Background: Swallowing is one of the most important aspects in the care of type 1 spinal muscular atrophy.
Main text:The aim of this paper is to describe the development of a new tool specifically designed to record different aspects related to oral abilities, swallowing and feeding in young type1 SMA patients. We also report its application to a cohort of type 1 infants to identify possible changes during the first 24 months of life. The new tool includes a checklist with 12 questions for carers and a classification of levels of impairment.
The scale was retrospectively used in 24 type 1 patients (8 females and 16 males,age range from2.3 to 24.1 months (average age: 10.8 months), classified according to the Dubowitz's decimal classification into 1.1 (n=8); 1.5 (n=8); 1.9 (n=8). There was a significant difference among the 3 subtypes both at baseline and at follow up (p<0.001). Type 1 infants had very low scores from the age of 3 months and a rapid deterioration already by 6 months; type 1.5 infants had a more variable progression but by 9 months 80% had the lowest scores. Patients with type 1.9 had better scores until the age of 1 year and had an overall better outcome.
Conclusion: Our results suggest that the new tool may help to routinely capture changes over time in type 1 infants and that the trajectories of progression reflect the overall severity of the disease. The items assessing fatigue during the nursing sessions were the most frequently impaired even in infants who did not have any other obvious clinical sign of swallowing difficulties.