Cephalic Disorders
What are Cephalic Disorders?
Cephalic disorders are congenital conditions that stem from damage to or
abnormal development of the budding nervous system. Most cephalic disorders are
caused by a disturbance that occurs very early in the development of the fetal
nervous system. Damage to the developing nervous system is a major cause of
chronic, disabling disorders, and sometimes death in infants, children, and even
adults. Cephalic disorders may be influenced by hereditary or genetic conditions
or by environmental exposures during pregnancy (e.g., medication taken by the
mother, maternal infection, exposure to radiation). Some cephalic disorders
occur when the cranial sutures (the fibrous joints that connect the bones of the
skull) join prematurely. Understanding the normal development of the human
nervous system may lead to a better understanding of cephalic disorders.
Is there any treatment?
Treatments for cephalic disorders depend upon the particular type of
disorder. For most cephalic disorders, treatment is only symptomatic and
supportive. In some cases, anticonvulsant medications shunts, or physical
therapy are appropriate.
What is the prognosis?
The degree to which damage to the developing nervous system harms the mind
and body varies enormously. Many disabilities are mild enough to allow those
afflicted to eventually function independently in society. Others are not. Some
infants, children, and adults die; others remain totally disabled; and an even
larger population is partially disabled, functioning well below normal capacity.
What research is being done?
Scientists are rapidly learning how harmful insults, a critical nutritional
deficiency, or exposure to an environmental insult at various stages of
pregnancy can lead to developmental disorders. Research projects currently
underway include a study to evaluate increased risk of neural tube defects and
various other congenital malformations in association with environmental and
occupational exposure to pesticides. Scientists are also concentrating their
efforts on understanding the complex processes responsible for normal early
development of the brain and nervous system and how the disruption of any of
these processes results in congenital anomalies such as cephalic disorders.
Currently, researchers are examining the mechanisms involved in neurulation --
the process of forming the neural tube. Investigators are also conducting a
variety of genetic studies. Understanding how genes control brain cell
migration, proliferation, differentiation, and death, and how radiation, drugs,
toxins, infections, and other factors disrupt these processes will aid in
preventing many congenital neurological disorders. Recent studies have shown
that the addition of folic acid to the diet of women of child-bearing age may
significantly reduce the incidence of neural tube defects. Therefore, it is
recommended that all women of child-bearing age consume 0.4 mg of folic acid daily.
Organizations
Birth Defect Research for Children, Inc.
800 Celebration Avenue, Suite 225
Celebration, FL 34747
betty@birthdefects.org
www.birthdefects.org
Tel: 407.566.8304
Fax: 407.566.8341
Lissencephaly Network
10408 Bitterroot Court
Ft. Wayne, IN 46804
LissencephalyOne@aol.com
Tel: 260.432.4310
Fax: 260.432.4310
March of Dimes Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
askus@marchofdimes.com
www.marchofdimes.com
Tel: 914.428.7100 888.MODIMES (663.4637)
Fax: 914.428.8203
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
www.rarediseases.org
Tel: 203.744.0100 Voice Mail 800.999.NORD (6673)
Fax: 203.798.2291
Source: National Institutes of Health; National Institute of
Neurological Disorders and Stroke
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