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Can Autism Be Diagnosed With A Blood Test

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Researchers At The University Of Warwick Discover Link Between Autism And Damage To Proteins In Blood Plasma

How Is Autism Diagnosed?

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Scientists have developed a blood and urine test that can detect autism in children.

Researchers at the University of Warwick said the test, believed to be the first of its kind, could lead to earlier diagnosis of autism spectrum disorders in children who could then be given appropriate treatment much earlier in their lives.

ASDs mainly affect a persons social interaction and communication, with symptoms that can include speech disturbances, repetitive and/or compulsive behaviour, hyperactivity, anxiety, and difficulty adapting to new environments.

As there is a wide range of ASD symptoms, diagnosis can be difficult and uncertain, particularly at the early stages of development.

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Screening And Diagnosis Of Autism Spectrum Disorder

Diagnosing autism spectrum disorder can be difficult because there is no medical test, like a blood test, to diagnose the disorder. Doctors look at the childs developmental history and behavior to make a diagnosis.

ASD can sometimes be detected at 18 months or younger. By age 2, a diagnosis by an experienced professional can be considered very reliable . However, many children do not receive a final diagnosis until much older. Some people are not diagnosed until they are adolescents or adults. This delay means that children with ASD might not get the early help they need.

Early signs of ASD can include, but are not limited to

  • Avoiding eye contact,
  • Having little interest in other children or caretakers,
  • Limited display of language , or
  • Getting upset by minor changes in routine.

CDCs Learn the Signs. Act Early. program provides free resources to help families monitor developmental milestones and recognize signs of developmental concerns, including ASD.

As children with ASD become adolescents and young adults, they might have difficulties developing and maintaining friendships, communicating with peers and adults, or understanding what behaviors are expected in school or on the job. They may also come to the attention of healthcare providers because they have co-occurring conditions such as attention-deficit/hyperactivity disorder, obsessive compulsive disorder, anxiety or depression, or conduct disorder.

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Blood Sample Analysis Showed Key Differences In Several Groups Of Metabolites

Date:
Rensselaer Polytechnic Institute
Summary:
Blood sample analysis showed that, two to five years after they gave birth, mothers of children with autism spectrum disorder had several significantly different metabolite levels compared to mothers of typically developing children.

Blood sample analysis showed that, two to five years after they gave birth, mothers of children with autism spectrum disorder had several significantly different metabolite levels compared to mothers of typically developing children. That’s according to new research recently published in BMC Pediatrics by a multidisciplinary team from Rensselaer Polytechnic Institute, Arizona State University, and the Mayo Clinic.

Researchers analyzed blood samples from 30 mothers whose young children had been diagnosed with ASD and 29 mothers of typically developing children. At the time that the samples were taken, the women’s children were between 2 and 5 years old. The team found differences in several metabolite levels between the two groups of mothers. When examined further, researchers were able to group those differences into five subgroups of correlated metabolites. While the samples analyzed were taken several years after pregnancy, these research findings raise the question of whether or not the differences in metabolites may have been present during pregnancy as well, suggesting further research is needed in this area.

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New Test Can Detect Autism In Children Scientists Say

A New Blood Test For Autism Can Predict The Diagnosis in ...

Blood and urine test, believed to be first of its kind, could lead to earlier diagnosis of autism spectrum disorders

Scientists in Britain say they have developed a blood and urine test that can detect autism in children.

Researchers at the University of Warwick said the test, believed to be the first of its kind, could lead to earlier diagnosis of autism spectrum disorders in children who could then be given appropriate treatment much earlier in their lives.

ASDs mainly affect a persons social interaction and communication, with symptoms that can include speech disturbances, repetitive and/or compulsive behaviour, hyperactivity, anxiety, and difficulty adapting to new environments.

As there is a wide range of ASD symptoms, diagnosis can be difficult and uncertain, particularly at the early stages of development. It is estimated that about one in every 100 people in the UK has ASD, with more boys diagnosed with the condition than girls.

Scientists said their research found a link between ASD and damage to proteins in blood plasma. They found the most reliable of the tests they developed was examining protein in blood plasma, which found children with ASD had higher levels of the oxidation marker dityrosine and certain sugar-modified compounds called advanced glycation end-products .

They also confirmed the previously held belief that mutations of amino acid transporters are a genetic variant associated with ASD.

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What Does An Autism Diagnosis Mean For My Child

An autism diagnosis can result in some beneficial effects, but also comes with associated risks, disadvantages, and contraindications. Once your child is diagnosed with autism, you can expect your doctor to devise a specific treatment plan, comprised of therapy and/or medication to help your child function more easily in daily life. You can also seek specific guidance and support for your child to thrive at school. Despite these benefits, a diagnosis of autism also come with the risk of social stigmatization for the child. There is also a range of physical and mental-health conditions that frequently accompany autism including but not limited to: gastrointestinal problems, epilepsy, ADHD, anxiety, and depression.

