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Syndromes Associated with Cleft Lip and Palate: A Multidisciplinary Approach

Author Quynh-Chi Dang covers Syndromes Associated with Cleft Lip and Palate: A Multidisciplinary Approach  on BackTable ENT

Quynh-Chi Dang • Jun 22, 2021 • 48 hits

Cleft lip and cleft palate are two malformations of the lip and roof of the mouth, respectively, that can arise spontaneously or as part of a broader syndrome in fetuses. For complex cleft patients, such as those afflicted by multi-systemic organ dysfunctions, a multidisciplinary medical team is required to manage multiple aspects of their health.

We’ve provided the highlight reel in this article, but you can listen to the full podcast below.

The BackTable ENT Brief

• Cleft lip and cleft palate refer to the improper separations of the lip and the roof of the mouth, respectively. Cleft lip and cleft palate embryology can be identified via a prenatal ultrasound.

• Genetic testing can determine if these malformations are present alone or as a component of a broader syndrome, such as Pierre-Robin Sequence or Stickler Syndrome.

• Sensorineural hearing loss as a result of eustachian tube dysfunction can arise in cleft palate patients because of inadequate fluid draining. Otolaryngologists should be vigilant in screening for hearing loss in children with cleft palate.

• If neurological symptoms are present, like in the case of Apert Syndrome or Crouzon Syndrome, it is beneficial to have a psychologist on the cleft care team care for the patient and their families.

• Multidisciplinary cleft care teams can ensure that cleft patients and their families receive the medical attention, resources, and information they need to address the child’s long-term medical management and development.

Multidisciplinary cleft lip and palate care team

Table of Contents

(1) Prenatal Identification of Cleft Lip and Cleft Palate

(2) Eustachian Tube Dysfunctions and Sensorineural Hearing Loss in Cleft Patients

(3) The Importance of Multidisciplinary Cleft Care Teams

Prenatal Identification of Cleft Lip and Cleft Palate

Cleft lip and cleft palate refer to the anatomical separations of the lip and the roof of the mouth, respectively. The two malformations can be attributed to environmental factors or genetics and can be present alone or as a component of a broader syndrome, such as Pierre-Robin Sequence or Stickler Syndrome. At 20 weeks, a cleft lip or cleft palate embryology can be revealed via ultrasound. If a cleft is identified, Dr. Goudy recommends performing comprehensive genetic testing to determine if the infant is at risk for other organ dysfunctions.

[Dr. Ashley Agan]
The topic of cleft lip and palate is pretty big. Can you first explain what that is and what it means?

[Dr. Steven Goudy]
The meaning of the word “cleft” is separation. So, a cleft of the lip is a separation of the lip. When your body is forming, your face is growing from the sides towards the middle, and the middle part is growing down. If they don't grow fast enough to touch, or they grow fast enough but then they don't join, you get a separation. We all start out with a cleft lip and a cleft palate. But for whatever reason, genetic or environmental or some combination therein, about a 1 in 1000 live births in the U.S. have a cleft or a separation of the lip or the palate. Cleft lip and cleft palate can be present alone, or as part of a syndrome among a constellation of other findings.

Each one of these situations sets the child on a different surgical trajectory and a different care team trajectory...Seeing a team of folks is best because then the team comes to you. This is preferable to a model where the family goes to multiple appointments on different days, where each care provider is pointing at the other one who's responsible for doing something. Having team-based care is a patient centered approach to care.

[Dr. Gopi Shah]
When do you first see these patients? With prenatal ultrasound, you see these families before the baby is born. How often does that happen? At what point in time do you start seeing babies in the NICU?

[Dr. Steven Goudy]
That's a great question. As you mentioned, we are identifying these differences earlier and earlier. Certainly, a cleft lip that is easier to detect than a cleft palate alone. If you've seen an ultrasound, you know that babies are in a quiet dark environment and then when you put the ultrasound on them and they start wiggling around and moving and it's hard to really identify some of these differences. The face grows and develops very early in life, so around the 10th week, their face is almost fully formed. If you're seeing the 20 week ultrasound, you will be able to identify some of these differences and then you can have conversations with the families and help them understand that this is not a consequence of them having a Diet Coke on Tuesday or eating Taco Bell on Wednesday. There's no attribution of blame. The conversation could help them identify what their child's care path is going to be and demystify it.

[Dr. Ashley Agan]
When they're first presenting, you mentioned the incidence of also having other comorbid issues or having different syndromes. Are you referring all of these patients for genetic testing?

[Dr. Steven Goudy]
I personally am. I think that information is power, but there are some families that don't necessarily want that for themselves because they have concerns about social stigma. I don't want to miss things. Lots and lots of these kids have genetic differences. In particular, if they have more than one physical finding, then there is a need for genetics so you don't miss kidney disease or cardiac disease. I think somebody just needs to see them, particularly if there's any type of family history.

For the families, it helps them understand their risk of having another child with the same difference.

Listen to the Full Podcast

Complete Cleft Care & Choosing Your Own Adventure with Dr. Steven Goudy on the BackTable ENT Podcast)
Ep 20 Complete Cleft Care & Choosing Your Own Adventure with Dr. Steven Goudy
00:00 / 01:04

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Eustachian Tube Dysfunctions and Sensorineural Hearing Loss in Cleft Patients

The eustachian tube in the ear is responsible for draining fluid from inside the ear into the back of the nose. In cleft patients, the opening of the tube may be blocked. Otolaryngologists will often place “ear tubes” in cleft patients at the time of cleft palate repair to assist fluid drainage and prevent ear infections. Dr. Goudy emphasizes the importance of early hearing screening and long-term ENT care for children, as undiagnosed sensorineural hearing loss can delay speech and development.

