Multidisciplinary Team Approach

The multiple organ systems affected by MPS I/MPS II necessitates a multidisciplinary approach to management.

Following diagnosis with MPS I or MPS II, a team of paediatric subspecialists is generally required to perform a comprehensive physical, biochemical, and behavioural evaluation. All systems affected by MPS I/MPS II should be evaluated, including the musculoskeletal and cardiovascular systems, ears, airways, eyes, skin, nervous system, abdomen and gastrointestinal system. This requires a host of assessments such as clinical examination, echocardiogram and electrocardiogram, radiological imaging, neurobehavioral assessment/cognitive testing, ophthalmological assessments, otological and audiological examinations, upper airway examination, abdominal ultrasound, and formal or informal assessment of psychological wellbeing.^1,2

Because of the progressive nature of MPS I/MPS II, close monitoring and regular comprehensive evaluation every 6-12 months is recommended. Patients with rapidly progressing disease may require more frequent evaluations.^1,2

The primary care provider or paediatrician can play an important role in disease management by coordinating patient care and facilitating communication among the care team and with the patient’s family.^2,3 The care team usually includes paediatric subspecialists in anaesthetics, cardiology, neurodevelopment, neurosurgery, ophthalmology, orthopaedics, otorhinolaryngology, and respiratory medicine.³ Patients also benefit from supportive services such as physiotherapy, occupational therapy, speech therapy, audiology, dentistry, and behavioural therapy.

Patients and their families should also be offered psychological and social support following diagnosis and before and after treatment. Patient societies can provide valuable psychosocial support. Family members should be provided with genetic counselling to assist with family planning.^1,2