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Table 1 Six clinical NPC severity scales under investigation

From: International consensus on clinical severity scale use in evaluating Niemann–Pick disease Type C in paediatric and adult patients: results from a Delphi Study

Scale name List of domains measured
17-domain NPC Clinical Severity Score (NPCCSS) [18] The NPCCSS measures 17-domains:
Nine major domains: ambulation, cognition, eye movement, fine motor, hearing, memory, seizures, speech, swallowing
Eight minor domains: auditory brainstem response, behaviour, gelastic cataplexy, hyperreflexia, incontinence, narcolepsy, psychiatric, respiratory problems
5-domain NPCCSS [16] Based on the 17-domain NPCCSS, the 5-domain NPCCSS measures ambulation, cognition, fine motor, speech and swallowing (five domains selected by NPC individuals, their caregivers and NPC experts as the most clinically relevant)
Disability Scale (NPC-specific) [4] It measures four domains: ambulation, manipulation, language and swallowing, with scores 1–4 or 5
Disease-specific Disability Scale [19] Adaption of the scale developed by Iturriaga et al. (2006) [4]. It measures four domains: ambulation, manipulation, language and swallowing, with weighted scores for each parameter on a scale from 0–1
NPC-cdb Scale [20] Unlike previous scales, the NPC-cdb scale represents the sum of all past and current symptoms present in a patient at any given time, with each symptom contributing a severity-weighted summand
Functional Disability Scale [3] Modified from Pineda et al. [19]. It measures seven domains: ambulation, manipulation, language, swallowing, eye movements, seizure and neurocognitive development (for patients under 12 years of age)