582P Brain abnormalities in spinal muscular atrophy type 1 with neurodevelopmental disorders.

Recent literature has reported neurodevelopmental changes in spinal muscular atrophy (SMA) type 1, especially autism spectrum disorder (ASD). Furthermore, previous reports before the advent of disease-modifying therapies suggested brain involvement in 5q-SMA. In this work, we present five SMA type 1 and pre-symptomatic patients with two copies of SMN2 who presented neurodevelopmental disorders and were submitted to brain MRI with DTI (diffusion tensor imaging). These patients presented with abnormalities in the white matter of the frontal lobes on brain MRI, which correlates with less representation association fibers (superior longitudinal fasciculus) on DTI. Brain involvement in SMA type 1 may occur even in patients treated with new disease-modifying therapies, and its correlation with neurodevelopmental disorders remains an open question. [ABSTRACT FROM AUTHOR]