Table 5.

Multidisciplinary assessments of patients with NPC

Discipline	Features of NPC for which this discipline may be of assistance	Reference
Primary care physician	Assist with general medical care; coordinate specialists; provide support for family	Expert opinion
Metabolic diseases specialist	Diagnosis of NPC and exclusion of other disorders in the differential diagnosis; ongoing patient assessment for disease progression and response to therapy	[47]
Neurologist	Cataplexy, movement disorders, dystonia, and seizures	[60]
Psychiatrist	Psychosis, behavioural disturbances, depression	[26]
Neuro-ophthalmologist	Diagnosis (vertical gaze palsy) and assess response to therapy (changes in saccadic eye movement velocity)	[61]
Anaesthesiologist	Assess for anaesthetic risk as needed	[76, 77]
Neuropsychologist	Assess for cognitive involvement at baseline and in response to therapy	[63]
Speech and language therapist	Assess for dysphagia and aspiration risk; speech therapy for children	Expert opinion
Occupational and physical therapists/Rehabilitation physician	Assess development and develop aids and home adjustments as needed for patients with communication and physical challenges	[64]
Orthopaedic surgeon	Assess the need for surgical correction of severe scoliosis, osteo-articular retractions, spasticity treatments and hip problems.	Expert opinion
Nutritionist/Gastroenterologists	Assess nutritional status in patients who may be losing weight due to dysphagia or side effects of therapy; Gastrostomy tube insertion when swallowing is unsafe.	[65]
Social worker	Support of patients and families living with disabilities who require enhanced resources in the community	Expert opinion
Genetic counsellor	Provide counselling for families as to recurrence risk and options for prenatal diagnosis if desired	[47]