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Lateral view of an infant with syndromal RS requiring a naso-pharyngeal airway for airway obstruction. The patient was successfully transitioned to a PEBP, which was used for 3 years with no complications, and had cleft palate repair at 4 years of age. The same patient is shown on the right at 6 years of age. Left panel reprinted from Bacher M. et al., Laryngo-Rhino-Otologie 2010;89:621-7, with permission. Photographs shown with parental permission.
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Pierre Robin Sequence commonly presents with upper airway obstruction secondary to craniofacial anomalies and can be managed with several treatment modalities. In mild cases, non-invasive postural management is a good treatment option. Prone position has been established as the posture of choice to reduce potential upper airway obstruction. We repo...
Patients with Pierre Robin sequence exhibit varying degrees of airway obstruction and feeding difficulty. In some patients, airway obstruction may be profound, warranting surgical intervention to maintain a patent airway. The purpose of this article is to highlight the advantages of the tongue-lip adhesion procedure for the management of airway obs...
Background
Various conservative and surgical approaches exist to treat Robin sequence (RS), but their effects on facial profile and mandibular catch-up growth are unclear. A functional treatment concept, used in our centre for 25 years, includes an individualized palatal plate with a velo-pharyngeal extension and intensive feeding training.
Method...
Citations
... Infants with Robin sequence (RS) suffer from respiratory and feeding difficulties, both related to their retro-positioned or underdeveloped mandible. Treatment protocols vary widely in RS, ranging from non-surgical (e.g., prone positioning, insertion of a nasopharyngeal tube, palatal plates or continuous positive airway pressure) to operative procedures (e.g., tongue-lip adhesion, mandibular distraction osteogenesis (MDO) or tracheostomy) [1][2][3]. However, the impact of these treatments on long-term mandibular growth has not been adequately studied. ...
Background
Various conservative and surgical approaches exist to treat Robin sequence (RS), but their effects on facial profile and mandibular catch-up growth are unclear. A functional treatment concept, used in our centre for 25 years, includes an individualized palatal plate with a velo-pharyngeal extension and intensive feeding training.
Methods
We performed a prospective study to objectively describe facial profiles in infants with RS treated with the above concept. Infants with isolated RS were admitted to our tertiary perinatal and national referral centre for craniofacial malformations between May 2018 and Nov 2019. Infants with RS received 3D-photographs during clinically indicated visits. Healthy controls were recruited from Dec 2018 to Sep 2019 and received 3D-photographs every 3 months. The digitally measured jaw index (JI), defined as alveolar overjet (O) x maxillary arch (U)/mandibular arch (L), and the soft tissue reference points A’-point, Nasion’, B’-point angle (ANB’), describing the relative position of maxilla to mandible, were evaluated. Linear mixed models were used to examine time trajectories in JI and ANB’ .
Results
A total of 207 3D images, obtained in 19 infants with RS and 32 controls, were analysed. JI and ANB’ decreased over time in both groups [for JI − 0.18 (95% CI − 0.25 to − 0.10); for ANB’: − 0.40° per month [(95% CI − 0.48 to − 0.32)]] but remained lower in controls [for JI − 2.5 (95% CI − 3.2 to − 1.8); for ANB’-1.7° (95% CI − 2.4 to − 1.0)]. Also, the ANB’ model showed a significant effect of the interaction term diagnosis x age.
Conclusions
Based on longitudinal 3D images, we describe changes in objective parameters of facial profile in infants with and without RS during the first year of life. Our findings indicate catch-up growth in infants treated for RS.
... There is scarce investigation into the effectiveness of positional treatment based on sleep study results, and current available results are not in favor of using the prone position as a single treatment modality. Moreover, the prone position is linked to a heightened risk of sudden infant death syndrome [41]. Patency of the upper airways is achieved via prone positioning- Figure 1. ...
... Patency of the upper airways is achieved via prone positioning- Figure 1. risk of sudden infant death syndrome [41]. Patency of the upper airways is achieved via prone positioning- Figure 1. ...
