Discovering the Causes of Cleft – Nguyên nhân sứt môi/hở hàm ếch ở trẻ em

Operationsmile

The highest rates occur in Southeast Asia

Editor’s Note: The Philippines holds a special place in the history  and future  of our organization. It was there that Dr. Bill Magee, a plastic surgeon, and his wife Kathy, a nurse and clinical social worker, became inspired to create Operation Smile after witnessing firsthand the dire need for life-changing cleft surgeries while working an independent volunteer medical mission in 1982. Unable to provide surgery for so many children due to lack of resources, the Magees promised to return. We’ve been going back ever since. As we work into our 35th year, we’re highlighting the birthplace of Operation Smile with this four-story series. This story is the first of a two-part feature on the International Family Study.

Whether traveling from surrounding villages or distant islands, families in the Philippines seeking cleft surgeries for their children must sacrifice precious time and resources to reach Operation Smile medical mission sites. This scene is playing out once again on Cebu, the fourth most populous of the more than 7,000 islands comprising the archipelagic country.

The Operation Smile screening area at University of Cebu Medical Center is packed with patients and their families who could not access surgery in their communities. One of the patients at the Cebu medical mission is Loraine, a 7-year-old who received surgeries to both her cleft lip and cleft palate from Operation Smile about two years ago. This time, she’s back to receive surgery to repair a small fistula in her palate.

While she has much in common with many of the patients gathered here, Loraine’s family is special. Her father, many of his sisters and their children also suffer from cleft conditions.

Photo: Jörgen Hildebrandt.
Photo: Jörgen Hildebrandt.

This unusually high concentration of cleft cases within Loraine’s family piqued the interest of a team of researchers from the International Family Study (IFS) working at the medical mission.

A medical research collaboration between Operation Smile and our partners at the University of Southern California and Children’s Hospital Los Angeles (CHLA), IFS analyzes genetic data obtained from saliva samples voluntarily provided by patients, their families and control groups, as well as information collected from maternal and paternal questionnaires on environmental exposures and lifestyle habits.

The first study of its kind, IFS blends the data from this genetic analysis with the questionnaire findings to provide the most comprehensive understanding of the causes of cleft conditions. The ultimate goal of the study is to put this evidence into action to prevent cleft conditions before they develop in the womb.

Ongoing since 2009, the study has been conducted in nine different countries – the Democratic Republic of the Congo, Honduras, Madagascar, Mexico, Morocco, Nicaragua, Peru, Philippines, and Vietnam – representing the poorest segments of those populations and includes more than 10,500 individuals across over 4,700 families. More than 3,200 individual samples were collected from about 1,400 families in 2016 alone. To date, the project has amassed the largest repository of genetic information relating to global cleft populations ever collected.

Photo: Jörgen Hildebrandt.
Photo: Jörgen Hildebrandt.

Before the medical mission began, the IFS team decided to collect data from Loraine’s family where they live on Botigues, a small island northwest of Cebu. Christine Stafford, a research coordinator at CHLA, had to take a “pump boat” – a traditional outrigger canoe powered by a small gasoline engine – to get to the remote island’s fishing harbor, where many of Loraine’s family members came to welcome her.

“This family is very special because it’s such a big family and many of them suffer from cleft conditions,” Stafford said. “The bigger the family, the easier it is to find what causes it.”

Having just arrived home from school, Loraine and her cousins were dressed in their school uniforms. Some of the smaller children had untreated cleft lip and cleft palate. Loraine’s father was born with a cleft lip and cleft palate and so were four of his sisters. Two of his other sisters were born only with cleft palate and his four younger brothers were born with no deformities. Now, most of them met here to give Christine saliva samples for genetic analysis.

“What we hope to give back to these communities is overall knowledge. We need to do it in terms of preventative measures and implementations in the community… That knowledge will hopefully empower communities to try to reduce the burden of cleft lip and cleft palate throughout the world.”
– Frederick Brindopke, Project Manager, International Family Study

“We wanted to come and visit this family because when you’re studying the genetic component as a cause of cleft lip and palate, it’s very helpful to look at a family, because then you can compare the family members to each other,” Stafford said. “You can see what the family members with cleft have in common, and then you can see what they don’t have in common with the members without the deformity.”

Like most houses here, Loraine’s house is built of coconut wood with a cement floor and a scrap metal roof. Loraine’s father collects and sells scrap metal and recyclables to make a living for his family. There were piles of rubber tires and plastic bottles in the yard waiting to be transported and sold. A fire of leftover scrap burned in the middle of the clearing, and the family’s pig foraged for food in the shade of a tree.

Photo: Jörgen Hildebrandt.
Photo: Jörgen Hildebrandt.

Loraine’s father prepared a meal for the guests and his relatives. He cooked fish and crab on a stove heated by wood fire. Rainwater is collected in huge barrels, but there is also a deep well in the village that’s used as a water source.

