UK research may lead to autism diagnosis by 6 months of age

From The Telegraph in the UK:

Diagnosis of autism has always been difficult and often the condition remains unrecognised until too late for treatment to have a maximum effect.

But now researchers at Imperial College London have discovered a potential way of spotting the disorder that they hope could ultimately lead to a test for children as young as six months old.

Children with autism spectrum disorder (ASD) have a particular makeup of gut microbes and the researchers have found that this can be detected with a simple urine test.

That would mean that intensive behavioural and social treatment could begin before the disease has caused any permanent psychological damage.

Professor Jeremy Nicholson, the author of the study, said: "Children with autism have very unusual gut microbes which we can test for before the full blown symptoms of the disease come through.

"If that is the case then it might become a preventable disease."

It is estimated that around one in 100 people have autism, meaning there are around 500,000 in Britain.

The condition covers a wide spectrum of disorders with cases ranging from relatively mild problems with social interaction to more severe difficulties in behaviour such as not speaking or copying, rigid routines and social isolation.

While the causes of the condition remain a mystery, early and intensive treatment is known to help alleviate the symptoms.

The problem is that diagnosis can be difficult and often relies on waiting for the symptoms to develop by which time a lot of damage has been done.

At present, children are assessed for autism through a lengthy process involving a range of tests that explore the child's social interaction, communication and imaginative skills.

Early intervention can greatly improve the progress of children with autism but it is currently difficult to establish a firm diagnosis until children begin speaking.

The latest breakthrough shows that it is possible to distinguish between autistic and non-autistic children by looking at the by-products of gut bacteria and the body's digestive processes in the children's urine.

Prof Nicholson, who worked with the University of South Australia, said he hoped that the test, which could cost as little as £5, could one day be used in children as young as six months old.

Most children are not diagnosed until they are at least two.

The researchers are keen to investigate the link between the learning difficulties and the gut microbes further.

If such a link was established this might lead to "probiotic" treatments or cures.

The researchers reached their conclusions by using a Nuclear Magnetic Resonance Spectroscopy which is able to analyse the make-up of chemicals.

They used the machine on samples three groups of children aged between three and nine – 39 children who had previously been diagnosed with autism, 28 non-autistic siblings of children with autism, and 34 children who did not have autism and did not have an autistic sibling.

They found that each of the three groups had a distinct chemical fingerprint. Non-autistic children with autistic siblings had a different chemical fingerprint than those without any autistic siblings, and autistic children had a different chemical fingerprint than the other two groups.

Now they want to test the technique on a larger group of younger children in the next two years with the idea of having it available within five years for full medical approval in five.

The findings were published in the journal of Proteome Research.

Deepa Korea, Chief Executive, Research Autism said, "We welcome any scientifically robust research, which has been subject to the highest research methodology, that advances the improvement of early diagnosis of autism spectrum conditions, so that children can receive appropriate support from as early an age as possible.

"We recognise that more work needs to be carried out in this area."

A National Autistic Society spokesman said "Studies which consider differences in urine samples are interesting, but before these findings could be applied more widely, they would need to be tested and scrutinised on a much broader scale.

"This research appears to focus specifically on children with gastro-intestinal (GI) disorders as well as autism.

"Whilst some children with autism do have additional gut problems, this is not true for everyone, so the differences observed in this study, might not be representative of all people with autism.

"The most important thing that children with autism the right help and support as early as possible."