The Robin sequence is a congenital anomaly characterized by a triad of features: micrognathia, glossoptosis, and airway obstruction. This comprehensive historical review maps the evolution of approaches and appliances for its treatment from the past to the current modern possibilities of an interdisciplinary combination of modern engineering, medicine, materials, and computer science combined approach with emphasis on designing appliances inspired by nature and individual human anatomy. Current biomimetic designs are clinically applied, resulting in appliances that are more efficient, comfortable, sustainable, and safer than legacy traditional designs. This review maps the treatment modalities that have been used for patients with a Robin sequence over the years. Early management of the Robin sequence focused primarily on airway maintenance and feeding support, while current management strategies involve both nonsurgical and surgical interventions and biomimetic biocompatible personalized appliances. The goal of this paper was to provide a review of the evolution of management strategies for patients with the Robin sequence that led to the current interdisciplinary biomimetic approaches impacting the future of Robin Sequence treatment with biomimetics at the forefront.
... [28] There is scarce investigation into the effectiveness of positional treatment based on sleep study results, and current available results are not in favor of dare to use the prone position as a single treatment modality. Moreover, the prone position is linked to a heightened risk of sudden infant death syndrome [34]. ...
Robin sequence is a congenital anomaly characterized by a triad of features that include micrognathia, glossoptosis, and airway obstruction. This comprehensive historical review maps the evolution of approaches and appliances for its treatment from the past until current modern possibilities of interdisciplinary combination of modern engineering, medicine, materials, and computer science combined approach with emphasis to design appliances inspired by nature - individual human anatomy. Current biomimetic designs are clinically applied resulting in appliances that are more efficient, comfortable, sustainable, and safer than legacy traditional designs. Review maps the treatment modalities that have been used for patients with Robin sequence over the years. Early management of Robin sequence focused primarily on airway maintenance and feeding support, while current management strategies involve both nonsurgical and surgical interventions and biomimetic biocompatible personalized appliances. The goal of this paper was to provide a review of the evolution of management strategies for patients with Robin sequence that led to the current interdisciplinary biomimetic approaches impacting the future of Robin Sequence treatment with biomimetics at the forefront.
... The main treatment goals are to prevent the tongue from falling back, thereby avoiding potentially life-threatening hypoxemia, and to enable affected infants to be fed fully orally, which otherwise constitutes a major hurdle. These goals may be achieved via surgical (e.g., mandibular distraction osteogenesis (MDO) or tongue-lip adhesion [8,9]) or conservative (e.g., using palatal plates or a nasopharyngeal airway [10,11]) approaches. As 80-90% of RS infants also have a cleft palate, palatal plates, similar to those used for nasoalveolar molding [12], are often used to facilitate sucking. ...
... The sooner the diagnosis of RS is established, the faster and easier the plate can be fitted and inserted, the less the child will experience situations of respiratory distress and hypoxemia, and the sooner he/she will learn to feed by him/herself. While the rationale for this treatment and its effectiveness have been extensively reported [10,13,14], this is less true for the practical aspects of applying this treatment in the neonatal unit. (c) example of a TPP with its characteristic velopharyngeal extension (blue) attached to a standard palatal base plate (orange) that covers the cleft. ...
The Tübingen Palatal Plate (TPP) is a minimally invasive yet highly effective functional orthodontic treatment for upper airway obstruction in infants with Robin Sequence (RS). It consists of a palatal plate to cover the cleft and a velar extension that shifts the root of the tongue forward. We review our practical experience with this approach. First, upon admission, our local orthodontists perform an (3-D) intraoral scan of the maxilla. Based on the scan data, the TPP is manufactured in a semi-digital workflow. The length and angulation of its extension is checked via awake laryngoscopy and the effectiveness confirmed by a sleep study. Plates are kept in place by adhesive cream. When inserting the TPP, the tip of the tongue must be visible. Next, metal fixation bows should be secured to the forehead using tape and elastic bands. Plates are removed daily for cleaning, and the oral mucosa is then checked for pressure marks. Feeding training (initially only via finger feeding) may even start before plate insertion. Breathing often normalizes immediately once the plate is inserted. For isolated RS, we have never had to perform a tracheostomy. This has largely been possible through our highly dedicated and competent team, particularly the nursing staff, and the early involvement of parents.
... Because of their anatomy, infants with RS typically have OSA. Treatment of upper airway obstruction in infants with RS varies widely [2,3], based on experience, available resources and lack of comparative studies in this rare congenital disorder that affects approximately 1 in 8500 newborns [4]. In general, treatment strategies can be divided into nonsurgical (e.g. ...
Study objectives
To investigate neurocognitive and behavioral outcomes at primary school age in relation to obstructive sleep apnea (OSA) in children with Robin sequence (RS) treated with the Tuebingen palatal plate in infancy and to assess the impact of OSA in these patients.
