To identify patient-reported outcome (PRO) measures/instruments for assessing Health-related quality of life (HRQoL) and functional ability in paediatric Spinal Muscular Atrophy (SMA) patients.

A search was conducted in Medline^®, PubMed and Clinical trials registries to identify PROs employed in trials involving children (<18 years of age) with SMA and/or Duchenne Muscular Dystrophy (DMD) with focus on PROs used in <2 years of age. Studies published in English between 1996 and May 2017 were included.

3241 studies were retrieved of which eight were included for evidence collation (SMA: 3; DMD: 4; both SMA/DMD: 1). In literature, five PROs assessed HRQoL of SMA patients - The Pediatric Quality of Life Inventory™ 3.0 Neuromuscular Module, The PedsQL™ 4.0 Generic Core Scales, Autoquestionnnaire Qualite´ de Vie Enfant Image´, RAND 36 item Health Survey and Pediatric Quality of Life Inventory. Further, five instruments for assessing functional ability of SMA patients were identified - Pediatric Evaluation of Disability Inventory–Computer Adaptive Test [PEDI-CAT], Egen Klassifikation scale, Web based questionnaire, The Personal Adjustment and Role Skills Scale and Revised Rutter Scale. Of the identified PROs, RAND 36 item Health Survey, PEDI-CAT and Web based questionnaire were recommended for use in SMA patients aged <2 years. None of the identified PROs were applied or validated in SMA patients aged< 2 years.