Faces test autism

Aspie Tests | Musings of an Aspie

There are quite a few online Asperger’s Syndrome tests and quizzes. I thought it might be fun to take each of them and then do a little write up. That was the inspiration behind “Take a Test Tuesday,” a series of posts on the screening instruments, online quizzes and other tests related to adult Asperger’s and autism. As you read about and take the online tests, keep in mind that while some of them have proven quite accurate in screening for Asperger’s, getting a certain score on a test isn’t the same as a diagnosis. However, some of these quizzes can be a good starting place if you suspect you might be on the spectrum and are looking to explore that possibility in more detail.

Asperger’s Screening Quizzes

Taking the Aspie Quiz – The Aspie Quiz is made up of 150 questions that fall into six domains. It was developed by Rdos and has been through many revisions over the years. While the Aspie Quiz isn’t an officially recognized test, it does seem to be an accurate reflection of neurotype and you get a pretty picture when you’re done.

Taking the Autism Spectrum Quotient (AQ) Test – The Autism-Spectrum Quotient (AQ) was developed by the Autism Research Centre at the University of Cambridge and first published in 2001. While the test has “Autism Spectrum” in its title, it’s geared toward identifying adults with Asperger’s Syndrome. Unless you score at one extreme or the other, you may find this test raises more questions for you than it answers.

Taking the RAADS-R Test – The Ritvo Autism Asperger Diagnostic Scale-Revised (RAADS-R) is an 80-question diagnostic instrument that is intended to be administered by a professional in a clinical setting. It was primarily designed to identify adults who often “escape diagnosis” due to a “subclinical” level or presentation of ASD. Unlike the other online tests, it takes autistic childhood traits into account, even if they are no longer present.

Taking the AQ-10 – The AQ-10 is a condensed (10 question) version of the AQ test. It is used as a screening tool for adults in the UK, to identify people who may benefit from receiving a comprehensive autism assessment.

Other Tests Related to Asperger’s or Autistic Traits

Taking the Alexithymia Questionnaire – Alexithymia refers to people who have difficulty identifying and describing emotions as well as differentiating between physical and emotional sensations. It’s not a formal diagnosis, but a way of describing a common set of experiences related to emotional dysfunction. The alexithymia questionnaires used in clinical research (TAS-20, BVAQ) aren’t available online, so I took the Online Alexithymia Questionnaire (OAQ-G2).

Taking the Empathy Quotient Test – The Empathy Quotient (EQ) test is intended to be a measure of your ability to understand how people feel and to respond appropriately. The evidence for the EQ as a unidimensional measure of empathy is weak. Aspies tend to score low on the EQ, but what that means is unclear.

Taking the Friendship Questionnaire (FQ) – The Friendship Questionnaire (FQ) was developed in 2003 as part of Simon Baron-Cohen’s ongoing quest to prove his “extreme male brain” theory of Asperger’s. Consequently, the FQ measures a very specific model of friendship to prove a point about people on the spectrum.

Taking the The Systemising Quotient (SQ) – Systemizing refers to the drive to understand, construct, predict and/or control the rules of a system. The SQ is an interesting measure of how dependent an individual is on routine, systems and categorization, but the use of the SQ as “proof” of the extreme male brain theory is highly suspect.

Taking the “Fear, Anger and Joy” Test – “Fear, Anger and Joy,” is a test of the ability to identify emotions in facial expressions. The aim of the test is to evaluate how well people can detect subtle differences in the level of emotion conveyed by an expression, a skill that people on the spectrum often have difficulty with.

Taking the Reading the Mind in the Eyes Test – The “Reading the Mind in the Eyes” is meant to test Theory of Mind (ToM) or the ability to recognize and understand another person’s mental state. The artificial nature of the test seems to reduce its value in identifying problems with ToM, however, it’s an interesting test of static facial expression reading.

Thinking on your Feet: A Trio of Cognitive Tests – Thinking on your Feet consists of three short tests. The first and third tests measure components of executive function: attention and working memory. The second test–visual reasoning–relies on nonverbal reasoning. Individuals on the spectrum are probably more likely to score above average on the second test and average or below average on the other two.

