Table 6.

Recommended assessments

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, 83–85]