المؤلفون: Sonia Messina, Maria Sframeli, Jacqueline Montes, Simone Morando, John W. Day, Valeria A. Sansone, Matthew Civitello, Laura Antonaci, William B. Martens, Allan M. Glanzman, Enrico Bertini, Annemarie Rohwer, Marika Pane, Eugenio Mercuri, Adele D'Amico, Irene Mizzoni, Claudio Bruno, Katia Patanella, Roberto De Sanctis, Francesco Muntoni, Darryl C. De Vivo, Anna Lia Frongia, Francesca Bovis, Tina Duong, Maria Carmela Pera, Amy Pasternak, Giorgia Coratti, Francesca Salmin, Richard S. Finkel, Mariacristina Scoto, Basil T. Darras, Sally Dunaway Young

المصدر: Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Outcome Assessment, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, 0302 clinical medicine, Outcome Assessment, Health Care, Medicine, Adolescent, Adult, Aged, Child, Child, Preschool, Female, Humans, Longitudinal Studies, Middle Aged, Young Adult, Registries, Research Articles, media_common, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, General Neuroscience, nusinersen, SMA, medicine.anatomical_structure, Cohort, Upper limb, Nusinersen, RC321-571, Research Article, medicine.medical_specialty, media_common.quotation_subject, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, Text mining, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Preschool, RC346-429, Selection bias, Adult patients, business.industry, Spinal muscular atrophy, medicine.disease, Health Care, 030104 developmental biology, Neurology (clinical), Neurology. Diseases of the nervous system, business, 030217 neurology & neurosurgery

الوصف: Objective We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort. Methods Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Revised Upper Limb Module (RULM), and 6‐Minute Walk Test (6MWT) with a mean follow‐up of 1.83 years after nusinersen treatment. Results Over 75% of the 144 patients had a 12‐month follow‐up. There was an increase in the mean scores from baseline to 12 months on both HFMSE (1.18 points, p = 0.004) and RULM scores (0.58 points, p = 0.014) but not on the 6MWT (mean difference = 6.65 m, p = 0.33). When the 12‐month HFMSE changes in the treated cohort were compared to an external cohort of untreated patients, in all untreated patients older than 7 years, the mean changes were always negative, while always positive in the treated ones. To reduce a selection bias, we also used a multivariable analysis. On the HFMSE scale, age, gender, baseline value, and functional status contributed significantly to the changes, while the number of SMN2 copies did not contribute. The effect of these variables was less obvious on the RULM and 6MWT. Interpretation Our results expand the available data on the effect of Nusinersen on type III patients, so far mostly limited to data from adult type III patients.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce733bf025ec593e1d29dfd1172ba332Test
http://europepmc.org/articles/PMC8351459Test

المؤلفون: Anne-Marie Childs, Robert Muni Lofra, Min Ong, Eugenio Mercuri, Chiara Marini-Bettolo, Richard S. Finkel, Giorgia Coratti, Federica Trucco, Elizabeth A. Kichula, Adele D'Amico, Valeria A. Sansone, Francesco Muntoni, Mariacristina Scoto, Aledie A. Navas Nazario, Tracey Willis, Darryl C. De Vivo, Marika Pane, J. Day, Marion Main, Vasantha Gowda, Oscar H. Mayer, Claudio Bruno, A. Mayhew, Deepak Parasuraman, Emilio Albamonte, Sonia Messina, Jacqueline Montes, Basil T. Darras, Deborah Ridout, Enrico Bertini

المصدر: Neurology
article-version (Version of Record) 3

مصطلحات موضوعية: Male, Vital capacity, medicine.medical_specialty, Internationality, Adolescent, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Scoliosis, Spinal Muscular Atrophies of Childhood, Article, Cohort Studies, 03 medical and health sciences, FEV1/FVC ratio, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Humans, Medicine, Respiratory function, Child, Retrospective Studies, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Retrospective cohort study, Respiration Disorders, SMA, medicine.disease, 030228 respiratory system, Female, Nusinersen, Neurology (clinical), business, 030217 neurology & neurosurgery, Follow-Up Studies, Cohort study

