Autism

Posted on Autism, Genetics

New genetic clues have been discovered in the largest study of families with multiple children impacted by autism.

UCLA Health researchers have published the largest-ever study of families with at least two children with autism, uncovering new risk genes and providing new insights into how genetics influence the development of autism.

The new study, published on July 28 in the Proceedings of the National Academy of Sciences, also provides genetic evidence that language delay and dysfunction should be reconsidered as a core component of autism.

The majority of genetic studies on autism have concentrated on families with a single affected child, often excluding families with multiple affected children. Consequently, very few studies have explored the impact of rare inherited genetic variations or their interaction with the collective effect of multiple common genetic variations that contribute to the risk of developing autism.

“Study design is critical, and not enough attention has been paid to studying families with more than one affected child,” said lead study author Dr. Daniel Geschwind, the Gordon and Virginia MacDonald Distinguished Professor of Human Genetics, Neurology, and Psychiatry at UCLA.

“Autism is highly heritable. It is estimated that at least 50% of the genetic risk is attributed to common genetic variations, while another 15-20% is due to spontaneous mutations or predictable inheritance patterns. The remaining genetic risk is still not completely understood.”

For this study, researchers conducted whole-genome sequencing on 4,551 individuals from 1,004 families, including 1,836 children with autism and 418 without.

The researchers found seven potential genes linked to autism: PLEKHA8, PRR25, FBXL13, VPS54, SLFN5, SNCAIP, and TGM1. This is notable because previous studies needed larger cohorts to find a similar number of new risk genes. Most of the new genes were supported by rare inherited DNA variations passed from parents to children with autism.

The researchers also looked into polygenic risk, which involves a combination of commonly found genetic variations that can increase the likelihood of developing autism. They discovered that children who inherit rare mutations from unaffected parents, combined with polygenic risk, are more likely to have autism. This helps to explain why parents who have a single rare mutation may not display signs of autism, even if their children do. It also supports the liability threshold model, a concept in behavioral genetics that suggests there is an additive effect of genes influencing the probability of developing a certain trait.

Children who experienced language delay were more likely to inherit a polygenic score linked to autism, compared to children without language delays. This association was specific to autism and was not observed for other traits such as educational attainment, schizophrenia, or bipolar disorder. This suggests a connection between the genetic predisposition for autism and language delay.

The most recent edition of the professional guidebook used by mental health providers to diagnose disorders, the Diagnostic and Statistical Manual of Mental Disorders, 5th Edition (DSM-5), does not consider language delay a core symptom of autism. This is due to the variability in language ability among people with autism.

“This association of general risk for autism that was strongest in those with language delay suggests that language is actually a core component of autism. This finding needs to be replicated in larger cohorts, especially those recruited more recently under DSM-5,” Geschwind said.

Posted on Autism

“According to a new study, one in four doctors with autism have attempted suicide.”

At the doctor's office - doctor and patient
At the doctor’s office – doctor and patient

A quarter (24%) of autistic doctors have attempted suicide, and more than three-quarters (77%) have considered it, according to a new study by Brighton and Sussex Medical School (BSMS), Thomas Jefferson University and Autistic Doctors international (ADI) – published in Frontiers in Psychiatry. Nearly half (49%) had also engaged in self harm.

Lead author Dr Sebastian Shaw, Lecturer in Medical Education at BSMS and the Research Lead of ADI, said: “Whilst it is deeply concerning to see the extent to which my fellow autistic doctors have struggled with their mental health, it is perhaps not surprising when we consider the many barriers and challenges faced by autistic people working in the healthcare sector.

“We also discovered that individuals who viewed autism as a ‘disorder’ instead of a difference or disability were more likely to have attempted suicide. This could suggest that they have internalized feelings of shame from being taught to perceive autism as a disorder during their medical training. This finding supports the idea of embracing neurodiversity when it comes to autism. Promoting greater acceptance of autism as a difference could potentially enhance the well-being of both autistic healthcare professionals and patients.”

