Study: Autism and Schizophrenia Develop During Short Period in Infancy

Genes connected to the two disorders may only be active for a brief window of time.The study, while in mice, could provide clues about how the developmental disorders develop. Focusing on a region of the brain known as the subplate, where the first nerve cells develop, researchers at the University of Oxford, King’s College London and Imperial College London found that genes linked to autism and schizophrenia were only active in these regions during early stages of brain development.

Fragile X Protein Linked to Autism Genes

DURHAM, N.C. – Doctors have known for many years that patients with fragile X syndrome, the most common form of inherited intellectual disability, are often also diagnosed with autism. But little has been known about how the two diagnoses are related.
Now a collaborative research effort at Duke University Medical Center and Rockefeller University has pinpointed the precise genetic footprint that links the two. The findings, published online in the journal Nature on Dec. 12, 2012, point the way toward new genetic testing that could more precisely diagnose and categorize the spectrum of autism-related disorders.

Study: Half of Intellectual Disability Caused By Random, Not Inherited, Genetic Mutations

BERLIN -- More than half the cases of severe intellectual disability caused by genetic defects are the result of random mutations, not inherited mutations passed down from parents, a new study suggests.
The findings of the small-scale European study give hope to parents of children born with a severe intellectual disabilities who are worried about having another baby with the same condition, said Anita Rauch, chair of the Institute of Medical Genetics in Zurich who was one of the study's lead authors.

Autism, ADHD Share Genetic Similarities

A new study from Canada linking Autism and ADHD is garnering attention here in the U.S.

TORONTO, Canda -- Similar genetic changes found in some people with ADHD and in some with autism may help explain why children with the hyperactivity disorder often have symptoms of other developmental disorders, a new study reports.

The study identified several genetic changes that are present in a small portion of both attention deficit hyperactivity disorder (ADHD) patients and autism patients, and that are absent in people without these disorders.

A Father's Search for Down Syndrome Drug

Early in the evening of June 25, 1995, hours after the birth of his first and only child, the course of Dr. Alberto Costa’s life and work took an abrupt turn. Still recovering from a traumatic delivery that required an emergency Caesarean section, Costa’s wife, Daisy, lay in bed, groggy from sedation. Into their dimly lighted room at Methodist Hospital in Houston walked the clinical geneticist. He took Costa aside to deliver some unfortunate news. The baby girl, he said, appeared to have Down syndrome, the most common genetic cause of cognitive disabilities, or what used to be called “mental retardation.”
Costa, himself a physician and neuroscientist, had only a basic knowledge of Down syndrome. Yet there in the hospital room, he debated the diagnosis with the geneticist. The baby’s heart did not have any of the defects often associated with Down syndrome, he argued, and her head circumference was normal. She just didn’t look like a typical Down syndrome baby. And after all, it would take a couple weeks before a definitive examination would show whether she had been born with three copies of all or most of the genes on the 21st chromosome, instead of the usual two.

Down Syndrome Test in Development

SAN DIEGO -- Genetic test maker Sequenom Inc. said Monday it will collaborate with Illumina on a new test that detects fetal abnormalities that can lead to Down syndrome.

Under the agreement Sequenom will use Illumina's genetic sequencing equipment and other technology to develop a test for pregnant women that can detect high levels of chromosome 21, which is associated with Down syndrome.

New Clues to Genetic Root of Autism

Random changes in genes, rather than changes handed down from parents, may be responsible for some cases of autism, say scientists who report in three new papers a major breakthrough in understanding where those genetic changes may lie.
The findings suggest that autism is a genetically complex disorder, involving perhaps hundreds of spontaneous changes in genes. The discoveries should help researchers gain a better understanding of the biology of the disorder and find targets for better treatments. It's latest in a steady stream of good news from autism researchers recently, who have reported on innovative ways to diagnose the disorder earlier and on new genes that contribute to it.

Link Seen Between Genes and Autism

While the genetic underpinnings of autism are enormously complex, new DNA research is honing in on sets of abnormal genes that may play a role in the disorder.
Researchers from the Center for Biomedical Informatics at The Children's Hospital of Philadelphia (CHOP) said that, while other scientists have theorized about a connection between gene mutations, impaired brain development, and the onset of autism, their work is the first to establish the link.