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Table 1 5-domain NPCCSS

From: Validation of the 5-domain Niemann-Pick type C Clinical Severity Scale

Domain

Scoring

Minimum–Maximum Score

Ambulation

0 = Normal

1 = Clumsy

2 = Ataxic unassisted gait or not walking by 18 months

4 = Assisted ambulation or not walking by 24 months

5 = Wheelchair dependent

0–5

Fine Motor Skills

0 = Normal

1 = Slight dysmetria/dystonia (independent manipulation)

2 = Mild dysmetria/Dystonia (requires little to no assistance, able to feed self without difficulty)

4 = Moderate dysmetria/dystonia (limited fine motor skills, difficulty feeding self)

5 = Severe dysmetria/Dystonia (gross motor limitation, requires assistance for selfcare activities)

0–5

Swallow

0 = Normal, no dysphagia

1 = Cough while eating

Intermittent dysphagia*

 + 1 = w/Liquids

 + 1 = w/Solids

Dysphagia*

 + 2 = w/Liquids

 + 2 = w/Solids

4 = Nasogastric tube or gastric tube for supplemental feeding

5 = Nasogastric tube or gastric tube feeding only

0–5

Cognition

0 = Normal

1 = Mild learning delay, grade appropriate for age

3 = Moderate learning delay, individualized curriculum or modified work setting

4 = Severe delay/plateau, no longer in school or no longer able to work, some loss of cognitive function^

5 = Minimal cognitive function

0–5

Speech

0 = Normal

1 = Mild dysarthria (easily Understood

2 = Severe dysarthria (difficult to understand)

3 = Non-verbal/functional communication skills for needs

5 = Minimal communication

0–5

5-domain NPCCSS score

Sum of all scores from the 5 domains above

0–25

(higher score = more severe clinical impairment)

  1. *Score is additive (to the “cough while eating”-score of 1) within the two subsections of intermittent dysphagia and dysphagia (example: for intermittent dysphagia with solids and dysphagia with liquids a score of 4 applies (1 + 1 + 2))