ASDs https://prezi.

com/p/opszsfpwn3d7/
What is Autism? (examples of autism disorders): Autism is not a
single condition – it may have been described this way in the past,
but now we know that it is actually a spectrum of disorders, and
it’s been given the name “ASD’s”. If you happen to know anyone
with autism, you might see that they experience difficulties with
social interaction and just communicating in general, but different
types of ASDs have different severities and they really vary from
each other. We have a colourful image and this represents how
wide of a range ASD’s can be.

‘The epidemic of autism’ - Do we all have autism? Or

to rephrase this, will we all have autism in the future?
Today, it is said that 1 in 160 children will be
diagnosed with autism. So, looking at this graph, at a
first glance, we realise a really alarming thing, as we
see that this autism prevalence has been increasing.
However, we have to consider that compared to the
past, we can now label individuals with autism, and
by simply giving
people that diagnosis
when there wasn’t a
term for it before,
more individuals are
being diagnosed. And
we’ve also widened
our definition of autism overtime to include a wider range of
disorders, which might account for the increased prevalence.

http://www.who.int/news-room/fact-sheets/detail/autism-spectrum-disorders
What are the causes: MEDIA HEADLINES: https://www.youtube.com/watch?v=f1wYybAMgLM
VACCINATIONS – Largely reported on the news, but there has been no substantial scientific evidence
to prove this basis (And fun fact! The scientific researcher who first proposed this had his research
proven invalid, and his scientific licence revoked)
Just as autism is a spectrum, there’s a
spectrum of etiologies – a range of causes.

QUIZ
However, there are also genetic factors that can make a person more likely to develop ASD.

One thing we still don’t understand is the difference we see between males and females, where
males are affected in a 4:1 ratio to females. (Some studies argue it’s closer to a 3:1 ratio).

Looking at this incident ratio, it suggests that the gene linked to ASD is present on the X
chromosome, and as males only have one of these, it makes them hypersensitive to mutations.
However, the single genes that scientists have been able to isolate so far have not been found on the
X chromosome –scientists are relatively confident that this has nothing to do with genes on the X
chromosome.

Is autism genetically inherited? We can

look at the concordance rate – if one
sibling has autism, what is the probability
that another sibling will have autism. And
we can look at 3 types of sibling:

- Identical twins (share 100% of

the same genetic information &
the same intrauterine environment – i.e. the womb)
- Fraternal twins (share 50% of their genetic info),
- Regular siblings (share 50% of their genetic info, but did not share the womb together)
From looking at the concordance ratios, it has been found that identical twins have a concordance
rate of 77% - not 100%! So, we can see that genes don’t count for all the risk for autism, but they still
do account for a lot – when we look at the concordance rate between fraternal twins and siblings,
the difference between the concordance rate suggest that there are exposures for fraternal twins
that are not experienced as commonly with siblings alone.

Autism can be caused by one individual gene, however in other individuals it’s actually a
combination of genes, along with the developmental process that determines their risk for autism.

In some individuals, they can have autism for a genetic reason but not because of autism running in
the family. And this is because certain individuals can have genetic mutations that are not passed
down from the mother or father, but are ‘de novo mutations’ in the egg or sperm at the time of
conception.

De novo mutations are basically genes that are mutated in germ (or sex) cells, and they are not
found in the first generation, but are in the second (so they are not passed down by generation).
They are spontaneously occurring in the male germline – these occur during spermatogenial stem
cell divisions and they spread onto the successive clones of the spermatocytes.

Looking at the quizzes

MOTHER:
- Maternal age increase is associated with heightened risks for the offspring (increased
maternal age at childbearing is a risk factor for errors of chromosome segregation)
- Age of mother:
- Autism rates are 18% higher among children born to teen moms than those in their 20s
- Women over 40 have a 50% greater risk of having a child with an ASD than that of women
between 25-29 – magnified by not taking prenatal vitamins, high stress during pregnancy

FATHER:
- However, new mutations will occur more extensively in sperm cells as the paternal age
increases. Men transmit a much higher number of ‘de novo’ mutations to their children
than women – nearly 4 times as many.
- Autism rates were 66% higher among children born to dads 50+ and 28% higher among
males in their 40s, compared to those in their 20s.
- The age of the father is the dominant factor.
o Over 2 additional mutations every year
o Paternal mutations doubling every 16.5 years

Autism rates rose higher when both parents were older – which would be expected – however, they
also rose with windened gaps between two parents’ ages. These rates are the highest between
males aged 35-44 who had partners 10+ years younger. Conversely, rates rose when females were
30+ and their partners were 10+ years younger.

These results suggest that multiple mechanisms are contributing to the association between
parental age and ASD risk – i.e. younger parents (teen moms) may have the stress of financial
burden, education, judgement etc that can lead to stress and effect their welfare

https://www.nature.com/articles/mp201570
 Autism is a condition defined by symptoms, not a root cause!- It’s a degree on a spectrum
between the neurotypical and those with difficulties integrating in society.

GAME: https://docs.google.com/presentation/d/1NQ1Y6wqiF5R8g_VIYS-nFLcgu_S_Xuv1mUofHaW9lRw/edit#slide=id.p
It's important to note, however, that these are risk factors for autism, not causes — there's a
correlation between these factors and autism, but researchers aren't quite sure of the
mechanism that might make the disorder more likely to develop.

Sex-linked - https://www.spectrumnews.org/news/genetics-x-chromosome-disorder-linked-
to-autism/

CNV’s - https://www.spectrumnews.org/news/genetics-family-pedigrees-suggest-autism-
gene-candidates/

1. Lancet. 2009 November 7; 374(9701): 1627–1638. "Autism"

http://www.ncbi.nlm.nih.gov/pmc/artic... 2. Front Hum Neurosci. 2010 Dec 21;4:224. "The Intense
World Theory – a unifying theory of the neurobiology of autism"
http://www.ncbi.nlm.nih.gov/pmc/artic... 3. J Neurodev Disord. 2012; 4(1): 7. "Infant siblings and
the investigation of autism risk factors" http://www.ncbi.nlm.nih.gov/pmc/artic...