Taking the CAM Face-Voice Battery – The Cambridge Mindreading Face-Voice Battery (CAM) tests recognition of complex emotional states. It consists of short audio and video clips in which actors convey 1 of 20 different complex emotions through either their voice or their facial expressions. The theory behind the CAM is that autistic people are able to read basic emotions but have difficulty interpreting complex emotions.

Taking the Famous Faces Test – “Famous Faces” tests for prosopagnosia or faceblindness which is an impairment in the ability to recognize faces. Although there isn’t a lot of research to support a conclusive link between ASD and prosopagnosia, some degree of faceblindness seems to be common in people with Asperger’s.

The Broad Autism Phenotype Questionnaire – The Broad Autism Phenotype (BAP) is a fancy way of saying that nonautistic relatives of autistic individuals often have subclinical autistic traits themselves. The only online version I was able to locate is seriously flawed so I’m going to recommend against taking it. However, if you’re curious about the Broad Autism Phenotype, this post has background information and a link to a valid print version of the questionnaire.

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Taking the Autism Spectrum Quotient (AQ) Test

Asperger's Tests

November 27, 2012 musingsofanaspie 58 Comments

This week for Take-a-Test Tuesday, I took the Autism Spectrum Quotient (AQ) test. The AQ is used as a clinical screening instrument so in addition to taking the test, I read two of the studies that have been done to validate it. The write up that resulted is rather geeky.

The Autism-Spectrum Quotient (AQ) was developed by the Autism Research Centre at the University of Cambridge and first published in 2001. While the test has “Autism Spectrum” in its title, it’s geared toward identifying adults with Asperger’s Syndrome. It has been tested on adults with normal intelligence who had been diagnosed with AS or HFA*. While the AQ isn’t considered a diagnostic instrument, the 2005 study referenced later in this post did recommend that it be used by family doctors/general practitioners to determine whether to refer an adult patient for an in-depth Asperger’s Syndrome evaluation.

The AQ is composed of 50 short questions, 10 each on:

social skills
attention switching
attention to detail
communication
imagination

The 2001 study that was used to develop the AQ has some interesting data about the validity of the individual questions. If you’ve always disagreed with the idea that autistics lack imagination or can’t see the point of “the phone number question” on the AQ, you might find the individual item analysis revealing. Go take a look for yourself (Table IV, especially items 3, 8, and 29).

I’ll spare everyone else the gruesome details.

Pros and Cons of the AQ

Pros:

Short, can be taken quickly
Self-scoring
Includes questions phrased as both preferences and perceived competencies
Clinically tested (statistical data available on sensitivity, specificity, test-retest reliability, internal consistency, etc.)
Adult, adolescent and child versions are available

Cons:

Possible gender bias
Single score outcome
Choice of questions may be biased toward creator’s theory of autism
No subscale scores
Uncertainty regarding what a mid-range score might mean due to multiple recommended cutoff scores

Taking the Test

There are many places that you can take the test online. I took it at Wired.com. To get started, read the questions and choose one of the four answers for each. Don’t spend too much time agonizing over the slightly or definitely wording. The scoring is based on your choice of agree or disagree with no weight given to how strongly you feel it.

When you’ve answered all of the questions, click the “Calculate Score” button to get your AQ score. You’ll see your score on the next page along with a list of which items you scored positively on. Each positive item (i.e. item that indicates an autistic trait) equals one point, so a higher score indicates the presence of more autistic traits.

Scoring the Test

The possible scoring range is 0-50. The 2001 study found that 80% of people with Asperger’s who took the test scored 32 or higher. A subsequent 2005 study proposed a cutoff score of 26 be used when screening adults for Asperger’s in a clinical setting. The second study found that of 100 people who completed the AQ, the test correctly classified 83% of them as having Asperger’s or not. The 2005 study states that using the higher score of 32 as the cutoff would minimize false positives, so there really isn’t a clear consensus on how useful the midrange scores are.

