Question about having some traits of DS without DNA evidence

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I have a question.

Is it possible to have Down Syndrome without genetic evidence?

I was suspicious that I have milder form of Down Syndrome ( Although my facial features looks normal ), because I have some symptoms associated with Down Syndrome.

I asked this to my psychiatrist and she said that is the last thing that I would have, because I don't have any genetic evidence and even my dad explained to me that Down Syndrome always has to be genetic.

Are they right?


I don't even have genetic evidence or environmental evidence for Intellectual Disorder and Autism, even though I have a diagnosis of Intellectual Disorder and Autism.

Even MRI will not detect my history of developmental delay.

Downs Syndrome is Trisomy 21, which means people with Downs Syndrome have three copies of chromosome 21 instead of 2. It can vary a bit. Sometimes the third copy is just a normal chromosome, sometimes it's attached to another chromosome or maybe it could be missing a piece. But either way it's a big genetic difference that's easy to detect.
Autism is different. There is no one mutation or genetic anomaly that causes autism and is reliably associated with it.

Therefore no, you can not have Downs syndrome if no genetic evidence can be found. However, genetic evidence is not used to diagnose autism and you can get an autism diagnosis without genetic evidence.

However, Downs Syndrome is a cluster of many different symptoms. And some individual symptoms are not specific to Downs Syndrome. They can occur in several different disorders. Therefore you could have a symptom that people with Downs Syndrome also have. But you do not have Downs Syndrome unless you have many of the typical symptoms, including the physical ones, and that particular cluster of symptoms is caused by an additional copy of chromosome 21 which is unambiguous and easy to detect.

Thank you, I understood.

I also wanted to ask if it is possible to have a rare form of genetics that can cause Down Syndrome, but cannot be found. But I understood. Down Syndrome has a strong genetic components that are found the most.

I can say that I have more like a Broad Down Syndrome Phenotype?

It's like, I have some symptoms of it, but there are no evidence to confirm that I have Down Syndrome, especially because my facial features looks normal. And also because I have Learning Disorder and ASD.

There's Mosaic Down Syndrome and there's "regular" Down Syndrome.

In Mosaic Down Syndrome, the 21 Trisomy (three branches within Chromosome 21, rather than two) covers only some of your cells. In "regular" Down Syndrome, the 21 Trisomy is total.

What makes you believe you have Down Syndrome?

Intellectual disability within "regular" Down Syndrome is almost universal; some have mild intellectual disability, most have moderate intellectual disability, a few have severe intellectual disability.

In Mosaic Down Syndrome, the intellectual disability and other Down Syndrome characteristics are less pronounced.

My history of:

* Communication delays
* Sensory issues
* Unusual and bizarre believes
* Speech delay
* My skull feels too big, even though my facial features looks normal
* Developing IQ much later for my age
* History of problems with adaptive-functioning

None of what you say would indicate Down Syndrome.

They can indicate a wide variety of things.

I didn't speak till I was 5 1/2. I wasn't very "communicative," either. I have a pretty big head. I have problems with "adaptive functioning." I have "unusual and bizarre" beliefs.

If you get a higher IQ at an older age, this indicates that you are at least of "normal" intelligence. If one has an IQ of 50 at age 6, one usually has an IQ of 50 at age 26 .

I don't have Down Syndrome. You almost definitely don't have it, either.

Actually, it might be said that Down Syndrome is the "anti-autism" (even though a few people with Down Syndrome are autistic).

People with Down Syndrome tend to be very social, and to do well in appealing to people, and in picking up "social cues." They love to smile and hug people.

Their "social IQ" can very well be much higher than their actual IQ.

Thank you, I understood.

I am sorry that I felt confused.

I thought I had Down Syndrome until my psychiatrist explained that this is the last thing that I would have, because I don't have genetic evidence for Down Syndrome.


I told my that this and he told me explained that I have symptoms that looks related to Down Syndrome, but it is caused by other factors, because I have Language Disorder ( could not speak until I was 5), Learning Disorder and ASD.


I am not so sure about Intellectual Disability, I used to point out that there was a very old and outdated document written in Hebrew that I was suspected of having PDD-NOS and Mental Retardation Unspecified, because I did not develop IQ for my age, but my IQ got higher slowly.

I am so sure if I literally have high IQ, but I understand what you meant, because I have some problems with understanding or explaining things in my own word from reading and I still don't know how to do simple math for my age.

I am twenty years old.

The "naivete" and "childlike" personalities is what makes people like them.

I didn't say that they were sophisticated. All I said is that they like to be social, perhaps naively social. What I mean by "social cues," is that they can tell other people's emotions pretty well.

Of course, they can get bullied by stupid idiots.

There was such thing as PDD-NOS.

https://en.wikipedia.org/wiki/Pervasive ... _specified


It is common for individuals with PDD-NOS to have more intact social skills and a lower level of intellectual deficit than individuals with other PDDs.[3] Characteristics of many individuals with PDD-NOS are:

* Communication difficulties (e.g., using and understanding language)[7]
* Difficulty with social behavior
* Difficulty with changes in routines or environments
* Uneven skill development (strengths in some areas and delays in others)
* Unusual play with toys and other objects
* Repetitive body movements or behavior patterns
* Preoccupation with fantasy, such as imaginary friends in childhood

That means that there is a form of Autism with social skills.

People with "regular" autism frequently develop "social skills," too.

I agree!

Wikipedia tends to be too stereotypical. I copied that from Wikipedia, but I not that certain if Wikipedia is correct.

It also depends on how severe Autism is. Autism can be severe to the point where a person could not develop social skills and might have problems with intellectual and adaptive functioning, but even a person with severe symptoms of ASD can have average Intelligence, then all the way to a person that has Level 2 Autism, when they develop some social skills, but have obvious symptoms of ASD and Level 1 Autism is when a person has social skills and enough skills to mask their symptoms of Autism.

But now it is just Autism Spectrum Disorder, DSM-5 and ICD-11, unless the use ICD-10. They now just use ASD.


I also think what Wikipedia meant is that most people with PDD-NOS had social skills from the start, but it is more intact.