[Dr. Ashley Agan]
On the topic of eustachian tube dysfunction, do you typically see that improve after surgery and after they grow? Or do some of these patients have lifelong issues with eustachian tube dysfunction?

[Dr. Steven Goudy]
The answer is yes. Actually, I wrote a paper on that 15 years ago and the average number of ear tubes that patients get will be about three sets of ear tubes. About 50% of patients will resolve their eustachian tube dysfunction or fluid behind their ears after their palate repair, but 50% won't. They need to be followed long term by an otolaryngologist who understands tympanic membrane retractions, cholesteatoma, and screening for sensorineural hearing loss. A lot of these children will have syndromes which include heart disease, cleft lip, cleft palate, breathing issues, and tracheostomy tubes. Then, all of a sudden, you're a year or two down the road and you realize that this child has sensorineural hearing loss, needs hearing aids, has compounding speech delay and so on. We as otolaryngologists need to be advocates for these children and get proper hearing tests to identify it by one month, confirm it by three months, and treat it by six months. As an ENT, that is the mandate from our society and if we are not involved in the care of these patients, then this causes a potential delay in care and could affect lots of stuff.

The Importance of Multidisciplinary Cleft Care Teams

Cleft lip and cleft palate syndromes that involve multi-systemic dysfunctions often require complex care. For this reason, a comprehensive cleft care team should consist of otolaryngology, plastic and oral surgery, dentistry, orthodontics, audiology, speech pathology, genetics, and sometimes psychology if neurological symptoms are present, like in the case of Apert Syndrome or Crouzon Syndrome. In medical deserts, having a social worker on the cleft care team is necessary to guide families through resource selection and the challenges of long-term care for cleft patients.

[Dr. Gopi Shah]
Who are the members of a cleft team?

[Dr. Steven Goudy]
I think it's different across the country. Certainly, you want to have a surgeon and the surgeon can be any number of folks with different backgrounds: otolaryngology, plastic surgery, or oral surgery. Also, you need dentistry and orthodontics. You want to have an audiologist, speech pathologist, geneticist, and somebody that understands social work. You may need a psychologist, particularly for the children who have Apert and Crouzon syndromes. These are rare multifactorial conditions and there are a lot of hurdles that these families have to go through.

There are lots of things that these patients need and team care has reliable and reproducibly good results. Obviously the pandemic has really impacted people's access to care. Folks are actually doing cleft clinics remotely or virtually now. There are some silver linings to the pandemic because it allows the cleft team to get into the homes of families that have low resources and barriers to care.

[Dr. Ashley Agan]
The more the merrier for sure. I always feel better working with people who are experts in their area. You mentioned social work. How do they help patients navigate through all of this?

[Dr. Steven Goudy]
You guys are in Texas. Texas is a very big state and I'm sure that there are lots of medical deserts out there where some of these families are making the decisions: Do I drive four to six hours for a single appointment or a day's worth of appointments, or do I feed my family? Who in my environment can help me with formula to feed my baby to grow him or her big enough to have the surgeries? There are families that don't have those resources and social workers can help plug them into the local folks that have access to that.

Here in Georgia, we have a program called Babies Can't Wait that helps babies who are at risk for hearing loss or experience hearing loss in the first couple years of life. From a lean process standpoint, physicians and surgeons don’t need to do social work. That's not us working at the top of the scope. We are compassionate individuals, but we weren’t trained as social workers and certainly we can't execute on that. So, these families need to be supported in that way through social workers and social services.

[Dr. Gopi Shah]
I feel like I've had lots of different situations where I'm so thankful to have a social worker help me make my patients’ care complete and guide me through these difficult barriers. Like you said Steve, we're not trained to do it. We don't understand the mechanisms that are in place or how to utilize the resources that are there. I think families really appreciate when they have a social worker available to them or other resources.

Podcast Contributors

Dr. Steven Goudy discusses Complete Cleft Care & Choosing Your Own Adventure on the BackTable 20 Podcast

Dr. Steven Goudy

Dr. Steven Goudy is the Director of Pediatric Otolaryngology and Professor at Emory University. He is also the CEO and Founder Dr. Nozebest.

Dr. Gopi Shah discusses Complete Cleft Care & Choosing Your Own Adventure on the BackTable 20 Podcast

Dr. Gopi Shah

Dr. Gopi Shah is a practicing ENT at UT Southwestern Medical Center in Dallas, TX.

Dr. Ashley Agan discusses Complete Cleft Care & Choosing Your Own Adventure on the BackTable 20 Podcast

Dr. Ashley Agan

Dr. Ashley Agan is a practicing ENT and assistant professor at UT Southwestern Medical Center in Dallas, TX.

Cite This Podcast

BackTable, LLC (Producer). (2021, April 13). Ep. 20 – Complete Cleft Care & Choosing Your Own Adventure [Audio podcast]. Retrieved from https://www.backtable.com

Disclaimer: The Materials available on BackTable.com are for informational and educational purposes only and are not a substitute for the professional judgment of a healthcare professional in diagnosing and treating patients. The opinions expressed by participants of the BackTable Podcast belong solely to the participants, and do not necessarily reflect the views of BackTable.

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