Here is a graph comparing the scores of people with Asperger’s to the scores of neurotypical controls in the 2001 study:

From “The Autism-Spectrum Quotient (AQ): Evidence from Asperger Syndrome/High-Functioning Autism, Males and Females, Scientists and Mathematicians” by S. Baron-Cohen et. al.

The graph shows a fairly clear difference in the distribution of scores between those with Asperger’s/HFA and the control group. However, it also shows some overlap in the middle of the scoring range. Some people who were clinically diagnosed with Asperger’s/HFA scored in the teens, well below the cutoff of 32, and some neurotypical people scored in the thirties.

The original study also has some interesting outcomes for gender. In the AS/HFA group, the mean score for women was higher than for men, while in the control group, the reverse was true. In fact, the mean score for women with Asperger’s was 38.1 (vs. 35.1 for males) while not a single woman in the control group scored above 33 (highest score for male controls was 37).

Oh yeah, my score was 41.

The Bottom Line

Unless you score at one extreme or the other, you may find this test raises more questions for you than it answers.

————-

*I used HFA (High Functioning Autism) throughout this post because it was used in the 2001 study to describe the diagnosis of some of the study participants.

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Taking the RAADS-R Test
Taking The Aspie Quiz
Aspie Tests
Taking the SPD Checklist
Taking the RAADS-14

Yesterday I ventured way way way outside my comfort zone to record an interview on Autism Spectrum Radio. The host, Rob Haupt, asked some great questions and was easy to talk to. You can listen to our conversation here. Rob does a short intro and then the rest of show (about 35 minutes) is our conversation.

October 3, 2014 musingsofanaspie 13 Comments

ATEC - an application for checking signs of autism - Tribuna on vc.

Free Android application for parents of children with autism and professionals working with such children.

38440 views

Hello! My name is Zakhar, I am an interface designer and the father of a girl with autism.

Zakhar Lobanov

To help other parents of children with ASD, I made a free mobile application for Android in three languages: Russian, English, Spanish. nine0003

What this app is for

My daughter was officially diagnosed with atypical autism only at the age of four.

Although the first signs that something was wrong with the child began much earlier, from a year and a half: the speech that had just appeared disappeared, eye contact disappeared, repetitive obsessive movements appeared, laying objects in a line, tantrums, behavior worsened, etc. .

If at that time I had known that these were very disturbing signs, and not just childish quirks, rehabilitation measures would have been started much earlier and the current condition of my daughter would have been better. nine0003

But then I did not know how to estimate the scale of the disaster. My innate optimism, multiplied by the Russian maybe, and the thought “this cannot happen to my child, this is not autism” only prevented me from starting to act on time.

Plus, the opinions of some doctors “it will go away by itself, let her sort out the buckwheat, let her pump fine motor skills” and “no one will diagnose you until the age of five, don’t invent it” also influenced.

The sooner parents realize that something is wrong with their child, the more time and chances they will have for a successful rehabilitation of the child and bringing him to a state as close as possible to his achievable norm. nine0003

This application will help doubting parents either to dispel their fears or to confirm. And if the fears are not unfounded, it will help to monitor the dynamics of rehabilitation.

Where did you get the questions for the test

There is a website of the American Institute for Autism Research. The online ATEC test is available on it. Autism Treatment Evaluation Checklist (autism treatment checklist). It works great on the site in the desktop version in different languages, but it does not have a mobile version. nine0003

Considering that half of the world's people access the Internet from mobile devices, I thought it would be worth making an application.

I asked the Autism Research Institute if they were okay with it.

I didn’t wait for an answer and decided to act taking into account the condition of the application being completely free, because, as it is written on the autism.org website: “The Autism Treatment Evaluation Checklist (ATEC) may be used only for non-commercial purposes”

nine0002 What is considered an alarm symptom

What is considered the norm or just childish quirks, and what is an alarming symptom? The ATEC test has 77 questions divided into four sections:

Speech, language, communication skills.
Socialization.
Sensory skills, cognitive abilities.
Health, physical development, behavior.

