Category: Autism

New study may help explain why autism is more common in males.

Children who later develop autism are exposed to increased levels of steroid hormones in the womb, research from the UK and Denmark shows.

The study took advantage of amniotic fluid in a Danish biobank from 19,500 women who had chosen to have a routine amniocentesis at 15-16 weeks to screen for developmental problems (Baron-Cohen et al., 2014).

The samples were matched to 128 males who later went on to develop autism.

Amongst those who developed autism, there were elevated levels of four key ‘sex steroids’ in the amniotic fluid: progesterone, 17α-hydroxy-progesterone, androstenedione and testosterone.

The study’s lead author, autism expert Professor Baron-Cohen, explained the study’s results:

“This is one of the earliest non-genetic biomarkers that has been identified in children who go on to develop autism.

We previously knew that elevated prenatal testosterone is associated with slower social and language development, better attention to detail, and more autistic traits.

Now, for the first time, we have also shown that these steroid hormones are elevated in children clinically diagnosed with autism.

Because some of these hormones are produced in much higher quantities in males than in females, this may help us explain why autism is more common in males.”

One of the study’s other senior authors, Dr Michael Lombardo, said:

“Our discovery here meshes nicely with other recent findings that highlight the prenatal period around 15 weeks gestation as a key period when important genetic risk mechanisms for autism are working together to be expressed in the developing brain.”

However, Professor Baron-Cohen cautioned that the study did not suggest a quick fix:

“These results should not be taken as a reason to jump to steroid hormone blockers as a treatment as this could have unwanted side effects and may have little to no effect in changing the potentially permanent effects that fetal steroid hormones exert during the early foundational stages of brain development.”

The value of the new results lies in identifying key biological mechanisms during fetal development that could play important roles in atypical brain development in autism.”

 

Signs of autism include no social pointing, no babbling by 12 months, no words by sixteen months and no warm or happy facial expressions.

Autism spectrum disorder (ASD) is a developmental problem that affects people’s ability to communicate, behave and interact with others.

There are around 70 million people around the world who are autistic or show signs of autism.

Prevalence in the US is around 1 in 100 children, maybe more.

The number of people diagnosed with autism around the world has risen massively (Rødgaard et al., 2019).

In the last fifty years, the prevalence of autism has multiplied by an astonishing 40 times, with many more showing signs of autism.

Males are about four times more likely to have signs of autism than females.

There’s huge variability in the disorder.

That’s why it’s now known as an autism spectrum –- a very big spectrum.

The ‘spectrum’ includes Asperger’s syndrome, childhood disintegrative disorder and a host of other alternative names and classifications.

Five early warning signs of autism

Autism is not usually diagnosed before two-years-old.

However, the subtle warning signs of autism can be seen even earlier — perhaps before the age of 18 months.

The earlier a child is diagnosed with autism, the quicker the treatments can begin.

The five early warning signs of autism are:

1. More limited and repetitive play,
2. less name response,
3. less social smiling,
4. less babbling,
5. limited gesture use.

Before one-year-old it is difficult to spot any of these signs of austism.

But between 12 and 18-months, it is possible to pick up on these signs of autism.

Below are some specific signs of autism to look for in a child that may be at risk.

Some ‘red flag’ signs of autism are indicated below — any of these mean a child needs to be medically evaluated.

• No warm or happy facial expressions.
• No social pointing, showing and reaching by 12-months-old (red flag).
• No babbling by 12-months-old (red flag).
• No sharing of smiles, sounds and other facial expressions.
• No words by 16 months (red flag).
• No two-word phrases by 24 months (red flag).
• Poor eye contact.
• Stops responding to their name between 6 and 12 months.
• Not interested in attracting their parents’ attention.
• Little pointing or waving goodbye and hello.
• Unusual or repetitive body movements, such as repeatedly stiffening legs, arms and hands.

Problems with language and social skills are central to autism, so any concerns around these should be acted on.

Signs of autism in childhood

Naturally, older children tend to display more complex signs of autism.

Here are seven symptoms or signs of autism in older children:

1. Difficulty reading other people’s emotions.
2. Impaired theory of mind: the ability to understand other people’s intentions.
3. Lack of cognitive flexibility: finding it hard to switch from one task to another.
4. Difficulty planning and sequencing activities.
5. Problems with inhibition.
6. Being overly sensitive to sounds, noises and other sensory stimulation.
7. Enlarged brain volume.

Gut problems in children with autism

Gut problems are often seen in children with autism.

Children with more severe repetitive behaviours — one of the classic signs of autism — are more likely to experience stomach pain, constipation and other gut difficulties.

Repetitive behaviours include rocking back and forth and hand flapping.

It may be that repetitive behaviours are one way that children with autism communicate their distress at gut problems.

The study underlines the strong link found between mental health problems in general and the gut.

Ms Payal Chakraborty, the study’s first author, said:

“In the general population, there’s a fair amount of evidence about the connection between mood and mental disorders and gastrointestinal difficulties.

