VP.18 Social communication skills in spinal muscular atrophy (SMA) type 1 children treated with approved disease-modifying therapies

Abstract

Over the past few years, the natural history of SMA type 1 has radically changed thanks to the advances in the multidisciplinary care and the approval of disease-modifying therapies. While the newly emerging phenotypes are being characterised in terms of overall survival, motor, and respiratory function, very little is known about other areas of functioning, including cognition, speech, and communication. There is some limited evidence of potential brain involvement, especially in patients at the severe end of the spectrum, and impaired cognitive performances are reported in recent small SMA1 cohorts. In addition, residual motor, respiratory and bulbar weakness may severely affect the ability to play, communication and social interaction. These aspects are becoming increasingly important in SMA1 children who are surviving longer and may present with a neurodevelopmental disorder in addition to the neuromuscular disease. We aim to investigate social communication skills in SMA1 patients treated with disease-modifying therapies at the Great Ormond Street Hospital in London. We have recruited 21 patients, median age 5.53 years, range 4.15–8.85. We are administering the social communication questionnaire (SCQ), a 40-questions interview for parents/carers of children aged 4years+ to identify potential social communication difficulties. Variables including SMN2 copies number, disease severity (type 1a, 1b, 1c) and duration, age at initiation and duration of treatment, motor, respiratory and bulbar function are evaluated alongside. By the submission of this abstract, 9/21 (43%), 5 SMA 1b and 4 1c, treated with nusinersen, have completed the SCQ. This ongoing study will add insight on SMA 1-specific social communication abilities thus exploring an under-investigated aspect of SMA1. Data from this study will provide information on the need of further in-depth research on this domain and guide targeted assessments and therapeutic inputs for SMA1 children and their families.