A large-scale research project into early signs of autism and ADHD is long overdue

TDr Emily Joneshis post was contributed by Dr Emily Jones, a researcher into early markers of autism at the Babylab at Birkbeck and a member of the team which have just launched the Studying Autism and ADHD Risk in Siblings (STAARS) project.

Over 1.4 million people in the UK live with autism or attention-deficit hyperactivity disorder (ADHD). Autism makes it difficult to communicate and interact with other people, and ADHD affects attention and concentration. Autism and ADHD are lifelong disorders that can have a huge impact on people’s lives, affecting their ability to work, live independently or start a family.

Although parents often have concerns about their child from early on, autism isn’t often identified before toddlerhood, and children with ADHD often don’t receive a diagnosis before they reach school age.  Recently there was wide-spread media coverage when singer Susan Boyle revealed she had been diagnosed with Asperger’s syndrome, a form of autism, at the age of 52. She spoke candidly about her relief at receiving a diagnosis which enabled her to make sense of the symptoms she had experienced throughout her life and which had caused her difficulties as a child. Although diagnostic services for autism and ADHD have undoubtedly improved since Boyle was a child, families still speak of the struggles they encounter in trying to access help for their child, a process that can take years and put an unbearable strain on family life.

Providing support for learning in early development can make a real difference to children with autism or ADHD, and the earlier a child receives this support, the more effective it is. Delays in accessing services can make families feel that time is running out for their child. But families can only access services after receiving a diagnosis – which means that being finding ways to identify signs of autism or ADHD in babies, rather than waiting for symptoms to develop in toddlerhood, would make a big difference.

Today (Thursday 23 January), my team at the Babylab at Birkbeck, together with similar teams from across Europe, is launching a new study of infants with older siblings with autism or ADHD. For infants with an older sibling with autism or ADHD, the chances of also having one of the conditions may climb to 20%. Starting in the very first months of life, our scientists will use cutting-edge techniques to study brain and behavioral development in infancy and through to toddlerhood. By looking at what is happening in the brains of infants who later receive an autism or ADHD diagnosis we hope to find the earliest signs of these conditions – before the children go on to develop the behaviours which can be very hard to ‘unlearn’.

We are looking for families with a baby (less than six months old) and an older child with autism or ADHD to help us learn more about the early signs of the conditions. Our work is supported by the UK Medical Research Council, the European Union, and major UK charities like Autistica, and our scientific partners are based in Sweden, Holland, Poland, Belgium and the US. It’s the first time that a study of this nature has been conducted on such a large scale, but by joining together, we believe that we can make the scientific advances that will drive change for the lives of individuals with autism and ADHD and their families.

Listen to the latest Birkbeck Voices podcast, which is about the new STAARS study.

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Genes Environment Lifespan laboratory: Recent autism research

Dr Angelica Ronald, Department of Psychological Sciences, has been awarded the 2012 Spearman Medal for her work on autism spectrum disorders.

Autism is a neurodevelopmental condition that begins in early childhood. It is characterised by three main symptoms.

  1. Problems with social interaction: this usually involves a general tendency of not being interested in interacting with other people, not having many friends and not being interested in social input.
  2. Communication problems: these can range from having no language at all to having reasonable language skills but making unusual errors in communication style and not being able to maintain a two-way conversation.
  3. Restrictive, repetitive behaviours and interests.

For a diagnosis of autism to be made, all three symptoms must be present. Autism is usually diagnosed from the age of two years or older.

Fractionable Autism Triad Hypothesis

One of the key areas of Dr Ronald’s research has been the development of the Fractionable Autism Triad Hypothesis.  This suggests that, contrary to previous thinking, autism may not be caused by a single set of genes causing the whole condition, but that each symptom of the condition may be caused by largely different genetic and environmental risk factors.

Dr Ronald explains: “Nearly all of the previous research has looked at genetic and environmental risk factors with the assumption that they might be able to explain autism as a whole. Nobody was looking at what causes the individual symptoms. We hypothesised that a person with autism could have inherited three (or more) different sets of risk factors. There is now growing evidence that the genes that influence risk for social difficulties are largely different to those that influence risk for communications problems or restrictive repetitive behaviours.”

In order to find evidence supporting the Fractionable Autism Triad Hypothesis, Dr Ronald has conducted large-scale general population twin studies and molecular genetic analyses. She has found that many children display some symptoms of autism but don’t have a diagnosis of autism because they do not display the entire set of symptoms. A child may have just as many social impairments as a child with autism, but if they do not display the communications difficulties or restricted repetitive behaviours they will not be diagnosed with autism. Understanding the different genetic and environmental causes of the different characteristics displayed by children with autism would enable researchers to tailor interventions and treatments more effectively.

Multiple Psychiatric Diagnoses

It is thought that up to forty percent of children diagnosed with autism also have Attention Deficit Hyperactivity Disorder (ADHD), and a large proportion also have an anxiety disorder. Dr Ronald comments: “With psychiatric conditions it is almost the rule, rather than the exception, that there will be more than one condition diagnosed. We are looking at what it is that causes these multiple diagnoses in children with autism.”

The team are exploring three hypotheses.  First, they are testing whether the same genetic risk factors play a role in causing autism and ADHD and anxiety disorders.  Second, they are investigating whether these conditions may co-occur in the same individual in part due to similar environmental risk factors involved across conditions. For example, autism and ADHD are known both to be linked to complications during pregnancy and birth, so it could be environmental risk factors that increase the risk of a child having multiple conditions.  Finally, they are also exploring whether additional psychiatric conditions occur in children with autism as a result of the challenging symptoms involved. For example, if a child with autism experiences a lot of negative responses, they may develop anxiety because of their autism, rather than due to shared genetic or environmental underpinnings per se.

This research will lead to a better understanding of the causes of, and relationships between, multiple psychiatric conditions.

Genes, Environment, Lifespan

The aim of Dr Ronald’s research is to improve the understanding of the causes of autism and other psychiatric conditions. A better understanding of autism’s causes has a variety of implications. Once we understand the biological basis of a condition, more targeted treatments can be developed. It also means that autism could potentially be detected earlier, and intervention and treatment could begin earlier on, leading to better quality of life for the child affected and their family.

>> Find out more about Dr Ronald’s work at the Genes Environment Lifespan (GEL) Laboratory.

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