Predicting Autism

A pioneering behavioural study funded by Great Ormond Street Hospital Children's Charity (GOSH Charity)  is examining the relationship between babies born with a genetic condition and the likelihood of them developing autism.

Approximately one in every 2,500 children is born with NF1, which is also known as neurofibromatosis type 1.

For some, the genetic mutation is inherited from parents. For others, the mutation appears unexpectedly. NF1 can affect multiple parts of the body and physical symptoms range from benign tumours, to a curved spine, a large head and high blood pressure.

It has recently been discovered that autism is common among people with NF1. Now the study at Birkbeck University is exploring the impact the condition has on children’s behaviour and whether it increases their likelihood of developing autism. The researchers were awarded funding by GOSH Charity in 2015 through our annual national funding round, which aims to support high quality research around the UK to improve child health.

By conducting observations of babies at five, 10 and 14 months old, the researchers are hoping to find biomarkers – measurable characteristics – that can help them to identify which babies have an increased risk of developing autism. Spotting these early warning signs will ensure children with autism are given the right support from a young age, giving them the best possible quality of life. For some parents, it could also offer an opportunity to slow the progression of autism or prevent certain behaviours from developing altogether.

“At the moment, we don’t know how to spot the biomarkers,” says Dr Emily Jones, one of the three-strong team. “We have to wait until the children are about three years old. Then we’ve got to look back on the data, so it’s a slow research process.”

So far, 12 families are involved in the study. Initially parents are asked to fill in a questionnaire about their infant’s general development. Dr Begum Ali says: “It’s things like measuring milestones. Is the baby sitting up yet? Are they crawling? Questions about temperament and sleep diaries. We add a few language development questions when they get to 10 and 14 months old.

“We then track where the the babies are looking and how long they’re looking for. We also record their heart rate – if it increases or decreases – to measure their levels of engagement.”

Next, the team conducts a series of behavioural play games. Dr Begum Ali says: “We have a puppet show and we see how they react when the puppets disappear. We have frustration tasks where we give them something and then take it away to see how they respond. They can get a bit frustrated.” The team even sing to the babies to monitor reactions.

Brain response and activity is captured using an electroencephalogram (EEG) and near-infra red spectroscopy (NIRS). Both techniques are risk-free, non-invasive ways of recording how babies’ brains interpret information from their surroundings, by using sensors attached to their heads.

“When you show videos of people to babies with a high risk of developing autism, they don’t show the same activation over the right brain regions that typically developing babies do. Typical babies will activate the temporal lobe above the ear, which is a social brain region. Infants with a higher chance of developing autism don’t,” says Dr Jones.

The team are already collecting reams of data to analyse. Dr Jones says: “We’re starting to get emerging signatures. The group of babies who go on to have autism are less likely to recognise and follow another person’s eye gaze, but at the moment findings are only significant at a group level. We’re trying to put data together to get better individual predictions.”

It’s a while before results will show what the early indicators of autism are, but families taking part in the study are already benefitting from the process. Dr Jones says “A lot of families say they really enjoy it; they enjoy spending time with their baby and learning more about them.”

For now, the team remain dedicated to observing these children and measuring their responses in the hope that one day, they can help improve paediatric care by predicting the future.