Ed. Note: This article is the first in a seven-part series on emerging technology and treatments that are changing the landscape for otolaryngologists in different specialty areas.
Within 10 years, surgical treatment of children with congenital lymphatic malformations of the head and neck may be rare. Pediatric otolaryngologists may routinely refer families to food pantries and early intervention programs, and physicians subcertified in complex pediatric otolaryngology will perform surgeries on medically complex children with common otolaryngologic disorders—perhaps via transoral robotic surgery.
The field of pediatric otolaryngology has come a long way since the late 1800s, when Burton Alexander Randall of the Children’s Hospital of Philadelphia and Samuel Langmaid of Boston Children’s Hospital publicly recognized the need for pediatric-focused otolaryngologists. The American Society of Pediatric Otolaryngology was founded in 1985, and in the generation since, pediatric otolaryngologists have made significant strides in the diagnosis and treatment of childhood hearing loss, sleep-related breathing disorders, and rhinosinusitis, among other things.
Here’s a look at some of the latest developments in pediatric otolaryngology.
Genetic Testing Leads to Targeted Therapy
Genetic testing revolutionized the management of childhood deafness, emerging as “the most important first diagnostic test to order in the new evaluation of sensorineural hearing loss,” according to a 2017 ENTtoday article (“Genetic Testing for Hearing Loss,” August 2017). “Now, genetic testing and diagnosis have fundamentally changed how we manage patients with vascular anomalies and craniofacial syndromes,” said Kathleen Sie, MD, division chief of otolaryngology–head and neck surgery at Seattle Children’s Hospital.
In 2015, researchers identified somatic PIK3CA mutations as the most common cause of isolated lymphatic malformations, which frequently affect the head and neck. This discovery opened the door to possible targeted medical therapy rather than surgery (JCI Insight. 2019;4:e129884). Since then, oral sirolimus, a drug known to inhibit the PI3K/AKT/mTOR pathway, has been used to successfully shrink lymphatic malformations in children, including lesions that were refractory to standard care (Pediatrics. 2016;137:e20153257; J Pediatr Surg. 2020;55:2454-2458; Front Oncol. 2021;11:616702). Researchers are also using alpelisib, a PI3K-specific inhibitor that’s FDA approved to treat PIK3CA-mutated breast cancers, to treat children with infantile hemangiomas and other lymphatic malformations with a PIK3CA mutation.
“We’re using medicines to basically suppress the activity of an activated gene,” said Jonathan Perkins, DO, professor of pediatric otolaryngology–head and neck surgery at the University of Washington in Seattle and chief of the Vascular Anomalies Program at Seattle Children’s Hospital. “That’s the definition of targeted therapy or precision medicine.”
Previously, discovery of a large lymphatic malformation in utero almost always meant that the baby would likely require surgery after birth. Today, Dr. Perkins said, he prescribes medication, and most lesions shrink significantly.
“There have been several cases where, in the past, we’d have to do a tracheotomy; now, we’re not needing a tracheotomy,” he said.
Although alpelisib is not yet FDA approved to treat lymphatic malformations in children, the drug trial studying the effectiveness of alpelisib in treating nonmalignant PIK3CA-induced conditions is underway.
“I think molecular genetic diagnosis will be central to assessing and categorizing these conditions and determining treatment,” Dr. Perkins said. “Up until this point, it’s been ‘you have a lymphatic malformation. You need this treatment or that treatment,’ and those treatments have usually been invasive. We’re evolving toward the ability to have targeted treatment options, and I think that’s really going to change treatment over the next five or 10 years. I’m putting myself out of business.”
Genetic testing has also recently revealed the cause of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome. Though researchers and clinicians have long noted strong familial clustering of PFAPA syndrome, earlier attempts at exome sequencing failed to reveal any common mutations (Sci Rep. 2015;5:10200). In 2020, researchers at the National Human Genome Research Institute linked several genes to the condition and discovered genomic similarities among PFAPA syndrome, Behcet’s disease, and canker sores. Because all three conditions share risk loci at IL12A, STAT4, IL10 and CCR1-CCR3, researchers propose calling them Behcet’s spectrum disorders (Proc Natl Acad Sci U S A. 2020;117:14405-14411.) There is also hope that drugs known to reduce inflammatory molecules such as IL12 may be effective in treating these disorders. “I expect we are on the threshold of wider applications for using genetic information for patient management,” Dr. Sie said.
Complex Pediatric Otolaryngology (CPO) Subcertification Underway
Pediatric otolaryngology officially has a new subcertification: complex pediatric otolaryngology (CPO).
On Nov. 2, 2021, 182 candidates took the first COP written certifying examination. Ninety-eight percent passed and earned their CPO subcertification, according to the American Board of Otolaryngology–Head and Neck Surgery.
