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Table 6 Most bothersome, meaningful improvement, and important to treat concepts

From: Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

Concept

na

Most Bothersome

 Muscle weakness

5

 Lack of independence

3

 Speech

2

 Walking

2

 Anxiety

1

 Balance

1

 Coughing

1

 Difficulty communicating

1

 Disease progression

1

 Falling

1

 Gastrointestinal issues

1

 Getting up

1

 Inability to climb stairs

1

 Pain

1

 Self esteem

1

 Social life

1

Meaningful Improvement

 Reduce muscle weakness

4

 Improve ability to communicate

2

 Improved clarity of speech

2

 No wheelchair

2

 Keeping pace with others

1

 Reduce difficulty speaking

1

 No falls

1

 Ability to climb stairs

1

 Walk further

1

 Walk without assistance

1

Most Important Change: 1st

 Walking

4

 Speech

3

 Getting up

3

 Falling

2

 Balance

1

 Mobility

1

Most Important Change: 2nd

 Muscle weakness

2

 Speech

2

 Coughing

1

 Gastrointestinal issues

1

 Internal body temperature

1

 Walking

1

Most Important Change: 3rd

 Falling

1

 Controlling breathing while speaking

1

 Insomnia

1

Most Important to Treat

 Prevent disease progression

4

 Walking

4

 Getting up

3

 Measurable improvement

3

 Speech

3

 Muscle weakness

2

 50% fewer bathroom trips

1

 50% less coughing

1

 Balance

1

 Fatigue

1

 Without side effects

1

  1. aNot all patients were asked or reported their most bothersome, important to treat, or meaningful improvement. Thus, only the number of patients is reported