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Table 6 Recommended assessments

From: Consensus clinical management guidelines for Niemann-Pick disease type C

Recommended assessment Rationale Frequency References
Baseline history Establish current level of disease severity and retrospectively estimate rate of progression At diagnosis [9, 62, 78]
Interval history Establish rate of disease progression; monitor for compliance with and side effects from therapy; monitor for conditions which would prompt discontinuation of therapy 6 months [62, 78]
Physical examination Document growth parameters, assess for neurological features and organomegaly At diagnosis then every 6–12 months [61, 62]
NPC clinical severity score Document key features of disease at diagnosis, progression and response to therapy At diagnosis and then every 6 months [22, 24, 32, 61]
Neuropsychiatric evaluation Document and treat psychiatric manifestations and response to therapy At diagnosis then every 6–12 months [62, 79]
Developmental or cognitive assessment Document baseline degree of cognitive impairment and monitor response to therapy At diagnosis; every 6 months in children; every 12 months in adults [9, 47, 61, 80]
Ophthalmology evaluation Document saccadic eye movement velocity and presence of gaze palsy at baseline and document response to miglustat therapy in treated patients At diagnosis; at 6 and 12 months; after starting treatment; frequency after 12 months can be determined by clinical response [61]
Audiometry Document presence of hearing loss At diagnosis then every 12 months [81]
Swallowing assessment Clinical swallowing assessment in all patients; videofluoroscopic swallowing (VFS) assessment may be useful in some patients; Document presence of dysphagia and aspiration and response to therapy At diagnosis and then every 6 months in children; in adults, frequency could be reduced to every 12 months if asymptomatic and disease is stable [61, 82]
Neuroimaging Magnetic resonance imaging or more detailed forms of neuroimaging including MR spectroscopy and diffusion tensor imaging At baseline if available; Decisions about follow up neuroimaging will depend on local availability and need for general anaesthesia [47, 83,84,85]