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Table 1 Outcome measures and tests at baseline and follow-up

From: Facioscapulohumeral dystrophy in children: design of a prospective, observational study on natural history, predictors and clinical impact (iFocus FSHD)

Outcome domain Tests Age
Primary outcome measure
 ICF: Activities and participation
  Motor function Motor Function Measure [37, 38] 2–18
Secondary outcome measures
 ICF: body functions
  Mental functions Education level (school level) 5–18
EEG [48]a 0–18
Denver II developmental screening test [49] 0–6
  Seeing functions Visual acuity (Snellen) 4–18
  Hearing functions Tone- and speech audiometry 2–18
  Pain Faces scale pain [50] 6–18
  Cardiac function ECG [51] 0–18
  Aerobic exercise tolerance 6-minute walk test MWT [52, 53] walk
  Fatigability NeuroQol fatigue domain [54] 2–18
  Respiratory function Forced vital capacity and forced expiratory volume Spirometry [55] 6–18
  Digestive, defecation, weight maintenance and urination functions Qualitative history 0–18
  Ingestion functions TOMASS-C test [56] 6–18
Neuromuscular disease swallowing status scale [57] 2–18
Dysphagia questionnaire [40, 58] 2–18
  Muscle functions Handgrip dynamometer 6–18
Manual muscle testing [59] 0–18
Serum creatine kinase (CK) 0–18
Age-adjusted clinical severity scale [60, 61] 5–18
FSHD evaluation score [62]  
 ICF: Body structure
  Eye structure Slit lamp examination 4–18
Dilated fundoscopy 4–18
Optical coherence angiography tomography 6–18
  Movement related structures Muscle ultrasonography [39] 0–18
Spine x-raya 4–18
 ICF: Activities and participation
  Communication/social interactions Social Economic Questionnaire SEV [63]a 4–18
  Self-care/life areas Kidscreen [64] 8–18
 ICF: Environmental factors
  Products and natural environment Qualitative anamnesis and history 0–18
  1. a Only if clinically indicated