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

Marika Pane, Concetta Palermo, Sonia Messina, Valeria A. Sansone, Claudio Bruno, Michela Catteruccia, Maria Sframeli, Emilio Albamonte, Marina Pedemonte, Adele D'Amico, Giorgia Brigati, Roberto De Sanctis, Giorgia Coratti, Simona Lucibello, Enrico Bertini, Giuseppe Vita, Francesco Danilo Tiziano, Eugenio Mercuri

Research output: Contribution to journalArticle

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Abstract

Objective To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. Methods We 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. Results Patients 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. Conclusions Our 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.

Original languageEnglish
Pages (from-to)e696-e703
JournalNeurology
Volume91
Issue number8
DOIs
Publication statusPublished - Aug 21 2018

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Observational Studies
Tracheostomy
Phenotype
Spinal Muscular Atrophies of Childhood
Noninvasive Ventilation
Gastrostomy
Nutritional Support
Neurologic Examination
Ventilation
Head

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Pane, M., Palermo, C., Messina, S., Sansone, V. A., Bruno, C., Catteruccia, M., ... Mercuri, E. (2018). An observational study of functional abilities in infants, children, and adults with type 1 SMA. Neurology, 91(8), e696-e703. https://doi.org/10.1212/WNL.0000000000006050

An observational study of functional abilities in infants, children, and adults with type 1 SMA. / 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; Vita, Giuseppe; Tiziano, Francesco Danilo; Mercuri, Eugenio.

In: Neurology, Vol. 91, No. 8, 21.08.2018, p. e696-e703.

Research output: Contribution to journalArticle

Pane, M, Palermo, C, Messina, S, Sansone, VA, Bruno, C, Catteruccia, M, Sframeli, M, Albamonte, E, Pedemonte, M, D'Amico, A, Brigati, G, De Sanctis, R, Coratti, G, Lucibello, S, Bertini, E, Vita, G, Tiziano, FD & Mercuri, E 2018, 'An observational study of functional abilities in infants, children, and adults with type 1 SMA', Neurology, vol. 91, no. 8, pp. e696-e703. https://doi.org/10.1212/WNL.0000000000006050
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 ; Vita, Giuseppe ; Tiziano, Francesco Danilo ; Mercuri, Eugenio. / An observational study of functional abilities in infants, children, and adults with type 1 SMA. In: Neurology. 2018 ; Vol. 91, No. 8. pp. e696-e703.
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abstract = "Objective To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. Methods We 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. Results Patients 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. Conclusions Our 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.",
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AU - Palermo, Concetta

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AU - Bruno, Claudio

AU - Catteruccia, Michela

AU - Sframeli, Maria

AU - Albamonte, Emilio

AU - Pedemonte, Marina

AU - D'Amico, Adele

AU - Brigati, Giorgia

AU - De Sanctis, Roberto

AU - Coratti, Giorgia

AU - Lucibello, Simona

AU - Bertini, Enrico

AU - Vita, Giuseppe

AU - Tiziano, Francesco Danilo

AU - Mercuri, Eugenio

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N2 - Objective To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. Methods We 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. Results Patients 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. Conclusions Our 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.

AB - Objective To report cross-sectional clinical findings in a large cohort of patients affected by type 1 spinal muscular atrophy. Methods We 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. Results Patients 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. Conclusions Our 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.

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