CPO subcertification is “an indicator to patients, to the public, and to your peers within and outside of otolaryngology that physicians have satisfied all requirements of a rigorous eligibility process and demonstrated acquisition of the knowledge in the care of children with complex otolaryngologic disorders and children with complex medical conditions who also have common otolaryngologic disorders,” said Brian Nussenbaum, MD, the executive director of the American Board of Otolaryngology–Head and Neck Surgery.
The recent CPO subcertification of more than 170 pediatric otolaryngologists is the culmination of more than two decades of work. The effort to create the CPO subcertification started in the 1990s with its approval by the American Board of Medical Specialties (ABMS) and subsequent accreditation of fellowship training programs. Despite concerns about the subcertification’s potential impact on practice and referral patterns, physician collegiality, and physician income—and delays related to the emergence of a global pandemic—the first-ever round of CPO subcertification proceeded relatively smoothly. (For more on its history and criteria, see “Complex Pediatric Otolaryngology Subcertification” in the August 2020 issue of ENTtoday.)
“When we held a town hall meeting in August 2020, there were concerns brought forward about the board introducing a new subcertification in the midst of the pandemic,” Dr. Nussenbaum said. In response to those concerns, the board moved the exam date from July 2021 to November 2021. (“We wanted to be a little further out from the start of the pandemic and realized there would be benefits from having more time,” Dr. Nussenbaum said.) The board also increased the duration of time to attain subcertification from six to seven years for the training pathway and from seven to nine years on the practice pathway, with the practice pathway now closing in 2030 rather than 2028. Additionally, in response to reports of lower-than-normal case volumes during the pandemic, individuals were allowed to submit letters requesting an extra year to attain the minimum required case volume.
We’re evolving toward the ability to have targeted treatment options, and I think that’s really going to change treatment over the next five or 10 years. I’m putting myself out of business. —Jonathan Perkins, DO
“We did receive a few requests for a one-year extension, but none of those requests had anything to do with COVID-19 effects on case numbers,” Dr. Nussenbaum said. “They were very valid requests, however, and we did approve them.”
Nearly two-thirds of the first group of CPO subcertified pediatric otolaryngologists qualified via the practice pathway, which requires physicians to demonstrate management of 100 index cases within four consecutive years proximate to application. The remaining third qualified via the training pathway, which requires management of 50 index cases within two consecutive years proximate to application. Dr. Nussenbaum said that the board expects that approximately 50% or more of applicants will approach subcertification via the practice pathway for the next few years.
“We anticipate that around year four or five, we’ll probably start seeing more applicants from the training pathway than the practice pathway,” he said. “Once the practice pathway closes in 2030, CPO subcertification will be solely via the training pathway and we anticipate somewhere between 30 to 40 candidates per year.”
“Even with the introduction of CPO subcertification, the great majority of pediatric otolaryngology diseases and disorders in children can still be taken care of by those with primary board certification in otolaryngology–head and neck surgery,” he said. This is emphasized in a joint statement from the American Board of Otolaryngology–Head and Neck Surgery, the American Academy of Otolaryngology–Head and Neck Surgery, and the American Society of Pediatric Otolaryngology.
The next CPO subcertification exam is scheduled for Oct. 25, 2022. The application process is expected to open on Feb. 7, 2022.
Expanded Indications for Pediatric Transoral Robotic Surgery (TORS)
Transoral robotic surgery (TORS) is still “in its infancy in pediatrics,” according to Doug Johnston, MD, a pediatric otolaryngology–head and neck surgeon at Lurie Children’s Hospital of Chicago and an assistant professor of otolaryngology–head and neck surgery at the Northwestern University Feinberg School of Medicine in Chicago.
The da Vinci robotic system was approved by the U.S. Food and Drug Administration (FDA) for adult laparoscopic surgery in 2000 and FDA approved for transoral use in adults in 2009. Reza Rahbar, DMD, MD, and his colleagues reported the first pediatric transoral surgeries in 2007; after experimenting on four pediatric cadavers, the team successfully used TORS to repair laryngeal clefts in two out of five patients (Arch Otolaryngol Head Neck Surg. 2007;133:46 -50.)
Currently, physicians at fewer than 10 institutions in the United States are performing pediatric TORS, Dr. Johnston said, and the transoral approach is most frequently used to perform lingual tonsillectomy (often, to treat residual sleep apnea post tonsillectomy and post adenoidectomy) or laryngeal cleft repair. Physicians have also used TORS to remove malignant and benign oropharyngeal masses.
Since 2017, a few physicians have also used TORS to treat lingual thyroglossal duct cysts. Dr. Johnston and his team performed the first-ever modified Sistrunk procedure to transorally excise lingual thyroglossal cysts and the central portion of the hyoid bone (Laryngoscope. 2021;131: E1345-1348). The modified Sistrunk procedure can also be used to treat patients with recurrent or residual thyroglossal duct cyst, Dr. Johnston said.
