OBJECTIVES: Spinal Muscular Atrophy (SMA) is a rare and severe neuromuscular autosomal recessive disorder affecting approximately 1 in 10,000 new-borns. The objective of this review was to identify patient-reported outcome (PRO) instruments that could be used to assess the Health-related quality of life (HRQoL) and functional ability in paediatric SMA patients.

METHODS: A search was conducted on MEDLINE^®, PubMed and Clinical trials registries to identify PROs that have been applied in children (<18 years of age) with SMA and/or Duchenne Muscular Dystrophy (DMD). PROs for <2 years of age was a sub-group of interest. Studies published in English between 1996 and May 2017 were included.

RESULTS: Of the 3241 citations retrieved, eight were included in the review (SMA, 3: DMD, 4: both SMA/DMD, 1). Five PROs were identified for assessing HRQoL; The Pediatric Quality of Life Inventory™ 3.0 Neuromuscular Module, The PedsQL™ 4.0 Generic Core Scales, Autoquestionnnaire Qualite´ de Vie Enfant Image´ [AUQEI], RAND 36 item Health Survey and Pediatric Quality of Life Inventory. Of these, HRQoL instruments, only RAND 36 was recommended for patients <2 years of age. Similarly, five PROs; Pediatric Evaluation of Disability Inventory–Computer Adaptive Test [PEDI-CAT], Egen Klassifikation [EK] scale, Web based questionnaire, The Personal Adjustment and Role Skills Scale [PARS-III] and Revised Rutter Scale were identified for assessing functional ability. Of these, two PROs were recommended for use in patients aged <2 years (PEDI-CAT and Web based questionnaire). However, none of the identified PROs were applied or validated in SMA patients aged <2 years.

CONCLUSIONS: Few PROs have been applied to assess HRQoL and functional ability in SMA patients. There is also limited evidence pertaining to PROs that can be used in patients <2 years of age. This review indicates the need for developing and validating a PRO for SMA patients <2 years of age.