Methods
Forty-two primary school-aged children (n=21 with Robin Sequence, n=21 age and sex-matched controls) underwent polysomnography, intelligence testing (“Wechsler Intelligence Scale for Children – Fifth Edition“ [WISC-V]) and anthropometrics. Families completed a 7-day sleep diary and questionnaires on sleep and behavior (Children’s Sleep Habits Questionnaire [CSHQ] and the Child Behavior Checklist [CBCL]).
Results
In children with RS (17 non-syndromic, 4 syndromic; median age 9.7 (8.5-10.8) years), the obstructive apnea-hypopnea index (OAHI) was significantly higher than in controls (1.3 [0.4 – 2.7]/h vs. 0.4 [0.1-0.6]/h). Two syndromic children with RS were already on nocturnal respiratory support for OSA prior to our study, and one non-syndromic child was diagnosed with severe OSA (OAHI 57/h) despite an unremarkable medical history and questionnaire. The overall intelligence quotient in children with RS was within the normal range and did not differ between children with RS and healthy peers (102 vs. 108, p=0.05). However, children with RS had values in the at-risk clinical range for externalizing behavior.
Conclusions
These children with RS showed an increased risk of OSA and behavioral problems, suggesting regular screening for OSA throughout childhood. Neurocognitive scores in children with RS were within the normal range after adequate treatment of OSA during infancy.
... Several authors reported neurocognitive deficits in RS patients [13,14]. However, whether and to what extent RS has a direct impact on patients' cognition is still unclear [3,15,16]. ...
... treatment results [3,7]. Numerous options are described in the literature, ranging from prone positioning, nasopharyngeal tube, and continuous positive airway pressure (CPAP) to more invasive procedures such as tongue-lip adhesion, mandibular distraction osteogenesis, or tracheotomy [3,7,16,21]. However, TPP yet represents the only therapeutic option for UAO whose efficacy has been demonstrated in a prospective randomized clinical trial [8]. ...
Objectives
We aimed to determine the neurocognitive development of cleft palate patients with and without Robin sequence (RS).
Materials and methods
Children with isolated RS with cleft palate and children with cleft palate only (CPO) were contacted at the age of 5–6 years. All RS children had undergone initial polygraphic sleep study (PG) with a mixed-obstructive apnea index (MOAI) of ≥ 3/h and were consequently treated with the Tuebingen palatal plate. A standardized clinical examination as well as a neuropediatric and neuropsychological examination included the Wechsler Pre-school and Primary Scale of Intelligence (WPPSI-III), Kaufman Assessment Battery for Children (K-ABC), and an assessment of developmental milestones.
Results
In total, 44 children (22RS, 22CPO) were included. RS children were younger at study (70.5 ± 7.3 and 75.2 ± 7.5 months; P = .035). Both groups achieved the evaluated milestones within the normed time frame. WPPSI-III and K-ABC results showed no group differences. Mean values for Verbal IQ (101.8 ± 11.1 vs. 97.1 ± 15.7), Performance IQ (102.9 ± 12.1 vs. 99.6 ± 14.5), Processing Speed Quotient (98.9 ± 15.6 vs. 94.5 ± 15.7), Full-Scale IQ (103.2 ± 12.1 vs. 98.4 ± 15.3), and Sequential Processing Scale (102.1 ± 13.1 vs. 94.2 ± 17.3) were within the reference range (IQ 85–115) for RS and CPO children, respectively, indicating average performance of both groups.
Conclusion
No neurocognitive, physical, or mental impairments were detected suggesting that RS children having upper airway obstruction (UAO) treated early and effectively may use their potential for an age-appropriate neurocognitive development.
Clinical relevance
Tuebingen palatal plate treatment successfully releases UAO. Thus, isolated RS does not necessarily result in developmental delay or an impaired neurocognitive outcome.
Trial registration
Deutsches Register Klinischer Studien, DRKS00006831, https://www.drks.de/drks_web/
... The estimated incidence ranges from one in 8,000 and 20,000 births, depending on the PRS definition (2,3,5,6). Airway obstruction is a major predictor of morbidity and mortality. The mortality rate of all children with PRS ranges from 1.7% to 11.3%, and in patients with associated other abnormalities it is up to 26% (3-5). ...
... In a child with PRS, the main functional problems are dynamic upper airway obstruction and feeding disorder, which cause breathing disorders and poor weight gain (2). The degree of upper airway obstruction, which occurs primarily due to micro-or retrognathia and airway obstruction with the root of the tongue, is not constant (5,7) ( Figure 1). ...
