SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.86Cognitive assessment in spinal muscular atrophy type 1-2 using eye tracking system

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 leading to muscle atrophy. Recent evidence suggests that SMA is a systemic disease. In the brain SMN is expressed in many cell types in addition to motoneurons. Brain morphology changes have been described, and circadian dysregulation, abnormal fatty acid metabolism have been observed. Symptoms of signs of a systemic disease may likely become increasingly apparent in treated children treated, where neuromuscular symptoms are alleviated and life extended. Literature on cognitive aspects of SMA type 1-2 is poor and divergent. Indeed, physical impairments make usual IQ tests often unusable in many SMA children. Therefore, we developed an eye tracking system (Tobii®) for the assessment of cognitive functions in SMA patients belonging to the severe end of the spectrum. The set of tests contains the following subtests: Matrix subtest of Weschler non-verbal scale of ability for the study of fluid reasoning and perceptual reasoning. Recognition subtest of Weschler non-verbal scale of ability for the study of visuo-spatial memory. Peabody picture vocabulary test for the study of receptive vocabulary (French). The chimeric animal stroop test to study inhibition. Face recognition subtest of NEPSY-II to study face encoding, discrimination and recognition. Picture complement test to study the spatial reasoning. Matching pair test. Fourty children from 2 to 12 years old were enrolled: 10 SMA type 1, 10 SMA type 2, and 20 age and sex matched control patients. The methodology and first results will be presented. At the era of new treatments, in particular for SMA type 1, many questions are opened and could be partially answered by this approach: What is the natural history of cognition in SMA type 1 (and 2)? What is the impact of new treatment? How to organize the environment of SMA type 1 children in order to achieve optimal cognitive development (language, cognition, participation)? 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 patients and to evaluate the impact on cognition of future SMA treatments.