The study also found that many doctors with autism did not disclose their diagnosis in the workplace. 29% had not told anyone at work, 32% had disclosed their autism to their supervisor, and 30% had disclosed it to their colleagues. This secrecy seems to contribute to a feeling of isolation. Although four-fifths reported having worked with another doctor they suspected was autistic, only one-fifth reported having worked with another doctor they knew was autistic. Those who had never worked with any suspected autistic colleagues were also more likely to have considered suicide.

As awareness and diagnosis of autism increase, more medical students and doctors are identifying themselves as autistic. A study found that on average, they were diagnosed at the age of 36. Some were diagnosed due to difficulties in stressful clinical environments or demanding career paths. They also found that support from employers was inconsistent, with some colleagues refusing to believe that a qualified doctor could be autistic.

Dr. Shaw emphasized the importance of improving the experience of autistic doctors by promoting a positive view of neurodiversity. Workplaces should offer better support and raise awareness about autistic healthcare professionals. By employing a well-supported and diverse medical workforce, the public’s diversity will be reflected in their medical providers, likely leading to improved experiences and outcomes for neurodivergent patients.

Despite these striking findings, three-quarters of doctors (74%) generally enjoyed their work, and a similar percentage (73%) felt that being autistic was beneficial in their role as doctors.

Dr. Mary Doherty, senior author and founder of ADI, commented, “Autistic doctors are a hidden minority in the medical workforce, and the specialties in ADI challenge autistic stereotypes, with general practitioners being the largest subgroup followed by psychiatrists.”

Dr Wendy Ross, Director of the Jefferson Center for Autism and Neurodiversity, added: “This study is a call to action for the entire medical field to meet the needs of autistic medical talent as well as patients.”

Posted on Autism

“Almost 99% of autistic adults are not receiving public employment services.”

Employment Services Graphic

Only 1.1% of autistic adults who needed employment services received them in 2016, according to the Policy Impact Project in the A.J. Drexel Autism Institute’s Policy and Analytics Center.

Between 2008 and 2016, a new study from Drexel University’s A.J. Drexel Autism Institute found that an estimated 1.98 million autistic adults, representing 99% of those who likely needed employment services, did not receive support through Medicaid or the Vocational Rehabilitation Administration.

The study, recently published in The Milbank Quarterly, examined data from the Centers for Medicare & Medicaid Services as well as the Department of Education’s Rehabilitation Services Administration. The researchers analyzed the distribution of employment services among individuals with autism and those with intellectual disabilities.

“Employment is a crucial factor affecting the health and well-being of the approximately 5.4 million autistic adults in the United States, just as it is for individuals without disabilities,” stated Anne Roux, a research scientist and director at the Policy Impact Project in the Autism Institute’s Policy and Analytics Center (PAC), who is the lead author of the study.

In both Vocational Rehabilitation and Medicaid programs, the research team found that only 1.1% of working-age autistic adults who potentially need employment services are getting them. In 2016, around 4,200 autistic people were receiving services through Medicaid waivers, while nearly 18,000 were receiving Vocational Rehabilitation services.

Two employment services, Medicaid and Vocational Rehabilitation, offer different types of support for autistic adults. Medicaid provides long-term employment services, while Vocational Rehabilitation offers short-term services. However, between 2008 and 2016, Vocational Rehabilitation served eight times as many autistic individuals as Medicaid did. The difference in the number of people with intellectual disabilities receiving services from Vocational Rehabilitation compared to Medicaid was smaller, with three times as many individuals served by Vocational Rehabilitation.

Medicaid funded employment services for fewer autistic individuals, but its spending on employment services for autistic adults was more than double that of Vocational Rehabilitation.

However, total spending on employment services for autistic adults decreased by almost 30% among Medicaid enrollees but increased by nearly 400% among Vocational Rehabilitation service users over the same period.

“Public spending as a whole is going toward short-term employment services, even though many autistic individuals are likely to need some level of flexible, longer-term support throughout their working years,” said Roux.

The research team was  surprised by the gaps in the capacity to provide public employment services.

“It is difficult for me to wrap my brain around exactly how few people are receiving public employment services,” said Roux.

