What is ASD and How Is It Diagnosed?   

By Gabriele Kurpyte

Autism Spectrum Disorder (ASD) is a range of conditions that develop during early childhood and present challenges with social skills, repetitive behaviour, speech and non-verbal communication. The way it presents in sufferers can vary greatly, hence it is referred to as a “spectrum disorder”.

In the UK, 1 in 100 suffer from the disorder yet the cause still remains unknown. It appears to be more common in boys than girls and researchers believe that there are certain genes that may be inherited making individuals more vulnerable to developing ASD. However, so far no genes  linked to ASD have been identified. Others believe that there are certain environmental triggers that result in the development of ASD but there is no conclusive evidence for this theory either. Due to the lack of knowledge regarding the cause of the disease, there is also no cure for it but diagnosis of the disease is important so that the symptoms can be more easily managed and support can be provided for the individual and their families.

It can be diagnosed as early as 18 months but it is most apparent between the ages of two and three. Usually diagnosis involves carrying out an assessment by a specialist, which rules out any possibility of physical and mental conditions that may cause the behavioural patterns that the child displays. On some occasions, an in-depth history of the child’s development and behaviour is drawn up and they are asked to undertake certain activities in order to observe if the child exhibits behaviours commonly associated with ASD.

Up until now, the only method of diagnosing ASD was purely behavioural but a study carried out by Juergen Hahn and Daniel Howsmon was published in the journal PLOS Computational Biology and it discussed how their team looked at the blood samples of a group of 159 children between the ages of three and ten of which 83 had autism and 79 were not affected by the disorder.  The team then analysed the levels of metabolite from the folate dependent one-carbon (FOCM) metabolism and transsulfuration (TS) reactions; these substances were previously shown to be altered in people with an increased risk of ASD. This method of diagnosis showed huge promise as it was 97.6% accurate in diagnosing children with ASD and 96.1% successful in identifying children who were not affected by the disease. However, even with these results, the researchers suggested that more research must be carried out to confirm these results. This shows how much remains to be researched in order to advance our understanding of ASD.

References: 

1. https://www.autismspeaks.org/what-autism

2. http://www.nhs.uk/Conditions/Autistic-spectrum-disorder/Pages/Introduction.aspx

3. http://www.medicalnewstoday.com/articles/316375.php

4. http://www.autism.org.uk/about/what-is/asd.aspx

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