Angelman Syndrome: Autistic Empathy

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My understanding is that Angelman and autism can be confused one with the other at time of diagnosis, not that Angelman is a subset of autism. At least when the children are young and difficult to diagnose.

In an adult, Angelman presents quite differently from autism. In typical Angelman the individual is always happy, smiling, and very loving and very touching. My friend with Angelman Syndrome was profoundly intellectually impaired, but walked, liked being around people and enjoyed life immensely. She was a delight to be around. She passed away a few years in her 50s from heart failure.

My understanding of empathy is when one person actually feels the pain of another person. I believe this came from my extensive reading of science fiction as a young person. An empath was someone who took on the pain of someone else.
Google searches now indicate in modern usage there are only minor differences in use between sympathy and empathy.

There's a person with Angelman's in my neighborhood.

He's a nice enough man (he's in his 20's). But he cannot ride a bike; he sometimes rides his oversized tricycle. He is not able to speak at all.

This is the New Age definition, and has nothing to do with reality.

"Empathy" in the real world is the ability to understand and share the feelings of another; not through any alleged "psychic" means or alleged direct mind-to-mind contact, but through simple cognitive awareness and experience.

Only this, and nothing more.

I'm a touch confused on what you are asking.

For anyone that doesn't know, Angelman Syndrome is a chromosomal disorder that causes many of the following symptoms;
Seizures
Intellectual delays
Motor delays (This relates to the name, because of "Jerky" movements)
Speech delays
Resistance to feeling pain, some seem to not feel pain at all.
laughter, lots of it
Childhood insomnia (Generally very severe)

Any two conditions that exhibit a few similar symptoms -- Asperger's and Angelman's, for example -- are not necessarily related. Remember, coincidence does not imply connection.

You might be looking at post zygotic micro deletions that are caused by altered double strand break and repair.
When they occur early during fetal development on genes related to neuronal development, they are mosaic and can be an epigenetic cause of ASD, ADHD, and related disorders.

Concentration of Double Strand Break Specification Signatures in Autism Associated Genes

Let's not forget that only 20 years ago experts were saying that autism was a serious disease. Let's not forget how they assumed that it was a severe learning and social disorder that required prompt treatment and intervention. Now we know more but still think that experts know everything just because it's more pleasant to believe that.

I think it is possible that if you have multiple post zygotic mutations in that gene even though you don't have angelman sysdrome, that you may be very mildly affected in similar ways.
I have something similar but in a different autism associated gene.

I was reading science fiction way before the New Age, but admit my understanding drawn thusly was incorrect. In my early life, I was greatly influenced by science fiction.

Okay, Science-Fiction is rife with "Empaths" who can read and control other people's emotions by some "psychic power", which is nothing more than "magic" by another name.

The New Age movement was the Spiritualist movement before the 1970s, and was largely influenced by Egyptology, the religions of indigenous peoples, and added those to the wooish practices of astrology, numerology, et cetera.

Since then, the Spiritualist movement took much of its current practices from the Fantasy and Science-Fiction writers of the Golden Age, as well as the increase in cinematic and television productions featuring monsters and space-aliens with "psychic powers".

This has led to a fringe society of people who believe in such things as telepathy, tele-empathy, otherkin, human-alien hybrids, cryptozoological beings, and other such nonsense. What keeps them on the fringes of society is the simple fact that not one of them has ever been able to prove that what they believe in has any basis in reality -- it's all about trying to create reality from pure fantasy by locating and indoctrinating people with "open minds" into the belief system through the practice of "magical thinking"* (i.e., "whatever you imagine comes true", et cetera).

In any case, I'll repeat myself: There is no valid empirical evidence to support any claim of alleged "psychic" phenomenon being real.

Unless someone repeatedly demonstrates a real-world "psychic power" under controlled conditions in front of an independent group of professional scientists and professional stage magicians, I will continue to call out any claim of alleged psychic ability as mere deception and fantasy.

