Problem-Solving: 2 -year-old with Pierre Robin Syndrome

Question: I have a complex case I have been following since her time at our NICU. She is 2 years old, and I just completed a repeat VFSS (outpatient, her seventh to date) which continues to show significant dysphagia with high aspiration and airway obstruction risk.

History is significant for Pierre Robin sequence (chromosome deletions at 10q11 and 20p12) and cleft palate. She was born full term but required intubation after birth for critical airway. She required mandibular distraction hardware placement for about 2 months, has required supplemental nutrition by means of a feeding tube since birth (has had a PEG for over a year), and had a bilateral palatoplasty around 18 months of age. She’s been followed by feeding therapy, but despite recommendations for NPO because of her significant risks, she really wants to eat and drink. She pulls food off of the table from her siblings’ plates and has been eating/drinking regular/thin without specific correlation to any respiratory compromise.

I wish I could insert a fluoro clip here as I think it will be hard to spell this out… her swallow is significantly uncoordinated. With all consistencies the bolus reaches the pyriforms and at the onset of her “swallow” she presents with immediate regurgitation to the oral cavity and nasopharynx. No barium enters the esophagus with the initial swallow, it almost appears that the timing of UES relaxation follows tongue base retraction after the majority of contents have been redirected from the hypopharynx. This sequence is repeated 18 times prior to what appears to be a complete swallow, during which the contents that weren’t incidentally passed through the UES are cleared through the pharynx. Laryngeal penetration and aspiration at the height of the swallow occur during most of the uncoordinated “swallows” (which is silent). The pattern is the same with all consistencies and is paired with an open mouth posture. When provided with tactile cueing to keep her lips closed, she appears to have the coordination/pressures needed to clear small boluses with single swallows, but her adaptations seem to drive the motor planning train at this point. I ethically could not proceed with solid foods even though mom called two months ago to ask if we could ‘try solids no matter what’ during the study… they had hot dogs for dinner last night and brought pieces of hot dog to the study today. I have no explanation for how a choking event did not happen.

My heart really goes out to this family; they need a lot of guidance, and it has been a journey for them. Our oral maxillofacial surgeon and gastroenterologist have agreed to have a sit-down care conference with the family which I am extremely grateful for… my question is in regard to where to go from here. I think she needs intensive feeding therapy at this point and the clinics that I am most familiar with in our area are behaviorally driven to help kids wean from tube feedings… but she is a special case in which she really wants to eat and drink but is not safe to do so… does anyone have any specific cleft palate clinics that they have worked with? Mom is very open to this and was very open to me posting the patient’s case here to get some ideas for them.

Superior based pharyngeal flap surgery is in the discussion, but until her adaptive “swallows” are not the driving force of her function, I don’t see how she will safely manage as I think her ability to redirect boluses into her nasopharynx are her saving grace (as strange as that sounds).

Any and all help/insight is appreciated.


Answer: The infants and children we see never cease to amaze me with their adaptive behavior to accomplish a task in the face of such challenges. Bonnie Martin Harris always reinforces the dynamic nature of the swallow pathway, and how alterations in one point along that pathway can create compensatory behaviors along the pathway that may not always be beneficial but may indeed be maladaptive behaviors. What is the source of the alteration versus the compensatory behavior always needs to be sorted out, and you have done that so very well!

I have had three children with similar clinical and videofluoroscopic presentations. They each had mandibular hypoplasia, only one had the benefit of mandibular distraction. The impact of mandibular hypoplasia on motor learning in utero is not always fully appreciated. Early on, it creates muscular and structural restrictions to base of tongue integrity (decreased ROM, decreased posterior prolusion, decreased BOT retraction for the dynamic swallow). The fetus swallows amniotic fluid from 17 weeks on, and so by birth at term, has had 23 weeks of motor learning to help build the motor maps that underpin the swallow. Mandibular hypoplasia leads to reduced oral cavity space, this displaces the tongue body, leads to an altered tongue position, typically retracted back into the oral cavity and often with some form of glossoptosis; it also can create muscle shortening that will impede full ROM for the necessary base of tongue retraction. Even post MDO (Mandibular Distraction Osteogenesis), many infants continue to show reduced BOT retraction on VFSS for this reason. That’s why MDO is not a “fix all” for Pierre Robin sequence or mandibular hypoplasia, with its attendant alterations in muscular function, though MDO is unfortunately viewed as such by some medical professionals (i.e., “the infant was distracted, why doesn’t he eat?”). The co-occurring open mouth posture likely adversely affects an anterior seal on the bolus, which, along with reduced BOT retraction, acts as another impediment to generating the pressure required to relax and open the UES. The resistance to bolus flow causes the bolus to take the path of least resistance. The need to establish the more typical motor plan in order to habilitate (or maybe even rehabilitate at this point despite her young age) feeding skills is important.

Working on an anterior seal (lots of fun ways to do that at her age) and pressure generation with smaller boluses would be helpful. I wonder if a short repeat study to objectify optimal viscosity/viscosities for pressure generation might be informative, and like a short biofeedback for her, if she is cognitively appropriate, and perhaps to objectify the impact of optimal cueing strategies, utensils and neuromotor facilitation provided. Pharyngeal manometry to better objectify the role of pharyngeal pressure generation in bolus flow.

I so appreciate your critical thinking and living in the gray zone as I like to call it; where you are ok with pausing to think of possibilities, weighing them and asking more questions, instead of rushing to an answer. I’d be happy to work alongside each of you anytime.

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