Speech Outcomes in Children with Robin Sequence Treated with a Pre-Epiglottic Baton Plate

Abstract

Objective

To analyze speech outcomes and cleft shape changes in children diagnosed with Robin sequence (RS) treated with a customized pre-epiglottic baton plate (PEBP).

Design

Single-surgeon retrospective analysis.

Setting

Tertiary care institution.

Patients and Participants

Twenty-five patients with RS who were treated with PEBP and primary cleft palate repair between 2010 and 2019.

Interventions

Postnatal use of a PEBP.

Main Outcome Measures

Speech assessment at the age of 3.5 to 4.5 years documenting hypernasality, nasal emission, nasal turbulence, voice quality, and consonant production, and analysis of digitally scanned cast models before and after the use of PEBP to quantify changes in cleft shape and width.

Results

The study cohort (N = 25) consisted of 19 patients with hard and soft cleft palates and 6 patients with soft cleft palate only and postnatal use of PEBP. The mean reduction in cleft width following PEBP treatment prior to cleft palate repair in 19 infants with hard and soft cleft palates was 41.30% (standard deviation, 13.25). Speech assessments were conducted at a mean age of 48.5 months in all 25 children treated with PEBP. Most children presented with absent or mild hypernasality (96%), a rate of 8% of nasal emission and 4% of nasal turbulence was found. The most frequent findings were articulation errors in 14 children (56%), of whom 2 presented with cleft-type characteristics.

Conclusions

Children with RS and cleft palate treated with PEBP demonstrated a narrowing of the cleft palate prior to a timely surgical repair, and favorable speech outcomes already at a young age during childhood.

Introduction

With a prevalence of 1 case per 8500 to 14 000 live births,^1–3 Robin sequence (RS) is a rare condition characterized by the triad of nasal airway obstruction (NAO), micrognathia, and glossoptosis, first described by Pierre Robin. ⁴ Most infants with RS (up to 85%) present with a cleft palate, which is often U-shaped in RS.^5,6 The initial term syndrome was later changed into sequence based on the series of mandibular hypoplasia leading to a small mouth opening with a long-lasting entrapment of the tongue, and the secondary abnormal position of the tongue impeding the palatal fusion.^5,7

The challenges associated with RS during infancy and childhood can affect normal development. First, during the peri- and postnatal periods of life, difficulties with respiration, swallowing, and feeding may occur, resulting in a failure to thrive. ¹ These problems may require emergency medical interventions and/or protracted treatment and care. Furthermore, major risks during the peri- and postoperative phase of the cleft palate repair arise from the anatomical conditions compromising anesthesiology and operative outcomes and are generally captured by the term “difficult airway during childhood.”^8–10 If these problems are not adequately addressed, they may persist into adulthood, resulting in difficult airways or obstructive sleep apnea. ¹¹

Restricted mouth opening combined with glossoptosis and retrognathia complicates the placement of a mouth gag during surgical cleft palate repair and limits access to the surgical site. Furthermore, the extent of the cleft palate may compel the surgeon to resort to a range of surgical techniques and is the reason for secondary procedures being required in some patients.^12,13 Surgical efforts in wide clefts are directed towards closing the gap in the horizontal direction, which counteracts the velar lengthening of the inborn short velum.

Notably, the width of the cleft palate in RS has previously been reported to be a predictive factor for speech outcomes. ¹⁴ Early cleft palate repair is recommended to improve speech development and does not lead to anterior growth impairment, as demonstrated in patients with an isolated cleft palate. ¹⁵ However, in infants with RS, surgery for the cleft palate repair is often postponed owing to airway difficulties. Delayed surgical cleft repair may account for the less favorable speech outcomes reported in children with RS than those in children with isolated cleft palates.^12,14,16

To date, there is no consensus regarding the management of RS. The NAO grade determines the initial therapy, which differs from center to center depending on resources, preferences, and competences. ¹⁷ Management of RS may include watchful waiting, prone positioning, endotracheal intubation, nasopharyngeal airway insertion, continuous positive airway pressure, a pre-epiglottic baton plate (PEBP), tongue-lip adhesion, mandibular extension, mandibular distraction osteogenesis, or tracheostomy as ultima ratio therapy. The 2024 European guidelines from the European Reference Network for Rare Craniofacial Anomalies and Ear, Nose and Throat Disorders (ERN-CRANIO) recommend the use of nonsurgical treatment techniques including the use of PEBP, and state that mandibular distraction osteogenesis or tracheostomy may only be considered in non-responders. ³

