Autism Cause Detectable in Many Patients
Autism Cause Detectable in Many Patients
March 14, 2002 -- A careful medical workup reveals the cause of severe autism in more than a third of cases, Dutch researchers report.
The findings could improve autism treatment and prevention. They also lay the groundwork for better studies of how autism risk is passed from one generation to the next.
"This study is especially valuable for improving the [treatment] of patients," lead study author Clara D.M. van Karnebeek, MD, tells WebMD. "It lets us say more about prognosis. It takes us closer to the possibility of genetic counseling. And it helps us say more to parents about the risks to future children."
Autism is a symptom, not a disease in and of itself. It varies widely in severity. No single thing causes it. Most researchers believe that a person inherits a genetic susceptibility to autism. Some environmental or biological event during pregnancy or very early childhood is then thought to trigger autism.
Van Karnebeek and colleagues did extensive medical, neurological, and genetic testing of 25 adults with severe autism. All of the patients lived in an institute for the mentally retarded. The researchers found definite causes of autism in five of the patients and likely causes of autism in four patients.
Causes identified varied widely and included fetal alcohol syndrome, problems arising in early infancy, metabolic problems, genetic defects, and fetal exposure to a substance that causes birth defects.
The most helpful tool in determining cause of autism was getting a careful history of the patient, including information on the mother's pregnancy and on family health. Careful physical examination was also very helpful, as was a type of genetic testing called karyotyping that determines the makeup of an individual's chromosomes.
Patricia M. Rodier, PhD, director of the collaborative program of excellence in autism at the University of Rochester, N.Y., reviewed the study for WebMD.
"What I like about this study is that it reminds us that autism is a medical disorder," Rodier says. "It looks at all kinds of physical and genetic and neurological features to look for risk factors that could explain the condition."
Why is this important?
First, the study identifies risk factors that pregnant women can avoid. Second, it shows that some patients have underlying problems, although there aren't yet treatments for most of these problems. Finally, the study shows that at least some cases of autism fall into subgroups. This raises hopes that specific genetic tests -- and maybe future gene therapies -- could predict or even treat some types of autism.
Autism Cause Detectable in Many Patients
March 14, 2002 -- A careful medical workup reveals the cause of severe autism in more than a third of cases, Dutch researchers report.
The findings could improve autism treatment and prevention. They also lay the groundwork for better studies of how autism risk is passed from one generation to the next.
"This study is especially valuable for improving the [treatment] of patients," lead study author Clara D.M. van Karnebeek, MD, tells WebMD. "It lets us say more about prognosis. It takes us closer to the possibility of genetic counseling. And it helps us say more to parents about the risks to future children."
Autism is a symptom, not a disease in and of itself. It varies widely in severity. No single thing causes it. Most researchers believe that a person inherits a genetic susceptibility to autism. Some environmental or biological event during pregnancy or very early childhood is then thought to trigger autism.
Van Karnebeek and colleagues did extensive medical, neurological, and genetic testing of 25 adults with severe autism. All of the patients lived in an institute for the mentally retarded. The researchers found definite causes of autism in five of the patients and likely causes of autism in four patients.
Causes identified varied widely and included fetal alcohol syndrome, problems arising in early infancy, metabolic problems, genetic defects, and fetal exposure to a substance that causes birth defects.
The most helpful tool in determining cause of autism was getting a careful history of the patient, including information on the mother's pregnancy and on family health. Careful physical examination was also very helpful, as was a type of genetic testing called karyotyping that determines the makeup of an individual's chromosomes.
Patricia M. Rodier, PhD, director of the collaborative program of excellence in autism at the University of Rochester, N.Y., reviewed the study for WebMD.
"What I like about this study is that it reminds us that autism is a medical disorder," Rodier says. "It looks at all kinds of physical and genetic and neurological features to look for risk factors that could explain the condition."
Why is this important?
First, the study identifies risk factors that pregnant women can avoid. Second, it shows that some patients have underlying problems, although there aren't yet treatments for most of these problems. Finally, the study shows that at least some cases of autism fall into subgroups. This raises hopes that specific genetic tests -- and maybe future gene therapies -- could predict or even treat some types of autism.
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