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Are We Ready For A Prenatal Screening Test For Autism

Autism was formally described for the first time 71 years ago. The medical notes for “Case one”, a 10-year-old from Mississippi, US, referred to as Donald T, describe a perplexing condition that was different from “anything reported so far”. In 1943, when Donald Triplett was diagnosed, autism was considered extremely rare and treatment consisted of institutionalisation and all too often isolation.

Today we know “autism disorder” as one of a number of autism spectrum disorders alongside Asperger’s syndrome, pervasive developmental disorder and single gene disorders such as Rett syndrome. But of all neuropsychiatric conditions, autism remains one of the least understood.

We now know that genetics almost certainly plays a key role, with researchers finding that if a family has one child with autism, then the likelihood of a future child having the condition is as high as 25%. But to what extent autism is defined by genes remains a mystery.

“Everyone recognises that genes are part of the story but autism isn’t 100% genetic,” says Professor Simon Baron-Cohen of the Autism Research Centre at the University of Cambridge. “Even if you have identical twins who share all their genes, you can find that one has autism and one doesn’t. That means that there must be some non-genetic factors.”

David Cox researches neuropsychiatric disorders at Cambridge University, focusing on drug discovery and diagnosis

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Some Children Dont Show Signs Until After Age 5

Studies show that some children exhibit few or no signs of autism as toddlers. Without apparent signs by 24 months, the typical age for autism screening, your childs condition may not be diagnosed until later. Also, people tend to think that if you werent diagnosed as a child, your autism symptoms are probably due to another health issue.

Tests And Tools For Diagnosing Autism

Autism blood test – Channel 9 News

When diagnosing autism, professionals like paediatricians and psychologists refer to the Diagnostic and statistical manual of mental disorders . DSM-5 uses the term autism spectrum disorder. It lists signs and symptoms and states how many of these must be present to confirm a diagnosis of autism spectrum disorder.

Professionals also use standardised tests or tools to help them diagnose autism.

Screening tools Professionals use screening tools to decide whether your child has enough signs of autism to go onto a full assessment. Some professionals also use these screening tools together with their own professional judgment to make a diagnosis.

Screening tools include:

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Why The New Blood Test For Autism Isnt The End All Be All

Taking a closer look at a new autism research study that made popular news.

What we know

Research is a crucial and exciting topic. From areas pertaining to health and fitness, to drug trials and therapy treatments, there is a lot of new information all of the time. This is especially true for autism spectrum disorder . 1 in 68 children will receive a diagnosis of autism. In recent years, scientists have done studies about the best treatments for children with ASD. Studies have also been done about the genetic component of ASD. We know that in about 30-35% of autism cases, there is a genetic cause, such as, Fragile X syndrome. In the other 65-70% of cases, the cause is generally unknown and thought to be from a combination of environment and genetics. For this 65-70% of autism cases, there are lots of studies looking into narrowing down the cause. Typically these studies involve blood tests.

Why a blood test would be a big deal

This Study

So yes, a blood test that could detect ASD would be great, and the science of this recent study was done very well. The researchers looked closely at the proteins found in childrens blood. They found a handful of very specific differences in the plasma of the children diagnosed with ASDs blood compared to those without autism.

What we still need

Reference

Researchers Claim 100% Accuracy Predicting Autism Risk Factors In Mom’s Blood

For nearly one in five children diagnosed with autism spectrum disorder , the origins of their distinct mix of behavioural characteristics can be traced back to an attack carried out by their mother’s immune system on their developing brain.

With help from a program designed to hunt for subtle patterns hidden in complex mixes of data, researchers have come up with a test for the antibodies responsible for the misguided assault, allowing them to predict the risk of a child being born with autism with unprecedented confidence.

Scientists from the University of California, Davis, and Stanford University in the US analysed plasma taken from 450 mothers with children diagnosed with ASD, and from 342 mothers who had children without a diagnosis.

The results were used to develop what’s known as an enzyme-linked, immunosorbent assay a diagnostic method of identifying the presence of materials in a solution by way of specialised antibodies embedded in the wall of a container.

In this case, the targets were eight proteins, previously identified as primary suspects in an immune response waged by the mother on her foetus’s developing nervous system.

Once believed to be ‘immune privileged’, sitting beyond the reach of antibodies and protective white cells, it’s now clear that a growing brain can be affected by maternal antibodies during gestation.

The ELISA developed by the study was validated in identifying the presence of antibody combinations with 100 percent accuracy.

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First Physiological Test For Autism Proves High Accuracy In Second Trial

Date:
Rensselaer Polytechnic Institute
Summary:
One year after researchers published their work on a physiological test for autism, a follow-up study confirms its exceptional success in assessing whether a child is on the autism spectrum.

