Rare Brain Abnormalities Often Misdiagnosed in Patients

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April 19, 2004
National Institutes of Health and Kennedy Krieger Host Awareness Conference for Parents, Clinicians and Researchers

Baltimore- In a new study, researchers at Kennedy Krieger Institute have found that a significant number of children with severe brain disorders are being misdiagnosed, potentially affecting treatment and outcome.

The study, published online in the March issue of the American Journal of Medical Genetics, looked at 104 children diagnosed with holoprosencephaly, or HPE, a rare condition in which the brain does not grow and divide into hemispheres as it should during the first few weeks of pregnancy. Of 255 children referred to the study with a diagnosis of HPE, upon brain scan review, 19 percent actually had other types of brain disorders, and not HPE.

"The conclusions reaffirm the need for more awareness and understanding of HPE and other serious developmental disabilities among the medical community," says Dr. Elaine Stashinko, Ph.D., principal investigator of the study, which will be presented at the third NIH Conference on Holoprosencephaly April 18 to 20 at the National Institutes of Health. On April 21, parents of children with HPE from all over the country will be attending a family conference at Kennedy Krieger, where they will network, speak with experts and receive clinical evaluations.

There is a general lack of awareness about HPE and its spectrum of clinical outcomes. Many times when a family is given the diagnosis of HPE, they are frequently told that their child has no chance for survival or meaningful interaction. Yet the average age of the children in this study was 4 years, with the oldest living child currently age 22.

It is imperative for pediatricians and obstetricians to provide accurate information about the spectrum of clinical outcomes. In the most serious cases, children with HPE die in-utero or during early infancy. Children with this severe form of HPE often have abnormal chromosomes and facial malformations. Common problems in children with HPE are movement disorders, mental retardation, seizures, feeding problems and delayed development. However, children with milder forms of HPE have much less impairment and may live into adolescence and beyond.

In-utero detection of a child with HPE is essential to improving a parent's ability to make informed decisions about their pregnancy and prepare for challenging child-care. Although detection through an ultrasound at 18 to 20 weeks gestation has significantly improved prenatal diagnosis, most children in this study were diagnosed after birth Accurately identifying children with HPE after birth requires a MRI or CT brain scan review.

The actual frequency of HPE may be as high as one in 250 pregnancies, however, the majority of these pregnancies end in miscarriage. It is estimated that HPE occurs in 1 in 10,000 live births.

"The earlier a child is diagnosed with HPE, the earlier he/she can be referred to specialized developmental services, including occupational therapy, physical therapy, speech therapy and medical services, enabling that child to meet his or her fullest potential," Dr. Stashinko says.

The Kennedy Krieger event coincides with a two-day NIH Conference on HPE, at which the medical community will learn more about the condition, newest research and treatment techniques.

Kennedy Krieger Institute is one of the few centers in the country that specializes in the treatment of HPE. Children and their families from all over the world come to the Institute's Carter Center to receive the most comprehensive treatment and education about the condition.

To learn more about HPE and the Carter Centers for Holoprosencephaly and Related Disorders, visit the Carter Center web site at www.standford.edu/group/hpe.

Kennedy Krieger Institute is dedicated to helping children and adolescents with disabilities resulting from disorders of the brain achieve their potential and participate as fully as possible in family, community and school life.

Media Inquiries:

Allison Loritz, (443) 923-7330
Julie Lincoln, (443) 923-7334

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