Table 6 Recommended assessments

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]