Children with isolated cleft lip and/or palate commonly exhibit velopharyngeal dysfunction and atypical articulatory patterns, frequently referred to as cleft-type characteristics (CTCs). ¹⁸ As compared to children with isolated cleft palate, children with RS present with more frequent and severe articulation errors.^12,16,19,20 The rate of velopharyngeal deficiency in patients with RS was 14.3% to 60%,^21,22 and only 32% of 5-year-old children had good articulation skills without cleft speech characteristics. ¹⁹ Details on speech assessment following different treatment strategies of RS during the postnatal period are limited. Articulation errors, particularly involving anterior oral CTCs were more common in children aged 3 to 6 years who had undergone tongue-lip adhesion, compared to those with RS who were managed with prone positioning. ²³ Another study found that errors in /s, z/ sounds were common among all children with RS, and that /ʃ/ errors were more frequent at 3 years of age in children who had undergone tongue-lip adhesion, mandibular distraction osteogenesis, and/or tracheostomy, as compared to those who received conservative airway intervention. ²⁴ Patients who were treated with positioning or surgical intervention during infancy exhibited higher rates of velopharyngeal insufficiency compared to those with cleft palate only. ²⁵ Speech results in children with RS were inferior to those of children with isolated cleft palate, despite the postnatal treatment with nasopharyngeal/oropharyngeal tube, continuous positive airway pressure, and/or a tracheostomy in 19 out of 104 patients. ²⁶

At our center, a customized PEBP is routinely used in all infants with RS who require postnatal intensive care because of breathing and swallowing difficulties. In a previous study, we analyzed the initial postnatal treatment algorithm for PEPB use, including the manufacturing and the insertion of the PEBP, and the clinical findings in 132 patients treated with PEBP. ²⁷ A PEBP corrects the causal pathologic anatomy by normalizing the tongue position and jaw relation and benefits airway management and surgical outcomes during cleft palate repair. Despite success rates between 84% and 100%,^27–31 the PEBP is still not widely used.

Studies in the general population highlight the importance of promoting early speech development, revealing that persisting speech and language difficulties into primary school can hinder progress in literacy, relationships, and academic achievement. ³² The European guidelines recommend a speech assessment between 1.5 and 3 years of age. ³ The mean age of secondary surgery in children with RS for the correction of velopharyngeal insufficiency was 5 years of age. ²¹ Hence, this study evaluated the speech outcomes in terms of hypernasality, nasal emission, and nasal turbulence at an early age before the entry into primary school. The aim of this study was to analyze speech outcomes in children aged between 3.5 and 4.5 years of age with RS previously treated with PEBP, considering cleft shape morphology before and after treatment with PEBP, and surgical details.

Methods

Ethics Approval

Ethical approval was granted by the Ethics Committee of the Charité-Universitätsmedizin Berlin (EA2/273/22). This study adhered to the tenets of the Declaration of Helsinki.

Patients and Methods

This retrospective study included all patients who presented with a diagnosis of RS and cleft palate at the Cleft Center of the Department of Maxillofacial and Oral Surgery at Charité-Universitätsmedizin Berlin between 2010 and 2019 and were treated with a patient-specific PEBP. All patients underwent surgical treatment by an experienced cleft surgeon. The patients were screened according to the International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) code Q87.0: congenital malformation syndromes predominantly affecting facial appearance. Data on demographics, non-invasive and surgical treatments, development, and speech outcomes were retrieved from patient records and evaluated.

Patient Selection

Figure 1 shows the patient selection process as a modified Consolidated Standards of Reporting Trials (CONSORT) diagram. ³³ Of the 76 patients screened, 25 were identified after careful review of patient records and consideration of the inclusion and exclusion criteria. Patients with Stickler's syndrome were included because this syndromic disease is common in patients with RS. Patients were excluded if other anomalies of the head and neck, such as cleft lip or other syndromic diseases, were present, as these were considered relevant cofactors for speech assessment. Patients with insufficient data or children who had not reached the age of 3.5 to 4.5 years by the time of assessment were excluded. The end of the observation period was February 2023.

