Instruments to assess upper‐limb function in children and adolescents with neuromuscular diseases: a systematic review

Abstract

Aim To synthesize clinical and scientific evidence regarding the instruments available to assess upper‐limb function in paediatric patients with neuromuscular disease (NMD). Method This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta‐Analyses and COnsensus‐based Standards for the selection of health Measurement INstruments (COSMIN) guidelines (Prospective Registry of Systematic Reviews no. CRD42020140343). Two independent reviewers searched the PubMed/MEDLINE, LILACS, Embase, and Scopus databases. Inclusion criteria were cross‐sectional or longitudinal studies or randomized controlled trials that used scales or questionnaires to assess upper‐limb function in paediatric patients with NMDs. The COSMIN Risk of Bias checklist and criteria for good measurement properties were applied to assess the methodological quality of the instruments. Results In total, 34 articles and 12 instruments were included. The Brooke Upper Extremity (n=16) and Performance of Upper Limb (PUL) (n=12) instruments were the most used tools. The PUL and Duchenne muscular dystrophy (DMD) Upper Limb patient‐reported outcome measures (PROMs) tested more measurement properties and provided higher methodological quality scores for patients with DMD. Likewise, the Revised Upper Limb Module (RULM) was the most suitable instrument for patients with spinal muscular atrophy. No instrument has been devised to assess upper‐limb function in patients with Charcot–Marie–Tooth disease and no other disease‐specific instruments were found. Interpretation The PUL, DMD Upper Limb PROM, and RULM are the most suitable instruments to assess upper‐limb function in the two most prevalent paediatric NMDs. The identified gaps and methodological flaws of the available instruments indicate a need to develop high‐quality instruments to assess other types of paediatric NMDs. The most suitable observer–rater instrument to assess upper‐limb function in Duchenne muscular dystrophy (DMD) is the Performance of Upper Limb. The most suitable observer–rater instrument to assess upper‐limb function in spinal muscular atrophy is the Revised Upper Limb Module. The DMD Upper Limb patient‐reported outcome measure is recommended to assess the upper‐limb performance of patients with DMD. Literature gaps and methodological flaws indicate the need to develop high‐quality instruments to assess other types of paediatric neuromuscular disease.

Validity of the Functional Classification of the Upper Extremities for Duchenne Muscular Dystrophy

“…The FCUE can be performed in 1–2 min and is more accessible than the PUL, which takes approximately 15 min. 15 ) The evaluation time of the FCUE is slightly longer than that of the Brooke Upper Extremity Scale. Given that time is limited in daily clinical practice, ease of evaluation is a critical factor.…”

“… 6 ) The Brooke Upper Extremity Scale 13 ) and Performance of Upper Limb (PUL) 12 , 14 ) are the most used upper-limb functional assessment methods for DMD. 15 ) The Brooke Upper Extremity Scale is a 6-point scale that can be evaluated in a short time because of the limited number of items. 15 ) However, the simplicity of the Brooke Upper Extremity Scale means that it cannot assess the progression of muscle weakness of distal muscular dystrophy 16 ) and that it is insensitive to minor functional changes.…”

“… 12 ) A previous review reported that 35% of previous studies assessed functional outcomes with the PUL. 15 ) The PUL takes approximately 15 min to perform even though there are many items to be evaluated. 15 ) However, we believe that the 15-min evaluation time for the PUL is cumbersome in daily clinical practice and fatigues participants.…”

“… 15 ) The PUL takes approximately 15 min to perform even though there are many items to be evaluated. 15 ) However, we believe that the 15-min evaluation time for the PUL is cumbersome in daily clinical practice and fatigues participants. Therefore, there is a need for an assessment method that is simpler than the PUL and more sensitive than the Brooke Upper Extremity Scale.…”

Do handgrip strength and dexterity predict respiratory function in neuromuscular disease?

“…Mercuri et al 23 emphasized the validity of the Brooke scale for upper extremity assessment. Recently, Davoli et al 24 also reported that The Brooke Upper Extremity Instrument was one of the most used tools. Furthermore, the Brooke and Vignos scales showed a positive relationship between functional ability and FVC and total lung capacity.…”