Search

Your search keyword '"Grazia, Zappa"' showing total 3 results
Start Over Author "Grazia, Zappa"
3 results on '"Grazia, Zappa"'

1. Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1

Author

Grazia Zappa, Antonella LoMauro, Giovanni Baranello, Emilia Cavallo, Priscilla Corti, Chiara Mastella, and Maria Antonella Costantino

Subjects
SMA type 1, Language, Speech, Cognitive development, Children, Spinal muscular atrophy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

Abstract Background Spinal muscular atrophy (SMA) is a chronic, neuromuscular disease characterized by degeneration of spinal cord motor neurons, resulting in progressive muscular atrophy and weakness. SMA1 is the most severe form characterized by significant bulbar, respiratory, and motor dysfunction. SMA1 prevents children from speaking a clearly understandable and fluent language, with their communication being mainly characterized by eye movements, guttural sounds, and anarthria (type 1a); severe dysarthria (type 1b); and nasal voice and dyslalia (type 1c). The aim of this study was to analyze for the first time cognitive functions, language comprehension, and speech in natural history SMA1 children according to age and subtypes, to develop cognitive and language benchmarks that provide outcomes for the clinical medication trials that are changing SMA1 course/trajectory. Methods This is a retrospective study including 22 children with SMA1 (10 affected by subtype 1a-1b: AB and 12 by 1c: C) aged 3–11 years in clinical stable condition with a coded way to communicate “yes” and “no”. Data from the following assessments have been retrieved from patient charts: one-dimensional Raven test (RCPM), to evaluate cognitive development (IQ); ALS Severity Score (ALSSS) to evaluate speech disturbances; Brown Bellugy modified for Italian standards (TCGB) to evaluate language comprehension; and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) to assess motor functioning. Results SMA 1AB and 1C children were similar in age, with the former characterized by lower CHOP-INTEND scores compared to the latter. All 22 children had collaborated to RCPM and their median IQ was 120 with no difference (p = 0.945) between AB and C. Global median score of the speech domain of the ALSSS was 5; however, it was 2 in AB children, being significantly lower than C (6.5, p < 0.001). TCGB test had been completed by 13 children, with morphosyntactic comprehension being in the normal range (50). Although ALSSS did not correlate with both IQ and TCGB, it had a strong (p < 0.001) correlation with CHOP-INTEND described by an exponential rise to maximum. Conclusions Although speech and motor function were severely compromised, children with SMA1 showed general intelligence and language comprehension in the normal range. Speech impairment was strictly related to global motor impairment.

Published
2021
Full Text
View/download PDF

2. An observational study of functional abilities in infants, children, and adults with type 1 SMA

Author

Pane, Marika, Palermo, Concetta, Messina, Sonia, Sansone, Valeria A, Bruno, Claudio, Catteruccia, Michela, Sframeli, Maria, Albamonte, Emilio, Pedemonte, Marina, D'Amico, Adele, Brigati, Giorgia, De Sanctis, Roberto, Coratti, Giorgia, Lucibello, Simona, Bertini, Enrico Silvio, Vita, Giuseppe, Tiziano, Francesco Danilo, Mercuri, Eugenio Maria, Italian EAP Working Group: Daniela Leone, Gloria, Ferrantini, Beatrice, Berti, Pera, Maria Carmela, Nicola, Forcina, Sara, Carnicella, Giulia, Norcia, Piastra, Marco, Genovese, Orazio, Pedicelli, Alessandro, Paola, Cimbolli, Antonio, Versaci, Imma, Rulli, Eloisa, Gitto, Cristina, Faraone, Stefania La Foresta, Maria, Macrì, Giulia, Colia, Anna Maria Bonetti, Adelina, Carlesi, Renato, Cutrera, Maria Beatrice Chiarini, Marta, Ferretti, Alberto, Garaventa, Giovanni, Montobbio, Carlo, Gandolfo, Valentina, Iurilli, Paola, Tacchetti, Emilia, Bobeica, Valentina, Lanzillotta, Alice, Pirola, Sara, Lupone, Elisa De Mattia, Elisa, Falcier, Fabrizio, Rao, Elisabetta, Roma, Caterina, Conti, Francesca, Salmin, Cristina, Grandi, Fausto, Fedeli, Luca, Mancini, Nicola, Tovaglieri, Paolo, Stoia, Maurizio, Heinen, Valeria, Cozzi, Beatrice, Travaglia, Emma, Mizzotti, Daniela, Lauro, Luca, Binetti, Anita, Pallara, Simona, Spinoglio, Maria Letizia Solinas, Grazia, Zappa, Francesca, Penno, Cristina, Ponzanelli, and Casiraghi, Jacopo Luca

