Simple urine test could diagnose autism
18 June 2010
Children with autism have a different chemical fingerprint in
their urine than non-autistic children, according to research at
Imperial College London and the University of South Australia [1].
The findings could ultimately lead to a simple urine test to
determine whether or not a young child has autism.
Autism affects an estimated one in every 100 people in the UK.
People with autism have a range of different symptoms, but they
commonly experience problems with communication and social skills,
such as understanding other people’s emotions and making
conversation and eye contact.
People with autism are also known to suffer from gastrointestinal
disorders and they have a different makeup of bacteria in their guts
from non-autistic people.
Today’s research 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 metabolic processes in the children’s
urine. The exact biological significance of gastrointestinal
disorders in the development of autism is unknown.
The distinctive urinary metabolic fingerprint for autism
identified in today’s study could form the basis of a non-invasive
test that might help diagnose autism earlier. This would enable
autistic children to receive assistance, such as advanced
behavioural therapy, earlier in their development than is currently
possible.
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
when children are under 18 months of age, although it is likely that
changes may occur much earlier than this.
The researchers suggest that their new understanding of the
makeup of bacteria in autistic children’s guts could also help
scientists to develop treatments to tackle autistic people’s
gastrointestinal problems.
Professor Jeremy Nicholson, the corresponding author of the
study, who is the Head of the Department of Surgery and Cancer at
Imperial College London, said: “Autism is a condition that affects a
person’s social skills, so at first it might seem strange that
there’s a relationship between autism and what’s happening in
someone’s gut.
"However, your metabolism and the makeup of your gut bacteria
reflect all sorts of things, including your lifestyle and your
genes. Autism affects many different parts of a person’s system and
our study shows that you can see how it disrupts their system by
looking at their metabolism and their gut bacteria.
“We hope our findings might be the first step towards creating a
simple urine test to diagnose autism at a really young age, although
this may be a long way off — such a test could take years to
develop. We know that giving therapy to children with autism when
they are very young can make a huge difference to their progress. A
urine test might enable professionals to quickly identify children
with autism and help them early on.”
The researchers are now keen to investigate whether metabolic
differences in people with autism are related to the causes of the
condition or are a consequence of its progression.
The researchers reached their conclusions by using H NMR
Spectroscopy to analyse the urine of three groups of children aged
between 3 and 9: 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 who 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.
Reference
Nicholson J, et al. Urinary Metabolic
Phenotyping Differentiates Children with Autism from Their
Unaffected Siblings and Age-Matched Controls. Journal of
Proteome Research, published in print 4 June 2010.