Figure 1.

Flow diagram showing the patient selection process.

ICD-10, International Statistical Classification of Diseases and Related Health Problems, Tenth Revision; PEBP, pre-epiglottic baton plate.

Assessment of Cleft Shape Morphology

Digitally scanned cast models fabricated from impressions taken before insertion of the PEBP and before cleft palate repair were analyzed to assess cleft shape morphology and changes to the extent of the cleft palate. The width of the cleft was measured at the point of the palato-velar transition (Figure 2).

Figure 2.

Models indicating the measurement points for assessment of cleft shape and width (A) before the insertion of the pre-epiglottic baton plate (PEBP) and (B) following treatment with PEBP. The cleft width (red) was measured along a line drawn between the base points (B/B’) at the posterior shelf pit (foveola palatina).

PEBP, pre-epiglottic baton plate; B/B’, base points.

Of the overall study cohort of 25 children, the cleft shape morphology was analyzed in 19 children with hard and soft palate clefts. These patients were categorized according to a U-shaped or a V-shaped cleft palate. U-shaped clefts followed the exact shape of the tongue due to the positioning of the tongue within the cleft (Figure 3). Six infants who presented with a soft palate cleft only were not eligible for the analysis of cleft shape changes because their cleft extension was not always captured by the impression.

Figure 3.

Clinical pictures of a U-shaped cleft palate, often seen in children with RS (A), illustrating the entrapment of the tongue within the cleft (B).

Treatment Algorithm and Surgical Details

After the implementation of PEBPs into our clinical routine, 1 PEBP was inserted within the first 3 weeks after birth and applied for 3 months before the velum was repaired, followed by hard palate repair 6 months later. We found that the intubation problems were not completely resolved following a wearing time of 3 months with Cormack grades ³⁴ still greater than II in almost every second child. We subsequently extended the period of PEBP use from 3 to 6 months.

Simultaneously, we observed that the PEBP was associated with the narrowing of the cleft width by keeping the tongue out of the cleft. The observed cleft palate changes allowed us to gradually change from 2-stage to 1-stage palate repair at 6 months of age. From 2016 onwards, all children received 2 sequential, endoscopically guided, customized PEBPs before 1-stage cleft palate repair at 6 months of age, and the previously published practical guide for the use of PEBPs was followed. ²⁷ The first PEBP was inserted within 3 weeks after birth and worn at all times (except for daily cleaning) until the second PEBP was inserted at approximately 3 months of age to accommodate growth. The second PEBP was used for another 3 months or until the time of surgical repair.

The study cohort comprised children with RS and cleft palate who underwent 1- or 2-stage cleft palate repair. All children underwent intraoperative ear microscopy with tube placement if necessary and regular hearing checks. With increasing experience with PEBPs, pediatric anesthesiologists have abandoned the need for obligatory postoperative monitoring in intermediate care units.

Except for the use of intravelar veloplasty and vomer flaps for the nasal layer, the surgical procedure for patients with RS differs from that for patients with isolated cleft (lip) and palate. The following principles were applied for cleft palate repair in RS: (1) we always performed an adenotomy, (2) the palate was repaired exclusively by raising bilateral axial flaps orally to achieve maximal mobilization in order to release tension and lengthening of the velum, and (3) we never used additional myobuccinator flaps or velopharyngoplasties to avoid the risk of postoperative airway obstruction.

Criteria for Speech Development Analysis

Data on speech development of the 25 patients included in this study were retrieved from medical records. The assessment was conducted by 1 highly trained speech-language pathologist specialized in cleft lip and palate and velopharyngeal deficiency at our institution at the age of 3.5 to 4.5 years old, and all analyses were performed under the supervision of a phoniatrician. The medical records of the patients included details on speech development in terms of vocabulary and syntax. Furthermore, the criteria of the Great Ormond Street Speech Assessment (GOS.SP.ASS.), an assessment tool for speech disorders associated with cleft palate and/or velopharyngeal dysfunction,^35,36 were applied and documented. The following parameters were analyzed: hypernasality, nasal emission, nasal turbulence, general voice quality, i.e., concerning hoarseness, and consonant production. The level of nasal air escape was tested by auditory assessment and by Czermak's mirror test. All evaluations were performed in an age-adequate manner. Patients were interviewed and stimulated to produce specific words, sentences, or speech sounds. Additionally, parents were also interviewed on the children's speech development, speech training, or observed speech pathology.

