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1. Psychosocial impact of sport activity in neuromuscular disorders

Author

Vita, Gl, Stancanelli, C, La Foresta, S, Faraone, C, Sframeli, M, Ferrero, A, Fattore, C, Galbo, R, Ferraro, M, Ricci, G, Cotti Piccinelli, S, Pizzighello, S, Filosto, M, Martinuzzi, A, Padua, Luca, Trimarchi, G, Siciliano, G, Mongini, T, Lombardo, Me, Berardinelli, A, Vita, G, Padua L (ORCID:0000-0003-2570-9326), Vita, Gl, Stancanelli, C, La Foresta, S, Faraone, C, Sframeli, M, Ferrero, A, Fattore, C, Galbo, R, Ferraro, M, Ricci, G, Cotti Piccinelli, S, Pizzighello, S, Filosto, M, Martinuzzi, A, Padua, Luca, Trimarchi, G, Siciliano, G, Mongini, T, Lombardo, Me, Berardinelli, A, Vita, G, and Padua L (ORCID:0000-0003-2570-9326)

Abstract

Previous studies demonstrated the benefits of motor exercise and physical activity in neuromuscular disorders. However, very few papers assessed the effects of sport practise. The aim of this multicentre study was to assess the impact of sport activity on self-esteem and emotional regulation in a cohort of athletes with neuromuscular disorders. The 38 patients with Duchenne, Becker or other types of muscular dystrophy or spinal muscular atrophy practising sport (aged 13-49 years) and 39 age-, gender-, disability- and disease-matched patients not practising sport were enrolled. Testing procedures to assess self-esteem, anxiety and depression disorder, personality trait and quality of life (QoL) were used. Patients practising sport had a significantly higher self-esteem, lower level of depression, greater social own identity and adherence and QoL. Frequency of sport activity may represent a complementary therapy in neuromuscular disorders to improve mental and social well-being.

Published
2020

2. Upper limb function in Duchenne muscular dystrophy: 24 month longitudinal data.

Author

Pane, M, Coratti, G, Brogna, C, Mazzone, E, Mayhew, A, Fanelli, L, Messina, S, D'Amico, A, Catteruccia, M, Scutifero, M, Frosini, S, Lanzillotta, V, Colia, G, Cavallaro, F, Rolle, E, De Sanctis, R, Forcina, N, Petillo, R, Barp, A, Gardani, A, Pini, A, Monaco, G, D'Angelo, Mg, Zanin, Renata, Vita, Gl, Bruno, C, Mongini, T, Ricci, Maria Francesca, Pegoraro, E, Bello, L, Berardinelli, A, Battini, R, Sansone, V, Albamonte, E, Baranello, G, Bertini, E, Politano, L, Sormani, Mp, Mercuri, E., Pane M (ORCID:0000-0002-4851-6124), Coratti G (ORCID:0000-0001-6666-5628), Brogna C, Mazzone ES, Catteruccia M, Cavallaro F, Battini R, Albamonte E, Baranello G, Bertini E, Mercuri E. (ORCID:0000-0002-9851-5365), Pane, M, Coratti, G, Brogna, C, Mazzone, E, Mayhew, A, Fanelli, L, Messina, S, D'Amico, A, Catteruccia, M, Scutifero, M, Frosini, S, Lanzillotta, V, Colia, G, Cavallaro, F, Rolle, E, De Sanctis, R, Forcina, N, Petillo, R, Barp, A, Gardani, A, Pini, A, Monaco, G, D'Angelo, Mg, Zanin, Renata, Vita, Gl, Bruno, C, Mongini, T, Ricci, Maria Francesca, Pegoraro, E, Bello, L, Berardinelli, A, Battini, R, Sansone, V, Albamonte, E, Baranello, G, Bertini, E, Politano, L, Sormani, Mp, Mercuri, E., Pane M (ORCID:0000-0002-4851-6124), Coratti G (ORCID:0000-0001-6666-5628), Brogna C, Mazzone ES, Catteruccia M, Cavallaro F, Battini R, Albamonte E, Baranello G, Bertini E, and Mercuri E. (ORCID:0000-0002-9851-5365)