Test sections

These 77 questions are about a child and contain a list of what can be a symptom. Sample questions:

“Can say three words in a row (“I want more milk”)”.
"Does not like being touched or hugged."
"Does not share impressions, no pointing gesture."
"The facial expression matches the situation."
"Looks where everyone else is." nine0050
"Sensitivity to sounds".

Answer options allow you to give your assessment of the severity of the indicated problem according to three or four gradations - from “no problem” to “serious problem”.

Options for answering the question from the fourth section of

How the application works

You go through all four sections in turn (it takes five to seven minutes), answer all the questions about your child and see the final scores. The fewer points, the better. nine0003

The limits on points are approximately the following:

Less than 15 points - the child is fine.
From 16 to 30 points - a mild degree of autism.
From 31 to 40 - moderate degree.
From 41 to 60 - the average degree.
61 and above - severe autism.

For example, in 2014, my daughter scored 63 on the ATEC online test. Results after several months of complex rehabilitation in 2015 - 45 points. Progress was noticeable both by scores and live. nine0102

To save the points history, the application must be granted access to the phone's storage. Where should it store all the previous test results? Stores directly on your phone. Plus, to upload a photo of a child, the application needs access to the camera.

Three languages are currently supported (Russian, English, Spanish). The application looks at the language of the phone and displays information on it. If the language is unfamiliar, it shows everything in English.

nine0002 For children under two years of age, the test results will be incorrect. For example, you should not expect the ability to speak four-word phrases from a one and a half year old.

What the app can do

Save test results in a table separately for each child.
Plot dynamics for the selected period.
Calculate and display the average score for the day.

The graph is built both by total scores and for each of the four sections separately. It is possible to assess how good (or bad) the dynamics are in general or, for example, only in terms of socialization.

Results screen example: this is a layout, the scores and dates on it do not match the schedule, there is no child's profile picture. I have uninstalled and reinstalled the app so many times while working with a mobile developer that my phone does not have data for a beautiful graph. nine0003

For more accurate results, it is better that both parents take the test, because everyone has a different degree of optimism and views on what is considered a serious problem and what is not.

Accordingly, there will be slightly different answers to the same question and a slightly different number of points. The application will calculate the average score for a day in which there were several tests.

What to do with the results

If you regularly test, you can observe the dynamics in the rehabilitation of the child. And to understand whether the chosen methods of rehabilitation help or something needs to be changed. nine0003

Attention! This application does not serve to make a medical diagnosis from the F84 series. Let specially trained people with medical education deal with diagnoses. The application is intended for parents and therapists. It helps to assess the likelihood of having autistic features and the effectiveness of rehabilitation.

If your fears about the child are confirmed by the results of the test (scored more than 15-20 points), do not panic, but do not turn a blind eye to it either. Contact specialists at specialized centers for working with children with ASD (autism spectrum disorders) in your city for advice. nine0003

Some statistics

Based on the current 3000 installs on Google Play:

Most of the users who install the application are from Russia (almost half). And they most often remove it shortly after installation.
The second place is suddenly divided between the countries of South America, almost equally: Chile, Mexico, Argentina. However, the total number of active Spanish-speaking users is one and a half times more than Russian ones. nine0102
Ukraine, USA, Indonesia and Kazakhstan are in third place in terms of the number of installations.

What will you do with the statistics

All information about children and scores is still stored on your phone, is not sent anywhere and is not analyzed in any way. When there are more statistics, it will be possible to analyze it impersonally (for paranoids like me, I repeat - impersonally) in relation to geography and age. There may be unexpected discoveries. nine0003

What other discoveries

For example, there is an interesting study on autism.org that children in non-English speaking countries recover faster than in English speaking countries.

For the curious, a link to the original study, page five.

Surprisingly, compared to English-speaking nations (USA, Canada, UK, Ireland, Australia, New Zealand), non-English-speaking nations showed significantly better progress on total test scores and across all sections. ..

Over two years of study, children in English-speaking countries improved on average by 16.7 points, and in non-English-speaking countries by 21.58 points.

