Paine Syndrome Health Article

Diagnosis

The disease is often diagnosed at birth when the size of the head is measured, though a small head circumference may be identified later during a routine exam if it is not detected shortly after delivery. Imaging procedures (such as an x ray, CT scan, or MRI) are used to identify the structural abnormalities of the brain and skull. Analyses of blood and urine are also performed. An electroencephalogram (EEG), a non-invasive test that measures the electrical activity of the brain, may be recommended to help assess developmental problems or detect relevant brain or nervous system abnormalities.

Treatment and management

There is no cure for Paine syndrome. The changes in brain structure associated with the disease cannot be reversed. When possible, treatment focuses on alleviating symptoms. Anticonvulsants, for example, can be used to help control seizures; dextroamphetamine may also be prescribed to ease symptoms. In addition to drugs, orthopedic surgery is sometimes necessary. Family education and genetic counseling for parents is also recommended.

Prognosis

Due to its debilitating effects on the brain and nervous system, Paine syndrome is usually fatal within one year after birth.

BOOKS

Victor, Maurice, et al. Principles of Neurology. 7th ed. New York: McGraw-Hill, 2001.

PERIODICALS

Lubs, H.A., P. Chiurazzi, J.F. Arena, et al. "XLMR genes: Update 1996." American Journal of Medical Genetics 64 (1996): 147–57.

Opitz, J.M., et al. "International workshop on the fragile X and X-linked mental retardation." American Journal of Medical Genetics 17 (1984): 5–94.

Paine, R.S. "Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria." New England Journal of Medicine 262 (1960): 658–65.

ORGANIZATIONS

U.S. National Library of Medicine. 8600 Rockville Pike, Bethesda, MD 20894.

WEBSITES

U.S. National Library of Medicine. <http://www.nlm.nih.gov>.

Greg Annussek