QUAD #24: CHARGE Syndrome, Pulmonary Considerations with Dr. Cherie Torres-Silva

Global Cast MD, along with Cincinnati Children's Hospital, sharing knowledge to improve child health around the globe. Hi everyone. I'm M. Gody from Cincinnati Children's Hospital Medical Center. In October 2022, Cincinnati Children's hosted the quad conference, which was a combination of four conferences: The International Organization for Esophageal Atresia, the Aerodigestive Society Conference, the Cincinnati Children's Airway course, and the Cincinnati Children's Pediatric Dysphagia series. Today, we're going to talk about pulmonary considerations on Charge patients with Dr. Sheree Torra Silva, a pulmonologist at Cincinnati Children's. We'll start with a case. This is a 3-year-old that came to us, a baby girl with Charge syndrome, history of chronic wet cough, coughing spells. This would happen awake and asleep. Triggers will be recognized as oral intake, physical activity and sleep. Recurring pneumonias, more than 12 in her lifetime. Several ICU admissions and endotracheal intubation for 12 times due to acute respiratory failure. But at baseline, no positive pressure support was needed. The CT scan showed some significant affectation with consolidation and changes, especially on the right upper posterior lobe with some mild early bronchitectatic cylindrical changes, also in the more central lobes bilaterally. Initial airway evaluation included swallow study, and pulmonologist had normal vocal cord mobility, but there were abnormal swallow parameters with absent swallow onset. There was severe impairment in the management of oral secretions with penetration and silent aspiration. The first image is a part of a flexible bronchoscopy where you have the Charge syndrome looking arnoids tall and bulky, kind of heart-shaped and some larialasia. We had a normal subglotic area, but did had some significant increase on secretions in the central and peripheral airways. The ENT evaluation demonstrated what appeared to be a deep interid notch, but otherwise the patent subglotus. Then we went to look at the bronchoalveolar lavage, which showed signs of significant inflammation, elevated lipid laden macrophages of 30% and increased number of squamous cells. The patient had a chronic and an active infection that was both bacterial and fungal. We had evidence of ongoing chronic aspiration that appeared to be salivary and suspected to be reflux. Upper airway obstruction falling to the severe category with an AHI above 10, and comorbidities contributing to this chronic aspiration were identified as the deep interid notch, borderline with the type one cleft. Of course, the OSA. This patient had hypotonia with restrictive lung disease and low muscle tone. So airway clearance was somewhat compromised. And also she did have some abnormality in the right upper lobe bronchus. The takeoff was very cephalic and somewhat collapsed in the anterior posterior diameter, which we would expect to be contributing to mucus clearance limitation, one of the reasons why probably the right lobe was more affected. Let's talk about management. The difficulty with this patient is that you have aspiration, you have airway obstruction, you have airway clearance limitations, you have recurrent infections and sometimes whatever you do to fix one thing, mess the other one. In terms of upper airway obstruction, there's an increased risk of aspiration that patients that have obstructive sleep apnea and gastroesophageal reflux and she seemed to have both. And we have a correlation between how deep we're sleeping and the frequency of swallowing. So in deeper parts of sleep, we swallow less. So if you have a patient that by nature has swallowing dysfunction and pulling of secretions in the back of the throat, the moment the deeper sleep is when they're going to have more pulling of that secretion. In addition to that, it's in deeper sleep where they're going to have a higher number of events of obstruction. So you combine those two and you have a significant ongoing aspiration during sleep that is uh clinically presented by the coughing spells and awakenings during the night. So you have a patient with charge. In a previous video, we explored what charge syndrome is with Dr. Catherine Hart. To learn more, click the card on the screen to watch the video. Obstructive sleep apnea, aspiration, all those three are together, how do you manage? Five things that we address: Decrease aspiration, increase airway clearance, address the quality of aspirated material, control the ongoing inflammation, and that way also treat and prevent recurrent infections. And Dr. Catherine Hart, an ENT surgeon from Cincinnati Children's talked about decreasing aspiration in a separate video. Don't forget to check that one out. Link in the description below. Now, let's move on to number two: clearance of aspirated material. You have to identify comorbidities that are interfering or limiting airway clearance limitations. In this patient, it will be an acquired restrictive lung disease because of failure to thrive and hypotonia. Especially patients that have had thoracotomies or patients that developed progressive scoliosis, they will develop restrictive lung disease that clearly interferes with clearance of the airway. So, how do we improve airway clearance? You have the extra pulmonary percussive therapy, which is your vest, and we have the intra pulmonary percussive therapy. That will be IPV when you're in the hospital, through a mask or through the tracheostomy tube, or on slightly older kids, you can use the Acapella as you can see right here portable devices. Another thing we can do to improve clearance is thin out the secretions. So you can do the hypertonic saline or the dornase alpha, and we teach them to do half cough, and this is especially in the patients that have trick accumulation. By doing this type of cough, they actually mobilize secretions from the peripheral air base to the center. And then they find a way to clear it much easier. The number one thing I want you to take home is do not forget dental hygiene and dental decay. One of the things that has been proven beyond doubt is that dental decay is directly associated with increased frequency of respiratory infections in patients that have aspiration. These patients need to see the dentist and they need to have dental procedures when necessary. The other thing, which is somewhat controversial is the use of antacids, and this is because it's evident that acid reflux will be much more ubitative for these patients than non acid reflux. And what about medication? I have many younger babies with very significant changes in CT scan, significant recurrence of infections that I put on azithromycin and I have seen in first person in the last several years, there's a significant clinical improvement in this patient population. We learned from Dr. Torres Silva that not everybody does it, but she always get an EKG before she starts patients on long-term azithromycin. Because you know that there were some studies that showed that uh patients can have further prolongation of the QT interval on azithromycin. Here's a tricky part because of course, the more aggressive you are with antibiotics, the more likelihood you will contribute to the development of a very resistant flora, and then you're technically chasing your tail. So, there's a difference between pneumonitis, active asthma-like exacerbation versus an active infection. For the most part, I use my BAL or respiratory cultures to make decisions regarding antibiotic treatment as much as I can. That doesn't mean I'm going to delay antibiotics initiation, but I will definitely try to get a culture. The other thing mentioned is prophylactic long-term antibiotics. The more commonly used will be the inhale ones to decrease the systemic effects of antibiotics. Our to-go medication will be tocin inhale. Second line, you could use colistin, which you do not expect to have the same complications when you use IV. And I use 14 day cycles. And the reason is because many of my babies cannot be 28 days without the antibiotic. In summary, there are a few steps to manage charge patients from a pulmonologist standpoint. Focus on reducing aspiration, improving airway clearance through therapies like intra pulmonary percussion, thinning secretions and maintaining good dental hygiene to prevent respiratory infections. Medications like azithromycin and inhaled antibiotics like tocin are used for infection control. Although they must be managed carefully to avoid resistant bacteria. Thank you for watching this video. Don't forget to subscribe to the Stay Current MD YouTube channel. Follow our social media channels and download the Stay Current MD app for tons of content in pediatric surgery. Global Cast MD, along with Cincinnati Children's Hospital, sharing knowledge to improve child health around the globe.