Shreyas Mahapatra, Edward Khokhlovich, Samantha Martinez, Benjamin Kannel, Stephen M. Edelson, Andrey Vyshedskiy, Journal of Autism and Developmental Disorders

Surprisingly, a comparison of developed English-speaking nations (the United States, Canada, United Kingdom, Ireland, Australia, and New Zealand) to non-English-speaking countries demonstrated greater improvements in ATEC total score and all subscales in the non- English-speaking nations. … Over the period of 2 years the participants in the English-speaking nations group improved by 16.70 units (SE = 0.80, p < 0.0001), and non-English-speaking nations group improved by 21.58 units (SE = 0.70, p < 0.0001 ). nine0003
original text

Pay attention. The difference in the effectiveness of rehabilitation is more than 20% in the control groups of about 1000 people.

Perhaps in the future some more statistical information will be found that will help in research on autism.

Instead of afterword

A teacher from Portugal recently wrote to me.

Boa tarde!

Meu nome é (I don't think it's worth showing the name without permission), sou professora. Baixei o aplicativo ATEC, mas não consegui utilizar. Não sei inglês e tentei alterar o idioma, mas não consegui. Acredito que este aplicativo muito me ajudará. nine0003
Agradeço desde já e aguardo um retorno.

Até mais!

Portuguese teacher

She said that she could use the app with her students, but she didn't know English and asked how to switch the app to Portuguese. I advised switching the phone to Spanish, it worked - Spanish is understandable for the Portuguese, about the same as Belarusian for Russians. She thanked and asked to consider adding other languages. nine0003

And I added the Portuguese localization to the German and French localizations to the "Do Later" list. It turns out that 3.9% of Internet users speak Portuguese.

Thank you for reading. It will be great if you tell your acquaintances and friends who have faced the problem of autism about this application.

App page on Google Play.

Autism and "mental retardation": a blurred line

05/23/20

Doctors often confuse autism and intellectual disability ("mental retardation"), which is not surprising - even the biological differences between them are ambiguous. However, scientific progress in this area depends on understanding the intersections and differences for these states. nine0003

Source: Spectrum News

Shortly after Patrick Kelly started school at the age of 5, his teachers told his parents that he should be in a remedial class. His academic results were very poor, and his behavior distracted other children: he waved his arms, swayed, hit his head with his wrists, and constantly banged on his desk. He didn't seem to pay any attention to the people who were talking to him. He looked past them into the distance, turning his head. nine0003

Kelly's teachers believed he had an intellectual disability, at the time called "mental retardation". When he was 9 years old, a standard eye examination at school showed that he was practically blind. After getting his points adjusted, in just two years his scores in all subjects except English improved from extremely low to better than his peers. And it turned out that he listened to what was said in class (and what his parents said about him), and he understood everything. Finally, at the age of 13, he was diagnosed with atypical autism. nine0003

Kelly is now 29, a college graduate and a social worker in New York City. He helps people with autism, intellectual disabilities and similar problems learn everyday skills, such as going to the store, and also works on their communication skills. In his job, he says, he often encounters stories similar to his own—stories of autistic people who have been misdiagnosed as having an intellectual disability. “I've seen too many cases where, after solving an additional problem, people with autism start doing very well in everyday tasks,” he says. “We are strange, you can’t take that away. But there is a difference between differences in perception and a simple inability to understand something. nine0003

It was once believed that autism and "mental retardation" were practically inseparable concepts. In the 1980s, approximately 69% of people diagnosed with autism were also diagnosed with mental retardation. In 2014, the rate of this dual diagnosis (in the US now called mental retardation "intellectual disability") dropped to 30% as researchers refined the diagnostic criteria for autism.