Numerical scales modified after the Great Ormond Street Speech Assessment^35,36 were applied for comparative analyses. Numbers ranging from 0 to 4 were assigned for hypernasality. Values from 0 to 2 were determined to quantify the criteria of nasal emission, nasal turbulence, and general voice quality. A value of 0indicated that no speech disorder was present. A maximum value of 4 or 2, respectively, indicated a severe degree of speech disorder. To assess consonant production, 0 indicated no articulation errors and 1 signified errors during consonant production. Articulation errors were categorized as CTCs or non-CTCs. All documentation and speech assessments were conducted in German or English, depending on the patient's mother tongue.

Assessment of Postoperative Velar Length and Mobility, Orofacial Dysfunction, and Occlusion

In addition to a speech assessment, the postoperative clinical presentation was documented by 1 highly trained specialist at our institution at the age of 3.5 to 4.5 years. The appearance of the hard and soft palate, the velar length, and the velar mobility were clinically assessed, as previously suggested, ³⁷ and any fistulae were documented. The velar length was categorized using a 3-point scale: long, medium, and short. The velar mobility was assessed on a 2-point scale depending on its mobility upon intraoral examination and phonation, and rated as adequate or inadequate. Occlusion was assessed, and children were screened for signs of orofacial dysfunction such as habitual mouth breathing, tongue protrusion, and open bite.

Statistical Analysis

Data were collected in Microsoft Excel (Microsoft Corporation, Redmond, WA, USA), and statistical analyses were performed using IBM SPSS Statistics Version 29 (IBM Corporation, Armonk, NY, USA). Categorical variables were described as frequencies and percentages, and continuous variables were displayed as mean values including standard deviation (SD).

Results

Patient Characteristics

This retrospective study identified 25 patients with RS that were treated with PEBPs between 2010 and 2019 and received a speech assessment between 3.5 and 4.5 years of age. Table 1 shows the patient characteristics. Eight male (32%) and 17 female (68%) patients with a mean age of 48.5 months (range 43-53 months) at the time of speech evaluation were included. Three children were diagnosed with Stickler's syndrome.

Table 1.

Details on Speech Assessment.

	One-stage cleft repair (N = 14) N (%)	Two-stage cleft repair (N = 11) N (%)	Overall (N = 25) N (%)
Hypernasality
Absent (0)	11 (78.57)	5 (45.45)	16 (64.0)
Minimal (1)	1 (7.14)	2 (18.18)	3 (12.0)
Mild (2)	1 (7.14)	4 (36.36)	5 (20.0)
Moderate (3)	0	0	0
Severe (4)	1 (7.14)	0	1 (4.0)
Nasal emission
Absent (0)	12 (85.71)	11 (100)	23 (92.0)
Mild (1)	1 (7.14)	0	1 (4.0)
Severe (2)	1 (7.14)	0	1 (4.0)
Nasal turbulence
Absent (0)	13 (92.86)	11 (100)	24 (96.0)
Mild (1)	1 (7.14)	0	1 (4.0)
Severe (2)	0	0	0
Changes in general voice
Absent (0)	13 (92.86)	9 (81.82)	22 (88.0)
Mild (1)	1 (7.14)	2 (18.18)	3 (12.0)
Severe (2)	0	0	0
Consonant articulation errors
Absent (0)	3 (21.43)	8 (72.73)	11 (44.0)
Errors (1)	11 (78.57)	3 (27.27)	14 (56.0)
Non-CTCs			12/14 (85.71)
CTCs			2/14 (14.29)

CTCs, cleft-type characteristics.

All children were diagnosed with RS with cleft palate and received customized PEBPs at a mean of 5 days after birth (1-21 days). Overall, 19 patients had hard and soft cleft palates, of whom most patients (N = 14; 56%) presented with U-shaped hard and soft cleft palates, and 5 patients (20%) had V-shaped hard and soft cleft palates. Six patients (24%) presented with a soft cleft palate only.

Polysomnography prior to surgical cleft palate repair was only available in 12 of 25 patients. Therefore, polysomnography results were not considered for further analysis in this study. None of the patients required respiratory support or a nasogastric tube at the time of cleft palate repair. Eleven patients underwent 2-stage cleft palate repair, and 14 patients underwent 1-stage repair.

