ENT Masthead
August 2013

  In This Issue 

Contemporary Management of Infants with Pierre Robin Sequence
About Dr. Discolo

  Upcoming E-Updates 

September:
Robotic Surgery and Oropharyngeal Cancer

October:
Environmental Control Measures for House Dust Mite Allergy. What is the Evidence?

November:
Hypoglossal Nerve Stimulation for Sleep Apnea  

  E-Updates  Archives 

Our E-Update Newsletters are designed to provide brief, practical, clinical updates in areas where we all struggle in managing our patients. To view past issues, please visit our Archives.

  Quick Links  

  Continuing Education

October 2013 
Charleston Swallowing Conference

Head & Neck Oncology Sea to Summit


February 2014 
Charleston Sleep Surgery Symposium

 

March 2014 
Pediatric ENT Update

Sinus Masters

 

April 2014 
Temporal Bone Dissection Course

 

May 2014 
Southern States Rhinology Course

Charleston Magnolia Conference

July 2014 
The Charleston Course: Otolaryngology Literature Update 
 
 

 

For program brochure, registration form, and more, please visit
our website.

We want to hear from you!

We welcome your  feedback - answers, questions, input - on our newsletter articles as well as any ENT questions you may have. If there are topics you are interested in learning more about, please
Join Our Mailing List
Changing
What's
Possible

Dear Colleague,     

 

In the August ENT E-Update, MUSC's Pediatric Otolaryngologist Christopher M. Discolo, MD discusses Pierre Robin Sequence in infants - evaluation, diagnosis, and medical and surgical treatment. You can read more about Dr. Discolo and the services he provides below and on our website.

Many thanks to all who joined us at Kiawah last month for The Charleston Course, our 3rd Annual Otolaryngology Literature Update. It was a great turn out with many who plan to return in 2014!

I also want to announce that you can now access any of the past ENT E-Update issues online through our Archives. We hope this will serve as a useful information resource for your practice.

 

Please feel free to contact us with feedback or questions about the E-Udate articles, your patients, or any other ENT issue at [email protected].

 

 

Paul R. Lambert, MD

Professor and Chair

Christopher M. Discolo, M.D., MSCR
Medical Director, Craniofacial Anomalies & Cleft Palate Team Medical University of South Carolina
Contemporary Management of Infants with Pierre Robin Sequence

Pierre Robin Sequence (PRS) was initially described in 1923 and consisted of the triad of micrognathia, glossoptosis and resultant airway obstruction. More recently the finding of a cleft of the secondary palate has made its way into the definition of PRS that many clinicians use. Although certainly a common finding in PRS, it is still debated whether or not cleft palate should be part of the diagnostic criteria. Because of this heterogeneity in the definition of PRS, a true incidence of the condition is difficult to accurately assess. Estimates range from 1 in 8500 to 1 in 20,000 live births.  

 

The primary event that leads to PRS remains incompletely understood. The most widely accepted theory is that micrognathia causes upward and posterior displacement of the tongue. When this occurs early enough in gestation, the palatal shelves are unable to close resulting in the characteristic wide "U"-shaped cleft of the secondary palate. Often the intraoral exam of a newborn with PRS reveals the oral tongue to be actually displaced into the cleft itself. Seeing this vertical and posterior displacement of the tongue, it is easy to appreciate the significant airway obstruction that can result.

 

Genetics and PRS

Children born with PRS have been classically divided into syndromic versus isolated PRS. Unfortunately, the wide range of expression of this condition has made this nomenclature less helpful when it comes to prognosis and subsequent treatment recommendations. Early on, an accurate assessment of the airway and feeding status of the infant is critical to the care of these children.

  

It is estimated that more than half of all children with PRS will have an associated syndrome, chromosomal anomaly or other congenital defect. A genetic evaluation should be considered for all children with PRS, especially those in whom a genetic diagnosis is suspected. The two most common syndromes associated with PRS are Stickler syndrome and 22q11.2 deletion syndrome (Velocardiofacial syndrome, DiGeorge syndrome). Stickler syndrome, which can affect up to 18% of PRS patients, is a connective tissue disorder that manifests in several organ systems. Stickler syndrome is a leading cause of vision loss and blindness in children; often secondary to retinal detachment. Because of this, it is recommended that children with PRS undergo early Ophthalmology evaluation, usually within the first 6 - 12 months of life.  

 

Management of Infants with PRS

Mandibular 'catch-up' growth has been well documented in the literature and clinical studies have shown resolution of airway obstruction and feeding difficulties with time in many children with PRS. Because of this, conservative management is universally recommended as a first line treatment if possible.

 

The overall management of an infant with PRS involves determining the exact site(s) of airway obstruction. Ideally this should be carried out prior to any interventions. Bedside flexible fiberoptic examination can reveal tongue base obstruction but may also show other potential sources of obstruction such as laryngomalacia or vocal fold immobility which may impact treatment recommendations. Formal airway evaluation under anesthesia is generally necessary to evaluate the subglottis and trachea for evidence of synchronous airway lesions. Jaw thrust maneuver under anesthesia is felt by many to predict outcomes of tongue or mandible advancement procedures.  

 

Many infants with PRS will experience feeding difficulties and will often require temporary nasogastric supplementation. An experienced Speech and Language Pathologist is critical in the early assessment of these children. In our opinion, correct use of a cleft feeder as well as teaching caregivers how to properly feed these infants is critical to establish successful oral feedings. Often the tongue position prevents the child from effectively nursing. Simple techniques to teach caregivers how to adjust to this problem can improve feedings. Despite this, many children with significant upper airway obstruction will simply be unable to orally feed well. Recent evidence has suggested that correction of the airway obstruction can obviate the need for formal gastrostomy tube placement in many of these children.


