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 | |
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] |