Changes in Cleft Shape Morphology After PEBP

The assessment of cleft width changes in infants prior to and after PEBP treatment was conducted in 19 patients with hard and soft cleft palates. Changes in cleft width, measured at the transition zone from the hard to soft palate following treatment with the PEBP, were assessed by accounting for the differences between U-shaped and V-shaped cleft palates (Figures 4 and 5). The mean overall reduction in cleft width after PEBP treatment was 41.30% (SD = 13.25). The mean narrowing in the cleft width following treatment with PEBP in children with a U-shaped hard and soft cleft palate (N = 14) was 4.66 mm (2.70-7.10 mm), with a mean reduction in cleft width of 43.47% (SD = 14.51). The mean change in the cleft width in V-shaped clefts was 2.68 mm (1.90-4.50 mm), which equals a mean reduction in cleft width of 35.20% (SD = 6.48). Following the use of PEBP, 11 of the 14 U-shaped clefts changed into a V-shape at the time of cleft palate repair.

Figure 4.

Diagram demonstrating the cleft width before and after the use of the pre-epiglottic baton plate. A U-shaped cleft was observed in 14 patients.

PEBP, pre-epiglottic baton plate.

Figure 5.

Box plots demonstrating the percentage reduction in cleft width following treatment with pre-epiglottic baton plate in patients with U-shaped cleft palate and V-shaped cleft palate.

PEBP, pre-epiglottic baton plate.

Speech Assessment

All 25 children included in this study cohort with postnatal use of PEBP prior to cleft palate repair received a speech assessment at a mean age of 48.5 months. Most children treated with PEBPs exhibited no or minimal/mild findings of hypernasality (96%) and had a low incidence of nasal emission (8%) and nasal turbulence (4%). Fourteen children (56%) presented with impaired consonant production, mostly developmental speech errors, and only 2 children showed CTCs. Voice disorders such as increased speaking pitch or mild hoarseness occurred in 12% of patients. Details of the speech assessment are presented in Table 1. Seven patients (28%) had been receiving speech therapy at the time of speech assessment. In 2 of these 7 children, speech therapy had been recommended by a speech-language professional, whereas parents had initiated speech therapy of their own choice in the other 5 cases. Three children were assessed in English based on their mother tongue, while the others were assessed in German. Two children were raised bilingually.

Postoperative Velar Length and Mobility, Orofacial Dysfunction, and Occlusion

Postoperative clinical presentation was documented at the time of speech assessment. A non-functional palato/velar fistula was evident in 1 child, accounting for a fistula rate of 4%. Two children had long and 13 had medium soft palates, whereas 10 had a relatively short velum. The mobility of the velum was adequate in 24 children and inadequate in 1 child. Assessment of orofacial dysfunction revealed 1 child with habitual mouth breathing and 1 child with tongue protrusion and an open bite related to a thumb-sucking habit. One child had an anterior edge-to-edge bite, 1 had a tendency toward angle class II occlusion, 2 had a tendency toward class III occlusion, and 23 had maxillo/mandibular crowding.

Discussion

This study showed the treatment outcomes following the use of PEBPs in children with RS. Changes in the cleft shape and surgical details were further considered because the width of the cleft palate in RS has previously been suggested as an important predictive factor for speech outcomes. ¹⁴ In our patient cohort, PEBPs successfully narrowed the cleft width by the time of surgical repair by an average of 41.3%, which is an important factor in successful cleft palate repair and beneficial long-term outcomes. Speech analysis found very favorable results for nasal emission and nasal turbulence, and favorable results for the assessment of hypernasality, despite the relatively young age at the time of speech assessment and the regular use of adenotomy (which is generally not performed in patients with cleft palate, because the presence of adenoids reduces the velopharyngeal distance ³⁸ ), with no patients presenting with medium and only one with severe hypernasality scores between 3.5 and 4.5 years of age.

Errors in consonant production were most frequently detected. This finding may be partly attributed to the young age of the patients at the time of speech assessment and the high proportion of patients with non-CTCs, i.e., concerning /s, z/ sounds. Further statistical analyses, that is, to compare speech outcomes between children who underwent 1- or 2-stage surgery, were not performed because of the limited sample size. There are few previous publications on speech development in children with RS treated with PEBPs. A study of 22 children with RS demonstrated very favorable speech results and the effectiveness of the PEBP, ³⁹ which is consistent with our results.

