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An Evidence-Based Algorithm for Conservative Management of Macroglossia in Beckwith-Wiedemann Syndrome
Dominic Romeo
*1, Connor S. Wagner
1, Manisha Banala
1, Benjamin Massenburg
1, Andrew George
1, Meagan Wu
1, Jinggang Ng
1, Christopher M. Cielo
2, Theodor Lenz
1, Patrick Akarapimand
1, Jennifer M. Kalish
3, Jesse A. Taylor
11Division of Plastic, Reconstructive and Oral Surgery, Children's Hospital of Phiadelphia, Philadelphia, PA; 2Division of Pulmonology, Children's Hospital of Philadelphia, Philadelphia, PA; 3Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA
Background: While severe macroglossia in Beckwith-Wiedemann Syndrome (BWS) is often treated with tongue reduction surgery, most patients with mild to moderate macroglossia are non-surgically managed. Given that outcomes for these conservatively managed patients are not well characterized, this study aims to describe the natural history of patients with macroglossia and BWS who did not undergo early surgery.
Methods: Records of patients with BWS and macroglossia seen between 2004-2024 were reviewed. Conservative management was defined as not having had surgery during the first three years of life. Macroglossia was rated using the BWS index of macroglossia (BIG) scale to stratify phenotypic severity. Relationships among polysomnography data, surgical incidence, percentage mosaicism, and clinical scores were assessed.
Results: Three hundred twenty patients with BWS and macroglossia were included, 231 (72.2%) of whom were conservatively managed. As BIG scores increased from BIG1 (mild) to BIG2 (moderate) to BIG3 (severe), both OSA severity (p<0.001) and surgical incidence increased (p<0.001). Among conservatively managed patients, obstructive apnea-hypoxia index (OAHI) improved from 4.5 (interquartile range: 2.7-11.2) events/hour (age 0.4 (0.2-0.7) years) to 3.6 (1.3-6.1) events/hour (age 2.2 (1.7-2.6) years, p=0.025). BIG scores also improved in this cohort from 2.0 (1.0-2.0) at 0.8 (0.4-1.5) years of age to 1.0 (1.0-2.0) at 2.6 (2.2-3.7) years of age (p=0.019). Compared to BIG1, the hazard ratio (HR) for surgery in patients assigned BIG2 scores was 3.5 (95% CI 1.5-8.3, p=0.004, Figure 2) and those assigned BIG3 had a HR of 15.6 (95% CI 6.3-39.1, p<0.001).
Conclusion: Non-surgical management in the first three years of life for mild and moderate macroglossia in Beckwith-Wiedemann syndrome is associated with favorable outcomes. Obstructive sleep apnea and macroglossia often improve as the facial skeleton grows to accommodate the tongue.
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