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Table 4 MPS VI disease concepts of interest, functional impacts, and clinical outcome assessment

From: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients

Disease concept of interest Functional impact Clinical outcome assessments
Impaired mobility Difficulty managing mobility required for home and school environments
Decreased ability to ascend/descend stairs, especially on school bus
Inability to walk long distances; requires adapted equipment, such as strollers or wheelchairs
Unable to participate in gym class at school
Unable to keep up with peers in playground and in sports and recreation activities
Performance measures:
 2MWT/6MWT
 Timed Stair Climb
 BOT™-2 Balance, Strength and Running Speed and Agility Subtests
Patient Reported Outcomes:
 PROMIS® Mobility
 PODCI Transfer and Basic Mobility, Sports and Physical Function
 CHAQ
 PedsQL™
Upper extremity and fine motor deficits Fine motor deficits impact dressing often resulting in need for adult assistance
Handwriting difficulties
Inability to reach overhead causes difficulty in ADLs, such as hair brushing, bathing and dressing
Difficulty with tasks requiring both strength and dexterity such as opening a jar and managing clothing fasteners
Performance measures:
 NIH Toolbox Pegboard Dexterity Test
 Grip Strength
 BOT™-2 Fine Motor and Manual Dexterity Subtests
Clinician Reported Outcome:
 Passive Range of Motion
Patient Reported Outcomes:
 PROMIS® UE
 PODCI Upper Extremity
 CHAQ
 PedsQL™
Pain Results in decreased HRQoL
Limits ability to complete schoolwork
Impacts sleep
Limits ability to participate in sports and recreation activities
Patient Reported Outcomes:
 PROMIS® Pain Intensity, Pain Behavior, Pain Interference
 PODCI Pain and Comfort, Happiness
 CHAQ
 PedsQL™
 Faces Pain Scale-Revised
 VAS
 NRS
Fatigue Shortness of breath with ambulation
Need for frequent rests and naps
Unable to participate in typical age-appropriate activities
Performance measures:
 2MWT/6MWT
Patient Reported Outcomes:
 PROMIS® Fatigue
 PODCI Happiness, Pain and Comfort
 PedsQL™
  1. 2MWT 2-min walk test, 6MWT 6-min walk test, BOT-2 Bruininks–Oseretsky Test of Motor Proficiency, 2nd edition, CHAQ childhood health assessment questionnaire, NIH National Institutes of Health, NRS numeric rating scale, PedsQL Pediatric Quality of Life Inventory, PODCI Pediatrics Outcomes Data Collection Instrument, PROMIS Patient-Reported Outcomes Measurement Information System, UE upper extremity, VAS visual analog scale