Robin Sequence: 5-Year Speech Outcomes—A Case-Control Study
Year: 2022
Type: article
Abstract: We read with great interest the recent work of Schwaiger et al., and we congratulate the authors on their extensive work and findings on speech outcomes in patients with Robin sequence versus patients with isolated cleft palate.1 In particular, their objective speech assessment using the Great Ormond Street Speech Assessment and Cleft Audit Protocol for Speech-Augmented is impressive. The pathogenical heterogeneity of Robin sequence complicates the associated treatment of cleft palate repair in these patients.2 Intrinsic factors can affect speech in distinct manners aside from the cleft palate, such as connective tissue disease in Stickler syndrome or hypotonia in 22q11.2 deletion syndrome.3–5 Humphries and Taylor’s discussion of the work of Schwaiger et al. mentions the importance of clear categorization of whether Robin sequence occurs in the presence of a syndrome or other congenital anomalies (syndromic Robin sequence/ Robin sequence-plus) or not as an isolated entity.6 Schwaiger et al. suggest in their article that “it is not the severity of cleft type only that may affect the severity of speech outcome at age 5 and that there is possibly something intrinsic in the diagnosis of Robin sequence that causes poorer speech outcomes.” There are two important issues that we would like to address. First, the authors did not include the width of the Robin sequence–associated cleft palate. In their Discussion section, they refer to the study of Hardwicke et al., which matched patients with Robin sequence to patients with isolated cleft palate for sex, age at repair, and cleft severity based on the lip, alveolus, hard palate, soft palate, alveolus, and lip (LAHSAL) classification, but again, these authors did not include cleft palate width.7 As demonstrated in Table 1, some studies have investigated the width of the cleft palate in Robin sequence and demonstrated a wide cleft palate in these patients. [See Appendix, Supplemental Digital Content 1, which shows a reference list for Table 1 and Table 2, https://links.lww.com/PRS/F252.] One study found a significantly wider and more severe cleft palate in Robin sequence compared to their cohort of patients with isolated cleft palate.8 Table 1. - Studies Demonstrating a Wide Cleft Palate in Robin Sequence Author Year No. of RS Patients No. of ICP Patients Cleft Palate Classification* Cleft Palate Type Cleft Palate Width Collares et al. 2016 24 nonsyndromic — — 88% U shaped; 12% V shaped UB–UB: 11.50 mm (11.00–12.00); PNS–PNS: 10.33 mm (9.60–11.07) Morice et al. 2018 130 (34 syndromic, 96 isolated) — Veau 95% U shaped; Veau type 1, 55%; Veau type 2, 45% Soft CP width: narrow 3%, medium 45%, wide 52%.Hard CP width (% of intermaxillary tuberosity distance measured on maxillary casts): <20 mm, 27%; 20–40 mm, 55%; >40 mm, 18%; it was >20% in more than two-thirds of the patients (63/87; 72%) Gustafsson et al. 2020 78 nonsyndromic — Jensen Grade 1, 0%; grade 2, 13%; grade 3, 61%; grade 4, 26% CP width: <9 mm, 33%; 10–12 mm, 47%; >13 mm, 21%The border of the soft and hard palate served as the measure point for CP width. Logjes et al. 2021 75 (41 syndromic, 55 isolated) 83 Jensen RS: grade 1, 5%; grade 2, 11%; grade 3, 28%; grade 4, 56%ICP: grade 1, 19%; grade 2, 33%; grade 3, 21%; grade 4, 27% RS: narrow (<5 mm), 5%; medium (≥5 mm and <10 mm), 23%; wide (≥10 mm and ≤14 mm), 53%; extremely wide (≥15 mm), 19%ICP: narrow (<5 mm), 13%; medium (≥5 mm and <10 mm), 46%; wide (≥10 mm and ≤14 mm), 37%; extremely wide (≥15 mm), 4% RS, Robin sequence; CP, cleft palate; ICP, isolated cleft palate; UB–UB, from uvular base to the contralateral uvular base; PNS–PNS, from posterior nasal spine to contralateral posterior nasal spine.