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] |