الوصف: ObjectiveTo describe the respiratory trajectories and their correlation with motor function in an international pediatric cohort of patients with type 2 and nonambulant type 3 spinal muscular atrophy (SMA).MethodsThis was an 8-year retrospective observational study of patients in the International SMA Consortium (iSMAc) natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC percent predicted (FVC%P), and noninvasive ventilation (NIV) requirement. Hammersmith Functional Motor Scale (HFMS) and revised Performance of Upper Limb (RULM) scores were correlated with respiratory function. We excluded patients in interventional clinical trials and on nusinersen commercial therapy.ResultsThere were 437 patients with SMA: 348 with type 2 and 89 with nonambulant type 3. Mean age at first visit was 6.9 (±4.4) and 11.1 (±4) years. In SMA type 2, FVC%P declined by 4.2%/y from 5 to 13 years, followed by a slower decline (1.0%/y). In type 3, FVC%P declined by 6.3%/y between 8 and 13 years, followed by a slower decline (0.9%/y). Thirty-nine percent with SMA type 2% and 9% with type 3 required NIV at a median age 5.0 (1.8–16.6) and 15.1 (13.8–16.3) years. Eighty-four percent with SMA type 2% and 80% with type 3 had scoliosis; 54% and 46% required surgery, which did not significantly affect respiratory decline. FVC%P positively correlated with HFMS and RULM scores in both subtypes.ConclusionsIn SMA type 2 and nonambulant type 3, lung function declines differently, with a common leveling after age 13 years. Lung and motor function correlated in both subtypes. Our data further define the milder SMA phenotypes and provide information to benchmark the long-term efficacy of new treatments for SMA.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eca983988c6c9fb647b81bac43f2cb61Test
https://doi.org/10.1212/wnl.0000000000011051Test

المؤلفون: Valeria A. Sansone, Matthew Civitello, Mariacristina Scoto, Adele D'Amico, Emilio Albamonte, Irene Mizzoni, Anna Lia Frongia, Maria Carmela Pera, Basil T. Darras, John W. Day, Amy Pasternak, Francesca Bovis, Sally Dunaway Young, Giorgia Coratti, Laura Antonaci, Eugenio Mercuri, Maria Sframeli, Tina Duong, Claudio Bruno, Annemarie Rohwer, Jacqueline Montes, Richard S. Finkel, Marika Pane, Darryl C. De Vivo, Enrico Bertini, Giovanni Baranello, Evelin Milev, Roberto De Sanctis, Francesco Muntoni, Sonia Messina, Allan M. Glanzman, Elena S. Mazzone, Massimo Russo

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Spinal, Natural history, Spinal Muscular Atrophies of Childhood, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, Upper Extremity, Neuromuscular disorders, Revised upper limb module, Spinal muscular atrophy, Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, medicine, Humans, Child, Child, Preschool, Disease Progression, Female, Longitudinal Studies, Middle Aged, Preschool, Genetics (clinical), business.industry, SMA, medicine.disease, Relative stability, Large cohort, Settore MED/26 - NEUROLOGIA, Muscular Atrophy, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cardiology, Upper limb, Neurology (clinical), business, Real world data

الوصف: The aim of the study was to establish 24-month changes in a large cohort of type II and III spinal muscular atrophy (SMA) patients assessed with the Revised Upper Limb Module (RULM), a tool specifically developed to assess upper limb function in SMA. We included 107 patients (54 type II and 53 type III) with at least 24-months follow up. The overall RULM 24-month changes showed a mean decline of -0.79 points. The difference between baseline and 24 months was significant in type II but not in type III patients. There was also a difference among functional subgroups but not in relation to age. Most patients had 24-month mean changes within 2 points, with 23% decreasing more than 2 points and 7% improving by >2 points. Our results suggest an overall progressive decline in upper limb function over 24 months. The negative changes were most notable in type II, in non-ambulant type III and with a different pattern of progression, also in non-sitter type II. In contrast, ambulant type III showed relative stability within the 24-month follow up. These findings will help in the interpretation of the real world data collected following the availability of new therapeutic approaches.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::862b23e9e6b08e24fee4b1754d6d00fcTest
http://hdl.handle.net/10807/197786Test

المؤلفون: Gabriele Siciliano, Carmelo Chisari, Sonia Messina, Giovanni Iolascon, Antimo Moretti, Valeria A. Sansone, Tiziana Mongini, Michele Vitacca, Antonio Toscano, Elena Carraro, Pietro Fiore

