Recommendations for the diagnosis and management of neurofibromatosis type 1 in Singapore: A Delphi consensus.

Abstract

Introduction Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder with wide phenotypic variability, necessitating coordinated multidisciplinary care and Singapore-relevant guidance. This study aimed to develop Singapore-specific, consensus-based recommendations for NF1 diagnosis, surveillance, and management. Method The study involved 2 rounds of online surveys and a participant meeting with 24 experts from Singapore. Following a literature review, a 151-statement questionnaire was developed (133 Likert-style statements, 13 open-ended questions, 5 single-select questions). Statements were rated on a 9-point Likert scale with a predefined consensus threshold of ≥75%; analyses were performed after each round. Results Surveys 1 and 2 involved 19 and 17 participants, respectively, with 14 attending the meeting. Consensus was reached for 113/133 statements in Survey 1 and 9/21 in Survey 2. Experts reached consensus on genetic testing across diagnostic scenarios, including Sproutyrelated EVH1 domain‑containing protein 1 analysis and ribonucleic acid testing. Agreed surveillance incorporated examinations twice a year until the age of 5 years, at least annually thereafter in childhood, annual symptom checks in adults with triennial specialist review, and targeted MRI-based imaging, including whole-body magnetic resonance imaging around transition. Management recommendations favoured multidisciplinary review and surgical resection when feasible. Conclusion This Delphi consensus provides unified recommendations to support consistent NF1 care across paediatric and adult services in Singapore, while highlighting areas without consensus and priorities for implementation and further research.