In autism, we wonder if the gut problems children experience are a core part of the disease itself or whether they’re brought on by other symptoms that children with autism experience.”

Gut problems typically emerge at a time when children are still unable to communicate verbally.

Previous studies have suggested that probiotic therapy may be able to help people with autism.

Repetitive behaviours in adults

Repetitive behaviours are one of the common signs of autism in adults, although they are just one part of the syndrome.

Habits like lining up objects, or arranging them in patterns are potential signs of autism.

Repetitive behaviours like these are common signs of autism, along with other nervous disorders, like OCD and Tourette’s.

Researchers have developed a test of these signs of autism that can help to diagnose the condition (Barrett et al., 2016).

The test includes questions like:

• Do you repetitively fiddle with items?
• Do you like to arrange items in rows or patterns?
• Do you get upset about minor changes to objects (e.g. flecks of dirt on your clothes, minor scratches on objects)?’

It then asks people to rate how strongly they agree with various statements, including:

• I often notice small sounds when others do not.
• I would rather go to a library than a party.
• I usually notice car number plates or similar strings of information.

Those with signs of autism often insist that their daily routines remain the same.

They use habitual, repetitive movements to try and reduce stress and anxiety.

Repetitive behaviours can include jumping, spinning, arm-flapping, head-banging and so on.

As with many psychological conditions, the seeds of the disorder are found in most people.

It is when it starts to interfere with everyday life that it requires diagnosis and treatment.

Lack of empathy and social skills

A lack of empathy is another of the classic signs autism, even if people do not reach the formal criteria for ASD (Shah et al., 2019).

People who find empathy difficult cannot understand other people’s feelings.

Those who lack empathy, which is one of the signs of autism, tend to agree with statements such as:

• I sometimes find it difficult to see things from the other person’s point of view.
• I become irritated when someone cries.
• I remain unaffected when someone close to me is happy.
• I have a hard time predicting what situations will make other people happy.

Another of the common signs of autism is a lack of social skills.

Symptoms can also include language impairment, repetitive behaviours, sleep disorders, allergic reactions, seizures and abnormal behaviour in general.

Someone who has autistic tendencies would not necessarily receive a diagnosis of autism.

Autism occurs along a spectrum — this means some people have very serious symptoms, while others have only mild symptoms.

Criteria for autism diagnosis is broadening

Many more people, both children and adults, are displaying signs of autism in recent times.

One reason autism diagnoses are rising so rapidly is that the definition of autism is broadening (Rødgaard et al., 2019).

Researchers analysed many separate studies including almost 23,000 people with autism.

The results showed that the difference between people displaying signs of autism and those not showing signs of autism has narrowed by 50 percent between 1966 and 2019.

Professor Laurent Mottron, study co-author, said:

“This means that, across all disciplines, the people with or without autism who are being included in studies are increasingly similar.

If this trend holds, the objective difference between people with autism and the general population will disappear in less than 10 years.

The definition of autism may get too blurry to be meaningful — trivializing the condition — because we are increasingly applying the diagnosis to people whose differences from the general population are less pronounced.”

What has changed is diagnostic practices for autism, said Professor Mottron:

“Three of the criteria for an autism diagnosis are related to sociability.

Fifty years ago, one sign of autism was a lack of apparent interest in others.

Nowadays, it’s simply having fewer friends than others.

Interest in others can be measured in various ways, such as making eye contact.

But shyness, not autism, can prevent some people from looking at others.”

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These foods contain an acid that is linked to autism.

An acid commonly used in processed food is linked to the rise in autism, according to research.

Propionic Acid — known as PPA — is used to increase the shelf-life of packaged foods.

The acid helps to inhibit mould growth in cheese and bread — and is also used in other foods, such as juices and dried fruits.

However, when neural stem cells were exposed to the acid, key molecular changes occurred, the researchers found.

When eaten by a pregnant woman, these changes may inhibit the development of neurons in the unborn child.

The acid has also been found in the stools of children with autism.

Autistic children frequently suffer from gastrointestinal problems, such as irritable bowel syndrome.

Dr Saleh Naser, study co-author, said:

“Studies have shown a higher level of PPA in stool samples from children with autism and the gut microbiome in autistic children is different.

I wanted to know what the underlying cause was.”

For the study, neural stem cells were exposed to PPA, the acid used in food processing.

The results showed that the acid reduces the number of neurons produced.

The acid also increased the production of glial cells.

An excess of glial cells is linked to inflammation, which has also been found in autistic children.

The damage the acid causes could hamper neurons communicating with each other.

This could lead to the characteristic signs of autism, such as repetitive behaviours and problems interacting with other people.

Pregnant mothers who eat processed foods, therefore, may be increasing levels of PPA in their gut and passing on these to the unborn child.

This research is still at an early stage, and the next step is to test the acid on mice.