*Jensen cleft classification was classified as follows: grade 1, soft cleft palate; grade 2, cleft extending to one-third of hard palate or less; grade 3, cleft extending to over one-third of the hard palate; grade 4, total cleft, with cleft extending to the foramen incisivum. Table 2. - Studies with Multivariable Analyses to Predict Velopharyngeal Insufficiency Outcomes Author Year No. of Patients Findings of Multivariable Analysis for Speech Outcomes Lam et al. 2012 61 ICP VPI and cleft width >10 mm (OR, 4.5; 95% CI, 1.1–18.7) Leclerc et al. 2013 67 ICP/CLP Best parameter for VPI was cleft width at the hard palate level >9 mm (RR, 2.7–3.8; sensitivity, 67–73%; p < 0.04) Mahoney et al. 2013 485 CP/CLP Width was independent predictor of VPI (OR, 1.1; 95% CI, 1.02–1.20; p = 0.0128) Yuan et al. 2016 177 CLP VPI requiring surgical intervention was associated with increasing cleft width (OR, 1.29; p = 0.011) Wu et al. 2017 45 CLP Increasing cleft width significantly predicts increased hypernasality (p < 0.05) Botticelli et al. 2019 125 UCLP Cleft size at tuberosity level is a modest indicator for the prognosis of VPI at age 5 years (OR, 1.17; 95% CI, 1.01–1.35; p = 0.032) ICP, isolated cleft palate; CLP, cleft lip and palate; CP, cleft palate; UCLP, unilateral cleft lip and palate; VPI, velopharyngeal insufficiency; RR, relative risk; OR, odds ratio. Second, there exists a need for more evidence-based approaches in the surgical treatment of cleft palate in Robin sequence. These patients have additional variables that can influence speech outcomes, including different etiology and anatomy, underlying syndromic diagnosis, possible delayed repair, and neonatal airway interventions. Schwaiger et al. investigated the association between one certain variable and 5-year speech outcome, without controlling for the other variables that might be associated with velopharyngeal insufficiency in Robin sequence.1 Future studies should include multivariable analysis, in order to attain high-quality scientific evidence studies that can draw conclusions and can answer the question, “which associated variables can predict velopharyngeal insufficiency in patients with Robin sequence?” Table 2 lists studies that have performed multivariable analyses to predict velopharyngeal insufficiency outcomes in patients with cleft lip and/or cleft palate and demonstrated cleft width to be an independent predictor for velopharyngeal insufficiency. [See Appendix, Supplemental Digital Content 1, https://links.lww.com/PRS/F252.] Logjes et al. reported an accurate anatomic description of the cleft palate (a combination of anterior-to-posterior and side-to-side dimensions) that permitted evaluation of its association with long-term speech outcomes using multivariable logistic regression analysis.8 A wider and more severe cleft palate anatomy was the only factor independently associated with velopharyngeal insufficiency, in contrast to age at repair, syndromic Robin sequence compared to isolated Robin sequence, isolated Robin sequence compared to isolated cleft palate, and initial tongue-lip adhesion. In conclusion, patients with Robin sequence have a different cleft palate anatomy compared to patients with isolated cleft palate, and it might be just the width of the cleft palate that Schwaiger et al. are looking for to predict speech outcomes in Robin sequence. Cleft palate width is a unique preoperative factor that should be considered and studied as a potential predictor of speech outcomes in Robin sequence. DISCLOSURE The authors have no financial interest to declare in relation to the content of this communication. Robrecht J. H. Logjes, M.D.Department of SurgeryDivision of Plastic and Reconstructive Surgery, and Craniofacial CenterUniversity of California, San FranciscoSan Francisco, Calif. Corstiaan C. Breugem, M.D., Ph.D.Department of SurgeryDivision of Plastic and Reconstructive SurgeryUniversity Medical Center AmsterdamEmma Children’s HospitalAmsterdam, the Netherlands Jason H. Pomerantz, M.D.Department of SurgeryDivision of Plastic and Reconstructive Surgery, and Craniofacial CenterUniversity of California, San FranciscoSan Francisco, Calif.
Source: Plastic & Reconstructive Surgery
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4283013105