CLINICAL STUDIES AND QUALITY OF LIFE: P.207Cognitive assessment in spinal muscular atrophy type 1-2 using eye tracking system: results of a prospective multicenter study and comparison with age matched control and Down syndrome cohorts

Abstract

Spinal muscular atrophy (SMA) is a devastating inherited disorder caused by ubiquitous deficiency in the SMN protein. SMA main feature is the progressive loss of motor activity caused by motor neurons degeneration. Recent evidence suggests that SMA is a systemic disease. In the brain for example SMN is expressed in many cell types in addition to motor neurons and brain morphology changes have been described. Symptoms of signs of a systemic disease may likely become increasingly apparent in children treated with SMN modulating therapies, where neuromuscular symptoms are alleviated and life extended. Literature on cognitive aspects of SMA type 1-2 is however poor and divergent (von Gotard et al.2002; Polido et al 2017) We recently developed an eye tracking system (Tobii®) for the assessment of cognitive functions in SMA patients belonging to the severe end of the spectrum, containing 7 tasks across cognitive functioning that we presented in the form of an abstract at WMS 2018 (Mendoza). We present the updated results of this study, adding to two initial SMA (type 1 and 2) and control cohort a third arm composed of age matched patients suffering from Down Syndrome (DS) with evaluated Intellectual deficiency. Sixty children from 2 to 12 years old were enrolled: 15 SMA type 1, 10 SMA type 2, 15 DS and 25 age and sex matched control patients. Tests took place in two sessions of 30 minutes for children from 2 to 4 years and in 1 session of 30 to 60 minutes for children from 5 to 12 years. The methodology and the results of the all cohort will be presented. Preliminary results show that this methodological approach is sensitive to detect early cognitive limitations. In conclusion, the developed protocol aims at validating eye tracking assessment tool for cognitive functions in SMA type 1 and 2. This study will help to adapt the overall management of SMA patients and to evaluate the impact on cognition of future treatment approaches.