Abstract

The aim of the study was to establish 24 month changes in upper limb function using a revised version of the performance of upper limb test (PUL 2.0) in a large cohort of ambulant and non-ambulant boys with Duchenne muscular dystrophy and to identify possible trajectories of progression. Of the 187 patients studied, 87 were ambulant (age range: 7-15.8 years), and 90 non-ambulant (age range: 9.08-24.78). The total scores changed significantly over time (p<0.001). Non-ambulant patients had lower total scores at baseline (mean 19.7) when compared to the ambulant ones (mean 38.4). They also had also a bigger decrease in total scores over 24 months compared to the ambulant boys (4.36 vs 2.07 points). Multivariate model analysis showed that the Performance of Upper Limb changes reflected the entry level and ambulation status, that were independently associated to the slope of Performance of Upper Limb changes. This information will be of help both in clinical practice and at the time of designing clinical trials.

Published
2018

3. 6 minute walk test in duchenne MD patients with different mutations:12 month changes

Author

Pane, Marika, Mazzone, Elena Stacy, Sormani, Mp, Messina, S, Vita, Gl, Fanelli, L, Berardinelli, A, Torrente, Y, D'Amico, A, Lanzillotta, V, Viggiano, E, D'Ambrosio, P, Cavallaro, Fabio, Frosini, S, Bello, L, Bonfiglio, S, Scalise, Roberta, De Sanctis, R, Rolle, E, Bianco, F, Van der Haawue, M, Magri, F, Palermo, C, Rossi, F, Donati, Ma, Alfonsi, C, Sacchini, M, Arnoldi, Mt, Baranello, Giovanni, Mongini, T, Pini, A, Battini, Roberta, Pegoraro, E, Previtali, Sc, Napolitano, S, Bruno, C, Politano, L, Comi, Gp, Bertini, Enrico Silvio, Morandi, Laura, Gualandi, F, Ferlini, A, Goemans, N, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Pane, Marika, Mazzone, Elena Stacy, Sormani, Mp, Messina, S, Vita, Gl, Fanelli, L, Berardinelli, A, Torrente, Y, D'Amico, A, Lanzillotta, V, Viggiano, E, D'Ambrosio, P, Cavallaro, Fabio, Frosini, S, Bello, L, Bonfiglio, S, Scalise, Roberta, De Sanctis, R, Rolle, E, Bianco, F, Van der Haawue, M, Magri, F, Palermo, C, Rossi, F, Donati, Ma, Alfonsi, C, Sacchini, M, Arnoldi, Mt, Baranello, Giovanni, Mongini, T, Pini, A, Battini, Roberta, Pegoraro, E, Previtali, Sc, Napolitano, S, Bruno, C, Politano, L, Comi, Gp, Bertini, Enrico Silvio, Morandi, Laura, Gualandi, F, Ferlini, A, Goemans, N, Mercuri, Eugenio Maria, Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Abstract

OBJECTIVE: In the last few years some of the therapeutical approaches for Duchenne muscular dystrophy (DMD) are specifically targeting distinct groups of mutations, such as deletions eligible for skipping of individual exons. The aim of this observational study was to establish whether patients with distinct groups of mutations have different profiles of changes on the 6 minute walk test (6MWT) over a 12 month period. METHODS: The 6MWT was performed in 191 ambulant DMD boys at baseline and 12 months later. The results were analysed using a test for heterogeneity in order to establish possible differences among different types of mutations (deletions, duplications, point mutations) and among subgroups of deletions eligible to skip individual exons. RESULTS: At baseline the 6MWD ranged between 180 and 560,80 metres (mean 378,06, SD 74,13). The 12 month changes ranged between -325 and 175 (mean -10.8 meters, SD 69.2). Although boys with duplications had better results than those with the other types of mutations, the difference was not significant. Similarly, boys eligible for skipping of the exon 44 had better baseline results and less drastic changes than those eligible for skipping exon 45 or 53, but the difference was not significant. CONCLUSIONS: even if there are some differences among subgroups, the mean 12 month changes in each subgroup were all within a narrow Range: from the mean of the whole DMD cohort. This information will be of help at the time of designing clinical trials with small numbers of eligible patients.

