Researchers Find Mix of Tools Needed to Help Diagnose Autism

Autism is a complex developmental disorder, and diagnosing it properly usually involves a combination of different tests. In the latest issue of JAMA, scientists provide the most up-to-date assessment yet of which tests work best for detecting genetic mutations associated with certain kinds of autism. Categorizing the various forms of autism will be important to guide parents to the proper care, the researchers say.Traditionally, autism is diagnosed with behavioral tests that assess whether kids are meeting developmental milestones, such as talking, interacting with their parents and siblings, and learning to give and take in social situations. In recent years, researchers have been working on other ways to detect and potentially diagnose autism. Scientists have identified more than 100 genes connected with a higher risk of developing autism.

Report Cites Behavioral and Genetic Differences Among Siblings with Autism

Most siblings with a diagnosis of autism do not share the same genetic risk factors for the disorder and are as distinct in their behaviors as any brothers and sisters, scientists reported on Monday in a study that came as a surprise to many doctors, if not to parents.

Scientists analyzed genetic material from 85 families, using a technology called whole-genome sequencing. Unlike other approaches, which illuminate a sample of a person’s genetic material, the whole-genome technique maps out the entire voluminous recipe, every biological typo, every misplaced comma or transposed letter. Each of the families had two children with a diagnosis of autism.

Scientist Link 60 Genes to Autism Risk

Researchers have found dozens of new genes that may play a role in causing autism, according to two studies published Wednesday in the medical journal Nature.

Scientists identified 60 genes with a greater than 90% chance of increasing a child's autism risk. Previous research has yielded only 11 genes that had been confirmed with this level of certainty.Though other studies have shown the importance of genetics in the development of autism, experts say these new studies zero in on the exact nature of the genetic mutations that cause the disorder

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.