# Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review
## 4 Discussion
This would also be useful for identifying the outcome measures for trial readiness, as well as implementing innovative care and rehabilitation techniques in clinical practice. This incitement has been partly received by scientific and patient communities. Some disease registries have recently been proposed, such as the Global Registry for COL6-related dystrophies (NCT04020159) or the Global FKRP Registry (NCT04001595), and some natural history studiesfor clinical trial readiness have been registered such as the study of dystoglycanopathies (NCT00313677) or the study of patients with SEPN1 or LAMA2 mutations (NCT04478981). Another feature that emerged is the heterogeneity of the assessment tools used in the studies. In 10 out of 16 papers, motor assessment instruments, such as functional scales and time tests, were used (see Table 8). In the other six papers, anamnestic data and information acquired during clinical assessments were analyzed. The absence of evaluation instruments specifically validated for these diseases should be underlined. The functional assessment scales reported have been validated for the assessment of patients with neuromuscular disease or other specific neuromuscular diseases or other motor disorders. The scales used were the Motor Function Measure (MFM32), Gross Motor Function Measure (GMFM), Hammersmith Motor Function (HFMS), Modified Hammersmith Motor Function (MHFMS), Pediatric Evaluation of Disability Inventory (PEDI), North Star Ambulatory Assessment (NSAA), timed function tests (TFTs), NM-Score classification, 6 min walk test (6 MWT), Jebsen Taylor Hand Function Test (Jebsen), Performance of Upper Limb (PUL), Brooke scale, Quality of Upper Extremity Skills Test (QUEST), and Upper Limb Function Measure of Muscular Dystrophy. The tools cited allow the different motor and functional aspects to be assessed. According to the scale, it is possible to obtain results relating to gross motor functions, fine motor functions, upper limb abilities, fatigability, and speed of execution. In addition, some articles included instruments for measuring joint range and strength. \begin{table}
\begin{tabular}{c c  
As can be seen in Table 8, the MFM32 scale was the most used instrument for the assessment of patients with CMD. The subdivision into domains (D1, standing and transfers; D2, axial and proximal motor function; and D3, distal motor function) allows for a comprehensive assessment of motor function [22]. It should be noted that patients with CMD were also included in the validation study of this scale [24]. The study by [PERSON] et al. on patients with COL6-RD and LAMA2-RD showed a high association between the MFM32 scale and HFMS. The MFM32 provides more information, so it may be more convenient for the assessment of patients with CMD. However, it should be pointed out that some difficulties related to muscle contractures interfered with some tasks, either due to the inability to reach the initial position or the inability to complete the items [23]. The NSAA scale, which has been validated for patients with Duchenne muscular dystrophy [25] and spinal muscular atrophy type 3 [26], includes the assessment of more complex skills, which is useful for patients with better motor functioning who show ceiling effects on the MFM32 scale. It could, therefore, be a complementary tool [23]. With respect to upper limb function, the QUEST showed associations with the total score from the MFM32 in patients with COL6-RD and LAMA2-RD. However, further investigations are ongoing to understand which of these tools is more appropriate [23]. There were no studies describing the use of functional assessment scales in CMD patients in the neonatal period. However, it would be interesting to identify the most appropriate tool among the Chop Intend scale, the HFMS [27], or the recently proposed module of the Hammersmith Neonatal Neurological Examination (HNEE) for neonates with SMA [28]. Finally, the presence of contractures should be taken into consideration.