Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study

Bianca Buchignani, Gianpaolo Cicala, Francesca Cumbo, Martina Ricci, Anna Capasso, Chiara Ticci, Sara Mazzanti, Noemi Brolatti, Michele Tosi, Claudia Dosi, Laura Antonaci, Giorgia Coratti, Maria Carmela Pera, Daniela Leone, Concetta Palermo, Beatrice Berti, Anna Lia Frongia, Michele Sacchini, Claudio Bruno, Riccardo MassonAdele D’Amico, Roberta Battini, Marika Pane, Eugenio Maria Mercuri

Research output: Contribution to journalArticle


Objective The aim of this study was to assess early language acquisitions in treated individuals with spinal muscular atrophy (SMA) type 1 and in infants identified by newborn screening (NBS). Methods Parents of SMA individuals aged between 8 and 36 months were asked to fill in the MacArthur-Bates Communicative Development Inventory (MB-CDI) that assesses comprehension, gesture and expressive skills. A follow-up assessment was performed in 21 of the 36. Results The MB-CDI was completed by parents of 24 type 1 and 12 infants identified by NBS. Comprehension skills were preserved in 81% of the type 1 SMA and in 87% infants identified by NBS. Gesture abilities were <5th centile in 55% of the type 1 SMA and in none of those identified by NBS. Lexical expressions were <5th centile in more than 80% type 1 SMA and in 50% of infants identified by NBS. At follow-up, despite an increase in lexical expression skills, the scores remained below the fifth centile in 43% type 1 SMA and in 86% of infants identified by NBS. Conclusions These results suggest that language and communication development may follow a similar pattern to that observed in motor function with the possibility to develop skills (eg, ability to say clear words) that are not usually present in untreated infants but with a level of performance that does not reach that of their typically developing peers.
Original languageEnglish
Pages (from-to)395-401
Number of pages7
JournalArchives of Disease in Childhood
Publication statusPublished - 2024


  • Child Development
  • Infant Development
  • Neurology
  • Paediatrics
  • Psychology


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