Published
2014

4. The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys

Author

Pane, M, Mazzone, E, Sivo, S, Fanelli, L, De Sanctis, R, D'Amico, A, Messina, S, Battini, R, Bianco, F, Scutifero, M, Petillo, R, Frosini, S, Scalise, R, Vita, Gl, Bruno, C, Pedemonte, M, Mongini, T, Pegoraro, E, Brustia, F, Gardani, A, Berardinelli, A, Lanzillotta, V, Viggiano, E, Cavallaro, F, Sframeli, M, Bello, L, Barp, A, Busato, F, Bonfiglio, S, Rolle, E, Colia, G, Bonetti, A, Palermo, C, Graziano, A, D'Angelo, G, Pini, A, Corlatti, A, Gorni, K, Baranello, G, Antonaci, L, Bertini, E, Politano, L, Mercuri, Eugenio Maria, Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Pane, M, Mazzone, E, Sivo, S, Fanelli, L, De Sanctis, R, D'Amico, A, Messina, S, Battini, R, Bianco, F, Scutifero, M, Petillo, R, Frosini, S, Scalise, R, Vita, Gl, Bruno, C, Pedemonte, M, Mongini, T, Pegoraro, E, Brustia, F, Gardani, A, Berardinelli, A, Lanzillotta, V, Viggiano, E, Cavallaro, F, Sframeli, M, Bello, L, Barp, A, Busato, F, Bonfiglio, S, Rolle, E, Colia, G, Bonetti, A, Palermo, C, Graziano, A, D'Angelo, G, Pini, A, Corlatti, A, Gorni, K, Baranello, G, Antonaci, L, Bertini, E, Politano, L, Mercuri, Eugenio Maria, and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Abstract

The Performance of Upper Limb (PUL) test was specifically developed for the assessment of upper limbs in Duchenne muscular dystrophy (DMD). The first published data have shown that early signs of involvement can also be found in ambulant DMD boys. The aim of this longitudinal Italian multicentric study was to evaluate the correlation between the 6 Minute Walk Test (6MWT) and the PUL in ambulant DMD boys. Both 6MWT and PUL were administered to 164 ambulant DMD boys of age between 5.0 and 16.17 years (mean 8.82). The 6 minute walk distance (6MWD) ranged between 118 and 557 (mean: 376.38, SD: 90.59). The PUL total scores ranged between 52 and 74 (mean: 70.74, SD: 4.66). The correlation between the two measures was 0.499. The scores on the PUL largely reflect the overall impairment observed on the 6MWT but the correlation was not linear. The use of the PUL appeared to be less relevant in the very strong patients with 6MWD above 400 meters, who, with few exceptions had near full scores. In patients with lower 6MWD the severity of upper limb involvement was more variable and could not always be predicted by the 6MWD value or by the use of steroids. Our results confirm that upper limb involvement can already be found in DMD boys even in the ambulant phase.

Published
2014

5. Duchenne muscular dystrophy and epilepsy

Author

Pane, M, Messina, S, Bruno, C, D'Amico, A, Villanova, M, Brancalion, B, Sivo, S, Bianco, F, Striano, P, Battaglia, Domenica Immacolata, Lettori, D, Vita, Gl, Bertini, E, Gualandi, F, Ricotti, V, Ferlini, A, Mercuri, E., Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Pane, M, Messina, S, Bruno, C, D'Amico, A, Villanova, M, Brancalion, B, Sivo, S, Bianco, F, Striano, P, Battaglia, Domenica Immacolata, Lettori, D, Vita, Gl, Bertini, E, Gualandi, F, Ricotti, V, Ferlini, A, Mercuri, E., and Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021)

Abstract

Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8). Seizures were more often focal epilepsy (n=6), generalized tonic-clonic seizures (n=4) or absences (n=4). They were present in 12 of the 149 boys with normal IQ (8.1%) and in two of the 73 with mental retardation (2.7%). In two cases the parents did not report any past or present history of seizures but only 'staring episodes' interpreted as a sign of 'poor attention'. In both patients EEG showed the typical pattern observed in childhood absence epilepsy. Our results suggest that the prevalence of epilepsy in our study (6.3%) is higher than in the general pediatric population (0.5-1%). The risk of epilepsy does not appear to increase in patients with mental retardation.