Roux pointed out that autistic individuals do not have guaranteed access to support services for functioning and wellbeing after they finish high school. When special education services end, there is a “services cliff” – a gap in service eligibility – because there is no federal law that allows autistic adults to continue receiving the services and support they may need throughout their lives. The “services cliff” is worsened by very limited access to employment services. Even when services are available, the process of accessing them is often very challenging, preventing individuals from reaching their potential and trapping them in a life of poverty and increased healthcare costs.

The research team aimed to explore how employment services for autistic adults are funded in the U.S. However, they found that there is no publicly available data that tracks employment services for autistic individuals within the Medicaid and Vocational Rehabilitation systems.

“Therefore, the significant gaps in our ability to provide these public services are often only recognized through the stories of individuals who continually report that they cannot access the assistance they require, or by individuals seeking to improve the delivery of these services,” stated Lindsay Shea, DrPH, leader of PAC and the principal investigator for this research. “These findings validate those experiences and underscore the importance of funding for these services.”

As a result, the research team suggests that there is an urgent need for policy changes to enhance the employment services systems in the U.S.

Posted on Autism

Realizing you’re autistic later in life can actually be a positive experience.

Research helps frail older people in hospitals
Research helps frail older people in hospitals

Receiving a diagnosis of autism in your 20s, 30s, 40s, 50s, or even 60s may seem daunting, but a new study from psychologists in Bath and London has found that the age at which someone gets diagnosed has little bearing on the quality of life.

Recently, a late diagnosis of autism has gained attention due to campaigner Christine McGuiness. While autism is typically diagnosed in childhood, it is increasingly being diagnosed in adults, particularly women.

Many parents wonder whether their child’s earlier or later diagnosis of autism will have a long-term impact on their lives. Meanwhile, many adults who are diagnosed with autism later in life often wonder how their lives might have been different if they had been diagnosed earlier.

In this context, a new study conducted by researchers at the University of Bath and King’s College London is the first to investigate whether the age at which individuals become aware of being autistic is associated with their quality of life. The study takes into consideration important factors such as household income.

The researchers surveyed 300 autistic adults to gather information about when they first learned they were autistic. They also collected detailed socio-demographic data including current age, sex, ethnicity, relationship status, living status, education level, employment status, household income, and the presence of additional mental health conditions. Additionally, the participant’s level of autistic personality traits was measured.

Participants then completed questions on various aspects of their quality of life, including physical, psychological, social, and environmental elements. For instance, they were asked, “To what extent do you feel your life is meaningful?” and “How satisfied are you with the support you receive from your friends?”

A study published in the journal Autism found that the age at which one becomes aware of being autistic was not statistically linked to different areas of quality of life, once other factors were taken into consideration. The study revealed that other factors, such as gender and the presence of additional mental health conditions like anxiety, were more strongly associated with quality of life. Autistic women reported a better quality of life than autistic men, while individuals with additional mental health conditions reported a lower quality of life.

Dr Lucy Livingston, a Senior Research Fellow at the University of Bath and a Lecturer in Psychology at King’s College London, mentioned that an increasing number of adults are discovering that they are autistic for the first time. This realization can have a profound impact on their lives. Given that many autistic individuals experience low quality of life and well-being, it raises the question of whether identifying autism at an earlier age leads to better outcomes.

“Our findings did not suggest that there is a universal best time for individuals to discover they are autistic. Some individuals experienced a better quality of life when they were diagnosed at an earlier age, while others had a better experience when diagnosed later. Overall, we found no consistent link between the age at which individuals were diagnosed and their quality of life.”

There are various reasons for this. Getting a diagnosis for autism doesn’t always result in getting additional support, so it’s possible that individuals who find out they are autistic at a younger age didn’t necessarily experience an improvement in their quality of life. On the other hand, receiving a diagnosis as an adult can be a positive experience, helping individuals to better understand themselves, which in turn may enhance their self-reported quality of life. The key message here is that the impact of an autism diagnosis on an individual’s quality of life varies. Additionally, there may be other personal factors that are more significant to consider.