المساهمون: Iolascon, Giovanni, Vitacca, Michele, Carraro, Elena, Chisari, Carmelo, Fiore, Pietro, Messina, Sonia, Mongini, Tiziana, Moretti, Antimo, Sansone, Valeria A, Toscano, Antonio, Siciliano, Gabriele

المصدر: Neurological Sciences. 41:859-868

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neurology, Adolescent, medicine.medical_treatment, Therapeutic exercise, Dermatology, Disease, Breathing Exercises, Adapted physical activity, Glycogen storage disease type II, ICF, Pompe disease, Rehabilitation, Age of Onset, Bicycling, Child, Clinical Protocols, Exercise Therapy, Glycogen Storage Disease Type II, Humans, Muscle Stretching Exercises, Muscular Diseases, Resistance Training, Exercise, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Quality of life, Medicine, Aerobic exercise, Pulmonary rehabilitation, 030212 general & internal medicine, business.industry, General Medicine, Psychiatry and Mental health, Neurology (clinical), Neurosurgery, Age of onset, business, 030217 neurology & neurosurgery

الوصف: Aerobic exercise, training to sustain motor ability, and respiratory rehabilitation may improve general functioning and quality of life (QoL) in neuromuscular disorders. Patients with late-onset Pompe disease (LOPD) typically show progressive muscle weakness, respiratory dysfunction and minor cardiac involvement. Characteristics and modalities of motor and respiratory rehabilitation in LOPD are not well defined and specific guidelines are lacking. Therefore, we evaluated the role of physical activity, therapeutic exercise, and pulmonary rehabilitation programs in order to promote an appropriate management of motor and respiratory dysfunctions and improve QoL in patients with LOPD. We propose two operational protocols: one for an adapted physical activity (APA) plan and the other for an individual rehabilitation plan, particularly focused on therapeutic exercise (TE) and respiratory rehabilitation.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45f64920c1d3a757eeb197830844621Test
https://doi.org/10.1007/s10072-019-04178-7Test

المؤلفون: Beatrice Bobba, Andrea Lizio, Jacopo Casiraghi, Emilio Albamonte, Carolina Cardella, Elena Carraro, Susanna Pozzi, Valeria A. Sansone, Christian Lunetta

المساهمون: Carraro E., Casiraghi J.L., Bobba B., Lizio A., Cardella C., Albamonte E., Lunetta C., Pozzi S., Sansone V.A.

المصدر: PMR : the journal of injury, function, and rehabilitationREFERENCES. 14(12)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Neuromuscular disease, Adolescent, Physical Therapy, Sports Therapy and Rehabilitation, Young Adult, Wheelchair, Primary outcome, Physical ability, Quality of life, medicine, Humans, Association (psychology), business.industry, Rehabilitation, Outcome measures, Neuromuscular Diseases, medicine.disease, Cross-Sectional Studies, Neurology, Hockey, Wheelchairs, Well-being, Adaptive sports, adaptive athletes, Neuromuscular Diseases, Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, quality of life, health status, Physical therapy, Quality of Life, Neurology (clinical), business, human activities

الوصف: BACKGROUND Participation in sports is known to have positive effects on people's health and psycho-social well-being. Recently, physical activity implications for people with disabilities have been explored, showing promising results on quality of life and self-concept. However, few studies have specifically investigated the effects of participation in adaptive sports on neuromuscular patients' quality of life. OBJECTIVE To evaluate differences in psycho-social well-being between people affected by a neuromuscular disease who play wheelchair hockey and those who do not. Individuals playing an adaptive sport would report better quality of life, higher physical self-efficacy scores and more effective coping strategies, as assessed by self-reported measures. DESIGN Cross-sectional study. SETTING Data were collected during clinical follow-ups at the NEMO Clinical Center in Milan (Italy). PARTICIPANTS A total of 25 patients affected by neuromuscular diseases, aged 18 to 40 years, participated in the study. MAIN OUTCOME MEASURES The primary outcome was to compare quality of life between groups. Secondary outcomes were the comparisons of physical self-efficacy and coping strategies through self-reported measures. RESULTS Wheelchair hockey players scored significantly higher on the Quality of Life Index (specifically on the health/functioning and psychological/spiritual sub-scales) and reported better physical self-efficacy and perceived physical ability compared to the control group (i.e., patients who do not participate in any adaptive sport), controlling for age and pathology. On the contrary, no difference was found for coping strategies between the two groups. CONCLUSIONS This study identified a significant association between participation in wheelchair hockey and improved physical and psychological well-being of people affected by neuromuscular diseases, compared to those who are not involved in adaptive sports. This article is protected by copyright. All rights reserved.

