Autism interrupted? Baby sibs study holds hope for reversing behaviors before they become embedded

Sherry Cecil

Just how early can the symptoms of autism be recognized? Does intervention work with children as young as 12 months? Could it be the key to stopping this complex neurodevelopmental disorder in its tracks?

Researchers in Canada are working to answer these and related questions as part of a groundbreaking, multi-site study that focuses on those who are considered at high risk of developing autism – the infant siblings of children with autism.

We know that genetics play a role in autism – studies show a recurrence rate of between 5 and 10% in families with one autistic child, a rate about 50 times higher than the general population.

“What we wanted to do was take a high risk population – these baby siblings – and follow them over time to see if we could learn more about their early development and the onset of autism,” says Lonnie Zwaigenbaum, a developmental pediatrician. Located at McMaster University in Hamilton, Ontario, he is one of two principal investigators leading the study.

“Our goal is to identify behavioral and biological markers for autism that will help clinicians make an earlier and more definitive diagnosis.”

With some 200 families in three cities – Toronto, Hamilton and Halifax – now involved, the study has grown to be the largest of its kind in the world. And it has delivered some important preliminary results: by 12 months – and sometimes as early as six months – of age, children who will later develop autism can show many of the symptoms seen in older children with autism. These include lack of social smiling, lack of response to name calling, abnormal eye gaze and visual tracking, decreased social responses and sensory overreactivity.

More importantly, the researchers have found these atypical patterns of development can be targeted by interventions beginning with children as young as 12 months.

Jessica Brian, a clinical developmental psychologist at Toronto’s Hospital for Sick Children who spent more than a year designing and refining the interventions, says the goal is to work with the families on strategies they can use at home. These strategies focus on increasing eye contact,building communication skills, social turn taking and imitation through social games, action songs and other play appropriate to that age level.

Many of the children have shown improvements, some of them remarkably so. “One 16-month-old clearly had no directed communication skills when we first saw him,” says Dr. Brian. “His only means of letting his mother know he wanted his bottle was to stand in the middle of the room and scream, which he did even when the bottle was within his reach.”

She focused on getting him to look at the bottle by waving it back and forth, shaking it up and down or putting it on the table in front of him. Every time he looked at it, he was given the bottle.

“An hour later he had stopped crying, and he was looking at the bottle a lot more,” says Dr. Brian. “He had learned something that children with autism have great difficulty learning – that there are things they can do to control their environment.”

Dr. Brian credits a new observational scale, the Autism Observation Scale for Infants (AOSI), designed by the research team, for much of the success of this project. Until now, there has been no standardized instrument specifically designed to measure autism-related behaviors in young infants. The Checklist for Autism in Toddlers (CHAT) is not appropriate for infants younger than 18 months, and the Autism Diagnostic Observation Scale (ADOS) is incapable of measuring small changes.

The AOSI uses 18 specific risk markers for autism developed from retrospective studies, videotape analyses, case reports and the collective clinical experience of the research team. These markers can be rated reliably within a brief clinical assessment, and the observations made at 12 months can be used to help predict which children are at highest risk of autism.

“What this instrument shows us”, says Dr. Zwaigenbaum, “is that you can pick up on the first signs of autism at a very early age – and maybe starting treatment at this early stage of development will make the difference for these children.”

Could early intervention with young infants prevent the onset of autism in some of these children? Dr. Brian is optimistic. “Our hope is that with early intervention we may be able to prevent full-blown autism in some children. At the very least, we think we can create new experiences that move the development of these children in a more typical direction.”