439 Language and social communication abilities in children with Spinal Muscular Atrophy (SMA) type 1 treated with approved disease-modifying therapies

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Objectives SMA1 is an autosomal recessive neuromuscular disorder presenting shortly after birth and before 6 months of age with inability to achieve independent sitting and limited life expectancy due to respiratory failure (high mortality rate by 2 years). The natural history of SMA1 has radically changed thanks to advances in the multidisciplinary care and the approval of disease-modifying therapies. While the newly emerging phenotypes are being characterised in terms of survival, respiratory, motor function, very little is known about other areas of functioning, including language and social communication. We conducted a pilot study to investigate parents-reported language and social communication skills in SMA1 patients treated with disease-modifying therapies at the Great Ormond Street Hospital, London. Methods We identified SMA1 children treated with any of the three approved disease-modifying therapies, nusinersen, risdiplam, onasemnogene abeparvovec-xioi, and classified them according to disease severity expressed by age at symptoms onset: within the first 2 weeks of life (type 1a), by 3 months (1b), and between 3 and 6 months (1c). We selected two questionnaires for parents/caregivers: the MacArthur-Bates Communicative Development Inventory – Words and Gestures (MCDI), for children aged 8months+, to investigate the developing abilities in early language, and the Social Communication Questionnaire (SCQ), for children aged 4years+, to identify potential social communication difficulties. Results Fourteen parents agreed to complete the MCDI (7/14 1b and 7/14 1c, all treated with nusinersen, mean age at MCDI administration: 37 months, range 15–81). Results demonstrated the acquisition of some verbal skills in 11/14 (4/7 1b, 7/7 1c), although with scores below normal ranges. Ten/14 parents also agreed to complete the SCQ, along with other 9 parents (11/19 1b and 8/19 1c, 16/19 treated with nusinersen, 1/19 switched from nusinersen to risdiplam, 1/19 received onasemnogene abeparvovec-xioi after nusinersen, 1/19 received onasemnogene abeparvovec-xioi only, mean age at SCQ administration: 5.98 years, range 4.0–9.28). Three/19 (1/11 1b and 2/8 1c) showed a total SCQ score ≥12, suggesting the need of further investigations for autism spectrum disorder. Other areas of concerns included restrictive and repetitive patterns of behaviour (7/19), and sensory sensitivity (5/19). Conclusion Our study shows that treated SMA1 children can acquire some verbal skills, although this is usually not age-appropriate. A noteworthy percentage of long-surviving SMA1 children may present with a neurodevelopmental disorder in addition to the neuromuscular disease. Further, multicentric studies are warranted to better characterize the spectrum of language and social communication abilities in treated SMA1 children.

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