Autism Spectrum Disorders

Media reports on the causes of ASD have focused on the fact that older fathers (40 and over) are more likely than younger fathers to have children with an ASD, probably because of gene mutations that accumulate over the years in sperm-making cells. Yet older mothers (35 and over) face a similar risk that is entirely independent of their partners’ age. But for older mothers, scientists know very little about why this risk exists. The Einstein researchers looked for genetic as well as environmental influences that might account for older mothers’ increased risk for having children with ASD.

Researchers at Duke University have developed software that tracks and records infants’ activity during videotaped autism screening tests. Their results show that the program is as good at spotting behavioral markers of autism as experts giving the test themselves, and better than non-expert medical clinicians and students in training.

The findings, believed to the be the first to show a direct relationship between motor skills and autism severity, indicate that development of fine and gross motor skills should be included in treatment plans for young children with autism.

In a study of nearly 1,000 mother-child pairs, researchers from the Bloomberg School of Public health found that prenatal exposure to selective serotonin reuptake inhibitors (SSRIs), a frequently prescribed treatment for depression, anxiety and other disorders, was associated with autism spectrum disorder (ASD) and developmental delays (DD) in boys.

“We were very surprised by these findings because we expected that maternal obesity would be the main risk factor for the development of ASD. It means that we have had too much focus on the mother and too little on the father. This probably reflects the fact that we have given greater focus to conditions in pregnancy, such as the growth environment for the foetus in the womb than both environmental and genetic factors before conception,” says Surén.

The findings add a significant new dimension to basic brain cell function. Scientists have long assumed that brain cell receptors are only active on the surface of cells. The new study shows that receptors can be active inside cells, and their effects can be considerably different from the same receptors located on the cell surface.

The study found that in the brains of children with autism, key genetic markers were absent in brain cells in multiple layers. This defect indicates that the crucial early developmental step of creating six distinct layers with specific types of brain cells – something that begins in prenatal life – had been disrupted.

The research team found that not only was DUF1220 linked to severity of autism overall, they found that as DUF1220 copy number increased, the severity of each of three main symptoms of the disorder — social deficits, communicative impairments and repetitive behaviors – became progressively worse.

Children with autism spectrum disorders (ASD) or attention deficit hyperactivity disorder (ADHD) were more likely to exhibit gender variance, the wish to be the other gender, than children with no neurodevelopmental disorder, or a medical neurodevelopmental disorder such as epilepsy or neurofibromatosis.