Pregnancy and ensuing childbirth present the possibility for any of a number of complications — some subtle, others obvious ¬— that can test parents as well as medical professionals. In the case of Craniosynostosis, a condition that can easily be mistakenly dismissed as a temporary problem that infants will outgrow, parents and health experts need to be cognizant of the symptoms to forestall the possibility of serious problems arising down the road.
At the root of the issue is awareness, and in the New York area The Jorge Posada Foundation www.jorgeposadafoundation.org and the Bronx-based Children’s Hospital at Montefiore www.montekids.org are at the nucleus of efforts to educate the public about the risks posed by undiagnosed Craniosynostosis. At Montefiore, David A. Staffenberg, MD, Chief Division of Plastic Surgery and Surgical Director of the Center for Craniofacial Disorders, is spearheading efforts to promulgate information about Craniosynostosis and works with newborns and children to diagnose and treat the medical condition.
The Jorge Posada Foundation was established by New York Yankees’ All-Star catcher Jorge Posada and his wife, Laura, whose son was born with Craniosynostosis. The Foundation reaches out to families affected by Craniosynostosis by providing financial assistance to help alleviate the often-costly burden of surgical procedures and aftercare. In addition, the Foundation raises awareness by underwriting teaching at Montefiore and other respected medical institutions, while disseminating information about Craniosynostosis to the general public.
According to Dr. Staffenberg, “the incidence of Craniosynostosis is about one in every 2,000 births. Early diagnosis is crucial in detecting Craniosynostosis and alerting professionals to take remedial action. The cautionary issue arises when parents and even physicians attribute infant “bed head,” “flat head” or “funny head” to a temporary condition when, in fact, the child may be suffering from the more serious Craniosynostosis. “Many times people just don’t put all the pieces together.”
Dr. Staffenberg further explains, “most cases that come our way have one thing in common: a mother who just won’t give up. They have a sense that something just isn’t right with their babies’ head.” Laura Posada is the prime example of such a mother, he says. “She just kept pushing to obtain the best care for her son.” There is a missing link in the infant’s development that alerts parents that their child is suffering from something more serious than simply “bed head,” Dr. Staffenberg says.
Craniosynostosis can begin to occur even before a baby is born. As the infant’s brain develops in the womb, the skull forms in sections, separated by joints called sutures, and expands concurrently to allow the brain to grow normally. In Craniosynostosis, the sutures fuse too early, which can adversely affect brain growth. This can result in a number of issues, from misplaced eyes and ears or a malformed face and forehead, and can even accompany other severe problems. These can range from torticollis also known as “wryneck,” eye problems and pressure on the brain, to neurological issues that can impact intellectual and cognitive and behavioral development. While some of the causes can be identified, most cases are sporadic and the only effective treatment is surgery. In some rare forms a genetic disorder may be diagnosed by sophisticated testing. The complex surgery to correct Craniosynostosis is usually performed in the first several months of life and is performed by a multidisciplinary team consisting of a plastic surgeon and a neurosurgeon. There are several such recognized teams around the country. There is no known cause of Craniosynostosis, and it is also important to emphasize that there is no blood test to confirm its diagnosis.
Fortunately early diagnosis can allow physicians to prevent serious conditions from developing. Doctors can diagnosis Craniosynostosis by performing a variety of procedures, but the diagnosis is ually made based on a simple physical examination by an experienced physician. Other procedures that may be necessary might include, CAT scans and MRIs. Genetic testing can also be performed to gauge whether there is an inherited predisposition to the syndrome. Among the symptoms of Craniosynostosis are: absence or early disappearance of a “soft spot” at the top of the infant’s head; raised ridges along the sutures in the baby’s head; a misshapen or malformed head and skull, in more complex cases involving sutures.
Once a child is diagnosed with Craniosynostosis, the most prevalent treatment is reconstructive surgery. The goals of the procedure are: to relieve any pressure on the brain that may be present; to provide enough room in the skull for the baby’s brain to develop normally; and to improve the appearance of the child’s head.
According to Dr. Staffenberg, the earlier a child is diagnosed, the greater the chances for a successful outcome. “We want to know about the condition when the baby is young: as soon as possible,” he states. “Making the diagnosis early allows us to plan for the correction.” Failure to diagnose Craniosynostosis properly can put the child at greater risk for physical, developmental and psychosocial issues. And the later the condition is diagnosed, the higher the number of invasive procedures that may be required to reverse its effects. “With severe forms of Craniosynostosis, kids can go lose their vision without timely treatment; it can impede their breathing and therefore eating and sleeping can become difficult. The serious nature of these potential issues is clear to all of us.”
Dr. Staffenberg urges parents and physicians who may suspect a cranial development problem to have their infant evaluated by their pediatrician who will then refer them to a multidisciplinary team like ours at The Children’s Hospital at Montefiore. “It is important not to be afraid to have your baby evaluated,” he insists. “Awareness, education, evaluation and intervention are keys to ensure the best outcome for our babies.” The goal is not just to keep children healthy, but to allow them to grow up and pursue their dreams and to be able to make their own contribution to society,” Dr. Staffenberg says.