Multidisciplinary Care for Moebius Syndrome and Related Disorders: Building a Management Protocol

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Moebius syndrome (MBS) is a rare orofacial anomaly characterized by bilateral facial palsy and absent eye abduction.
• It often presents with variable features affecting multiple systems, leading to diagnostic challenges and fragmented care.
• Lack of awareness can cause treatment delays and impact children's long-term physical and psychosocial development.

Purpose of the Study:

• To present a novel, multidisciplinary treatment protocol for Moebius syndrome and related conditions.
• To synthesize best practices from rare disease management into a holistic approach for MBS.
• To outline a sequenced, "ABC-style" management strategy prioritizing early-life needs.

Main Methods:

• Development of a multidisciplinary team including core clinicians (physician, geneticist, SLP, psychologist, nurse) and specialists for affected systems.
• Creation of a treatment protocol integrating care from a specialized pediatric center for rare diseases.
• Sequencing management priorities based on an "ABC-style" approach (Airway, Breathing, Circulation/Swallowing).

Main Results:

• The protocol prioritizes early management of airway, feeding, vision, and speech.
• Key early priorities include airway stabilization, swallow assessment, ocular surface protection, and nutritional support.
• Later-stage management focuses on psychological support, addressing low mood, self-esteem, and bullying.

Conclusions:

• A multidisciplinary, holistic approach is crucial for managing Moebius syndrome.
• The "ABC-style" protocol provides a structured framework for prioritizing interventions from infancy through later childhood.
• This comprehensive strategy aims to improve physical health and psychosocial outcomes for children with MBS.