Table 4 Recommended multidisciplinary assessment of patients with ASMD
Discipline | Features of ASMD for which this discipline may be of assistance | Recommended for all ASMD or as needed |
|---|---|---|
Primary care physician | Assist with general medical care; coordinate specialists; provide support for family | All |
Metabolic diseases specialist | Diagnosis of ASMD and exclusion of other disorders in the differential diagnosis; Ongoing patient assessment for disease progression and response to therapy. Coordinate the overall care working with primary care physician | All |
Neurologist | Assess the possible neurological manifestation of the disease and manage accordingly | All |
Hepatologist | Periodic assessments of liver derangements; Manage the impending/existing liver failure | As needed |
Haematologist | Assess the risk of bleeding disorder and long term complications | As needed |
Pulmonologist | Assess the baseline respiratory functions and periodic assessment for deterioration; manage the pulmonary disease and its complications | As needed |
Genetic counsellor | To inform affected persons and their families regarding nature and implications of ASMD to facilitate medical and personal decision making; provide counselling for families as to recurrence risk and options for prenatal diagnosis if desired | All |
Lipidologist/cardiologist | Manage the mixed dyslipidemia, and perform cardiovascular risk assessment for indicated primary or secondary prevention interventions | As needed |
Psychiatrist/clinical psychologist | Assess for behavioural disturbances, depression and manage accordingly | As needed |
Speech and language therapist | Assess for dysphagia and aspiration risk; Speech and feeding therapy for children with neuronopathic phenotypes | As needed |
Occupational and physical therapists/rehabilitation physician | Assess and develop aids and home adjustments as needed for patients with communication and physical challenges | As needed |
Nutritionist | Periodic assessments of nutritional status in patients who may be losing weight due to dysphagia or side effects of therapy; gastrostomy tube insertion as indicated | As needed |
Social worker | Support of patients and families living with disabilities who require enhanced resources in the community | As needed |
Developmental and behavioural paediatrician | Assess for the presence or absence of developmental delays in children; recommend appropriate therapies and educational interventions | As needed |