Previously known as the Pierre Robin syndrome, Robin Sequence (RS) affects one in 8,500 live human births [
Infants with RS present a challenge to pediatricians and other specialists because of their increased risk of airway obstruction and resultant hypoxia, cor pulmonale, failure to thrive, and cerebral impairment. As the infants grow, airway obstruction improves as the mandible grows and the coordination of the parapharyngeal muscles improves in conjunction with voluntary tongue control [
One of the current treatment strategies, the NPI procedure, helps the tongue to move forward, freeing the airway and allowing the child to breathe through the nasopharyngeal tube. Previous studies report having used NPI to relieve airway obstruction successfully in RS infants [
In 2003, the Hospital for Craniofacial Anomalies of the University of São Paulo (HRAC-USP) established a new RS treatment protocol replacing glossopexy with NPI for the treatment of severe cases of children with RS. Over the years, the HRAC-USP has gained a large experience with NPI management of RS [
Two hundred and twenty-three infants with RS were admitted to the HRAC-USP from July 2003 to June 2010. The infants were diagnosed as mild, moderate, or severe cases through objective airway assessment carried out using continuous oxygen saturation and through clinical observation by experienced staff. Severe cases presented recurrent crises of pallor and/or cyanosis and/or apnea, intercostal and supraclavicular retractions, oxygen saturation < 90% measured by continuous pulse oximetry with an oxygen requirement to improve this condition, and severe feeding difficulties for which feeding tubes were necessary. Mild cases had little respiratory difficulty without intercostal retraction or retraction of the furcula, O2 saturation measured by continuous pulse oximetry equal to or higher than 90.0%, and few feeding difficulties (feeding exclusively by the oral route); moderate cases had intercostal retraction or retraction of the furcula without cyanosis, apnea, or pallor, satO2 greater than 90.0%, and important feeding difficulties (feeding by a nasogastric tube) [
Nasopharyngoscopy was performed in all children during the first days of hospitalization and the type of respiratory obstruction was classified according to Sher et al. [
All exams were performed by the same professional, a plastic surgeon with extensive experience in nasopharyngoscopy, and nasopharyngoscopy took place in the operating theater, in a room appropriate for this purpose. The infants were examined in horizontal dorsal decubitus without head flexion, awake, and without any type of sedation. An Olympus nasopharyngoscope (Tokyo, Japan) for infants with an INF P3 fiber (OTV-SC video camera system with a DSR 20 MD digital videocassette) was introduced through the right nostril with topical lidocaine chlorohydrate 2% (gel). All evaluations were performed by the same professional.
NPI was performed in infants with type 1 and 2 respiratory obstructions who displayed severe respiratory symptoms. NPI consists of a whitish Portex silicone tube of 3.0–3.5 cm that is introduced 7 to 8 cm into the nostril, cut 1 cm out of the nostril, and fixed with micropore tape. The tube is placed just above the epiglottis to allow the air to flow through it (Figure
Nasopharyngeal intubation. (a) The Portex silicone tube and tape for marking the tube; (b) tube marked with a tape at the 7.5 cm level for positioning of the tube 7.5 cm inside and 1 cm outside the nostril; (c) the 5 cm micropore, partially divided in half; (d) the micropore tape fixed on the tube through divided parts; (e) the tube ready for introduction into the nostril; (f) the tube being introduced into the nostril; (g) a view of a tube through the cleft palate; (h) infant with PRS and nasopharyngeal intubation.
Improvement of respiratory discomfort with NPI was considered to have occurred when O2 saturation, measured by continuous pulse oximetry, was maintained above 90% in ambient air (with no oxygen requirement) during 24 hours; when the respiratory effort was reduced (reduction of pallor and cyanosis crises, of intercostal and furcula retraction, and of inspiratory noise characteristic of glossoptosis observed by pulmonary auscultation); when it was possible to stimulate oral feeding and the child became comfortable with NPI, without accumulation of secretions and saliva in the oral and/or nasal cavity and/or in the tube for NPI. After the infant’s respiratory discomfort had improved the parents were trained to manage NPI. Patients are only discharged after a period of monitoring with the NPI in situ and when clinical staff was sure of caretakers competence.
