Polysomography in paediatric spinal muscular atrophy

Abstract

Introduction: Sleep disordered breathing (SDB) causing sleep disturbance and daytime symptoms occurs in spinal muscular atrophy (SMA). Although polysomnography (PSG) findings are well described in other neuromuscular disorders, PSG findings in the SMA group are less well described. Aim: To characterise SDB in childhood SMA. Methods: A cross-sectional cohort study of all children in Queensland with SMA was undertaken. Children had full diagnostic PSG, scored and reported by a single paediatric sleep physician in accordance with American Academy of Sleep Medicine Guidelines (2012). Results: 27 children (15 males) were included (0.75-18.7years). Significant SDB (AHI >5) was seen in 14 (52%) and normal breathing (AHI <1) seen in only 2 children with type 2. SDB was seen in each type (See Table 1) with a predilection to REM sleep. In SMA type 1, all patients exhibited SDB, 2 (50%) with central sleep apnoea (CSA) and 2 (50%) with mixed disease. In SMA type 2, 5 (36%) had CSA, 1 (7%) mixed disease, 6 (43%) had early SDB and 2 (14%%) had normal sleep breathing. Lastly, for SMA type 3, 4 (44%) children had CSA and 5 had early SDB. Conclusion: SDB is common in childhood SMA and was present in children with all types 1-3. Central sleep apnoea was the most common SDB present, although mixed SDB was also present in type 1 and 2 SMA.L6269408022019-04-02 <br />