Autism Spectrum Disorders

The findings could lead to new treatment strategies and new ways to detect autism early, the researchers say. Autism spectrum disorder is a neurodevelopmental condition affecting nearly 1 in 88 children.

Eye contact during early infancy may be a key to early identification of autism, according to a study funded by the National Institute of Mental Health (NIMH), part of the National Institutes of Health. Published this week in the journal Nature, the study reveals the earliest sign of developing autism ever observed — a steady decline in attention to others’ eyes within the first two to six months of life.

Researchers at Johns Hopkins say they have found that a gene already implicated in human speech disorders and epilepsy is also needed for vocalizations and synapse formation in mice. The finding, they say, adds to scientific understanding of how language develops, as well as the way synapses — the connections among brain cells that enable us to think — are formed.

New research by scientists at Rutgers University and The Research Institute at Nationwide Children’s Hospital in Ohio, reveals that there is a genetic link connecting family members with autism like Lorenzo Miodus-Santini to those like his brother, Christian, who have specific language impairment characterized by speech and language difficulties that can’t be explained by cognitive or physical problems.

Researchers have uncovered an association between autism spectrum disorders and a small increase in the amount of weight a mother gains during pregnancy.

Malanga’s finding suggests that not all people with Fragile X share the same biological hurdles. The same is likely true, he said, for people with other autism-related disorders, such as Rett syndrome and Angelman syndrome.

The prime cause of the Fragile X syndrome may be a translational imbalance that results in elevated protein production in the brain. Restoration of this balance may be necessary for normal neurological function.

Understanding how miRNAs regulate FOXP2 may open many possibilities to influence speech and language development through genetic variations in miRNA genes, as well as behavioral and environmental factors.

The pig, the jellyfish and the zebrafish are being used by scientists at Aarhus University to, among other things, gain a greater understanding of hereditary forms of diseases affecting the nervous system. This can be disorders like Parkinson’s disease, Alzheimer’s disease, autism, epilepsy and the motor neurone disease ALS.

“Now we have a much better understanding of the function of MECP2, and the severity of the disease on a cellular level. Knowing that human Rett neurons are impaired in both global transcription and translation is important for us to design therapeutic strategies for Rett. Growth factors such as BDNF and IGF-1 are known to activate the AKT/mTOR pathway and increase protein synthesis. Down the road, we are interested in further exploring the Akt/mTOR pathway, and investigate how activation of this pathway could reverse the disease.”