What is autism?
Autism is a lifelong condition that belongs to a group of neurodevelopmental disabilities known as autism spectrum disorders (ASDs), which also includes Aspergers syndrome and pervasive developmental disorder not otherwise specified (PDD‐NOS) (Lai, Betancur 1). The word ‘spectrum’ describes the range of difficulties people with an ASD may experience and the degree to which they may be affected. The main areas of difficulty are in the interaction and communication with other people and in restricted and/or repetitive behaviours. (Betancur, Yu, Vorstman JA, Sebat J) Individuals with ASD may also experience learning difficulties or may have intellectual impairment (Betancur).
Because of the very different ways ASDs is manifested it is hard to make an estimation of how common it is. (Betancur, Fombonne E. J) It is however more common for boys to have ASDs than girls. (Lai, Betancur 1)
The ASD-like symptoms usually appear around the age of 3 (Sebat et al) and can change over time as the person is exposed to new social situations and changing circumstances in life (Anderson, Smith).
Some people with ASD may be able to live relatively unproblematic lives, while others may need some more support with everyday challenges.
What are the genetic causes of autism?
There are very few studies that link the cause of autism to one single gene (Amir RE, European). Instead, most studies show that several genes seem to be involved, which is also why the symptoms can be so widely different (Sebat et al, Yu et al, Vorstman JA, et al, Betancur).
Can autism run in the family?
There are some rare cases of familial autism where scientist have been able to identify a few genes that could be linked to the autism syndromic features found in the family members. In some of these families it is enough for the affected child to inherit just one mutated gene from one of the parents in order to get the autism-like symptoms. In other families the affected child needs to have inherited two mutated genes, one from each parent, to get the autism syndromic features. In these cases the parents may be unaffected themselves, but are carriers of the mutated gene. (Yu, T.W et al, Betancur)
How is testing performed at EasyDNA?
In our autism screening panel we analyse 236 different genes that have been shown to be associated with ASD or autistic behaviours.
This screening test requires a medical blood draw from which DNA is extracted. Our testing is performed using Massive Parallel Sequencing (Next Generation Sequencing), which allows sensitive mutation detection and analysis of the coding regions of the 236 different genes, including exon-intron boundaries.
This screening test can aid in diagnosis of patients with suspected autism spectrum disorders and serve as a tool when deciding on suitable ongoing support.
For many children and adults, the everyday life can be significantly improved by a diagnosis and appropriate specialist support (Lai).
The Autism Panel screening test requires genetic counselling from a certified professional and must be handled by a Doctor. Upon confirmation of your order we will send you an email with the Referral forms your doctor or counsellor will complete and return (Fax) to us for approval before your sample collection kit is sent out. The results will be sent directly to the doctor or counsellor who will then discuss them with you.
If you are a family member and/or would like to talk to a genetic counsellor, please contact our customer care team and they will help you to find a qualified professional for the test you are considering.
Your confirmation email will also include a recommendation for one of our affiliated Pathology Collection Centres close to you. We will arrange your appointment and book the courier to collect your samples after your appointment. Please note, EasyDNA do not cover the cost of your sample collection by the pathology.
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1 Betancur C. Etiological heterogeneity in autism spectrum disorders: more than 100 genetic and genomic disorders and still counting. Brain Res. 2011 Mar 22;1380:42-77. doi: 10.1016/j.brainres.2010.11.078. Epub 2010 Dec 1. Vorstman JA
2 Betancur , The Neuroscience of Autism Spectrum Disorders Edited by Joseph D. Buxbaum & Patrick R. Hof Academic Press, Oxford Chapter 2.1 Etiological heterogeneity in autism spectrum disorders: role of rare variants
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