However, the variation in these numbers is huge because the line between autism and intellectual disability remains blurred. Doctors often confuse one condition with the other, or diagnose only one of them even though both are present. The genetic intersection of these states further blurs the picture. Most of the genes in which mutations can cause autism can also cause intellectual disability. In turn, it is extremely difficult for researchers to make progress on drawing the line, partly because much more funding is allocated to research on autism alone, and also because it is usually easier to conduct research among autistic people without intellectual disabilities. nine0003

Overcoming these difficulties will have very important consequences. In the laboratory, identifying the biological differences between autism and intellectual disability could lead to new discoveries about the causes of each condition. This could transform research and allow scientists to accurately document the diagnoses of their research participants. “The state of our science as a whole is at stake,” said Somer Bishop, a clinical psychologist at the University of California, San Francisco. “I believe that if we lose all the characteristics that make each state unique, then we will slow down future discoveries. ” nine0003

In clinics, more accurate diagnoses will enable people to receive services that are better suited to them. “We need to understand who only has autism, who only has an intellectual disability, and most importantly, who has an intellectual disability with autism,” says Audrey Turm, a child clinical psychologist at the National Institute of Mental Health in Bethesda, USA. “We are talking about millions of people who can get better services if we identify them in the right group and choose the right support methods.” nine0003

Primary problem

According to the US Department of Education, in 2014 US schools included 600,000 children with a primary diagnosis of autism and 400,000 children with a diagnosis of intellectual disability. But these numbers are accurate only if the diagnoses themselves are accurate. Separating the two conditions has been difficult since autism was first described in the 1940s. “The issue of differential diagnosis of autism and intellectual disability is as old as the very concept of autism,” says Thurm. “That was the main problem from the very beginning.” nine0003

Intellectual disability is characterized by problems in reasoning, problem solving, understanding complex ideas, and other cognitive skills. The diagnosis is made with an intelligence quotient (IQ) of 70 or less. Autism, on the other hand, is mainly diagnosed by social difficulties, communication disorders, and repetitive behaviors. At the same time, intellectual disabilities can include a general developmental delay that will lead to social differences much greater than one would expect for a person of this age, Bishop said. She once observed a teenage boy with an IQ of 50 who had severe social problems in a public school classroom. In a research project, he scored high on an autism screening test. However, his social skills matched his intellectual level of development - 7 years. In this case, the diagnosis of autism was not appropriate. Despite this, Bishop was the first specialist to tell his mother that her son did not have autism, but an intellectual disability. nine0003

Bishop was also the first to diagnose an intellectual disability in a seven-year-old girl who came to her clinic. The girl moved in a wheelchair, and she could barely follow objects with her eyes, did not speak, and did not interact socially in any way. Her developmental level was at the level of an infant - too young to be tested for autism. Despite this, the neurologist sent the girl to the autism clinic. This was partly because parents wanted to access services that help non-verbal autistic children begin to speak in this way. nine0003

However, thorough testing for intellectual disability is not always carried out. While it's considered best practice, when diagnosing autism, doctors don't always assess intellectual skills, which means many cases of intellectual disability go undiagnosed, says Katherine Lord, a clinical psychologist at UCLA.

Diagnosis of intellectual disability can be artificially limited for another reason - because of the prejudices of society. Parents and professionals are often biased towards the concept of "intellectual retardation", so they may consider a diagnosis of autism much more preferable. nine0003

Parents may also seek a diagnosis of autism for very rational reasons – it may be easier to get services for this disorder than for an intellectual disability, sometimes it is the only way to get services at all. Professionals may realize that an autism diagnosis can open a door for parents, in which case they're more likely to write "autism" even if they're not entirely sure, Bishop said. In this case, it can be morally difficult for specialists to exclude such a possibility. "Sometimes it's terrible to tell a doctor to take a hard line and say, 'This can't be autism.' Because sometimes it means the child won't get what they need,” she says. nine0003

Moreover, the concept of "mental retardation" is associated with much more prejudice and discrimination than autism. People with intellectual disabilities face direct discrimination in access to housing, employment and other areas of life. Social exclusion and social exclusion is much more extreme for people with intellectual disabilities than it is for autistic people. In addition, in recent years, tight-knit and large organizations have emerged that advocate for the rights and support of autistic people, while there are much fewer organizations for people with intellectual disabilities without autism. nine0003

A separate problem is prejudices associated with extremely low expectations from people with intellectual disabilities. Most people present intellectual disability as something once and for all determined, as an inability to develop further. In reality, this is absolutely not the case. And very often, the same methods that help people with autism, such as applied behavior analysis, help non-autistic people with intellectual disabilities make tremendous progress. nine0003

On the other hand, there are people like Kelly who have autism but have been mistakenly labeled with an intellectual disability. And according to a 2009 study, such mistakes happen disproportionately to children from racial and ethnic minorities. The researchers found that when doctors diagnose an intellectual disability in a child from an ethnic minority, they are much less likely to consider alternative explanations than when examining white children.

