Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy

Marika Pane, Francesco Danilo Tiziano, Eugenio Maria Mercuri, Roberto De Sanctis, Giorgia Coratti, Maria Carmela Pera, Emanuela Abiusi, Simona Lucibello

Risultato della ricerca: Contributo in rivistaArticolo in rivista

23 Citazioni (Scopus)

Abstract

The advent of clinical trials has highlighted the need for natural history studies reporting disease progression in type 1 spinal muscular atrophy. The aim of this study was to assess functional changes using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scale in a cohort of type 1 infants. Nutritional and respiratory longitudinal data were also recorded. Patients were classified according to the severity of the phenotype and age of onset. SMN2 copies were also assessed. Twenty patients were included, eight with early onset most severe phenotype, eight with the more typical type 1 phenotype and 4, who achieved some head control, with a milder phenotype. Both baseline values and trajectories of progression were different in the three subgroups (p = 0.0001). Infants with the most severe phenotype had the lowest scores (below 20) on their first assessment and had the most rapid decline. Those with the typical phenotype had scores generally between 20 and 40 and also had a fast decline. The infants with the milder phenotype had the highest scores, generally above 35, and a much slower deterioration. Infants with three SMN2 copies had an overall milder phenotype and milder progression while two SMN2 copies were found in all three subgroups.
Lingua originaleEnglish
pagine (da-a)24-28
Numero di pagine5
RivistaNeuromuscular Disorders
Volume28
DOI
Stato di pubblicazionePubblicato - 2018

Keywords

  • Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
  • Genetics (clinical)
  • Neurology
  • Neurology (clinical)
  • Neuromuscular disorders
  • Outcome measures
  • Pediatrics, Perinatology and Child Health
  • Spinal Muscular Atrophy
  • Werdnig-Hoffman disease

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