Autism Acceptance Month, previously named Autism Awareness Month, is being held this month, with the aim of celebrating and promoting acceptance for the condition.

Autism is a complex developmental condition with a wide range of subtypes which affects a person's ability to interact with others and progress along physical and mental milestones at a typical pace. The annual initiative first took place in 1972, promoted by the Autism Society. It calls for greater public awareness and acceptance, encouraging all of us to be more inclusive toward people with autism.

Around the world this month, events are underway to encourage people to promote autism acceptance. The Office of Autism Research Coordination, at the National Institute of Mental Health, stated that they "recognize the need for supporting, understanding, accepting, including, and empowering of people on the autism spectrum".

The UN Secretary General, Antonio Guterres, made a statement on World Autism Awareness Day, April 2. He affirmed the UN’s support of the rights of people on the autism spectrum to fully participate in society, in line with the Convention on the Rights of Persons with Disabilities and the 2030 Agenda for Sustainable Development.

Secretary Guterres said, "Many persons with autism still live in isolation, discriminated against and disconnected from their communities, in institutions or even in their own homes. The Covid-19 pandemic has exacerbated many of these inequalities through the loss or reduction of services at school, in homes and in the community."

He continued, "We need to ensure that the rights, perspectives and well-being of persons with disabilities, including those with autism, are an integral part of building forward better from the pandemic."

The solution, he believes, lies in more community-based support systems for people with autism, as well as inclusive education systems, training programs, and suitable technology solutions - all developed in active consultation with persons with disabilities and their representative organizations.

Autism is thought to be associated with a combination of genetic and environmental factors, with much of the research focusing on possible genetic causes. Many people with autism also have additional physical health conditions such as epilepsy or mental health conditions such as anxiety or depression.

The genetic basis of autism remains poorly defined and this complex disorder may have a number of distinct causes that may co-occur. Recent genetic and genomic studies have implicated a large number of genes in autism, and some of the latest work has looked at genes that control synaptic proteins in brain cells, suggesting that synaptic dysfunction may have a critical role in autism.

A study by Dr. Steven Clapcote and colleagues at Leeds University, UK, investigated whether a reduction in the action of a gene called NRXN2 would cause autism in animal studies. They used mice with the same alteration in NRXN2 as seen in some people with autism. This did indeed lead to behavioral features similar to autism symptoms. "In other respects, these mice were functioning normally," said Dr. Clapcote. "This is exciting because we now have an animal model to investigate new treatments for autism."

These findings appeared in the journal Translational Psychiatry. The researchers add that the genetically altered mice replicated some of the core symptoms of autism such as reduced sociability and heightened anxiety under stress, while showing no impairment in intellectual ability. The team concludes, "Recent genetic and genomic studies have implicated a large number of genes in autism, many of which encode synaptic proteins, indicating that synaptic dysfunction may have a critical role in the genesis of autism-related behaviors." These mice "may thus provide a useful experimental system for the exploration of disease mechanisms and novel treatments in autism", they believe.

Certain antipsychotic drugs used for the treatment of autism, as well as schizophrenia, are being investigated due to their effect on this group of genes. "We don't fully understand how the drugs used to treat schizophrenia and some symptoms of autism work," explains Dr. Clapcote. "If we can show they can affect mice with this particular genetic mutation, then it gives us a clue to better understand the illnesses and opens up the possibility of more targeted treatments with fewer side effects."

"However, these illnesses are complex," he adds, "involving not only inheritance, but other factors such as environment and experience. It's possible the genetic mutation might create a predisposition, making people more likely to develop autism or schizophrenia."

A recent study has looked at links between a genetic predisposition for autism and adverse outcomes, such as self-harm and suicidal thoughts. This represents "complex gene-environment interactions", and highlights "potential mediators of this shared biology", say researchers led by Dr. Varun Warrier at the Autism Research Center at Cambridge University, UK. They point out in Molecular Psychiatry that there is an urgent need to understand and address these links, but that “only a handful of studies have investigated variables that contribute to and mediate this association”.

Their study analyzed genetic information on 105,222 individuals from the UK Biobank, and identified significant correlations between the genetic predisposition for autism and self-reports of childhood maltreatment, thoughts of self-harm, and actual self-harm. “A better understanding of these issues is critical to improving wellbeing in autistic people”, said the lead researcher, Dr. Warrier. "While we have found an association between a genetic likelihood for autism and adverse life events, we cannot conclude the former causes the latter.”

“We suspect this association reflects that genes partly influence how many autistic traits you have and some autistic traits such as difficulties in social understanding may lead to a person to be vulnerable to maltreatment.

“This research highlights the risks of such adverse outcomes for those with a high number of autistic traits, if adequate safe-guarding and support aren't provided."

Could an intervention early in life positively impact autism symptom severity and improve developmental outcomes? This possibility has been explored by researchers from Australia and the UK.

Dr. Andrew Whitehouse of the University of Western Australia and his team suggest that an early parent-led intervention may benefit infants with autism spectrum disorder-related behaviors. The researchers examined an approach that could begin well before clinical diagnosis is possible.

Writing in JAMA Pediatrics, they explain, "Intervention for individuals with autism spectrum disorder typically commences after diagnosis. No trial of an intervention administered to infants before diagnosis has shown an effect on diagnostic outcomes to date."

They conducted a randomized trial including 103 infants aged 9 to 14 months with early behavioral signs of autism. One group of children was given the therapy which used video feedback to help parents understand their baby's abilities, so they can use them as a foundation for future development in areas such as social engagement, sensory behaviors and repetitiveness.

Among those given the intervention, 7% met the diagnostic criteria for autism at three years, compared with 21% for those who received usual care. This represents "a statistically significant reduction in the severity of autism behaviors across early childhood", they report.

Professor Jonathan Green of the University of Manchester, UK, said, “These findings are the first evidence that a pre-emptive intervention during infancy could lead to such a significant improvement in children’s social development such that those receiving the intervention then fell below the threshold for a clinical diagnosis of autism." He added that the intervention "works with each child’s unique differences and creates a social environment around the child that helps them learn in a way that is best for them".

It remains unclear what gives rise to the diversity within the autism spectrum or why some people with autism have better outcomes than others. Work continues around the world to understand the biomedical causes of autism, to evaluate promising interventions, and to improve the health and wellbeing of people with autism.

The understanding of autism has improved a lot since research into the condition began. But there is still much more we need to know to improve the quality of life and outlook for people with autism and their families.

References

Dachtler, J. et al. Deletion of a-neurexin II results in autism-related behaviors in mice is published in Translational Biology. Translational Psychiatry, 26 November 2014 doi: 10.1038/TP.2014.123
www.nature.com/tp/journal/v4/n11/full/tp2014123a.html

Warrier, V. et al. Childhood trauma, life-time self-harm, and suicidal behaviour and ideation are associated with polygenic scores for autism. Molecular Psychiatry, 29 October 2019 doi: 10.1038/s41380-019-0550-x
http://dx.doi.org/10.1038/s41380-019-0550-x

Whitehouse, A. J. O. et al. Effect of pre-emptive intervention on developmental outcomes for infants showing early signs of autism: A randomized clinical trial of outcomes to diagnosis. JAMA Pediatrics, 20 September 2021 doi:10.1001/jamapediatrics.2021.3298
https://jamanetwork.com/journals/jamapediatrics/fullarticle/2784066