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Table 1 Examinations performed in LAST STRONG study

From: Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Outcome domain

Examination

Age

Visit

Medical history

 Past

Perinatal period, motor milestones

All

1

 Current

Functional abilities, comorbidities, devices, treatments

All

All

Neurological examination and functional measurements

 Muscle function

Muscle strength assessment (Medical Research Council, MRC)

≥ 5 years

All

 

Hand-Held dynamometry (HHD)

≥ 5 years

All

 

The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND)

<  2 years

All

 

Hammersmith Infant Neurological Examinations (HINE)

<  2 years

All

 

Motor Function Measurement (MFM)-20/320

≥ 2 years

All

 

Hammersmith Functional Motor Scale (HFMS); non-ambulant participants only

≥ 2 years

All

 

Pediatric Balance Scale (PBS); ambulant participants only

2–15 years

All

 

Mini Balance Evaluation Systems Test (miniBEST); ambulant participants only

≥ 16 years

All

 

Graded and timed function tests; ambulant participants only

 

All

1. 30 s sit to stand, climb 4 stairs, rise from the floor, timed up and go (TUG)

≥ 2 years

2. 6-Minute Walk test (6MWT), 10-Meter Walk test (10MWT)

≥ 5 years

 

Functional Ambulation Classification (FAC)

≥ 5 years

All

 

Vignos and Brooke scale

≥ 2 years

All

 Contractures

Goniometry

≥ 2 years

All

 Other

Coordination, gait, reflexes, cranial nerves and facial muscles, dysmorphic features

≥ 2 years

All

Questionnaires

 Quality of Life

Pediatric Quality of Life Inventory (PedsQL) (Generic Core Scale, Neuromuscular Module; Child Self-report and/or parent proxy)

2–17 years

All

 

Research and Development-36 (RAND36)

≥ 18 years

All

 

Individualized Neuromuscular Quality of Life (INQoL)

≥ 18 years

All

 Pain

McGill pain questionnaire

≥ 12 years

All

 

Wong-Baker Faces Pain rating scale

≥ 2 years

All

 Fatigue

Checklist Individual Strength (CIS)

≥ 18 years

All

 

Pediatric Quality of Life Inventory (PedsQL) (Multidimensional Fatigue Scale; Child Self-report and/or parent proxy)

2–17 years

All

 Activities and participation

ACTIVLIM

≥ 6 years

All

 

Impact on Participation and Autonomy (IPA)

≥ 18 years

All

 

Egen Klassifikation version 2 (EK2)

≥ 12 years

All

 

Borg Rating Scale of Perceived Exertion; prior to and after 6MWT

≥ 5 years

All

Imaging

 Muscles

Muscle ultrasound

All

All

 

Full body muscle magnetic resonance imaging (MRI)

≥ 10 years

1, 3

 Spine

X-ray of total spine (anteroposterior, lateral) and of lumbar spine (flexion and extension))

≥ 2 years

1, 3

 Bone density

Dual-energy X-ray absorptiometry (DEXA-)scan

≥ 2 years

1, 3

Cardiopulmonary assessment

 Heart

Electrocardiogram

≥ 2 years

1, 3

 

Conventional echocardiography

≥ 2 years

1, 3

 Lungs

Spirometry (forced expiratory volume in the first second (FEV1), forced vital capacity (FVC), vital capacity (VC), peak cough flow (PCF))

≥ 5 years

All

 

Maximum Expiratory Pressure (MEP), Maximum Inspiratory Pressure (MIP) and Sniff Nasal Inspiratory Pressure (SNIP)

≥ 5 years

All

 

Ultrasound of the diaphragm

All

All

Accelerometry

 GENEActiv

Accelerometry for eight consecutive days

≥ 2 years

All