Prone positioning has been the mainstay of conservative treatment for many years. This allows the tongue and mandible to fall forward and out of a more obstructing position. It is estimated that more than half of all children with PRS can be managed with positioning alone. Even if a child initially responds to this treatment, it is critical to closely monitor them over the next several weeks. Children who initially do well with prone positioning may develop progressive airway obstruction over the first few weeks of life. This may be very clinically apparent however measuring blood carbon dioxide levels can give an objective indication of worsening airway obstruction.

 

When positioning alone fails, placement of a nasopharyngeal airway can be successful in relieving base of tongue obstruction. This can be done at the bedside without anesthesia. Not only is the infant able to breathe through the tube itself, but it likely also helps break the seal of the tongue base against the posterior pharyngeal wall allowing them to breathe via the other nostril as well. As the infant larynx is located so superiorly, it is recommended that this airway be placed under endoscopic guidance. The tip of the tube should be just beyond the area of glossoptosis without being intra-laryngeal. Placing the scope either through the tube or via the other nostril allows for direct visualization of placement. The tube should then be cut to the appropriate length and secured to the patient. I prefer using modified endotracheal tubes (instead of traditional nasal trumpets) and attach them by placing a safety pin through the tube where it enters the nostril. Tape can then be applied to the ends of the safety pin and then secured to the infant's face. The safety pin prevents distal migration of the tube. Often, saline drops are required to prevent the tube from becoming clogged with secretions. Families can learn to remove and change these tubes at home. Long term outpatient management with nasopharyngeal tubes is practiced as several centers around the U.S. and abroad.

 

Surgery for PRS

In infants where airway obstruction persists despite conservative measures, surgery is indicated. As described above, complete airway evaluation is needed in order to determine which surgical treatments would be most efficacious for any particular patient. Surgical options vary from institution to institution.   

 

Tracheotomy was long considered the definitive treatment for children with persistent upper airway obstruction. Although still considered first line treatment for PRS at some centers, its popularity has waned some in recent years given the rise of alternative procedures. For children with multi-level airway obstruction or significant lower airway disease, tracheotomy remains the procedure of choice. A recent study suggested that children with PRS may take longer than expected to achieve 'natural' decannulation compared to children who receive tracheotomy for other reasons. This seemed especially true in children identified as having syndromic PRS.

 

Tongue-lip adhesion seeks to relieve upper airway obstruction (and feeding difficulty) by advancing the tongue forward. This is done by suturing the anterior ventral tongue to the lower lip. Very often the posterior tongue is anchored to the mandible as well to further stabilize the movement. Advantages of this surgery are that it is a relatively simple procedure that is quick to perform and is reversible. Dehiscence has been a problem cited in many papers on this topic. The adhesion remains in place for several months while mandibular growth is taking place. There remains some controversy about the feeding outcomes after tongue-lip adhesion. Some have documented a high rate of gastrostomy tube placement following this procedure likely secondary to altered tongue mobility from the pexy. Other centers have reported improved weight gain and feeding outcomes. At some institutions, tongue-lip adhesion is the initial surgical procedure that is recommended once conservative measures fail.  

 

Figure 1: Intraoperative view showing significant micrognathia. After exposure via a transcervical approach, the osteotomy site is marked just anterior to the angle of the mandible. 

In recent years, mandibular distraction osteogenesis (MDO) has gained popularity in the management of PRS (Figure 1). The basic principle of MDO is that new bone can be formed across an osteotomy site by slowly separating the bone in a controlled manner. Distractors can be either internal or external depending on surgeon preference. In general, external devices allow for greater range of movement along multiple vectors and are easier to remove once the procedure is complete. They may be associated with increased facial scarring secondary to the small K-wires that are drilled transcutaneously to attach the device to the mandible. Internal devices may be associated with less scarring but require a more complicated surgery to remove them from the mandible once distraction is complete. Following a brief latency period after the surgery, the devices are activated and the mandible is slowly advanced. Our protocol involves twice daily activations totaling 1.5mm/day. Once the micrognathia is corrected, the devices are locked down and a consolidation phase, lasting approximately 5 weeks, begins. This allows new bone to regenerate within the gap created during the advancement. Complications of distraction surgery include infection, device failure, facial nerve injury, injury to molar tooth buds and facial scarring.

 

Multiple reports in the literature have documented relief of upper airway obstruction using MDO, obviating the need to place a tracheotomy or allowing tracheotomy dependent children to be decannulated. Recent studies have also demonstrated improvements in feeding following MDO in children without other significant comorbidities.

 

Conclusion

Infants with PRS represent a particularly challenging population. Significant airway obstruction, which can be life threatening, is often associated with inability to adequately feed orally. Although many children will respond to conservative measures, some will ultimately require surgical intervention. An experienced Speech and Language Pathologist, in addition to other pediatric specialists (genetics, pulmonology, etc.), is critical to the overall management of these children. In children who fail medical management, extensive counseling of families is required to discuss the various surgical options that are available.

 

Christopher M. Discolo, M.D., MSCR
Medical Director, Craniofacial Anomalies & Cleft Palate Team 
Medical University of South Carolina 
About Dr. Discolo... 
  Christopher M. Discolo, MD

Christopher M. Discolo, M.D., MSCR

- Assistant Professor
- Medical Director, Craniofacial
Anomalies & Cleft Palate Team
M.D.: State University of New York
MSCR: Medical University of South Carolina
Residency: The Cleveland Clinic

Fellowship: University of Minnesota

Special interests: Pediatric otolaryngology, craniofacial syndromes, complex airway/swallowing disease, hearing loss


Medical University of South Carolina Department of Otolaryngology - Head & Neck Surgery

135 Rutledge Avenue, MSC 550, Charleston, SC 29425|Phone: 843.792.8299|Website: ENT.musc.edu|� 2013