Published
2013

6. Duchenne muscular dystrophy and epilepsy

Author

Pane, M, Messina, S, Bruno, C, D'Amico, A, Villanova, M, Brancalion, B, Sivo, S, Bianco, F, Striano, P, Battaglia, Domenica Immacolata, Lettori, D, Vita, Gl, Bertini, E, Gualandi, F, Ricotti, V, Ferlini, A, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Pane, M, Messina, S, Bruno, C, D'Amico, A, Villanova, M, Brancalion, B, Sivo, S, Bianco, F, Striano, P, Battaglia, Domenica Immacolata, Lettori, D, Vita, Gl, Bertini, E, Gualandi, F, Ricotti, V, Ferlini, A, Mercuri, Eugenio Maria, Battaglia, Domenica Immacolata (ORCID:0000-0003-0491-4021), and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Abstract

Cognitive and behavioral difficulties occur in approximately a third of patients with Duchenne muscular dystrophy. The aim of our study was to assess the prevalence of epilepsy in a cohort of 222 DMD patients. Epileptic seizures were found in 14 of the 222 DMD patients (6.3%). The age of onset ranged from 3 months to 16 years (mean 7.8). Seizures were more often focal epilepsy (n=6), generalized tonic-clonic seizures (n=4) or absences (n=4). They were present in 12 of the 149 boys with normal IQ (8.1%) and in two of the 73 with mental retardation (2.7%). In two cases the parents did not report any past or present history of seizures but only 'staring episodes' interpreted as a sign of 'poor attention'. In both patients EEG showed the typical pattern observed in childhood absence epilepsy. Our results suggest that the prevalence of epilepsy in our study (6.3%) is higher than in the general pediatric population (0.5-1%). The risk of epilepsy does not appear to increase in patients with mental retardation.

Published
2013

7. Importance of SPP1 genotype as a covariate in clinical trials in Duchenne muscular dystrophy

Author

Bello, L, Piva, L, Barp, A, Taglia, Andrea, Picillo, E, Vasco, Gessica, Pane, Marika, Previtali, Sc, Torrente, Y, Gazzerro, E, Motta, Mario, Grieco, Giovanni, Napolitano, S, Magri, F, D'Amico, Adele, Astrea, G, Messina, S, Sframeli, M, Vita, Gl, Boffi, Pietro, Mongini, T, Ferlini, A, Gualandi, F, Soraru', G, Ermani, M, Vita, G, Battini, R, Bertini, Enrico Silvio, Comi, Gp, Berardinelli, A, Minetti, C, Bruno, Carmelina, Mercuri, Eugenio Maria, Politano, L, Angelini, Carlo, Hoffman, Ep, Pegoraro, E., Pane, Marika (ORCID:0000-0002-4851-6124), Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365), Bello, L, Piva, L, Barp, A, Taglia, Andrea, Picillo, E, Vasco, Gessica, Pane, Marika, Previtali, Sc, Torrente, Y, Gazzerro, E, Motta, Mario, Grieco, Giovanni, Napolitano, S, Magri, F, D'Amico, Adele, Astrea, G, Messina, S, Sframeli, M, Vita, Gl, Boffi, Pietro, Mongini, T, Ferlini, A, Gualandi, F, Soraru', G, Ermani, M, Vita, G, Battini, R, Bertini, Enrico Silvio, Comi, Gp, Berardinelli, A, Minetti, C, Bruno, Carmelina, Mercuri, Eugenio Maria, Politano, L, Angelini, Carlo, Hoffman, Ep, Pegoraro, E., Pane, Marika (ORCID:0000-0002-4851-6124), and Mercuri, Eugenio Maria (ORCID:0000-0002-9851-5365)

Abstract

To test the effect of the single nucleotide polymorphism -66 T>G (rs28357094) in the osteopontin gene (SPP1) on functional measures over 12 months in Duchenne muscular dystrophy (DMD).

Published
2012

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