|
Schizencephaly
You’ve been told that your child has a condition called schizencephaly. Most
people have never heard of this and have no idea what it means for their
child or for their family. This brochure gives you some general information
about schizencephaly. Our knowledge of schizencephaly is expanding all the
time but currently we still have many, many unanswered questions.
What is schizencephaly?
Schizencephaly is a medical term that refers to a particular abnormality in
the way that the brain developed during pregnancy. Schizencephaly means that
there is a cleft or a slit in the brain. A cleft in schizencephaly extends
from the surface of the brain all the way through to the ventricle, which is
a normal fluid-filled space deep within the brain. The ventricle is thus
directly connected to the surface of the brain in schizencephaly, which is
not the case in the normal brain. The cleft can be bilateral (on both sides
of the brain) or unilateral (on one side of the brain). The walls of the
cleft can be touching each other or separated. Closed lip schizencephaly is
the term used when the walls are touching each other, and open lip
schizencephaly means that the walls are separated.
Schizencephaly can occur by itself or it can occur in association with other
abnormalities of the brain. For example, the brain tissue lining the walls
of a cleft in schizencephaly often demonstrate polymicrogyria, another
developmental abnormality. How your child may be affected by schizencephaly
depends on many things, including where the cleft occurs, what type of
schizencephaly he or she has, and whether or not other problems are
associated with it.
How is schizencephaly diagnosed?
MRI (magnetic resonance imaging) is the best way to diagnose schizencephaly.
Sometimes, CAT (computed axial tomography) scans or other ways of imaging
the brain can show schizencephaly, but MRI is the most definitive method.
What causes schizencephaly?
Schizencephaly can arise from multiple different causes. Sometimes problems
during pregnancy, such as infections or exposure to certain drugs or toxins,
can cause the development of schizencephaly. In some cases schizencephaly
may be due to a genetic problem (i.e., a change in a gene). Genetic problems
include both those that run in families and those that have appeared for the
first time in the child who is affected. Changes (mutations) in a gene
called EMX2 have been found in a small number of patients, although this
does not seem to be the case for the majority of affected individuals.
Often, we cannot find a specific cause for schizencephaly in a particular
child.
How will schizencephaly affect my child?
As discussed above, how significantly your child may be affected depends on
where the cleft occurs in the brain, whether it is unilateral or bilateral,
whether it is the open lip or closed lip type, and whether it is associated
with other brain malformations. Individuals with bilateral open lip
schizencephaly are often developmentally delayed and can have difficulties
with both language and motor skills. Seizures often occur in these
individuals and can become difficult to control. On the other hand,
individuals with unilateral closed lip schizencephaly may have quite minor
neurological problems or could even be completely normal. They may only have
mild weakness on one side of the body or seizures that are easy to control
with medications. Individuals with other forms of schizencephaly can fall
anywhere in between these groups in terms of how significantly they are
affected. Therefore, to get the best information on how your own child will
do, it is important to discuss with your doctor the specific characteristics
of his or her schizencephaly.
Is my child appropriate for your research studies?
Our laboratory and others around the world are studying schizencephaly. We
are interested in examining both the genetic and the non-genetic causes of
this disorder.
If your child’s schizencephaly is bilateral or if there is some other reason
to suspect that your child’s condition has a genetic cause, he or she may be
appropriate for that part of our research. We are trying to identify the
gene(s) that may be responsible for schizencephaly. Identification of the
gene(s) will tell researchers the types of proteins that are important in
brain development. Researchers can then study these proteins to learn how
they function and this knowledge, eventually, may lead to better treatment
for individuals with schizencephaly in the future.
We are also studying non-genetic factors that may cause schizencephaly, such
as problems during pregnancy. This part of our study involves a telephone
interview of biological or adoptive parents of children with schizencephaly.
Learning about some of these non-genetic causes may help us counsel patients
in the future about what factors lead to an increased risk for
schizencephaly.
If you are interested in this study, please contact our research coordinator by e-mail at
walshlab@bidmc.harvard.edu
or by phone at (617) 667-8035.
|
Christopher A. Walsh
Laboratory