SchaferAutismReport: New Screen Evaluated for Autism

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Wednesday,

October 29, 2008p

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In This Issue:

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RESEARCH

New Screen Evaluated for Autism

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PUBLIC HEALTH

Miracles or Menaces?

Some Miss. Parents Home-Schooling Kids To Avoid Vaccinations

Precautionary Approach To Methylmercury Needed

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•

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EDUCATION

City School Aims To Pave The Way For Better Autism Education

Alabama Officials Announce Autism Program

PEOPLE

Denis Leary Tells Parents: I’m Sorry

Police: Sitter Beat Autistic Boy

MEDIA

Starting Bio-Medical Treatment 'Late'

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RESEARCH

New Screen Evaluated for Autism

By ine www.medscape.com/viewarticle/582596

Scientists have added new pieces to the

genetic puzzle surrounding autism spectrum disorders (ASD) using an

inexpensive and potentially widely available screen that detects targeted

submicroscopic chromosomal abnormalities in children with this disorder.

In a paper published online October 16 in

BMC Medical Genomics, the researchers describe using novel probes in 279

children with ASD to pinpoint duplications and deletions in various DNA

sequences. Among other things, they found aberrations in regions of

chromosomes 15 and 22 — areas already known to be involved in disorders of

autism and cognitive impairment — but they also uncovered microduplications

in a region previously not linked to ASD.

" This is about a new method that can be

translated into a rapid and thorough screen " for certain known causes

of autism, said ph Buxbaum, PhD, from the Seaver and New York Autism

Center of Excellence, at Mount Sinai School of Medicine, in New York, who

led the research team.

Important Ramifications for Genetic

Counseling Recently, several groups have shown that deletions and

duplications in various DNA sequencing can be important in ASD. The discovery

has important ramifications for genetic counseling and early interventions,

said Dr. Buxbaum.

For the current research, the scientists

used multiplex ligation-dependent probe amplification (MLPA), which

involves 2 probes that are homologous to the genetic sequence of interest.

As the probes bind, researchers can join them with a ligase and evaluate

that stretch of DNA. The researchers were also able to look for

abnormalities in chromosome methylation in the

Prader-Willi/Angelman-syndrome region, which is an analysis that is

straightforward with MLPA.

This approach verified the involvement in

autism of areas already known to be aberrant in various other syndromes of

cognitive impairment, including

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Vol. 12 No.

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