وصف الملف: ELETTRONICO

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac12c32472f7c94df67883ca12498071Test
https://pubmed.ncbi.nlm.nih.gov/34773450Test

المؤلفون: Gloria, Ferrantini, Giorgia, Coratti, Roberta, Onesimo, Simona, Lucibello, Sarah, Bompard, Ida, Turrini, Graziamaria, Cicala, Michela, Caprarelli, Maria Carmela, Pera, Chiara, Bravetti, Beatrice, Berti, Valentina, Giorgio, Claudio, Bruno, Noemi, Brolatti, Chiara, Panicucci, Adele, D'Amico, Antonella, Longo, Chiara, Leoni, Valeria A, Sansone, Emilio, Albamonte, Sonia, Messina, Maria, Sframeli, Enrico, Bertini, Marika, Pane, Eugenio, Mercuri

المصدر: European journal of pediatrics. 181(5)

مصطلحات موضوعية: Adult, Spinal, Adolescent, Body Mass Index, Muscular Atrophy, Spinal, Young Adult, Neonate, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Nutritional status, Humans, Longitudinal Studies, Preschool, Child, Children, Retrospective Studies, Body Weight, Infant, Newborn, Infant, Spinal muscular atrophy, Newborn, Muscular Atrophy, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Pediatrics, Perinatology and Child Health

الوصف: The aim of this retrospective study was to review body mass index (BMI) in a large cohort of Italian pediatric type 2 spinal muscular atrophy (SMA) patients, aged between 0 and 20 years and to establish possible differences in relation to a number of variables such as ventilation, motor function, and survival motor neuron 2 gene copies. Cross-sectional data were collected from 102 patients for a total of 344 visits. Standard growth charts for height and weight were used as reference, with age adjusted BMI calculated using the Center for Disease and Prevention Children’s BMI Tool. In the 344 visits, weight ranged between 3.90 and 83 kg, and the BMI between 8.4 and 31.6 with a BMI/age z-scores z-scores > + 2SD in 9% of the measurements. The BMI/age z-scores were relatively stable z-scores after the age of 13. A difference on the BMI/age z-scores was found among the different age subgroups (z-scores and gender were significantly contributing to the changes while other variables were not.Conclusion: Our results confirm that careful surveillance of weight and BMI/age z-scores is needed in type 2 SMA. Further studies, including assessments of chewing and swallowing and of lean/fat body mass, will help to better understand the possible mechanisms underlying weight issues. What is Known:• Feeding difficulties have been reported in a few studies and were invariably found in patients with type 1 SMA.• Type 2 SMA patients often have low BMI with a relevant number of patients requiring tube feeding. What is New:• Reduction in BMI/age z-score overtime appeared to depend on baseline BMI/age z-score and gender.• Patients with a low BMI/age z-score were at higher risk of developing further reduction.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4d5614481d28dbde1c8ae8b2533f2f1Test
https://pubmed.ncbi.nlm.nih.gov/35048179Test

المؤلفون: Michael Hunter, Elizabeth Luebbe, Christine Zizzi, Craig M. Zaidman, Emma Ciafaloni, Valeria A. Sansone, Nicholas E. Johnson, Phillip Mongiovi, Nuran Dilek, Connie Garland, Chad Heatwole, Michael P. McDermott, John T. Kissel