After discharge from the hospital, return visits to the hospital were scheduled every 15 days during its continuous use. At each return the infant was hospitalized for 24 hours for observation, and the definitive removal of NPI was performed only when, in the absence of the NPI, O2 saturation remained above 90% in ambient air for 24 hours with no onset or worsening of respiratory discomfort. Otherwise, NPI was maintained until reevaluation on subsequent return visits.
Clinical observations and assessment were performed by multidisciplinary staff (nurses, pediatricians).
After decannulation, children are followed up at three-month intervals until the end of the first year of life.
Children with types 1 or 2 who did not improve with NPI were submitted to tracheostomy. Because types 3 and 4 are not considered RS but Robin complex (as the tongue is not the cause of respiratory obstruction), all children diagnosed as these types and with severe symptoms were submitted to tracheostomy to release the airways due to the severity of the respiratory obstruction [
All children were submitted to feeding facilitating techniques (FFTs) to improve oral feeding [
Children were considered ready for exclusively oral feeding when they were able to ingest 70% of the milk volume recommended for their age, in less than 30 minutes, without choking and/or a reduction in oxygen saturation.
This study was approved by the Research Ethics Committee of HRAC-USP (SVAPEPE-CEP number 265/2011). All patients’ parents or legal guardians signed a written informed consent.
One hundred seven infants, 52 boys (48.6%) and 55 girls (51.4%), were followed up during the first year of life. Mean age at the time of referral was 31.7 +/− 29 days (ranging from one day to five months). Most patients (62/107) were younger than one month of age at referral. Seventy-eight children (73%) presented IRS and 29 (27%) presented SRS (Table
Frequency of syndromes.
Syndrome |
|
% |
---|---|---|
IRS |
|
|
SRS | ||
Undefined syndrome | 12 | 11.21 |
Stickler syndrome | 9 | 8.41 |
Treacher Collins syndrome | 4 | 3.70 |
Oculoauriculovertebral spectrum | 1 | 0.92 |
Facial femoral syndrome | 1 | 0.92 |
Otospondylomegaepiphyseal dysplasia |
1 | 0.92 |
Otopalatodigital syndrome | 1 | 0.92 |
|
||
Total | 107 | 100.00 |
IRS: Isolated Robin Sequence.
SRS: Syndromic Robin Sequence.
All infants presented severe symptoms at the time of admission, and 56 infants (52%) were admitted to the intensive care unit. Ninety-five (89%) infants presented upper airway obstruction type 1 and two infants (11%) presented type 2 obstruction (Table
Type of respiratory obstruction in Isolated Robin Sequence and Syndromic Robin Sequence.
Syndrome | Type of respiratory obstruction | |||||
---|---|---|---|---|---|---|
1 | 2 | Total | ||||
|
% |
|
% |
|
% | |
IRS | 71 | 91 | 7 | 9 | 78 | 100 |
SRS | 24 | 83 | 5 | 7 | 29 | 100 |
|
||||||
Total | 95 | 89 | 12 | 11 | 107 | 100 |
IRS: Isolated Robin Sequence.
SRS: Syndromic Robin Sequence.
The mean time of NPI use was 57.4 +/− 37.6 days (ranging from 1 to 173, median 54) and the mean hospitalization time for children treated with NPI was 18 days (ranging from 2 to 57, median 16). All patients were followed up until the NPI was no longer required and there were no nasal injuries, no untoward incidences at home, and no problems related to the use of NPI.
Most patients had cleft palate (104/107). All infants presented feeding difficulties; 91 infants (85%) were fed orally and gastrostomy was performed in 16 infants (15%). Gastrostomy was more frequent in infants with SRS (31%) than with IRS (9%) (Table
Gastrostomy in Isolated Robin Sequence and Syndromic Robin Sequence.
Syndrome | Gastrostomy | |||||
---|---|---|---|---|---|---|
Yes | No | Total | ||||
|
% |
|
% |
|
% | |
IRS | 7 | 9 | 71 | 91 | 78 | 100 |
SRS | 9 | 31 | 20 | 69 | 29 | 100 |
|
||||||
Total | 16 | 15 | 91 | 85 | 107 | 100 |
IRS: Isolated Robin Sequence.
SRS: Syndromic Robin Sequence.
The most frequent complication was pneumonia. Morbidity was 14% and no deaths occurred (Table
Morbidity rate in severe Robin Sequence managed with nasopharyngeal intubation during the first year of life.
