Syndromes Associated with Cleft Lip and Palate: A Multidisciplinary Approach

[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.

[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.