Previous studies have indicated some intrinsic restriction of the jaws in children with cleft palate, ⁴⁰ which could be the reason for the dental crowding in 23 of the 25 patients in our study. In our study, we identified 2 children with class III tendencies. We have no explanation for this observation, but an exaggerated power of the PEBP may be suggested. To control for such forces, we implemented the use of a pressure gauge for the PEBP starting with 4 N after insertion of the PEBP and 2 N during the retention phase before surgical cleft palate repair. One patient had a non-functional pinhole palato-velar fistula, which may be within the reported limits. We believe that fistula formation can be prevented by including myobuccal or pharyngeal flaps. However, we avoided the use of additional flaps in the primary repair, particularly in children with RS and delicate airway conditions. Instead, we focused on diligent maximal palatal flap raising and extensive mobilization by careful preparation during the primary operation to prevent the need for secondary procedures, such as velopharyngoplasties, which can be risky in the airway of this specific patient cohort.

Our findings suggested the effectiveness of the PEBP prior to cleft palate repair by narrowing the cleft width and enabling optimal cleft palate repair at between 6 and 8 months of age, at a comparable time point to children with isolated cleft palate, without further delay. Early resolution of upper airway obstruction, correction of tongue position, forward development of the mandible, and timely cleft palate repair, which can be facilitated by the PEBP, are preconditions for the normalization of the jaw relationship and the adequate development of oral motor skills and speech.

A few other studies that did not include any details on the management of RS in the postnatal period reported no inferior speech outcomes in children with RS than in children with isolated cleft palate using the 3-flap technique or Furlow veloplasty.^21,41,42 It would be interesting to understand how the authors managed the initial NAO. From our perspective, the initial NAO management and regular audiology assessments are crucial factors in preventing adverse outcomes. We did not incorporate a comparative study design or an additional study group of patients with isolated cleft palate because the details of the surgical treatments differ between the patient groups. Furthermore, patients with syndromal RS were not included in this study cohort because their anatomical features are distinct. These patients may present with a high palate and/or an extremely thin and/or cranially positioned vomer with limited or no accessibility, which may require a different surgical approach.

Most studies of speech outcomes in children with RS have used different treatment algorithms, assessment tools, and patient inclusion criteria. Discrepancies in the initial treatment modalities, cleft width, time point, and technique of cleft palate repair have been discussed as possible explanations for poorer speech outcomes and higher fistula rates in patients with RS than in those with isolated cleft palate.^{3,12,16,19,20,26} Other studies on speech outcomes have not included children younger than 5 to 6 years. ³⁹ In our study, speech outcomes were evaluated in children between 3.5 and 4.5 years old to determine the earliest possible speech development status when the phoneme inventory has been largely acquired except for some sibilants and consonant clusters, including /s/, /ç/, and /ʃ/ sounds, ⁴³ and a first assessment is feasible. This is only possible if cognitive abilities, such as language development, are not seriously impaired. The reasons for the evaluation of speech outcomes at this young age in this study were the recommendation of a speech assessment by the age of 3 years by the European guidelines, ³ and a young mean age of secondary surgery for the correction of velopharyngeal insufficiency of 5 years of age. ²¹ Studies in the general population highlight the importance of early speech development, ³² which further encourages the early assessment of speech outcomes prior to the entry into primary school. Hence, we will continue to evaluate the speech results of this study group over time at the ages of 5.5 to 6.5, 8.0 to 9.0, and 12.0 to 13.0 years.

Conclusion

This study demonstrated the beneficial long-term effects of the PEBP on speech development in children with RS. The use of PEBP led to the narrowing of the cleft palate and a delayed cleft palate repair was avoided in all patients. The timely surgical repair is an important factor for the age-appropriate speech development. This argument is reinforced by the favorable speech results, already at a young age, in children treated with PEBP presented in this study. Future studies will include an analysis of the Cormack-Lehane grading ³⁴ in patients with RS before cleft palate repair, as well as the further development of these patients during childhood. Further efforts should be directed toward the evaluation of outcomes following the application of the PEBP in children with syndromal RS.