المصدر: MusclenerveREFERENCES. 63(6)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Physiology, Intraclass correlation, Disease, 030105 genetics & heredity, Severity of Illness Index, Muscular Atrophy, Spinal, 03 medical and health sciences, Cellular and Molecular Neuroscience, Young Adult, 0302 clinical medicine, Cronbach's alpha, Quality of life, Physiology (medical), medicine, Humans, Patient Reported Outcome Measures, Disease burden, Reliability (statistics), Aged, business.industry, Spinal muscular atrophy, Middle Aged, SMA, medicine.disease, Cross-Sectional Studies, Physical therapy, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصف: INTRODUCTION The Spinal Muscular Atrophy Health Index (SMA-HI) is a multifaceted, disease-specific, patient-reported outcome to measure an SMA patient's perception of their disease burden. In preparation for upcoming therapeutic trials, we examine the validity, reliability, and usability of the SMA-HI in adults, teenagers, and children with SMA. METHODS Using data from a cross-sectional study of 359 international adult patients with SMA, we identified the most relevant symptoms to include in the SMA-HI. We utilized factor analysis, patient interviews with adults and minors (age 8-15 years), known-group validity testing, and test-retest reliability assessments to evaluate and refine the SMA-HI. RESULTS The SMA-HI measures overall disease burden and 15 areas of SMA health. Fifteen adult patients and five patients, age 8 to 15 years, participated in semistructured qualitative interviews and found the SMA-HI to be comprehensive, easily completed, and to have clear meaning. The final SMA-HI and its subscales demonstrated good internal consistency (Cronbach α = 0.77-0.96), high test-retest reliability (intraclass correlation coefficient = 0.60-0.96), and an ability to differentiate between SMA groups with different disease severities affecting areas such as employment and ambulation (P

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ce4d21813b3a9799551b1f25d815d3Test
https://pubmed.ncbi.nlm.nih.gov/33711174Test

المؤلفون: Guja Astrea, Kiera Berggren, Jennifer N. Baldwin, Francesca Salmin, Kameron Bates, Nicholas E. Johnson, Jacopo Casiraghi, Kellen H. Quigg, Joshua Burns, Federica Ricci, Adele DʼAmico, Melissa McIntyre, Marnee J. McKay, Craig Campbell, Valeria A. Sansone

المصدر: Paediatrics Publications
Muscle Nerve

مصطلحات موضوعية: Male, 0301 basic medicine, Physiology, Functional testing, mobility measures, 030105 genetics & heredity, Grip strength, Child Development, 0302 clinical medicine, Activities of Daily Living, Myotonic Dystrophy, Child, education.field_of_study, Communication, Motor Skills, Child, Preschool, Cohort, Disease Progression, Female, Six Minute Walk Test, Cohort study, medicine.medical_specialty, Adolescent, congenital myotonic dystrophy, functional outcomes, myotonic dystrophy, Population, Walk Test, Article, Myotonin-Protein Kinase, 03 medical and health sciences, Cellular and Molecular Neuroscience, Physiology (medical), medicine, Humans, Muscle Strength, Social Behavior, education, business.industry, Infant, Newborn, Infant, Vineland Adaptive Behavior Scale, Clinical trial, Physical therapy, Observational study, Neurology (clinical), Trinucleotide Repeat Expansion, business, human activities, 030217 neurology & neurosurgery

الوصف: INTRODUCTION/AIMS: We aim to describe 12-month functional and motor outcome performance in a cohort of participants with congenital myotonic dystrophy (CDM). METHODS: CDM participants performed the Six Minute Walk Test (6MWT), 10 Meter Run, 4 Stair Climb, Grip Strength and Lip Force at baseline and 12 month visits. Parents completed the Vineland Adaptive Behavior Scale. RESULTS: Forty-seven participants, aged 0 to 13 years old, with CDM were enrolled. 6MWT, 10 Meter Run and 4 Stair Climb were completed in >85% of eligible participants. The only significant difference between mean baseline and 12-month performance was an improvement in 6MWT in children 3–6 years old (p=0.008). This age group also had the largest mean % improvement in performance in all other timed functional testing. In children >7 years, the slope of change on timed functional tests decreased or plateaued, with further reductions in performance in children ≥10 years. Participants with CTG repeat lengths 1000. DISCUSSION: 6MWT, 10 Meter Run and 4 Stair Climb were the most feasible measures. Our findings are consistent with the clinical profile and prior cross-sectional data, helping to establish reasonable expectations of functional trajectories in this population as well as identifying points in which therapeutic interventions may be best studied. Further study of outcomes in children >10 years old and

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecefca0967ee8b41a6b80aa26df57b6Test
https://ir.lib.uwo.ca/paedpub/1436Test