One year after researchers published their work on a physiological test for autism, a follow-up study confirms its exceptional success in assessing whether a child is on the autism spectrum. A physiological test that supports a clinicians diagnostic process has the potential to lower the age at which children are diagnosed, leading to earlier treatment. Results of the study, which uses an algorithm to predict if a child has autism spectrum disorder based on metabolites in a blood sample, published online today, appear in the June edition of Bioengineering & Translational Medicine.

We looked at groups of children with ASD independent from our previous study and had similar success. We are able to predict with 88 percent accuracy whether children have autism, said Juergen Hahn, lead author, systems biologist, professor, head of the Rensselaer Polytechnic Institute Department of Biomedical Engineering, and member of the Rensselaer Center for Biotechnology and Interdisciplinary Studies . This is extremely promising.

Rather than search for a sole indicator of ASD, the approach Hahn developed uses big data techniques to search for patterns in metabolites relevant to two connected cellular pathways with suspected links to ASD.

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Can Autism Be Treated

Now depression can be diagnosed by a blood test

There is no cure for autism spectrum disorder, and there’s currently no medication to treat it. But some medicines can help with related symptoms like depression, seizures, insomnia, and trouble focusing. Studies have shown that medication is most effective when it’s combined with behavioral therapies.

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At The Present Time There Is No Test For Pregnant Or Prospective Mothers That Can Predict The Probability Of A Child Be Diagnosed With Autism

However, recent estimates indicate that if a mother has previously had a child with autism, the risk of having a second child with autism is approximately 18.7 percent. This compares to the risk of autism in the general population of about 1.7 percent.

Gene sequencing can identify mutations linked to autism even if a childs birth and other types of analyses already can detect fetal mutations. Some detect large DNA segments that are swapped between chromosomes, and others can pick up on missing or duplicated copies of DNA fragments.

There are new studies taking place that are among the first to scan for mutations across the entire fetal exome. Exome is the term used to refer to all the exons in the genome collectively.

However, these studies are initiating a number of ethical questions, including whether parents might choose to terminate a pregnancy based on the results. Researchers note that most of the mutations they found pose serious health risks, which could be treated at birth or in utero.

There are misconceptions that these tests are always done to decide whether or not to end a pregnancy. But clinicians stress that it is important to give information to families and physicians so they can plan for the whole pregnancy and the birth, and best identify the familys needs and the babys needs.

Will The Test Lead To Earlier Asd Diagnosis

Dr. Rabbani comments on the significance of the findings, saying, Our discovery could lead to earlier diagnosis and intervention. We hope the tests will also reveal new causative factors.

With further testing we may reveal specific plasma and urinary profiles or fingerprints of compounds with damaging modifications.

Dr. Naila Rabbani

This may help us improve the diagnosis of ASD, she adds, and point the way to new causes of ASD.

But Dr. Max Davie an assistant officer for health promotion at the Royal College of Paediatrics and Child Health in the U.K. has expressed skepticism about such a test, saying, This is a promising area, however this is a very long way indeed from a test for autism.’

He adds, The analysis was derived from children whose ages averaged 78, so there is no data to indicate that very young children will have the same metabolic pattern and that the results found would be reproducible in infants.

While we applaud the arrival of this interesting area of research, says Dr. Davie, it is important that it is not adopted with too much enthusiasm. He cautions that applying the test to a large population may produce a large number of false positives, causing unnecessary worry.

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Where Did The Story Come From

The study was carried out by researchers from the University of Warwick, the University of Birmingham and several research institutions in Italy. It was published in the peer-reviewed journal Molecular Autism and is free to read online.

It was funded by the Warwick Impact Fund, the Fondazione del Monte di Bologna e Ravenna, and the Fondazione Nando Peretti, Rome.

Several UK newspapers covered the story, with varying degrees of accuracy. The Mail Online claimed that a blood test diagnosing autism in children could be available within a year when neither the researchers nor any other experts had said this was possible. It also described the test as 90% accurate, without explaining what this means .

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Working With An Autism Specialist

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Screeners are often given by pediatricians, but if there are red flags that indicate further evaluation would be appropriate, it is best to work with someone who has both experience and expertise in diagnosing children on the autism spectrum. Youre not going to go to a doctor for a heart transplant whos done two or three, right? says Dr. Epstein. Its the same with autism. You want someone whos seen hundreds of kids with all different stripes typical children, intellectually disabled children, autistic children and knows what to look for. Academic and medical centers are often good places to find experienced diagnosticians.

Parents can ask some questions to try to gauge a potential providers experience. For example:

  • Whats your training and experience?
  • Have you had specific training in assessment of people on the spectrum? How much?
  • What do you plan to do as part of this assessment?
  • Will you be contacting my childs teacher or pediatrician?

Try to find a practitioner who is able to answer your questions readily and makes you feel comfortable. A clinician who takes your concerns seriously and is experienced in assessing autism spectrum disorder is essential to getting an accurate diagnosis.

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