Let me start by admitting that this post is partially just a theory on my part. So, let me start out by separating what we know from what I thank might be the case. Here is what we know:
• Many individuals with MECP2 duplication suffer from frequent, prolonged, and often severe bouts of pneumonia.
• Many of these same individuals have dysphagia (swallowing difficulties) including increased risk of food or fluid particles entering the airway.
• In at least some cases, food and fluid entering the lungs causes or contributes to these bouts of pneumonia.
• Many individuals with MECP2 duplication experience gastroesophageal reflux.
• Gastroesophageal reflux can also cause or contribute to aspiration pneumonia.
Now, here is my theory: While the issue of dysphagia (swallowing problems) has been the focus of managing aspiration pneumonia in individuals with MECP2 duplication syndrome, gastroesophageal reflux may be responsible for as much or more of this problem.
To be clear, I am NOT saying that swallowing problems are unimportant in managing aspiration in children and adults with MECP2 duplication syndrome. I am simply saying that we may be missing a second equally (or perhaps even more) important problem by focusing too heavily on the swallowing issue.
Why is it important to confirm or disprove this theory? There are two reasons. First, if this is true, ruling out dysphagia does not rule out aspiration problems. Second, if this is true managing dysphagia may produce no improvement or limited improvement of aspiration problems if reflux aspiration remains unaddressed. In some cases, it might even make the problem worse. In 1988, Hassett and colleagues reported that in neurologically impaired patients who experienced aspiration gastrostomy did not eliminate aspiration. In addition, they reported that among those without presurgical evidence of aspiration, aspiration problems actually started after gastrostomy in some cases.
Studies have shown that GERD (Gastroesophageal Reflux Disease) plays a major role in the respiratory symptoms of many individuals diagnosed asthma, and in many cases symptoms of difficult to treat asthma improved significantly when GERD was controlled.
For example in a 2009 review article Gaude pointed out:
Severe pulmonary complications of GERD, usually resulting from pulmonary aspiration, often occur in children with neurological diseases and/or debilitating underlying medical conditions. However, even in children without neurological defects, there is a significant association between GERD and pneumonia and bronchiectasis.
…And back in 1981, Berquist and colleagues reported that gastroesophageal reflux was a major treatable cause of recurrent pneumonia in 82 cases that they investigated:
Forty of 82 patients with recurrent pneumonias and/or clinical asthma were found to have gastroesophageal reflux (GER) by the criteria of two or more of five tests positive for GER. Of 36 patients with GER followed for response to therapy, 32 patients attempted medical therapy and four had fundoplications. Ten of 32 (31%) patients on medical therapy had improvement in symptoms but none became asymptomatic. Twenty patients who failed a trial of medical therapy also had fundoplications for a total of 24 patients surgically treated. Of these, 22 (92%) had improvement or became asymptomatic. All seven patients with diagnosed GER and recurrent pneumonias responded to medical antireflux management or fundoplication. GER is an important treatable cause of recurrent pneumonias and/or chronic asthma in children.
With improvements in drug treatment since the 1980s, one might expect even better results today.
Numerous studies have shown that chronic pulmonary symptoms usually associated with asthma or other respiratory conditions are frequently substantially improved by treatments with medications (principally proton pump inhibitors) or Nissen fundoplication surgery.
Proton pump inhibitors have two important effects. First, they reduce the acidity of the gastric contents, and secondly by reducing gastric secretions, they lessen the volume of gastric contents. By reducing the volume, they lessen the likelihood of reflux and potentially the volume of reflux. By reducing the acidity, they can reduce the damage done if any reflux enters the airway. However, one potential disadvantage is that stomach acid has a powerful antibacterial effect that may be lessened when the acidity is reduced.
Considering the potential role of GERD in aspiration is essential in making decisions about oral versus G-tube feeding. If GERD is playing a significant role in aspiration, switching from oral to G-tube feedings may have little benefit unless fundoplication surgery is also undertaken. In some cases, aspiration problems may even increase with G-tube feedings if reflux is not also managed.
Positioning during feeding and after meals can also play a role in preventing reflux aspiration both with oral and gastrostomy feedings. An upright position can help many children avoid aspiration.
While feeding and swallowing studies are useful in assessing the risk of aspiration hat occurs upon swallowing, these assessments should never be considered to be complete without assessing the reflux aspiration in children or adults with MECP2 duplication syndrome. Decisions regarding G-tube surgery and whether or not to also carry out fundoplication need to be made in consideration of the possibility of reflux aspiration.
Furthermore, even if there is little risk of aspiration during swallowing, there may still be an aspiration problem related to reflux that may be addressed by proper positioning and GERD medications. In addition, future research is needed to determine to what extent reflux aspiration plays a role in pulmonary problems including pneumonia in individuals with MECP2 duplication syndrome.
It is important to remember that swallowing aspiration and reflux aspiration are not mutually exclusive. Either one can contribute to airway and lung problems, but it is often the case that both occur for individuals with MECP2 duplication and each plays a role along with other factors (e.g., weak immune system response to infection, depressed cough reflex) common in these individuals.
In my opinion, these are the basic implications…
(1) Assessment of individuals with MECP2 duplication syndrome who show signs of aspiration, reflux, or recurrent pneumonia should include both assessment or swallowing AND reflux aspiration.
(2) Consideration of g-tube placement for feedings should also consider fundoplication or other methods to manage reflux.
These issues are matters for the healthcare team to make along with families and each patient needs to be considered as an individual. Nevertheless, these are often challenging issues for healthcare providers to address in the consultation model that dominates modern medicine, since the team that addresses swallowing may not be fully integrated with the services that assess reflux.
Berquist, W.E. et al. (1981). Gastroesophageal Reflux-Associated Recurrent Pneumonia and Chronic Asthma in Children. Pediatrics. 68(1).
Gaude, G.S.(2009). Pulmonary manifestations of gastroesophageal reflux disease. Annals of Thoracic Medicine. 4(3): 115–123. doi: 10.4103/1817-1737.53347
Hassett, j.M. et al. (1988). No elimination of aspiration pneumonia in neurologically disabled patients with feeding gastrostomy. Surgery, Gynecology & Obstetrics, 167(5),383-388
Lee, J.S. et al. (2010). Does Chronic Microaspiration Cause Idiopathic Pulmonary Fibrosis? American Journal of Medicine. 123(4): 304–311. doi: 10.1016/j.amjmed.2009.07.033