Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus Statement

Area of Science:

• Genetics and Developmental Biology
• Endocrinology
• Cardiology

Background:

• Noonan syndrome (NS) is a rare RASopathy with variable presentation, making diagnosis and management challenging.
• Existing guidelines for NS care are outdated, necessitating updated recommendations for consistent patient management.
• A multidisciplinary approach is crucial for comprehensive NS care from infancy through adulthood.

Purpose of the Study:

• To develop consensus statements for Noonan syndrome (NS) diagnosis.
• To provide guidance on patient transition from pediatric to adult care.
• To establish recommendations for follow-up and treatment of short stature with recombinant human growth hormone (rhGH).

Main Methods:

• Modified Delphi process involving a multidisciplinary steering committee and a 25-member expert panel.
• Drafting 47 consensus statements based on evidence and clinical experience.
• Anonymous feedback and voting by the expert panel to achieve consensus.

Main Results:

• Consensus was achieved on all 47 statements after the first round of voting.
• Key agreements include the importance of molecular characterization, multidisciplinary care, and improved pediatric-to-adult transition.
• Safety considerations for rhGH therapy, particularly regarding hypertrophic cardiomyopathy (HCM) and neoplasms, were highlighted.

Conclusions:

• Effective Noonan syndrome (NS) management necessitates a personalized, multidisciplinary strategy.
• These consensus statements provide clinicians with updated guidance for improved patient care.
• The recommendations cover diagnosis, treatment, and long-term follow-up for NS patients.