Mucopolysaccharidosis Type II Screening, Diagnosis, and Management: A Literature Review and Practical Recommendations for Newborn Screening Programs and Health Care Providers to Support Families and Improve Outcomes.

Summary

This narrative literature review presents practical recommendations from a multidisciplinary expert panel on US-based newborn screening for mucopolysaccharidosis type II (Hunter syndrome), together with its diagnosis and clinical management. For screening programmes it covers universal access, tiered testing to support diagnostic accuracy, and infrastructure for confirmatory testing and post-screening family support. For health care providers it emphasises empathetic communication of results with verbal and written information, and consultation with MPS II specialists. It highlights coordinated working between screening programmes, clinicians and patient advocates to ensure equitable access to treatment and long-term care.

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