Apert Sydrome: Physical Traits

The Brain:
Inside the brain are areas called ventricles, which are filled with cerebral spinal fluid. One could think of the ventricles as little lakes, inside the head. Occasionally, these ventricles become filled with too much fluid. Most all children with Apert syndrome have ventricles that are larger than normal. No treatment is required for this enlargement, unless a neurosurgeon determines that the enlargement is associated with an increased pressure. Sometimes these ventricles get so large that they begin to "squish" the brain from the inside. In this case, a pediatric neurosurgeon might recommend placing a shunt, or tube, with one end placed inside the ventricle of the brain, and then the tube is tunneled under the skin down to the abdominal cavity in order to drain off the fluid, through the other end of the tube. Typically, once a shunt is placed, the child requires one for the rest of his/her life. A newer option, currently under investigation, is the third ventriculostomy, which opens up a connecting pathway between ventricles.

Another condition that may occur is called cerebellar tonsillar herniation, or a Chiari malformation. This occurs uncommonly in Apert syndrome, nevertheless, it is very important to screen for this. The floor of the skull has a hole called the foramen magnum, through which the spinal cord exits. Sometimes, part of the brain called the cerebellar tonsils can get "pushed" down into this hole, like a cork in a wine bottle. If this happens there can be reduced flow of cerebral spinal fluid, and a child might develop a particular type of sleep apnea (this means that the child doesn't get enough oxygen while asleep) called central apnea. We believe that cerebellar tonsillar herniation should be checked for at least once a year until the child is grown (see publications [ #18, 2001]), and that the development of this condition may reflect an increase in intracranial pressure signaling the need to bring the forehead further forward to create more room. Unfortunately, this condition is difficult to assess on routine CT scans, and is best evaluated with a specialized CT or an MRI. This should be discussed with either your craniofacial surgeon or pediatric neurosurgeon.

There are also some other differences that may be noted on a CT scan, such as an absent septum pellucidum, or corpus callosum (different parts of the brain). Studies done at our center suggest that the absence of these structures does not seem to affect a child's I.Q.

Raised intracranial pressure is a concern for all Apert children until teenage years. Children with Apert syndrome have bigger brains. As the brain grows, the skull is not able to keep up with this growth, at least in part because of the fused coronal sutures. This condition means that the skull needs to be enlarged with surgery (see treatment below). It is very important that growing children be closely monitored by experienced physicians to make sure that the intracranial pressure is not getting too high. This monitoring is done a number of ways: having a pediatric neuro-ophthalmologist evaluate the optic discs, following head circumference measurements, checking CT scans, and/or MRIs, monitoring overall development, and looking for signs such as headaches or vomiting, just to name a few.

Most children with Apert syndrome have developmental delays. I believe that the multiple hospitalizations and surgical procedures these children endure, may play a role in this, although certainly there are other factors at work (sleep apnea, central wiring problems, raised intracranial pressure, and others). A review of approximately 80 children with Apert syndrome at our center who had undergone testing revealed that the average I.Q. was 78. However, children with Apert syndrome may have very different scores, some higher, some lower. We have treated some children with normal I.Q.s, who have gone on to do well in college. Obviously, an I.Q. test can only test for one form of intelligence, are there are so many kinds of intelligence that we can not test; such as musical, creative, social, artistic, to name a few. I recommend that you challenge your child to develop to his or her fullest.