116P Exploring neurobehavioral disorders in type 1 and presymptomatic patients with spinal muscular atrophy

The advent of disease modifying therapies in Spinal Muscular Atrophy (SMA) has changed the natural history of the disease, increasing life expectancy and quality of life but, at the same time, raising new clinical challenges. The aim of this study is to explore the neurobehavioral profile in treated individuals with SMA type I and subjects identified by newborn screening (NBS). Twenty-eight individuals aged 2-10 years underwent a comprehensive behavioral assessment using three screening questionnaires (Strengths and Difficulties Questionnaire (SDQ), Social Communication Questionnaire (SCQ), and Sensory Profile (SP)), which provide information regarding the risk of behavioral disorders and autism. A cognitive evaluation, and a clinical observation were performed by two independent observers. Twenty-two individuals with SMA type I and 6 patients identified with NBS were included. None had abnormal clinical scores in the SCQ questionnaire, 4 had borderline scores, but in two of the 4 the scores were normal when the motor items were removed. SDQ showed some abnormal results in 10/28 subjects. The clinical observation confirmed the result of the screening questionnaires in 17/28 subjects and highlighted behavioral issues in 4/28 not detected by the questionnaires. Our findings confirm that neurobehavioral disorders may occur in subjects with SMA and highlight the challenges in choosing the appropriate assessment tools. Questionnaires such as SCQ do not appear to be adequate as they often failed to identify signs detected by other tools. SDQ appeared to be the most appropriate tool in our cohort. In our experience, a structured clinical observation was also helpful to identify behavioral problems, suggesting that, in the absence of disease specific tools, the use of different instruments may help to better identify the type and the frequency of behavioral problems.