“Using a special MRI sequence, we can detect primary or residual thyroglossal duct cysts in the base of the tongue. That gives us a target for surgery,” Dr. Johnston said. “We remove the tract at the base of the tongue along with the central hyoid bone (if not previously removed) with robotic surgery.”
I expect we are on the threshold of wider applications for using genetic information for patient management. —Kathleen Sie, MD
Patient selection is key to successful pediatric TORS. Surgeons must carefully assess the oral opening and size of the patient’s airway to determine if robotic surgery is feasible. (If you’re worried about oral access, consider endoscopy or bronchoscopy in the office or operating room before deciding upon a surgical approach.) Contraindications include poor mouth opening or a small jaw that prevents good exposure to the oropharynx.
Despite the advances made to date, significant barriers to pediatric TORS remain. Transoral robotic surgery is not yet FDA approved for children. Lack of FDA approval also means that manufacturers are not allowed to offer pediatric TORS training, so it can be difficult for interested surgeons to learn the necessary skills and techniques. Additionally, “there’s not a lot of framework for credentialing” pediatric otolaryngologists who wish to perform TORS, Dr. Johnston said, but he is “more than happy to help interested surgeons through this process by providing support and documentation.”
Yet, TORS offers advantages that are hard to overlook, including a 3D view of the surgical site and the ability to operate with two to three surgical arms that are much smaller than human hands, but offer greater degree of movement than the human wrist. “As time goes on, I think folks will realize that the outcomes with TORS can be at least as good, if not better, than traditional surgeries due to improved visualization and dexterity of tissue handling,” Dr. Johnston said. “I think that will be the ultimate driver for this novel approach.”
Dr. Sie agrees with this assessment. “I think it will be exciting to see what kind of applications emerge,” she said.
Increased Attention to Social Determinants Of Health
Surgery and medical management aren’t sufficient to address otolaryngologic diseases and disorders in children. Insertion of tympanostomy tubes may decrease the amount of fluid behind a child’s ears and improve hearing, but they may not help the child express herself clearly orally. Similarly, medical management of asthma that doesn’t consider the air a child breathes daily—or his family’s ability to access pricey inhalers—won’t be as effective as a holistic, family-centered approach.
According to a 2019 nationwide survey of more than 1,000 parents of children under the age of 18 done by Nemours Children’s Health System, only about one-third of the respondents were asked by a healthcare professional, hospital employee, or insurance provider about issues with safe housing, access to healthy food, access to quality childcare and schools, adequate transportation, or exposure to violence, despite the fact that these issues have a tremendous impact on child health.
Recent research has revealed the interplay between social determinants of health and otolaryngologic care. A 2018 review of healthcare disparities in pediatric otolaryngology found disparities in nearly every subspeciality, with low socioeconomic status, inadequate insurance, and non-White race affecting access to care and clinical outcomes (Laryngoscope. 2018;128:1699-1713). More recently, a 2020 study published in Otolaryngology–Head and Neck Surgery found that White children in Florida who have sensorineural health loss and private health insurance are significantly more likely to undergo cochlear implantation prior to age two than Black or Hispanic children with private health insurance—and just 17.2% of qualifying children with Medicaid received an implant prior to age two (Otolaryngol Head Neck Surg. 2021;164:667-674).
Are we expecting doctors and surgeons to become social workers? No. You don’t have to be the expert, but you ought to be able to direct a family to more information. —Julie Wei, MD
Increasingly, pediatric otolaryngologists are realizing that “it’s not enough to just be a surgeon,” said Julie Wei, MD, president-elect of the American Society of Pediatric Otolaryngology and division chief of otolaryngology at Nemour’s Children’s Health in Florida.
Many pediatric hospitals and practices have started screening families with questionnaires designed to assess social determinants of health. These tools are helpful, but “once we ask the questions, we need to have the resources to respond,” said Dr. Sie. Some hospitals now maintain food pantries, for example.
Dr. Wei’s division has curated a list of early intervention offices by county so all staff members can quickly refer families for speech and communication services. “When a child comes in with a speech delay, it’s not enough to do surgery and place ear tubes,” Dr. Wei said. “It’s incumbent on all of us to understand where the resources are in our communities.”
She also makes it a point to see all patients who arrive late for scheduled appointments. “I refuse to punish a child who has no control over time,” she said, noting that parents may not have access to reliable transportation or adequate time off of work. (One mother, said Dr. Wei, brought in her child an hour and a half past their scheduled appointment time—because the family’s house caught fire.)
“Are we expecting doctors and surgeons to become social workers? No,” Dr. Wei said. “We don’t have time to become experts on social services. You don’t have to be the expert, but you ought to be able to direct a family to more information.”
Jennifer Fink is a freelance medical writer based in Wisconsin.