Experts on autism spectrum disorder (ASD) – the neurological developmental disability affecting one to two percent of the world – have said for years that it can be diagnosed around a child’s second birthday and in many countries at two-and-a-half years. 

More recently, published Israeli studies show that symptoms associated with autism can be identified as early as the first year of life and that early detection allows for therapeutic intervention. These diagnoses were based on video recordings of infants and their interaction with their parents. 

The studies maintained that symptoms could be observed from the age of four to six months, but most parents didn’t know how to interpret the developmental significance of these signs or they expected that some of the signs they noticed would disappear later. Signs linked to autism identified were lack of eye contact and lack of response to parents’ voices or presence, excessive passivity or – alternatively – excessive activity, delay in motor development, refusal to eat, aversion to touch and accelerated growth of head circumference. 

New Israeli research on early diagnosis of autism even before the baby is born is now even more exact and measurable. Routine prenatal ultrasound in the second trimester can identify early signs of, a new study by Ben-Gurion University (BGU) of the Negev and Soroka University Medical Center, both in Beersheba.

Researchers from BGU’s Azrieli National Center for Autism and Neurodevelopment Research published their findings last month in the prestigious peer-reviewed journal Brain under the title “Association between ultrasonography foetal anomalies and 1 autism spectrum disorder.” The study was conducted as part of Ohad Regev’s doctoral thesis, advised by Prof. Idan Menashe and Prof. Reli Hershkovitz. Additional researchers from BGU and Soroka included Dr. Amnon Hadar, Dr. Gal Meiri, Dr. Hagit Flusser, Dr. Analya Michaelovski and Prof. Ilan Dinstein.

The researchers examined data from hundreds of prenatal ultrasound scans from the fetal anatomy survey conducted during mid-gestation. They found irregularities in the heart, kidneys and head in 30% of fetuses that later developed ASD, a three-times- higher rate than was found in typically developing fetuses from the general population and twice as high as their typically developing siblings.

Anomalies were detected more often in girls than in boys and the severity of the anomalies was also linked to the subsequent severity of ASD, even though autism is more common in boys. The study and others will be discussed at the Israeli Meeting for Autism Research to be held February 15 and 16th. 

Menashe, a member of the center and the public health department in the Faculty of Health Sciences, led the research with his MD/doctoral student Ohad Regev.

“Doctors can use these signs, discernable during a routine ultrasound, to evaluate the probability of the child being born with ASD,” said Menashe. “Previous studies have shown that children born with congenital diseases, primarily those involving the heart and kidneys, had a higher chance of developing ASD. Our findings suggest that certain types of ASD that involve other organ anomalies, begin and can be detected in the uterus.”

A previous study of the center found early diagnosis and treatment increased social ability by threefold. Prenatal diagnosis could mean a course of treatment from birth instead of waiting until age two or three years or even later.