SCIENCE / MEDICINE : Scientists Seek Causes, Cures for Cleft Babies : Health: The complex affliction, one of the most common birth defects, has researchers debating treatment options--including surgery while still in the womb.
While Lisa Winslow was pregnant, the question was always in the back of her mind: Would her baby, like her husband, Warren, be born with a cleft lip and palate? In the delivery room, her doctor’s joyful exclamation “It’s a boy!” was followed by more somber news, “He has a cleft.”
Like Kyle Winslow, now 6 years old, one of every 700 babies is born with a cleft lip and palate. A cleft lip can be a slight notch in the upper lip or a bigger split extending all the way to the nose. A cleft palate is a crack in the roof of the mouth. Both can affect the way a child talks, eats and breathes.
Cleft lips and palates are the third-most common birth defect, behind clubfeet and heart defects.
More often than not, cleft babies face a rough road. Several surgeries usually are needed to repair the defect because of the complex nature of the affliction. The children often have related dental and medical problems, including ear infections, and are slow to learn to talk. Facial growth is abnormal, sometimes making children the butt of cruel jokes, as Lisa Winslow knows all too well. Her 3-year-old daughter Cami was also born with a cleft lip and palate. “It hurts when they come home and say the other kids tease them,” said Winslow, who lives in Whittier.
Although scientists have studied cleft lip and palate for years, their search for the cause and best treatment is far from over. Progress is best described as slow and steady. There’s a trend toward performing surgery earlier than in the past, which can result in fewer speech problems and higher self-esteem for the children.
New fiber-optic technology makes it easier to pinpoint anatomical problems and helps the surgeon and speech therapist design treatment plans. There is a continued emphasis on a team approach, with many health care specialists working on treatment together. Repairing the cleft before birth--called in utero surgery--is under study, although many specialists are skeptical. And scientists persevere in their hunt for the cause, or causes.
About 20% of cleft defects are genetic, said Harold Slavkin, professor of craniofacial molecular biology at the USC School of Dentistry. The other 80% are caused by medications and drug use by the mothers, mere coincidence and other factors, he said.
Surgery to repair cleft lips and palates already has come a long way.
“In general, cleft lips are repaired about 3 months of age,” said Dr. John F. Reinisch, co-director of the Craniofacial and Cleft Center at Childrens Hospital, Los Angeles, and USC chair of plastic and reconstructive surgery. “Cleft palate used to be repaired at 18 months and sometimes still is. But now there’s a tendency at some centers to do it at age 10 months or a year.” Experts say earlier repair results in fewer speech problems, and studies confirm that contention. In a study published earlier this year in the British Journal of Plastic Surgery, researchers concluded that delaying surgery may lead to persistent abnormal speech patterns, although the gap between the early surgery and late surgery groups was narrower than expected.
Physicians also are becoming more aggressive about cleft surgery and try to maximize correction with each operation, said Dr. Gerald M. Sloan, director of the Craniofacial and Cleft Center at Childrens Hospital and an assistant professor of surgery at USC. “We’d like to do all corrections in two or three operations,” he said.
A new technique called Z-plasty, in which the palate is closed in a zigzag pattern rather than a straight line, is becoming widespread. It can’t be used in all cases, said Dr. Libby Wilson, a plastic surgeon at Rancho Los Amigos Medical Center, Downey, and USC associate clinical professor of surgery. “The wider the cleft, the more difficult to do Z-plasty,” she said.
But when it can be done, it’s preferable, she said. “When suturing is done in a Z-pattern, it repositions the cleft muscles to a more normally functioning position.” Palate muscles, located in the roof of the mouth, help regulate the air flow that enables people to talk, eat and breathe.
Most controversial of the treatments under study is surgically repairing the cleft while the baby is still in the womb. The technique has only been tried on animals. One researcher, Dr. Leonard Kaban, professor and chairman of the department of oral and maxillofacial surgery at UC San Francisco School of Dentistry, induces a full cleft lip in unborn animals. He says he has been successful in repairing cleft lip in all of the surviving animals.
However, he says that about 25% of the fetuses did not survive, though all the mothers survived.
Another researcher, Dr. Walter A. Sullivan of Detroit, studied repairs in the womb and found that fetal tissue can heal without scarring. Eliminating scar tissue isn’t just a cosmetic concern, Sullivan said, because scars can extend deep beneath the skin and interfere with nerves, bone and blood vessels. The results of his in utero repair were published in November in the Plastic Reconstructive Surgery journal.
But some cleft palate specialists don’t share the fever for in utero repair. “There’s no reason to think it will be beneficial in humans,” said Sloan of Childrens Hospital. “It’s incredibly risky to do in humans, and it’s all very preliminary.”