According to IFS research, potential risk factors for cleft conditions are present in this environment. Though Loraine’s father is the cook this evening, maternal cooking with wood fire has been identified as a risk factor, as has maternal use of well water. Others include advanced maternal age, pregestational hypertension, gestational seizures, paternal tobacco smoking, paternal lower education, maternal rural residency, maternal indoor tobacco exposure and maternal exposure to agricultural and industrial chemicals.

“What we hope to give back to these communities is overall knowledge,” IFS project manager Frederick Brindopke said. “We need to do it in terms of preventative measures and implementations in the community – whether that’s anti-smoking campaigns or campaigns to enhance prenatal care for mothers – so that they’re being seen as soon as they’re pregnant to receive the vitamins and nutrition they need.

“That knowledge will hopefully empower communities to try to reduce the burden of cleft lip and cleft palate throughout the world.”

The story continues in “Discovering the Causes of Cleft, Part 2:” a Q&A with IFS project manager Frederick Brinopke.

Photo: Jörgen Hildebrandt.
Photo: Jörgen Hildebrandt.

At the Operation Smile medical mission site in Cebu City, International Family Study (IFS) project manager Frederick Brindopke is busy collecting saliva samples for genetic analysis from each baby waiting for surgery. He holds one of the infants in his arms and carefully swabs the inside of the cheeks. The baby just curiously watches Frederick, fascinated by the tickling feeling.

More than 10,500 individuals have experienced this simple, painless collection method during the course of IFS, which is a collaboration between Operation Smile, University of Southern California and Children’s Hospital Los Angeles aimed at finding the causes of cleft conditions. The first study of its kind, IFS blends the data from this genetic analysis with findings from questionnaires on environmental exposures and lifestyle habits to provide the most comprehensive understanding of the causes of cleft. The ultimate goal of the study is to put this evidence into action to prevent cleft conditions before they develop in the womb.

Amid his busy on-site schedule, we asked Brindopke for deeper insight into this study.

Q: How common are cleft conditions?

A: “It really varies. It is important to notice that research so far has been lumping cleft lip and palate together, but more and more we find there’s different incidences for them. But just cleft lip and cleft palate grouped together is very different throughout the world. The highest rates are seen in Southeast Asia, about one in 500 or two in 1,000, so it’s among the highest in the world. Whereas in Africa, we see different rates of cleft of about one in every 1,000 children born.

Q: What about cleft cases in the U.S. or Europe?

A: “It’s about on par, a little bit more common than Africa. The thing is we don’t see it as much because they’re treated very quickly since surgical access is much more available in the U.S., so, on average throughout the world, we say one in 700.

Q: Describe IFS and what makes it such a unique study?

A: “The study is really a unique partnership between a nonprofit that’s providing medical care, as well as academic partners and holistic and comprehensive care partners such as the Children’s Hospital (Los Angeles). We’re also a unique study in that we have some of the largest collections of genetic information regarding clefts in the world as of now.

“We are trying to look at risk factors that increase the chances of developing clefts and trying to see what environmental exposures these parents and their families are being exposed to.”

Photo: Jörgen Hildebrandt.

Q: Why are families like Loraine’s so valuable to IFS research?

A: “These kind of families can definitely give us information, specifically in the genetics. There are specific genes that are being passed along. And we can also look at if they have protective genes — why certain members of their families didn’t develop clefts while others did. But you also need to take into consideration if there is an environmental exposure that is affecting everyone as well. We hope to find what is causing the problem in this family, and it could potentially be a new cause of cleft that has not been reported before.”

Q: Why is understanding data collected from the fathers of children with cleft conditions critical to the study?

A: “Including the fathers in the study also makes our research different from others, because in a lot of scientific journals and scientific studies, the father hasn’t been included. Part of that are logistics, because fathers are hard to collect. Typically, the mother is in charge of their child’s health, taking the child to the doctor and so on. But fathers really represent half of the child’s genes, so we think that is a vital key in understanding cleft lip and cleft palate, as well as the risk factors.”

Q: How does the research help the patients and families it studies?

A: “What we hope to give back to these communities is overall knowledge. Understanding the risks for developing clefts, understanding what kind of behaviors lead to higher likelihood of cleft lip and cleft palate developing. So really, we think that information is valuable but we also think we need to do it in terms of preventative measures and implementations in the community — whether that’s anti-smoking campaigns or campaigns to enhance prenatal care for mothers — so that they’re being seen as soon as they’re pregnant to receive the vitamins and nutrition they need.

“Unfortunately it’s too late for the children who come to the missions — they’ve already been born with the cleft lip or cleft palate. But what we’re trying to say to these families is that, ‘Your child is going to grow up and have kids of their own one day, so hopefully we have better answers for you in terms of health behaviors you can try to avoid, and certain things that will elevate your children’s risk for cleft lip and cleft palate,’ and with that knowledge, hopefully empower communities to try to reduce the burden globally of cleft lip and cleft palate throughout the world.”

Photo: Jörgen Hildebrandt.
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