Dr. Florence Leung, Lead Researcher at the University of Bath, stated, “Our research showed that exhibiting more autistic personality traits, regardless of when a person becomes aware of their autism, was strongly associated with poorer outcomes in various aspects of quality of life. We are now investigating this further to understand how specific autistic characteristics impact quality of life. This is an important step towards providing more targeted and effective support for autistic individuals, taking into account their unique strengths and challenges, as well as their own assessment of their quality of life.”

“Moreover, being male and having co-occurring mental health conditions were associated with lower quality of life. These findings underscore the importance of developing gender-specific support strategies to specifically address the mental health needs of autistic individuals and improve their overall well-being. While there has been considerable focus on autism and mental health in females in recent years, it is essential not to disregard the struggles of autistic males and their need for support.”

Co-author and Associate Professor at the University of Bath, Dr Punit Shah, said: “Our research more generally adds to a better understanding of neurodiversity across the lifespan. Autism, for a long time, was thought about as a childhood condition. Many still think this way. But people may not realise that most autistic people, in the UK for example, are now actually adults. With an ageing society, this pattern will increase over the next few decades, so it is critically important that we conduct more detailed investigations into individual differences amongst autistic adults, as we have done. Such autism research in adults will thereby start to reveal the many different ways in which we can understand and support autistic people right throughout their lives, moving beyond a ‘one size fits all’ approach.”

Posted on Autism

New research suggests that the number of people with autism could be double the previous estimates.

The true number of autistic people in England may be more than double the number often cited in national health policy documents, suggests a new study by UCL researchers.

To do this, the researchers calculated the number of people who had received an autism diagnosis from anonymised data from more than 5 million individuals registered at GP practices in England between 2000 and 2018. 

They then compared these figures with a lower (c.1%) and upper (c.3%) estimate of how common autism really is in the population.

The lower estimate was based on the widely stated figure that around 1% of people in England are autistic. This came from epidemiological research published in 2011, before changes to the diagnostic criteria for autism that made them more inclusive.

Meanwhile, the upper estimate was based on rates of diagnosed autism in young people (aged 10-19) in the researchers’ dataset. This is because young people are most likely to have had their autism recognised since providers are now very aware of autism in young people.

The team’s estimates suggest that between 150,000 and 500,000 people aged 20 to 49 years-old may be autistic but undiagnosed. Meanwhile, between 250,000 and 600,000 autistic people over the age of 50 may be undiagnosed – more than 9 in 10 of all autistic people.

The midpoint of these figures translates to approximately 750,000 undiagnosed autistic people aged 20 and above, in England. This brings the total autistic population to over 1.2million – approaching double the figure of 700,000 cited by the government for the entirety of the UK*.

Now researchers are calling for better access to diagnostic services for adults, and better support after diagnosis.

They also want to encourage greater acceptance and understanding of neurodiversity in society.

Lead researcher, post-doctoral researcher Elizabeth O’Nions (UCL Psychology & Language Sciences), said: “Historically, autism has been considered as a condition of childhood. But recently, awareness has been growing that it is present across the lifespan – in adults as well as young people.

“Nevertheless, autism is still under-recognised in adults. Our estimates suggest that about 180,000 people aged 20-plus had an autism diagnosis as of 2018, meaning that most autistic adults in England were undiagnosed.

“This matters because autistic people often experience discrimination and exploitation in society. They may have unmet support needs, even when they appear to be coping with life.

“Having a diagnosis means that someone can advocate for their right to reasonable adjustments and the support they need. Recognising that someone with an intellectual disability is autistic can also help people to understand and support them better.”

Autistic people may exhibit signs such as differences in their social communication and social interaction, alongside restricted and repetitive patterns of behaviours, interests and activities.

Many autistic people require adjustments to be made to ensure equal access healthcare, employment, and local authority support.

Dr O’Nions added: “Our findings indicate that there is still a substantial diagnostic gap in adults compared to children and young people when it comes to autism in England.

“This may partly reflect a lack of awareness and understanding of autism in adults on the part of healthcare professionals. Older adults may also be less likely to self-identify as autistic, meaning that they do not come to the attention of services.

“Meanwhile, providers may be hesitant to raise the issue of autism given the uncertainty around waiting times for a diagnosis and the availability of support or specialist services post-diagnosis.”