Misdiagnosis of intellectual disability is especially common among autistic people who do not speak at all or only a few words, says Vanessa Bal, a clinical psychologist at Rutgers University, USA. Approximately 30% of school-age children with autism are minimally verbal (say no more than a few words). And very often, those around them "by default" believe that these children have low intellectual abilities. nine0003

However, in 2016, Bal and her colleagues reported that their study found that about half of minimally verbal children with autism had a higher non-verbal intelligence quotient than would be expected based on their level of language development.

Kelly believes that the problem that leads to the misdiagnosis of intellectual disability in autistic people is false ideas about what intelligence is. According to him, these assumptions are often based only on language skills and very limited norms of behavior. There is scientific evidence that supports his opinion. In a 2007 study of 38 autistic children, researchers found that, on average, their non-verbal intelligence test scores were 30% higher than test scores for people with typical speech development. In some cases, the gap between the level of non-verbal and verbal intelligence was as much as 70 points. nine0003

Another problem is that autism can be difficult to diagnose in people with intellectual disabilities. In 2019, Turm and colleagues reviewed existing research and pointed out that two standard autism diagnostic tools, ADOS and ADI-R, have not been validated for people with severe intellectual disabilities.

Given these clinical complexities, Bishop says, it's possible that some people included in autism studies and databases have an intellectual disability rather than autism. “We're trying to learn more about autism and understand how best to help people,” Bishop says. “When you have a large proportion of children with a different condition in your sample who don’t fit the criteria, then it makes it difficult for you to understand what’s what.” nine0003

Genetic intersections

At the moment, it is difficult to understand what is what, even at the genetic level. Many, if not most, of the major "autism genes" are also associated with intellectual disability. To understand which genes are primarily associated with which condition, the team of researchers looked at data collected from over 35,000 people across multiple databases, including the Autism Sequencing Consortium and the UK10K Consortium, which aims to sequence nearly 10,000 whole genomes. nine0003

Using this data, the team determined that about half of the 102 major autism genes are slightly more likely to be associated with autism. The other half are slightly more likely to be associated with mental retardation, a category that includes intellectual disability. But the results of a study published this February suggest that there is significant overlap between the two conditions. "This is the first time we've been able to get such good quantitative data," said study lead author Steven Sanders, a geneticist at the University of California, San Francisco. “At the genetic level, the autism cohort and the developmental delay cohort share a lot of genes.” nine0003

Many people doubt that even one of the so-called "autism genes" is specific to autism. In a 2020 review of existing research, scientists analyzed attempts to identify rare mutations associated with autism and found none that increased the risk of autism but did not increase the risk of intellectual disability or other developmental disorder.

This intersection is particularly evident in some rare syndromes in which autism and intellectual disability are inextricably linked, both genetically and clinically. For example, Phelan-McDermid syndrome is usually associated with a mutation in a gene called SHANK3, which is closely associated with both intellectual disability and autism. Studies suggest that about 1. 7% of people with an intellectual disability, 0.5% of people with autism alone, and 2% of people with autism and moderate or severe intellectual disability have mutations in this gene. Up to 90% of people with Phelan-McDermid syndrome also have autism.

Fragile X syndrome manifests itself in a similar way. This syndrome is usually caused by a high number of repetitions in the FMR1 gene, and it often overlaps with autism. In this case, too, no one can separate the role of this mutation in intellectual disability and autism. “If we want to understand how these genes influence neurodevelopment, we need to understand the extent to which the genes cause intellectual disability, not how specific the resulting impairment is to autism,” Turm says. nine0003

Still, autism researchers generally try not to separate the two conditions. Instead, they simply exclude from autism research people diagnosed with an intellectual disability in addition to autism. A 2019 analysis, for example, found that in 301 autism studies, on average, only 6% of participants were diagnosed with an intellectual disability, compared to 30% of autistic people overall.

