Introduction
Background
Methods
Delphi-based method
Pre-meeting
Meeting
Workshop
Results of the Delphi-based process
Mitochondrial myopathy
Consensus | ||
---|---|---|
Percentage scores ≥ 4 | Mean score | |
Myopathy | ||
6-min walk test | 100% | 4.4 |
30 s sit to stand test | 100% | 4.4 |
Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) | 100% | 4.7 |
Growth and weight gain | 100% | 4.6 |
Caregiver burden scale | 100% | 4.7 |
Grip strength | 92% | 4.2 |
New muscle endurance test (developed by RCMM) | 92% | 4.0 |
International Paediatric Mitochondrial Disease Scale (IPMDS) | 91% | 4.3 |
PedsQL (multidimensional fatigue) | 91% | 4.2 |
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) | 82% | 4.0 |
Timed tests (stand up from floor) | 77% | 3.8 |
Hammersmith Functional Motor Scale
| 64% | 3.6 |
Accelerometer
| 62% | 3.5 |
Alberta Infant Motor Scale (AIMS)
| 60% | 3.6 |
Gait measurement (GAITRite)
| 55% | 3.4 |
PedsQL (general)
| 54% | 3.5 |
Attain stand test (30 s)
| 46% | 2.9 |
Timed tests (10-m walk)
| 46% | 3.3 |
North Star Ambulatory Assessment
| 44% | 3.2 |
Test of Masticating and Swallowing Solids (TOMASS)
| 40% | 3.2 |
Checklist individual strength (CIS)
| 38% | 3.1 |
PedsQL (neuromuscular)
| 36% | 3.2 |
Lateral step-up test (30 s)
| 31% | 2.6 |
Childhood Myositis Assessment Scale (CMAS)
| 31% | 2.8 |
Gross Motor Function Measure (GMFM)
| 27% | 2.7 |
Pediatric Evaluation of Disability Inventory (PEDI)
| 23% | 2.6 |
Eyelid ptosis and ophthalmoparesis tests
| 18% | 2.3 |
9-hole peg test
| 15% | 1.8 |
Quantitative muscle power using hand-held dynamometer
| 15% | 2.3 |
Timed tests (5 stairs)
| 15% | 2.2 |
Quantitative myasthenia gravis test
| 8% | 2.0 |
6-min mastication test
| 0% | 1.8 |
Encephalo(myo)pathy | ||
Gross Motor Function Measure (GMFM) | 100% | 4.7 |
Pediatric Evaluation of Disability Inventory (PEDI) | 100% | 4.4 |
Spasticity: Tardieu scale | 100% | 4.2 |
Caregiver burden scale | 100% | 4.5 |
Barry–Albright Dystonia Scale | 92% | 4.1 |
Scale for the assessment and rating of ataxia (SARA) | 85% | 4.1 |
Growth and weight gain | 85% | 4.2 |
Alberta Infant Motor Scale (AIMS) | 85% | 3.9 |
Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) | 85% | 4.0 |
6-min walk test | 85% | 3.9 |
9-hole peg test | 85% | 3.8 |
Timed tests (10-m walk) | 85% | 3.8 |
Pediatric Outcomes Data Collection Instrument (PODCI) | 77% | 3.7 |
30 s sit to stand test | 77% | 3.8 |
International Pediatric Mitochondrial Disease Scale (IPMDS) | 73% | 4.1 |
CP classifications (CFCF, GMFCS, MACS)
| 69% | 3.8 |
Global assessment of three most important symptoms
| 67% | 3.8 |
Accelerometer
| 54% | 3.5 |
Timed tests (stand up from floor)
| 46% | 3.1 |
Perceive Recall Plan Perform (PRPP)
| 38% | 2.8 |
Peabody vocabulary test
| 38% | 3.2 |
PedsQL (general)
| 33% | 3.1 |
Test of Masticating and Swallowing Solids (TOMASS)
| 31% | 3.0 |
Gait measurement (GAITRite)
| 31% | 3.0 |
Timed tests (up and go)
| 31% | 3.0 |
Hypertonia Assessment Scale
| 23% | 2.8 |
Child Health Assessment Questionnaire (CHAQ)
| 23% | 2.8 |
KIDSCREEN
| 23% | 2.7 |
Frontal assessment battery
| 23% | 2.9 |
PedsQL (CP)
| 15% | 2.7 |
Luria
| 15% | 2.8 |
Spasticity: Ashworth scale
| 8% | 2.6 |
Timed tests (5 stairs)
| 8% | 2.5 |
Eyberg Child Behavior Inventory
| 8% | 1.9 |
Gross Motor Function Measure (GMFM)
| 0% | 2.2 |
Test | ≥ 4 (%) | Mean | Priority adult-like | Priority infantile |
---|---|---|---|---|
6-min walking test | 100% | 4.4 | 46% | |
30 s sit to stand test | 100% | 4.4 | 31% | |
Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) | 100% | 4.7 | 92% | |
Growth and weight gain | 100% | 4.6 | 92% | 92% |
Caregiver burden scale | 100% | 4.7 | 92% | 100% |
Grip strength | 92% | 4.2 | 46% | |
New muscle endurance test (developed by RCMM) | 92% | 4 | 31% | |
International Paediatric Mitochondrial Disease Scale (IPMDS) | 91% | 4.3 | 54% | 54% |
PedsQL (multidimensional fatigue) | 91% | 4.2 | 46% | |
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) | 82% | 4 | 23% | 31% |
Timed tests (stand up from floor)
| 77% | 3.8 | 11% |
Mitochondrial encephalo(myo)pathy
Test | ≥ 4 (%) | Mean | Priority |
---|---|---|---|
Gross Motor Function Measure (GMFM) | 100% | 4.7 | 100% |
Pediatric Evaluation of Disabilities Inventory (PEDI-CAT) | 100% | 4.4 | 69% |
Tardieu test for spasticity | 100% | 4.2 | 77% |
Caregiver burden scale | 100% | 4.5 | 100% |
Barry–Albright Dystonia Scale | 92% | 4.1 | 54% |
6-min walk test
| 85% | 3.9 | 54% |
9-hole peg test
| 85% | 3.8 | 23% |
10-m walk or run test
| 85% | 3.8 | 38% |
Scale for the Assessment and Rating of Ataxia (SARA) | 85% | 4.1 | 54% |
Growth and weight gain | 85% | 4.2 | 54% |
Alberta Infant Motor Skills (AIMS; for young children)
| 85% | 3.9 | 62% |
Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND; for young children) | 85% | 4.0 | 62% |
Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) | 85% | 4.0 | 77% |
30 s sit to stand test
| 77% | 3.8 | 38% |
Pediatric Outcomes Data Collection Instrument (PODCI)
| 77% | 3.7 | 54% |
International Pediatric Mitochondrial Disease Scale (IPMDS) | 78% | 4.0 | 62% |