(*Note: "Magical Thinking" is the interpreting of two closely occurring events as though one caused the other, without any concern for the causal link. For example, if you believe that crossing your fingers brought you good fortune, you have associated the act of finger-crossing with the subsequent welcome event and imputed a causal link between the two. In this sense, magical thinking is the source of many superstitions. Because of our neurobiological makeup we are prone to magical thinking and that therefore critical thinking is often at a disadvantage. Examples include the Post Hoc Fallacy, the Gambler's Fallacy, and the act of trying to make sense of or give meaning to mere coincidences.)

Angelman's syndrome is caused by a deletion on the maternal chromosome 15. On the paternal side, the deletion causes Prader-Willi syndrome, marked by learning disabilities and a morbid desire to overeat, causing extreme obesity.

It's true.

In Prader-Willi syndrome, the intellect is less affected than within people with Angelman's Syndrome. It's a hard disorder to manage, though.

I know people with Angelman's Syndrome really like to please people, and are happy people generally (despite getting little sleep as kids). I'll have to see if this is true for people with Prader-Willi Syndrome.

Prader-Willi kids have behavioral as well as food issues. Some of their issues seem closer to Asperger's: meltdowns, behavioral problems and the like. Their obsession with food will cause them to do anything to get it, including taking discarded food out of the garbage.

Marybird, if a person has multiple mutations including a deletion on UBE3A, is it possible that they could cancel each other out? I have some autistic symptoms, mostly over sensitivities to environmental things, mild seizures, and too much empathy that I'm nearly a shut in. What are some of your symptoms and have you had genetic testing?

As for Prader Williams Syndrome, I also read that there is also a savant mutation associated with that same gene. Anyone know about that?

Hi, first i want to correct something. I mentioned epigenetics in my original post but i was wrong, epigenetics does not involve mutations.
I'm obviously no kind of expert on this.
I know that two frameshift mutations (a deletion or insertion not divisible by 3 which destroys the reading frame) can cancel each other out if they are divisible by 3 when added together.
Frameshift deletions cause more damage than in-frame deletions.

I've had 23andme testing and from what i have heard, it's pretty reliable.
Mutations on genes that cause severe diseases are very rare.
Mutations on autism associated genes that occur while the fetus is developing would be on only a subset of cells and more common and less serious.

I have found indels on a few genes by downloading 23andme data to a file and doing searches.
Most i've found are on mecp2 including 4 frameshift deletions and i definitely do not have rett syndrome.
If they're not mistakes, they would have to be post zygotic.
I've had autistic symptoms all my life. aloof, in my own world, constant stimming, no eye contact, naive, socially ret*d, not able to make friends, obsessive interests, sensitivities
Also i have poor rote memory, poor vocabulary, poor spelling, trouble expressing myself. I have to look things up a lot and it takes me a long time to write something because of that.
But in spite of that i can reason well.

Marybird, can you help me analyze some of the raw data from 23&me? I'm also slow when it comes to many things such as you mentioned, but I also can reason fairly well as long as I have correct information. I'm pretty sure I have Angelman Syndrome because both of my children have deletion mutations on UBE3A chromosome 15q11.3.

Thanks for your replies.

"Angelman syndrome (AS) is a relatively frequent disorder of mental and motor development. Affected subjects show severe mental retardation, delayed motor development, movement or balance disorders with ataxic gait and jerky limb movements, and absence of speech. In addition, distinct behavioural features, such as frequent laughter and hyperactivity, microcephaly, seizures, and EEG abnormalities are typically found.1

AS is caused by the loss of function of the maternal UBE3A gene. Structural mutations of the UBE3A gene are found in AS patients, suggesting that UBE3A is the major AS gene.2,3 More than two thirds of AS patients have a de novo deletion of approximately 4 Mb of the maternal chromosome region 15q11-q13, which affects several imprinted genes including UBE3A and SNRPN. Only about 1% of AS cases are the result of paternal disomy of chromosome 15. Finally, approximately 5% of AS patients have an imprinting defect (ID). Apparently normal chromosomes of biparental origin carry uniparental DNA methylation because of a maternal chromosome that erroneously carries a paternal methylation pattern.4 In some of these patients the incorrect epigenotype is caused by a deletion in the imprinting centre,5,6 but other mechanisms must exist as well."
https://jmg.bmj.com/content/39/9/e51