FDA Approves an Accurate Test for Autism Spectrum Disorder

Q. I am in my mid 50’s and sometimes I think I am on the Autism Spectrum, though I was never formally diagnosed. I experience anxiety in social situations, avoid eye contact whenever I can, and am fixated on certain things. I remember seeing Elon Musk on Saturday Night Live not long ago when he admitted that he has Asperger’s and it got me thinking about myself. Whether or not I am “on the spectrum,” I live a productive life as an engineer, have a wife and three children, and although I try to avoid social situations when I can, I am very happy.

Speaking of my children, now that I know more about the symptoms of autism spectrum disorder (ASD), I think my two youngest ones could be on the spectrum. I heard it could be hereditary, so it certainly makes sense. I read about some of the symptoms people experience in their childhood on Autism Speaks, and they fit them to a tee. Is there an accurate test for ASD? How can you plan for a loved one with ASD, if it ends up being more severe than mine is (if I do in fact have it)? Thanks for your help!

A. As you mentioned, Elon Musk revealed last month on Saturday Night Live that he has Asperger’s syndrome, which is a form of Autism Spectrum Disorder (ASD). His opening monologue was as follows:

“It’s an honor to be hosting Saturday Night Live. I mean that,” he began. “Sometimes when I say something, I have to say ‘I mean that’ so that people really know that I mean it. That’s because I don’t always have a lot of intonational variation in how I speak … which I’m told makes for great comedy.” He went on to say that he has Asperger’s. “So I won’t make a lot of eye contact with the cast tonight. But don’t worry, I’m pretty good at running ‘human’ in emulation mode.”

Musk’s announcement was the first time an SNL host announced being on the autism spectrum during a monologue, although not the first time someone with Asperger’s hosted the show–Dan Aykroyd, who has Asperger’s, hosted in 2003.

Some viewers were surprised to learn that Musk has ASD, but to others who know him, it’s always been obvious. Besides the symptoms that Musk mentioned in his monologue, other symptoms of Asperger’s and other forms of ASD are available of the Autism Speaks website here.

Musk may have known that he has ASD his whole life, or he may have learned it relatively recently, as the diagnosis of ASDs have become more widespread in recent years. Whether you know it or not, there’s a chance that ASDs may be affecting your children, friends, other family members, or colleagues. It’s even possible that you could have it yourself without realizing it. Online self-tests can give you an idea and neurologists can certainly provide some answers, but now, there is an FDA approved test that is also highly accurate to test for ASD, particularly for younger children.

Diagnosing ASD

Autism is a developmental disorder that can cause social, communication, and behavioral challenges. It affects about 1 in 54 children. Many children are not diagnosed with ASD until later in childhood, which in some cases delays treatment and early intervention. Autism may be detected as early as 18 months, but the average age of diagnosis is 4.3 years, according to the FDA. Until now, doctors have had to look at a child’s developmental history and behavior to diagnose ASD.

This month, the FDA has approved a device that will help diagnose autism spectrum disorder in children between the ages of 18 months and 5 years who show potential symptoms. Cognoa ASD Diagnosis Aid is a machine learning–based software program that receives information from parents or caregivers, video analysts, and health care providers to help doctors evaluate whether a child is at risk of having autism.

How the FDA’s Authorization of Cognoa ASD Diagnosis Aid Worked

The FDA’s authorization was based on results from a study of a diverse group of 425 kids ages 18 months through five years, across 14 different sites. The study compared how well the software performed in helping diagnose autism compared to a panel of clinicians making a diagnosis based on DSM-5 criteria.

According to the FDA, Cognoa’s test yielded a false positive result in 15 out of 303 kids in the trial without ASD. Meanwhile, it yielded a false negative in just one of the 122 kids with ASD.

In cases where there wasn’t a clear diagnosis or a rule-out, the algorithm gave an indeterminate result. In total, it provided a diagnosis for about 32% of patients in the trial. Most of the diagnoses matched the conclusions of a panel of clinical experts. 81% of the device’s positive diagnoses matched the conclusions of the expert panel. The success rate of the device’s negative predictions was 98%.

Cognoa CMO Dr. Sharief Taraman, a pediatric neurologist, said, “This is a really big deal. We have not had a diagnostic of this kind getting market authorization. He cautions that technology is always a tool, but it should never be a replacement for a clinician. The test is not meant to be a standalone.”  Cognoa plans to begin marketing the software, called Canvas Dx, later this year.

The Importance of Early Diagnosis of ASD and Intervention

There is no cure for ASD and there’s no consensus on what causes it. However, there is lots of evidence that early diagnosis and intervention can improve social and communication skills during infancy and this has the potential to significantly help improve the child’s later development.

Proper early treatment can reduce children’s symptoms and can improve their overall development by helping them learn new skills that will allow them to be more independent throughout their life. Because they are receiving appropriate treatment at key developmental stages, children with ASD are more apt to gain essential social skills and the ability to act better in social situations. These are valuable tools that will help the children to be more independent require fewer services as they age.

Early diagnosis can also benefit parents. Instead of noticing symptoms and worrying that something is wrong with their child, an early diagnosis enables parents to take action and begin helping him or her and planning for the future.

In a recent study that focused on the effectiveness of early intervention, of the 272 kids on the spectrum between the ages of 2 and 10 that were followed, researchers found that 80% made gains in at least one area from early detection and treatment. As you can see, early detection can help children make the most of their strengths and provide them with the potential for a better, more independent life throughout childhood and beyond.

Planning in Advance for Special Needs Children

If something happened to you and you are taking care of a loved one with special needs, what would happen to that person? A special needs trust is an essential tool to protect the financial future of an individual with special needs. Also known as a supplemental needs trust, this type of trust preserves eligibility for federal and state benefits by keeping assets out of the name of the person with special needs, while still allowing the trust funds to be used to benefit the person with special needs. Learn more about Special Needs Trusts here.

Planning for a child with special needs is about your child getting the best possible care after your death or when you become unable to make decisions for your child because of your own incapacity. For children with special needs who have turned 18 and are capable of signing incapacity planning documents such as a power of attorney and an advance medical directive, it is strongly suggested that they sign these documents as soon as possible after they turn 18. At the Farr Law Firm, our proprietary 4-Needs Advance Medical Directive® includes our proprietary Long-term Care Directive®, an extremely detailed and comprehensive planning document which can be used in addition to, or in lieu of, a formal life care plan or letter of intent for a special needs loved one.

For children with special needs who are 17 and are likely to need ongoing support and supervision from their parents after age 18, then guardianship and conservatorship should be strongly considered; we can file a petition for guardianship and conservatorship once your child turns age 17½.

When it comes to special needs planning, estate planning, and retirement planning, the attorneys at the Farr Law Firm can guide you through this process. Please contact us to make an appointment for an initial consultation:

Special Needs Attorney Fairfax: 703-691-1888
Special Needs Attorney Fredericksburg: 540-479-1435
Special Needs Attorney Rockville: 301-519-8041
Special Needs Attorney DC: 202-587-2797
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About Evan H Farr, CELA, CAP

Evan H. Farr is a 4-time Best-Selling author in the field of Elder Law and Estate Planning. In addition to being one of approximately 500 Certified Elder Law Attorneys in the Country, Evan is one of approximately 100 members of the Council of Advanced Practitioners of the National Academy of Elder Law Attorneys and is a Charter Member of the Academy of Special Needs Planners.

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