المؤلفون: Valeria A, Sansone, Emilio, Albamonte, Francesca, Salmin, Jacopo, Casiraghi, Alice, Pirola, Massimo, Bettinelli, Fabrizio, Rao, Luca, Mancini, Nicola, Tovaglieri, Fausto, Fedeli, Paolo, Stoia, Maurizio, Heinen, Valeria, Cozzi, Elena, Carraro, Christian, Lunetta, Alessandra, Di Bari, Eugenio, Mercuri, Cristina, Ponzanelli

المصدر: Neurological Sciences. 40:327-332

مصطلحات موضوعية: medicine.medical_specialty, Patient Dropouts, Neurology, Adolescent, Oligonucleotides, Dermatology, Intrathecal, Spinal Puncture, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Multidisciplinary approach, medicine, Humans, Family, 030212 general & internal medicine, Geography, Medical, Child, Injections, Spinal, Patient Care Team, Delivery of Health Care, Integrated, business.industry, Infant, General Medicine, Neuromuscular clinic, SMA, Spine, Integrated care, Psychiatry and Mental health, Neuroprotective Agents, Scoliosis, Child, Preschool, Physical therapy, Nusinersen, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery

الوصف: Nusinsersen is now available in Italy for all SMA types. We describe the experience with intrathecal treatment with nusinersen in 50 patients with SMA at the NEMO Center (NEuroMuscular Omniservice Clinical Center) in Milan, a neuromuscular patient-centered clinic hosted within Niguarda Hospital, a National Public General Hospital. Our results indicate that the pathway of care described outweighs the burden due to the repeated intrathecal injections. Irrespective of age and severity, the treatment is feasible, accessible, and replicable provided that there is a multidisciplinary team having experience and training in SMA.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23815d6655b601f7c9e8f79463b46e3fTest
https://doi.org/10.1007/s10072-018-3622-9Test

المؤلفون: Jacqueline Montes, Marika Pane, Enrico Bertini, Francesco Muntoni, Maria Carmela Pera, Anna Lia Frongia, Amy Pasternak, Eugenio Mercuri, Valeria A. Sansone, John W. Day, Maria Sframeli, Francesca Salmin, Adele D'Amico, Matthew Civitello, Simona Lucibello, Sally Dunaway Young, Claudio Bruno, Laura Antonaci, Giorgia Coratti, Sara Carnicella, Tina Duong, Darryl C. De Vivo, Richard S. Finkel, Allan M. Glanzman, Sonia Messina, Paola Tacchetti, Basil T. Darras

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Cohort Studies, Upper Extremity, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Internal medicine, Age related, Nusinersen, medicine, Functional outcome measures, Hammersmith Functional Motor Scale Expanded, Revised Upper Limb Module, Spinal Muscular Atrophy, Age Factors, Child, Child, Preschool, Female, Humans, Linear Models, Multivariate Analysis, Treatment effect, Preschool, Genetics (clinical), Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, SMA, Spinal muscular atrophy type II, Natural history, 030104 developmental biology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Cohort, Upper limb, Neurology (clinical), business, 030217 neurology & neurosurgery

الوصف: Previous natural history studies suggest that type II SMA patients remain stable over one year but show some progression over two years. Since nusinersen approval, there has been increasing attention to identify more specific age-related changes. The aim of the study was to establish 12-month changes in a cohort of pediatric type II SMA treated with nusinersen and to establish possible patterns of treatment effect in relation to different variables such as age, baseline value and SMN2 copy number. The Hammersmith Functional Motor Scale Expanded and the Revised Upper Limb Module were performed at T0 and 12 months after treatment (T12). Data in treated patients were compared to available data in untreated patients collected by the same evaluators.Seventy-seven patients of age between 2.64 and 17.88 years (mean:7.47, SD:3.79) were included. On t-test there was an improvement, with increased mean scores between T0 and T12 on both scales (p 0.001). Using multivariate linear regression analysis, age and baseline scores were predictive of changes on both scales (p 0.05) while SMN2 copy number was not. Differences were also found between study cohort and untreated data on both scales (p 0.001). At 12 months, an increase in scores was observed in all the age subgroups at variance with natural history data. Our real-world data confirm the treatment effect of nusinersen in pediatric type II SMA patients and that the data interpretation should take into account different variables. These data confirm and expand the ones already reported in the Cherish study.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506d0065b03b941235c643e5f4d33786Test
http://hdl.handle.net/11567/1087190Test