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

• Published in: Archives of disease in childhood Vol. 109; no. 5; pp. 395 - 401
• Main Authors: Buchignani, Bianca, Cicala, Gianpaolo, Cumbo, Francesca, Ricci, Martina, Capasso, Anna, Ticci, Chiara, Mazzanti, Sara, Brolatti, Noemi, Tosi, Michele, Dosi, Claudia, Antonaci, Laura, Coratti, Giorgia, Pera, Maria Carmela, Leone, Daniela, Palermo, Concetta, Berti, Beatrice, Frongia, Anna Lia, Sacchini, Michele, Bruno, Claudio, Masson, Riccardo, D’Amico, Adele, Battini, Roberta, Pane, Marika, Mercuri, Eugenio
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health 01.05.2024; BMJ Publishing Group LTD
• Subjects: Asymptomatic; Atrophy; Autism; Caregivers; Child Development; Communication; Infant Development; Infants; Language; Language acquisition; Language Skills; Longitudinal Studies; Medical screening; Neurology; Newborn babies; Original research; Ostomy; Paediatrics; Pediatrics; Psychology; Questionnaires; Spinal muscular atrophy; Young Children; Neurology; Child Development; Infant Development; Psychology; Paediatrics
• ISSN: 0003-9888; 1468-2044
• DOI: 10.1136/archdischild-2023-326613

ObjectiveThe 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).MethodsParents 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.ResultsThe 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.ConclusionsThese 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.