The authors write:

“This research is only the first step towards better understanding of Autism Spectrum Disorder.

But we have confidence we are on the right track to finally uncovering autism etiology.”

The study was published in the journal Scientific Reports (Abdelli et al., 2019).

Intense world theory of autism is supported by the fact that autistic brains produce 42 percent more information at rest.

The brains of autistic children produce, on average, 42 percent more information than non-autistic children when in a resting state, a study has found (Velázquez & Galán, 2013).

This may explain why children with autism tend to withdraw into their own inner world and become socially detached.

One of the study’s authors, Roberto Fernández Galán, explained:

“Our results suggest that autistic children are not interested in social interactions because their brains generate more information at rest, which we interpret as more introspection in line with early descriptions of the disorder.”

Intense World Theory

The study supports a theory of autism called the “Intense World Theory” (Markram et al., 2007).

This theory suggests that autism is not a mental deficit, but a mental overload. Autistic children deal with this by trying to shut off the outside world.

Proponents say that autism can be described by hyper-perception, hyper-attention and hyper-memory.

All the minds major functions are working at increased capacity, perhaps explaining why autistic children shun social interactions.

Rather than being uninterested in other people, autistic children may find the sudden rush of information from others too much to cope with.

Typically a lack of empathy is described as one of the main features of autism.

But the Intense World Theory suggests the opposite: it actually produces over-sensitivity.

Too much information

The current study, published in the journal Frontiers in Neuroinformatics, examined data from autistic and non-autistic children using magnetoencephalography (MEG; below), which measures electrical currents in the brain.

By comparing the activity across the two groups, the neuroscientists were able to conclude that the…

“…brains of subjects with autism create more information at rest. We propose that the excessive production of information in the absence of relevant sensory stimuli or attention to external cues underlies the cognitive differences between individuals with and without autism.” (Velázquez & Galán, 2013).

The authors believe that similar results will be obtained when the brains of those with schizophrenia are analysed.

Image credit: NIMH

New treatments

If correct, the Intense World Theory may have profound implications for the treatment of autism.

It suggests that some current treatments for autism–which attempt to increase neuronal functioning–are incorrect.

Instead, Markram et al. (2007) argue, children with autism should be in a calming environment. Then their true strengths can shine:

“The Intense World Syndrome suggests that the autistic person is an individual with remarkable and far above average capabilities due to greatly enhanced perception, attention and memory. […] It may well turn out that successful treatments could expose truly capable and highly gifted individuals.” (Markram et al., 2007).

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Mums who take too much of these vitamins during pregnancy could triple the risk of autism in their children.

Mothers who have elevated blood levels of vitamin B12 (cobalamin) or B9 (folate) during pregnancy are more likely to have autistic children.

Folic acid is a B vitamin and synthetic form of folate used in nutritional supplements, breads and fortified foods.

Dark green leafy vegetables are high in folate while vitamin B12 is naturally present in foods from animal sources such as meat, dairy, and eggs.

Folate and B12 are important for the foetus to develop as a deficiency in pregnant mums would put her future child at a greater risk of anaemia and neural tube defects such as spina bifida.

However, high levels of folate (four times higher than the normal range) during pregnancy could triple the risk of Autism Spectrum Disorder (ASD) in new born babies, a study has found.

Similarly, excessive amounts of vitamin B12 in mums triples the risk of ASD for their new babies.

The risk of developing ASD can rise by 17.6 times if both B12 and folate levels are very high.

According to the guidelines, women during pregnancy and before getting pregnant should take 400 micrograms (mcg) of folic acid daily to avoid birth defects.

However, maternal multivitamin supplementation and fortified food intake requires careful planning as increased folate and B12 levels could be associated with ASD.

Professor M. Daniele Fallin, the study co-author, said:

“Adequate supplementation is protective: That’s still the story with folic acid.

We have long known that a folate deficiency in pregnant mothers is detrimental to her child’s development.

But what this tells us is that excessive amounts may also cause harm.

We must aim for optimal levels of this important nutrient.”

Despite the importance of folate and B12, still one quarter of women of reproductive age in the United States are deficient.

Both low and high levels of folate were linked to autism, a neurodevelopmental disorder, the signs of which include repetitive or unusual behaviour, social impairment, and abnormal communication.

In this study, six percent of pregnant women had high blood levels of vitamin B12 (more than 600 picomoles per litre) and 10 percent were high in folate (more than 59 nanomoles per litre).

According to the World Health Organisation, a normal range for folate is between 13.5 and 45.3 nanomoles per litre during the first trimester of pregnancy.

A normal range for folate is between 13.5 and 45.3 nanomoles per litre during the first trimester of pregnancy but there is no established range for vitamin B12 yet.

The researchers think high consumption of folic acid-fortified foods and taking too many supplements could be the reason that some participants had such elevated levels in their blood.

The study was published in the journal Paediatric and Perinatal Epidemiology (Raghavan et al., 2018).