“At this stage, I agree,” said Kaban, who emphasized that in utero repair for humans is probably a decade or more away. The point of his work, he said, is not convenience but study of a larger question. “Our hypothesis is, if we repair cleft lip in utero, there will be no scar formation and no inflammation.” Kaban is trying to determine if the scars and inflammation cause abnormal facial growth.
Opponents of in utero repair say efforts would be better spent on continued improvement of surgical techniques after birth.
Even after successful lip and palate surgery, many children have ear problems. When palate muscles don’t work correctly, they can’t keep clear the Eustachian tubes, the small ducts connecting the throat to the middle ear. Fluid can accumulate behind the middle ear, causing ear infections and temporary hearing loss. As a solution, some surgeons make an incision in the eardrum, a procedure called a myringotomy, and insert a tiny ventilating tube.
Some children also need speech therapy. Designing a treatment plan for speech improvement is now easier, thanks to the widespread use of fiber-optic nasoendoscopy, a technique that allows lighted viewing of the palate. “It can identify whether the palate is functioning adequately to close off the back of the nose and ensure normal speech,” said Dr. Seth Pransky, a San Diego pediatric ear-nose-throat specialist who uses the technique. It can also help surgeons decide when to operate and can give children feedback on their speech progress.
“A child sits in a chair and topical anesthesia is applied to the nose,” said Susan Gray, a speech pathologist at Childrens Hospital, where the device is also used. “A small lighted tube with a tiny camera is inserted up the nose. It’s not painful.” The child watches an adjacent television screen, which displays the top of the palate and back and sides of the throat. “Children can talk normally so the speech therapist can watch the functional dynamics.” In the past, a rigid, uncomfortable endoscopic tube was inserted into the mouth, said Gray, making it difficult to talk. Minimizing speech therapy isn’t just cost-effective, Gray added. “If a child finishes speech therapy more quickly, it can boost self-esteem too.”
Surgeons and speech therapists aren’t the only specialists on the cleft palate team. Orthodontists are also vital to correct such problems as incorrectly positioned or missing teeth. “The ideal team would also include a pediatrician, an ear doctor, a prosthodontist, a nurse, a social worker, an audiologist and a dysmorphologist (genetic defect specialist),” said Dr. Leslie Holve, a pediatrician and medical director of Cleft Palate Services at St. John’s Hospital and Health Center in Santa Monica.
Shortly after a baby is born with a cleft lip or palate, social workers often help parents cope with their disbelief and anger. “Some parents have trouble even looking at the child,” said Reinisch of Childrens Hospital.
There are misconceptions to correct, too, Holve said. “Folklore comes out of the woodwork. People think cleft is related to eclipses or to trauma during pregnancy. Some think an encounter with a rabbit during pregnancy results in the cleft,” which once was called “harelip.”
While doctors work to dispel myths, scientists like Slavkin try to zero in on the cause or causes. “Scientists are moving toward the idea that clefting has many different causes, like cancer,” Slavkin said. “Research strongly suggests that the disorder is not always due to a defect in the same gene.”
Two years ago, London researchers sparked interest in the scientific community by linking a rare form of cleft palate to a faulty gene on a portion of the X chromosome, one of two that determine sex. Slavkin calls the research an important piece in a very big puzzle. “One can’t extrapolate from that research that all cleft palate is X-linked,” Slavkin said. “Some is autosomal (linked to a chromosome other than a sex chromosome); some is drug-induced.”
Scientists know, for example, that taking the anti-convulsant medications prescribed for the treatment of epilepsy is associated with cleft. In the lab, they are trying to discern the signals that direct the palate to grow together, and then determine how the medication alters normal growth.
Cleft is also associated with the mother’s use of alcohol, chemotherapy and the acne medication isotretinoin, also known as Accutane, Slavkin said.
For families like the Winslows, patience is the key. Kyle has had two surgeries to repair his cleft lip and palate and five sets of ear tubes inserted. His sister has had three surgeries to repair a cleft lip and palate and four sets of ear tubes inserted. “The hardest part is yet to come,” Lisa Winslow said. Upcoming is jaw repair, extensive orthodontic work and additional speech therapy.
“There always seems to be another surgery on the horizon,” she said.
The American Cleft Palate-Craniofacial Assn. maintains a toll-free hot line, (800) 242-5338, to disseminate information and refer parents to support groups.
CLEFT LIP AND PALATE VARIATIONS
One of every 700 babies is born with a cleft lip and palate. A cleft lip can be a slight notch in the upper lip or a bigger split extending to the nose. A cleft palate is a crack in the roof of the mouth. Both occur in varying severity.
