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