Morbidity | IRS ( |
SRS ( |
---|---|---|
Pneumonia | 4 | 4 |
Bronchoaspiration | 1 | 2 |
Apnea | 1 | |
Bronchospasm | 1 | |
Gastrostomy other complications | 1 | |
Digestive hemorrhage | 1 | |
|
||
Total | 7 (8.97%) | 8 (27.58%) |
IRS: Isolated Robin Sequence.
SRS: Syndromic Robin Sequence.
RS is a combination of micrognathia and glossoptosis that occurs with or without cleft palate [
The HRAC-USP is one of the few reference centers for cleft lip and palate in Brazil. Patients, mainly severe cases, come from distant hospitals from all over the country that lack specialized knowledge or adequate infrastructure to treat RS, which explains the high rate of severe cases and a wide age range of the patients treated at the HRAC-USP. Ideally, patients should be admitted to the HRAC-USP soon after birth, but, unfortunately, this does not usually happen in Brazil. However, in this study, most patients (62/107) were less than one month old at the time of their admission to the HRAC-USP.
The main clinical problems in RS infants are upper airway obstruction and feeding difficulties. Symptoms are highly heterogeneous, ranging from mild respiratory distress to severe asphyxia crises which become more frequent and more severe during the first months of life [
There have been many reports on different strategies to manage airway obstruction in patients with RS, but no consensus has been reached so far. Since the obstruction occurs at the base of the tongue, the treatments aim to move the tongue base forward, away from the airway. Interventions include prone positioning, NPI, glossopexy, tracheostomy, and osteogenesis mandibular distraction osteogenesis [
NPI has been used to relieve airway obstruction in patients with RS for over 25 years [
Most infants (104/107) had cleft palate and all infants presented feeding difficulties. Generally, respiratory obstruction in infants with RS leads to difficulties in the coordination of suction and of swallowing and glossoptosis impairs anteriorization of the tongue which is necessary in order to obtain adequate suction. In addition, cleft palate creates a deficit in the negative intraoral pressure necessary to efficient suction, as well as inducing nasal reflux of food [
The natural history of patients with RS is an improvement with growth, for both the airway obstruction and feeding difficulties. Along with growth, airway obstruction improves as the mandibular growth and the coordination of the parapharyngeal muscles improves in conjunction with voluntary tongue control. The NPI improves breathing, allowing natural growth and resolution of airway obstruction without unnecessary surgical intervention.
The most relevant contribution of the present study is to present the NPI management protocol for children with RS adopted by the HRCA-USP, which was developed after extensive experience with these patients, and the fact that our results were obtained from a large number of patients from a single center. Indeed, NPI was the definitive treatment performed in all of the 107 infants studied here, corresponding to 48% of all patients with RS admitted to the HRAC-USP during the period studied. The children studied presented low morbidity and only 14% of them presented clinical complications in the first year of life. The main complication detected was pneumonia. Pulmonary complications and aspiration are the most severe and frequent complications of RS, generally due to deglutition disorders. The reported mortality varies from 2.6 to 30% [
We did not perform polysomnography (PSG), a sophisticated method to assess respiratory patterns and detect differences among infants not identified by oxygen saturation monitoring. The use of PSG could have improved the diagnostic accuracy in assessing the severity of upper airway obstruction (UAO). However, objective airway assessments using continuous oxygen saturation monitoring and clinical evaluation make the pediatric practice at the HRAC-USP and have been shown to be sufficient to diagnose the severity of airway obstruction and to detect clinical improvement [
The HRAC-USP does not perform mandibular distraction osteogenesis during the neonatal period for the treatment of RS respiratory obstruction. Various studies have reported that mandibular distraction may avoid tracheostomy [
By studying a large series of infants with RS managed in a single center, we showed that NPI can be used to successfully treat these patients. The management of RS patients with NPI at the HRAC-USP involved a multidisciplinary and experienced team that was able to achieve a safe airway relief, low morbidity, and zero mortality rates for the infants treated.
NPI is an effective method for improving breathing and feeding in infants with RS and preventing surgical procedures in early infancy. The children treated with the NPI treatment protocol adopted at the HRAC-USP required a short hospitalization time and presented low morbidity and zero mortality during the first year of life.
The authors declare that there is no conflict of interests regarding the publication of this paper.