... Depending on the degree of upper airway obstruction, children with PRS may have a number of signs of respiratory distress that appear immediately after birth or in the first weeks of life (2,3). Before birth, the anomaly is rarely visible. ...
Pierre Robinova sekvenca je triada, ki jo sestavljajo mikro- in/ali retrognatija, glosoptoza in zapora zgornjih dihal, ki se ji v 90 % pridruži palatoshiza. Pri otrocih s Pierre Robinovo sekvenco sta glavni funkcionalni težavi obstrukcija zgornjih dihal in oteženo hranjenje, ki se kažeta z raznolikimi dihalnimi težavami in slabim pridobivanjem telesne mase. Pri večini bolnikov zadoščajo konzervativni ukrepi, v redkih primerih pa je potrebno kirurško zdravljenje, v najtežjih primerih pa traheotomija. Klinični oddelek za neonatologijo Pediatrične klinike UKC Ljubljana je za zdravljenje novorojenčkov s Pierre Robinovo sekvenco uvedel v slovenski prostor novo metodo, tj. vstavitev nosno-žrelnega tubusa. Ta premosti zaporo zgornjih dihal v višini korena jezika in je ob izmenični zamenjavi strani vstavitve skozi nosnici lahko nameščen daljše obdobje tudi v domačem okolju. Obravnava otrok s Pierre Robinovo sekvenco je multidisciplinarna. Pri obravnavi sodelujejo neonatolog, otorinolaringolog, maksilofacialni kirurg in pulmolog. Gastroenterolog, dietetik in genetik pa so vključeni po potrebi. Članek predstavi klinično sliko otrok s Pierre Robinovo sekvenco, metode zdravljenja in uradno klinično pot obravnave v Sloveniji.
... Therefore, identification and subsequent treatment of upper airway obstruction and feeding difficulties is particularly important in RS, especially since failure to thrive is associated with impaired neurodevelopment, at least in preterm infants [19]. Treatment protocols vary widely in RS, ranging from non-surgical (e.g., prone positioning, insertion of a nasopharyngeal tube or continuous positive airway pressure) to operative procedures (e.g., tongue-lip adhesion, mandibular distraction osteogenesis or tracheostomy) [1,20]. However, their impact on weight gain has not yet been adequately studied or compared. ...
... Our treatment protocol, based on an interdisciplinary team of neonatologists, pediatric sleep specialists, neonatal nurses, speech therapists, orthodontists and craniomaxillofacial surgeons, has been described in detail before [20,21,23,25]. ...
... Additional information, e.g. the prenatal detection rate in routine ultrasound screening during pregnancy, incidence of feeding difficulties after discharge and compliance with using the TPP, would have been helpful in retrospect to identify other important factors related to growth. Also, some data from sub-samples have already been reported elsewhere [9,20,21,34], but all of these earlier reports covered only the first 3 months after discharge, none had its focus on weight gain, and the period covered as well as the number of patients included were less than half of what has been included in the present manuscript. ...
Background:
Children with Robin sequence (RS) are at risk of growth failure, mainly due to their increased work of breathing and feeding difficulties. Various conservative and surgical treatment approaches exist, but their impact on weight gain has not yet been adequately addressed. A functional treatment concept, used in our center for > 20 years, includes a pre-epiglottic baton plate (Tuebingen palatal plate) and intensive feeding training.
Objective:
To investigate the effect of the Tuebingen treatment protocol on growth and weight trajectories during infancy.
Methods:
This retrospective study analyzed longitudinal data from infants with isolated RS admitted to Tuebingen University Children's Hospital, Germany between 1998 and 2019. Through our electronic patient database, we evaluated anthropometric parameters until reaching 1-year follow-up. Results are shown as median (IQR).
Results:
In 307 infants analyzed, median Z-score for weight decreased from - 0.28 at birth to - 1.12 upon admission to our center at a median age of 22 days. Z-score then remained largely unchanged until discharge (Z-score difference, - 0.08), while the proportion of infants receiving tube feedings decreased from 55.1 to 13.7%. Z-score subsequently increased from - 1.17 at discharge to - 0.44 at the 1-year follow-up (p < 0.001).
Conclusion:
Based on a comparatively large cohort, this functional treatment was associated with better weight gain and improved feeding. As RS infants often show postnatal growth failure, weight monitoring may be a valuable parameter for monitoring treatment effectiveness. Clinical Trial Registration Not necessary due to the retrospective design.
