Guidelines in CHARGE syndrome and the missing link: Cranial imaging

Area of Science:

• Medical Genetics
• Clinical Medicine
• Radiology

Background:

• CHARGE syndrome presents complex and variable comorbidities, challenging clinical management.
• Existing clinical surveillance guidelines for CHARGE syndrome exist but may have gaps.
• Accurate diagnosis and management are crucial due to associated health risks.

Purpose of the Study:

• To conduct a structured literature review of existing CHARGE syndrome guidelines and recommendations.
• To validate current surveillance tools and identify areas for improvement.
• To propose a novel guideline for neuroradiological evaluation in CHARGE syndrome patients.

Main Methods:

• Structured literature review of published clinical surveillance guidelines and recommendations for CHARGE syndrome.
• Analysis of existing literature to identify gaps in care, particularly in neuroradiological assessment.
• Development of a proposed guideline for neuroradiological evaluation based on identified needs.

Main Results:

• The review provides further evidence supporting the Trider checklist for CHARGE syndrome surveillance.
• A significant gap in neuroradiological evaluation guidelines for CHARGE syndrome was identified.
• A new guideline for neuroradiological evaluation in CHARGE syndrome is proposed.

Conclusions:

• Existing guidelines, like the Trider checklist, are valuable for CHARGE syndrome care.
• A dedicated guideline for neuroradiological evaluation is needed to optimize diagnosis and treatment.
• The proposed guideline aims to enhance clinical practice and patient outcomes for CHARGE syndrome.