34 - MEDICINA FISICA E RIABILITATIVA
Abstract

Background The outcome measures (OMs) in clinical trials for Charcot-Marie-Tooth disease (CMT) still represent an issue. A recent study highlighted that three additional clinical OMs, the 10-Meter Walk Test (10MWT), the 9-Hole Peg Test, and foot dorsal flexion dynamometry, further improve discrimination between severely and mildly affected patients. Another study has recently assessed the validity and reliability of the 6-Minute Walk Test (6MWT). Aim The aim of this study was to identify the most useful scales in the clinical evaluation of CMT1A patients. Design Observational study of the baseline data collected in a multicenter, prospective, randomized, single blind, controlled study to evaluate the efficacy and safety of an innovative rehabilitation protocol based on treadmill training, stretching, respiratory, and proprioceptive exercises (TreSPE study) in CMT1A patients. Setting The outpatient service of the four Italian centers involved, which are specialized in hereditary neuropathies. Population Fifty-three subjects with a clinical and genetically confirmed diagnosis of CMT1A. Methods At baseline, in addition to the CMT Neuropathy Score, all subjects underwent walking evaluation (6MWT, 10MWT), balance assessment (Berg Balance Scale [BBS], Short Physical Performance Battery [SPPB]) and a subjective evaluation of quality of life (SF36) and walking ability (Walk12). Results Analyzing the baseline data, as expected, we found a strong correlation between walk and balance evaluation, proving the validity of these tests in investigating the functional impairment of CMT1A subjects. Particularly, we found that subjects with better balance control walk at higher speed and perceive less limitations in their physical activities or motor skills. This can be reconducted to the fact that ankle stability depends upon different factors such as anatomy integrity, muscle strength and proprioception. Conclusions We identify the 6MWT, 10MWT, and SPPB as the most useful scales, in addition to the CMTNS, to evaluate the functional impairment of CMT1A patients who retain their walking capability and we suggest the use of SPPB because of its rapidity to assess balance and gait disorders in clinical settings. Clinical rehabilitation impact In the clinical practice it is important to evaluate patients comprehensively but rapidly. These outcome measures can help us to correctly assess balance and walking ability in CMT1A patients.

Published
2019

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