A Single Institution Comparison of Speech Outcomes Following Palatoplasty in Stickler Syndrome.

Abstract

Stickler syndrome (SS) is a genetic collagenopathy characterized by visual impairment, hearing loss, joint pain, and cleft palate (CP). CP patients without SS typically undergo primary palatoplasty within the first year of life; in the SS population, however, medical comorbidities can result in palatoplasty occurring later than typically advised. In this study, we evaluate the impact of palatoplasty timing on long-term speech outcomes in SS patients. A retrospective review was conducted of patients with SS who underwent palatoplasty at a tertiary children's hospital between 2006 and 2024. Data collection included patient demographics, medical and surgical history, and postoperative outcomes. Certified speech pathologists assessed speech using perceptual speech ratings. Spontaneous speech scales were used to assess articulation error severity relative to age-appropriate norms. A total of 26 patients were included, of whom 9 (35%) underwent palatoplasty within the first year of life and 17 (65%) underwent late palatoplasty after the first year of life. The overall median age at palatoplasty was 1.5 years. Palatoplasty was most commonly delayed by the need for mandibular distraction osteogenesis (n = 13), followed by respiratory distress and/or upper airway obstruction (n = 8). Late palatoplasty patients had an increased risk of obligatory errors (37.5% vs 0%, P = 0.010), compensatory errors (50% vs 11%, P = 0.044), and altered resonance (76.5% vs 44.4%, P = 0.024). Velopharyngeal insufficiency and nasal regurgitation did not significantly differ between groups. Cleft surgeons should recognize that patients with SS may not adhere to the typical CP treatment paradigm due to additional medical comorbidities and may experience speech deficits as outlined above. Additional studies are required to optimize palatoplasty timing as it relates to speech outcomes in this population.