Subjects
Male, Pediatrics, medicine.medical_specialty, Activities of daily living, Cross-sectional study, medicine.medical_treatment, Oligonucleotides, Neurological examination, Spinal Muscular Atrophies of Childhood, Severity of Illness Index, Cohort Studies, 03 medical and health sciences, Disability Evaluation, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Severity of illness, Activities of Daily Living, medicine, Humans, 030212 general & internal medicine, SMA, Age of Onset, Child, Interactive Ventilatory Support, Preschool, medicine.diagnostic_test, business.industry, Spinal muscular atrophy type 1, Phenotype, SMN2 copies, Survival, Gastrostomy, Tracheostomy, Noninvasive ventilation, Infant, Spinal muscular atrophy, medicine.disease, Gastrostomy, Survival of Motor Neuron 1 Protein, Settore MED/26 - NEUROLOGIA, Cross-Sectional Studies, Child, Preschool, Mutation, Female, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, Cohort study
Abstract

ObjectiveTo report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy.MethodsWe included 122 patients, of age ranging between 3 months and 22 years, 1 month. More than 70% (85/122) were older than 2 years and 25% (31/122) older than 10 years. Patients were classified according to the severity of phenotype and to the number of SMN2 copies.ResultsPatients with the more common and the most severe phenotype older than 2 years were, with few exceptions, on noninvasive ventilation and, with increasing age, more often had tracheostomy or >16-hour ventilation and a gastrostomy inserted. In contrast, 25 of the 28 patients with the mildest phenotype older than 2 years had no need for tracheostomy or other ventilatory or nutritional support. In patients older than 2 years, the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders scores were generally lower compared to those found in younger patients and showed distinct levels of functional abilities according to the severity of the phenotype. Similar findings were also observed on the Hammersmith Infant Neurological Examination.ConclusionsOur findings confirm that, after the age of 2 years, patients with type 1 spinal muscular atrophy generally survive only if they have gastrostomy and tracheostomy or noninvasive ventilation >16 hours and have low scores on the functional scales. More variability, however, can be expected in those with the mildest phenotype, who achieve head control. These data provide important baseline information at the time treatments are becoming available.

Published
2018

3. Expanded access program with Nusinersen in SMA type I in Italy: Strengths and pitfalls of a successful experience

Author

Emilia Bobeica, Cristina Ponzanelli, Paolo Stoia, Emilio Albamonte, Valeria A. Sansone, Fabrizio Rao, Claudio Bruno, Cristina Faraone, Danilo Tiziano, Valeria Cozzi, Marika Pane, Elisa De Mattia, Anna Maria Bonetti, Maria Sframeli, Marcello Villanova, Orazio Genovese, Anna Mandelli, Chiara Mastella, Marco Piastra, Sara Luppone, Francesca Penno, Adele D'Amico, Sonia Messina, Anna Ambrosini, Alessandro Pedicelli, Antonio Versaci, Stefania La Foresta, Luca Binetti, Alessia D'Agostino, Nicola Forcina, Giulia Colia, Elisa Falcier, Maria Macrì, Maurizio Heinen, Luca Mancini, Jacopo Casiraghi, Maria Beatrice Chiarini, Carlo Gandolfo, Concetta Palermo, Marta Ferretti, Maria Letizia Solinas, Giuseppe Vita, Imma Rulli, Giovanni Montobbio, Anita Pallara, Alice Pirola, Daniela Leone, Michela Catteruccia, Grazia Zappa, Renato Cutrera, Paola Tacchetti, Adelina Carlesi, Eloisa Gitto, Daniela Lauro, Alberto Fontana, Valentina Iurilli, Emma Mizzotti, Beatrice Travaglia, Enrico Bertini, Eugenio Mercuri, Fausto Fedeli, Marina Pedemonte, Roberto De Sanctis, Alberto Garaventa, and Simona Spinoglio

Subjects
0301 basic medicine, MEDLINE, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Pediatrics, 03 medical and health sciences, 0302 clinical medicine, Settore MED/41 - ANESTESIOLOGIA, Medicine, Humans, Genetics (clinical), Medical education, business.industry, Pediatrics, Perinatology and Child Health, Neurology, Neurology (clinical), Perinatology and Child Health, SMA, Survival of Motor Neuron 1 Protein, 030104 developmental biology, Italy, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Expanded access, Nusinersen, Expanded access program, business, 030217 neurology & neurosurgery
Published
2017

Catalog

Books, media, physical & digital resources
See catalog results