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Table 5 Multidisciplinary assessments of patients with NPC

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

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]
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