... nasopharyngeal airway, tracheostomy or application of continuous positive airway pressure (CPAP). Mild cases are often treated by prone positioning, but this is fraught with an increased risk of sudden infant death syndrome [6]. In Germany, according to a recent survey [7], 37% of infants with RS are treated with a pre-epiglottic baton plate that is comparable to the Tuebingen Palatal Plate (TPP) and is a less invasive, yet effective and comparatively well studied alternative for patients with isolated [8][9][10][11] and syndromic RS [12]. ...
Background:
Robin sequence (RS) is characterized by mandibular micro- and retrognathia, glossoptosis, upper airway obstruction and optionally a cleft palate. With an incidence of 1:8000, it belongs to the so-called rare diseases; 30-50% of patients have RS as part of a syndrome. A comparatively well-studied treatment option is the Tuebingen Palatal Plate (TPP), which has proven effective in both, isolated and syndromic RS, but often requires multiple endoscopies for perfect fit and effectiveness. We report on a new method for fitting the TPP with only one session of nasopharyngeal endoscopy resulting in the plate being finished in one day.
Methods and results:
First, a prototype is produced, consisting of a traditional acrylic palatal part and a velar extension made of thermoplastic resin, usually measuring 10x40mm. Using polymerization, a scale is added to the posterior part of the extension to help with determining its optimal length during endoscopic evaluation. The extension is pre-bent in the dental laboratory to achieve an approximate shape. During endoscopy, the prototype can be adjusted to the infant's anatomy: first, the angulation is customized by controlled heating, bending and cooling of the thermoplastic spur. Second, the length of the spur is adapted by grinding its tip. Then the prototype is returned to the dental laboratory for completion; the final plate can be delivered to the patient on the same day. It acts by shifting the tongue into a more anterior position, thereby opening the airway and releasing upper airway obstruction, as well as by acting as a functional orthodontic appliance that stimulates mandibular growth through exerting pressure on the base of the tongue.
Conclusions:
With the thermoplastic spur presented here, a TPP can be produced within one day, requiring only one endoscopy. This approach may facilitate fabricating the TPP.
... Incidence data vary between 1:8500 and 1:14,000 [1,2]. There are different surgical and conservative treatment approaches to resolve retrognathia and UAO [3,4], and evidence for UAO to improve with age also using non-surgical treatment [5]. There is controversy, however, whether mandibular growth can be sufficiently promoted to result in disappearance of the maxillomandibular discrepancy seen in RS [6]. ...
Background:
Robin sequence (RS) is characterized by mandibular retrognathia, glossoptosis and upper airway obstruction. Whether mandibular catch-up growth may occur in RS is yet controversial. Our functional and less invasive treatment including the Tübingen Palatal Plate (TPP), early oral feeding and orofacial stimulation may promote mandibular catch-up growth. We evaluated the effect of the Tübingen Palatal Plate on mandibular growth, expressed by the Jaw index, sleep study results and weight gain in infants admitted with isolated and syndromic RS, born at or referred to our center between 6/2015 and 5/2018.
Methods:
Retrospective analysis of our electronic patient database that included data on jaw index measurements, sleep study results and standard deviation (Z-)scores for weight.
Results:
Of 31 patients referred for RS treatment (22 isolated, 9 syndromic), we had data on the above parameters, determined at admission, discharge and 3 months after discharge, in 20. Jaw index at admission and 3-month follow-up was 8.8 (6.3-11.3) and 2.1 (2.0-4.0), respectively (median (IQR); p < 0.0001). Mixed-obstructive apnea index (MOAI) decreased from 9.7 (4.8-24.2) to 0.0 (0-1.3; p < 0.002). No significant correlation was observed between MOAI and Jaw Index, but MOAI correlated with the Maxillary/Mandibular arch ratio (r = 0.58; p < 0.001). Z-scores for weight were similar at both time points at - 1.34 (- 1.76 - - 0.57) and - 1.50 (- 1.89 - - 0.54), while the proportion of infants requiring nasogastric tube feeding decreased from 84 to 8%. No infant had craniofacial surgery; one with syndromic RS required tracheostomy.
Conclusion:
These longitudinal cohort data suggest that the Tübingen Palatal Plate as used here may alleviate upper airway obstruction by promoting mandibular growth.
Trial registration:
N.A.
