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Communicative development inventory in type 1 and presymptomatic infants with spinal muscular atrophy: a cohort study
  1. Bianca Buchignani1,2,
  2. Gianpaolo Cicala2,3,
  3. Francesca Cumbo4,
  4. Martina Ricci2,3,
  5. Anna Capasso2,3,
  6. Chiara Ticci5,
  7. Sara Mazzanti6,
  8. Noemi Brolatti7,
  9. Michele Tosi4,
  10. Claudia Dosi6,
  11. Laura Antonaci2,
  12. Giorgia Coratti2,3,
  13. Maria Carmela Pera2,3,
  14. Daniela Leone2,
  15. Concetta Palermo2,
  16. Beatrice Berti2,
  17. Anna Lia Frongia2,
  18. Michele Sacchini5,
  19. Claudio Bruno7,8,
  20. Riccardo Masson6,
  21. Adele D’Amico4,
  22. Roberta Battini9,10,
  23. Marika Pane2,3,
  24. Eugenio Mercuri2,3
  1. 1 Department of Translational Research and of New Surgical and Medical Technologies, University of Pisa, Pisa, Italy
  2. 2 Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Roma, Italy
  3. 3 Pediatric Neurology, Università Cattolica del Sacro Cuore, Roma, Italy
  4. 4 Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
  5. 5 SOC Malattie Metaboliche e Muscolari Ereditarie, Meyer Children’s Hospital IRCCS, Firenze, Italy
  6. 6 Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy
  7. 7 Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy
  8. 8 Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genova, Italy
  9. 9 Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Calambrone, Italy
  10. 10 Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
  1. Correspondence to Professor Eugenio Mercuri, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Roma 00168, Italy; eugeniomaria.mercuri{at}


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.

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

Data availability statement

Data are available upon reasonable request. Data will be available for academic collaborations.

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Data availability statement

Data are available upon reasonable request. Data will be available for academic collaborations.

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  • Contributors BB, FC, AC, MR, AD'A, RB, MP and EM contributed to the conception and design of the study. BB, GCi, MR, AC, GCo, MP and EM contributed to drafting the text or preparing the figures. FC, CT, SM, NB, MT, CD, LA, MCP, DL, CP, BBe, ALF, MS, CB, RM, AD'A and RB contributed to revising the paper critically. BB, GCi, MR, AC, FC, CT, SM, NB, MT, CD, LA, GCo, MCP, DL, CP, BBe, ALF, MS, CB, RM, AD'A, RB, MP and EM participated in the acquisition and analysis of data. All authors approved the final version to be published and agree to be accountable for all aspects of the work. the guarantor of the present research article, accepts the full responsibility for the work and is the conduct of the study, had access to the data, and controlled the decision to publish.

  • Funding GCo, MCP and EM are funded by grant from the Italian Ministry of Health (GR-2021-12374579, GR-2018-12365706 and RF-2019-12370334, respectively). RB is partially supported by the Italian Ministry of Health Grant RC 2023 to IRCCS Stella Maris Foundation.

  • Competing interests GC, MR, CT, AC, MCP, GCo, RM and AD'A report personal fees from Biogen, Roche and Novartis outside the submitted work. MP is part of advisory boards for Biogen, Roche, AveXis and Novartis. EM is part of advisory boards for Biogen, Roche, AveXis, Novartis, Scholar Rock, Epirium, Cytokinetics and NMD Pharma.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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