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

Italian EAP working Group

Research output: Contribution to journalArticle

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
Number of pages8
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

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An observational study of functional abilities in infants, children, and adults with type 1 SMA. / Italian EAP working Group.

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

Research output: Contribution to journalArticle

Italian EAP working Group. / 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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title = "An observational study of functional abilities in infants, children, and adults with type 1 SMA",
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.",
author = "{Italian EAP working Group} and Marika Pane and Concetta Palermo and Sonia Messina and Sansone, {Valeria A} and Claudio Bruno and Michela Catteruccia and Maria Sframeli and Emilio Albamonte and Marina Pedemonte and Adele D'Amico and Giorgia Brigati and {de Sanctis}, Roberto and Giorgia Coratti and Simona Lucibello and Enrico Bertini and Giuseppe Vita and {Danilo Tiziano}, Francesco and Eugenio Mercuri",
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T1 - An observational study of functional abilities in infants, children, and adults with type 1 SMA

AU - Italian EAP working Group

AU - Pane, Marika

AU - Palermo, Concetta

AU - Messina, Sonia

AU - Sansone, Valeria A

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 - Danilo Tiziano, Francesco

AU - Mercuri, Eugenio

N1 - © 2018 American Academy of Neurology.

PY - 2018/8/21

Y1 - 2018/8/21

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.

U2 - 10.1212/WNL.0000000000006050

DO - 10.1212/WNL.0000000000006050

M3 - Article

VL - 91

SP - e696-e703

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 8

ER -