Table 6 Availability of assessments and difficulties in following the guidelines for MPS IVA completely compared to self-evaluation of important outcomes for monitoring response to ERT in MPS IVA patients
Availability of assessment | Self-evaluation of importance | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
Very easy | Easy | Somehow difficult | Difficult | Very difficult | Very important | Important | Somehow important | Not important | Total | |
General Physical examination | 50% | 31% | 19% | 0% | 0% | 88% | 12% | 0% | 0% | 16 (100%) |
Neurological examination | 37% | 44% | 19% | 0% | 0% | 44% | 37% | 19% | 0% | 16 (100%) |
Joint range of motion (JROM) | 25% | 50% | 19% | 6% | 0% | 44% | 50% | 0% | 6% | 16 (100%) |
Growth | 62% | 25% | 13% | 0% | 0% | 44% | 50% | 6% | 0% | 16 (100%) |
Endurance (6MWT) | 50% | 25% | 25% | 0% | 0% | 56% | 31% | 13% | 0% | 16 (100%) |
X-rays | 56% | 31% | 13% | 0% | 0% | 19% | 69% | 12% | 0% | 16 (100%) |
MRI | 25% | 44% | 19% | 12% | 0% | 44% | 31% | 19% | 6% | 16 (100%) |
CT scan | 31% | 44% | 19% | 6% | 0% | 25% | 38% | 31% | 6% | 16 (100%) |
Cardiology (echo, ecg) | 44% | 44% | 6% | 6% | 0% | 31% | 69% | 0% | 0% | 16 (100%) |
Respiratory function (MVV, FVC) | 31% | 38% | 31% | 0% | 0% | 56% | 44% | 0% | 0% | 16 (100%) |
Sleep study | 0% | 31% | 50% | 6% | 13% | 13% | 56% | 31% | 0% | 16 (100%) |
Oral health | 31% | 31% | 38% | 0% | 0% | 6% | 50% | 44% | 0% | 16 (100%) |
Eye examination | 37.5% | 37,5% | 25% | 0% | 0% | |||||
Ear examination | 37% | 44% | 19% | 0% | 0% | |||||
Disease burden (EQ-5D-5L, MPS HAQ, PRO) | 19% | 50% | 25% | 6% | 0% | 31% | 56% | 13% | 0% | 16 (100%) |
Anesthesia | 25% | 31% | 25% | 13% | 6% | 44% | 37% | 13% | 6% | 16 (100%) |
Surgical interventions | 13% | 31% | 37% | 13% | 6% | 44% | 37% | 13% | 6% | 16 (100%) |
Electrophysiology | 19% | 38% | 31% | 6% | 6% | 19% | 62% | 6% | 13% | 16 (100%) |
Lab testing | 32% | 56% | 6% | 6% | 0% |