Schizencephaly Health Article

Treatment

There is no cure for schizencephaly at this time. The treatment of schizencephaly is directed towards the symptoms caused by the abnormally formed brain. Seizures may require anticonvulsant drug therapy. Seizures that cannot be controlled with medications may be treated by surgical removal of the abnormal tissue surrounding the cleft. With complications of hydrocephalus, a surgical shunt procedure may be necessary to relieve fluid accumulation and pressure.

Recovery and rehabilitation

Due to the congenital nature of schizencephaly, symptoms tend to be unchanging and there is little recovery. Physical therapy may be useful in relieving symptoms of spasticity or paralysis and in improving mobility and ambulation. Occupational therapists may help maintain hand function in those with impaired ability.

Clinical trials

A clinical trial funded by the National Institutes of Health is underway to identify the genes responsible for schizencephaly and other developmental brain disorders associated with epilepsy. Contact information for the Walsh laboratory is listed under Resources.

Prognosis

The prognosis for individuals with schizencephaly depends on the amount of neurologic deficiency associated with the malformation. Some patients with unilateral clefts may only have seizures and no other cognitive or motor abnormalities. Seizures may respond to medications or require surgery if unmanageable. Patients with severe mental retardation and paralysis will often require lifelong dependent care and may have a shortened lifespan as a result of infections such as pneumonias. Bilateral clefts are associated with earlier onset of seizures and seizures that are more difficult to treat.

Special concerns

Due to developmental disability, individuals with schizencephaly may benefit from special education programs. Various state and federal programs are available to help individuals and their families with meeting these needs.

BOOKS

Menkes, John H., MD, and Harvey Sarnat, MD, eds. Childhood Neurology, 6th edition. Philadelphia: Lippincott Williams & Wilkins, 2000.

"Congenital Anomalies of the Nervous System." Nelson Textbook of Pediatrics, 17th edition, edited by Richard E. Behrman, MD, Robert M. Kliegman, MD, and Hal B. Jenson, MD. Philadelphia, PA: Saunders 2004.

PERIODICALS

Guerrini, R., and R. Carrozzo. "Epilepsy and Genetic Malformations of the Cerebral Cortex." American Journal of Medical Genetics 106 (2001): 160–173.

Ross, M. E., and C. A. Walsh. "Human Brain Malformations and Their Lessons for Neuronal Migration." Annual Review of Neuroscience 24 (2001): 1041–1070.

WEBSITES

National Institutes of Neurological Disorders and Stroke (NINDS). Schizencephaly Information Page. (February 26, 2004). <http://www.ninds.nih.gov/health_and_medical/disorders/schizencephaly.htm>.

National Institutes of Neurological Disorders and Stroke (NINDS). Cephalic Disorders Information Page. (February 26, 2004). <http://www.ninds.nih.gov/health_and_medical/pubs/cephalic_disorders.htm>.

ORGANIZATIONS

March of Dimes Birth Defects Foundation. 1275 Mamaroneck Avenue, White Plains, NY 10605. (914) 428-7100 or (888) MODIMES; Fax: (914) 428-8203. askus@marchofdimes.com. <http://www.marchofdimes.com>.

National Information Center for Children and Youth with Disabilities. P.O. Box 1492, Washington, DC 20013-1492. (202) 884-8200 or (800) 695-0285; Fax: (202) 884-8441. nichcy@aed.org. <http://www.nichcy.org>.

National Institute of Child Health and Human Development (NICHD). Bldg. 31, Rm. 2A32, Bethesda, MD 20892-2425. (301) 496-5133 or (800) 370-2943. NICHDClearinghouse@mail.nih.gov. <http://www.nichd.nih.gov>.

Walsh Lab Web Site. 4 Blackfan Circle, Boston, MA 02115. (617) 667-0813; Fax: (617) 667-0815. cwalsh@bidmc.harvard.edu. <http://walshlab.bidmc.harvard.edu/>.

Peter T. Lin, MD