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Key To Early Diagnosis Of Autism May Be In The Placenta

Main Category: Autism News

Article Date: 29 Jun 2006 - 3:00am (PDT)

Researchers at Yale School of Medicine have discovered in the placenta what

may be the earliest marker for autism, possibly helping physicians diagnose

the condition at birth, rather than the standard age of two or older.

The findings are reported in the June 26 online issue of Biological

Psychiatry. Autism is a developmental disorder that has a profound effect on

socialization, communication, learning and other behaviors. In most cases,

onset is early in infancy. Information on the earliest development aspects

of autism in children has been limited even though approximately one in

every 200 children is diagnosed with an Autism Spectrum Disorder (ASD). The

earlier the diagnosis is made, the greater the treatment impact.

Current studies are searching for characteristics in children at risk for

ASD so that the diagnosis can be made prior to age one. The ideal time for

diagnosis would be at birth, according to senior author on the study Harvey

J. Kliman, M.D., research scientist in the Department of Obstetrics,

Gynecology & Reproductive Sciences at the Yale School of Medicine.

In previous work, Kliman had observed an unusual pathologic finding in the

placentas from children with Asperger Syndrome, an ASD condition which, like

autism, impairs the ability to relate to others.

" By serendipity, at a dinner party I happened to sit next to M.

, a research scientist in the Yale Child Study Center who had access

to many cases of children with ASD, " said Kliman. " We realized that by

working together we might be able to determine if this placental abnormality

could be a useful clinical marker. "

With the help of s-Stannard, a student in Kliman's laboratory,

and Katarzyna Chawarska and Fred R. Volkmar of the Yale Child Study Center,

the group designed a study to see if the placental abnormality, specifically

the presence of trophoblast inclusions, was a marker for ASD. The

multidisciplinary team of Yale researchers compared placentas from 13

children with ASD to those from 61 unaffected children for the presence of

trophoblast inclusions.

They found that the placentas from ASD children were three times more likely

to have the inclusions. Kliman and the team identified trophoblast

inclusions by performing microscopic examinations of placental tissues.

" We knew that trophoblast inclusions were increased in cases of chromosome

abnormalities and genetic diseases, but we had no idea whether they would be

significantly increased in cases of ASD, " said Kliman. " These results are

consistent with studies by others who have shown that ASD has a clear

genetic basis. "

Trophoblast inclusions reflect abnormal folding of microscopic layers in the

placenta and appear to result from altered cell growth. Kliman likened the

presence of trophoblast inclusions to an automobile check-engine-light.

" When the light goes on it simply means that something is not right, " said

Kliman. " If the light is on and there is, for example, steam coming from

under the hood, then it is likely that the radiator is leaking. However, if

the check engine light is on and there is nothing obviously wrong, then the

car should be carefully checked. "

The Yale team plans to replicate the evaluation with larger multi-center and

prospective studies. They will examine the placentas of the children in the

study in greater detail to gain insight into the biological basis of the

inclusions in ASD.

Volkmar said, " If the work is confirmed by the next series of studies, then

the finding of trophoblast inclusions at the time of birth in the absence of

any obvious genetic abnormalities would be an indication to have a child

examined by a specialist to determine the presence of ASD. "

###

Harvey Kliman can be reached at harvey.kliman@...

Citation: Biological Psychiatry, Published online (June 26, 2006)

Contact: N. Peart

Yale University

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