Part of this neglect is due to logistical difficulties, experts say. People with intellectual disabilities are more likely to have problem behaviors and communication difficulties, so they may be more difficult to tolerate blood draws, brain scans, and other medical procedures. Adults with speech disabilities or who are unable to understand research practices may not be able to provide reliable consent to participate in research. Researchers may also narrow down the sample of participants to avoid complications in the data. nine0003

Money also plays an important role. In general, there is now more funding for autism research than for intellectual disability research, Bishop says, and there are far fewer civil society organizations advocating for people with intellectual disabilities. As a result, researchers who study rare conditions such as Angelman syndrome or Phelan-McDermid syndrome actively emphasize the association of these conditions with autism and pay less attention to the severe intellectual disability of people with these syndromes. In genetic studies, the corresponding genes are labeled as "autism genes". nine0003

“All these children with different types of intellectual disabilities are equally worthy of attention,” Bishop emphasizes.

Towards clarity

In order to distinguish between autism and intellectual disability, first of all, it is necessary to improve diagnostic procedures. “I think we're missing out on a lot of opportunities to really help people because we're using these tools that just say, 'Oh look, this person is seriously handicapped.' These tools do not allow us to understand the nuances,” Bal says. nine0003

To capture these nuances, a research team has developed and is testing a version of ADOS that should more accurately diagnose autism in minimally verbal adults. Another team is evaluating a tablet-based tool that measures the cognitive abilities of people with communication disabilities, an adapted version of a standardized test. Among other adaptations, the new version has more instructions and gives people more practice in answering questions than when taking a standard test. The team tested 242 children and adults with fragile X syndrome, Down syndrome and other forms of intellectual disability. They found that the test provided valid results in more than 80% of participants with mental development at 4 years of age. nine0003

Techniques are also being developed that assess cognitive function in people with severe intellectual disabilities by tracking their gaze. Instead of pointing at the answer option on the tablet, people answer questions with their eyes. The procedure allows to test the cognitive abilities of people with limited motor skills, as well as those who cannot speak. And various types of new mobile brain scanners, including modified helmet scanners, allow scientists to measure brain activity in people with intellectual disabilities who find it difficult to remain still. nine0003

In terms of genetics, Sanders says his team's data is a starting point for understanding the biology of the two conditions, which will eventually lead to new treatments. For example, a mutation in one gene may lead to large consequences for social skills and small consequences for cognition, while the situation may be reversed for another gene. Researchers can then study each mutation in animal models and stem cells. “There are many people who meet the diagnostic criteria for autism and have normal IQs. And there are people with reduced cognitive skills who don't have social impairments, says Sanders. “If we want to develop something that can help these people, we need to understand this difference.” nine0003

Families can benefit from this clarity, too, says Tina Gaiser, a family physician in the US state of Minnesota. Her 11-year-old son, Will, began to show signs of developmental delay in his first year of life. Geiser and her husband Andy initially sought an autism diagnosis for Will when he was 3 years old. At that time, the boy spoke only two-word phrases, if at all. His motor skills were also below typical - he couldn't get up and down the children's slide, although most three-year-olds can do it. His tantrums were extreme. But his family then lived in a rural area where testing was not versatile. nine0003

At the age of 5, the boy was diagnosed with autism. Finally, at the age of 9, he underwent a detailed examination and was diagnosed with autism and intellectual disability. Now he receives services at home, but his parents are still not sure what support will be best for him. Will's autism is not exactly typical. He maintains good eye contact and is interested in social interaction. His tantrums are due to the fact that he cannot understand the concept of time. Understanding how his cognitive and emotional difficulties are linked will help the family decide how best to care for Will. “I wish we could separate and understand what is autism and what is intellectual disability. I really hope we get better at supporting kids like him,” says Tina. nine0003

Kelly believes that a better understanding of this division will help NT people better understand autistic people like him.

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