A Novel Macroglossia Severity Index for Beckwith-Wiedemann Syndrome.

Abstract

We propose the first classification scheme for macroglossia in patients with Beckwith-Wiedemann syndrome (BWS), the BWS Index of macroglossia (BIG). A clinically relevant anatomic scoring system to better characterize macroglossia severity could improve care in BWS. Patients with molecularly confirmed BWS seen were included. Relationships among BIG scores, tongue reduction surgery, clinical score, percent mosaicism, and polysomnography were examined. Patients were classified from BIG0 to BIG3. BIG0 included those without macroglossia; BIG1 included those with macroglossia not protruding beyond the teeth/alveolus; BIG2 included those with tongue protrusion beyond the teeth/alveolus to the lips but can be contained within the mouth; and BIG3 includes those with tongues that protrude beyond the teeth/alveolus and lips but cannot be closed within the mouth.Of the 459 patients with molecularly confirmed BWS, 266 (58.0%) patients were scored. One hundred eleven (41.7%) were BIG0, 44 (16.5%) were BIG1, 90 (33.8%) were BIG2, and 21 (7.9%) were BIG3. As scores increased, patients more frequently underwent tongue reduction surgery (BIG0: 0% vs. BIG1: 20.5% vs. BIG2: 51.1% vs. BIG3: 100%; r =0.66, P <0.01). Higher BIG scores were associated with elevated BWS clinical scores ( r =0.68, P <0.01) and increased tissue mosaicism ( r =0.50, P <0.01) as well as trends towards worse obstructive apnea-hypopnea indices ( r =0.29, P =0.02) and lower SpO 2 nadirs ( r =-0.29, P =0.02). In this large series of patients with Beckwith-Wiedemann syndrome, increased BIG score correlated with undergoing tongue reduction surgery and increased phenotypic severity. Adoption of this scoring system may facilitate communication and risk stratification across institutions.