Angelman Syndrome: Autistic Empathy
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
Autonomous_Bay, as far as i know 23andme dosen't pick up large structural variations like mentioned here. Variations and small indels could possibly contribute to your symptoms. Dbvar has useful information if you have a link to that from dbsnp.
Also, dbsnp on the right hand side of the page, if you click on links you will see a link to Ensemble which has a link to the phylogenetic context. you can compare your snps to the human, chimpanzee, and bonobo which are the ancestral alleles and are usually identical. If your alleles differ from the human it's ether a harmless variation or mutation.
If you log into snpedia and enter an rs# you will usually get links to other sites with helpfull information.
welcome to wp.
lostonearth35
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I think I must have Devilman Syndrome. Or Devilwoman in my case. ![]()
Symptoms and traits of DS include several or all of the following:
-Perpetually angry or annoyed facial expression, even when the person is feeling happy or just neutral, also known as
Resting B**ch Face
-Voice sounds unusually deep or overly high, e.g. demonic
-Hot-tempered, like a living firecracker, suddenly snaps or blows up without warning, often seemingly for trivial
reasons or none at all.
- Rarely smiles, and when they do it's usually a "Slasher smile".
-Shows obvious pleasure at other people's failures and misfortunes, which they may or may not be the reason for.
-Shows profound displeasure of seeing or hearing about other people's successes or activities that give them
pleasure.
-Grows long bangs or has very thick, unruly hair (as a way to hide the horns that will one day sprout out of their
heads)
-A dislike or avoidance of high heat (because that's where they're going to end up in the next life)
-Fascination with the color red, fire, rock music, video games, Harry Potter novels, Halloween, and the myth known as
evolution.
-Feels good or says good things about themselves because of their accomplishments, e.g. "I scored 98 out of a
hundred on my test today, I must be pretty smart!"
-Believes in donating one's blood or organs to people who are diseased or injured.
-Questions the Bible, Christianity, or religion in general
-Disobeys parents, or is a female who disobeys males, especially when told to do something that they know will bring
them great harm.
-Is LGBT, or even LGBT-friendly.
-Believes in or uses unnatural forms of birth control.
-Self-pleasure.
![]()
YOU are Sarah Huckabee Sanders?!
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Autonomous_Bay
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ASPartOfMe
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Research uncovers mechanism behind epilepsy in Angelman syndrome
Using human induced neurons, the team discovered that one specific ion channel which allows potassium to pass through cells was misregulated in neurons from AS patients' cells. This change, which was caused by a missing gene, seems to be responsible for frequent seizures in AS patients. Hence, suppressing the specific ion channel activity could ultimately resolve seizures experienced by AS patients. As the missing gene is common to other forms of autism, the same mechanism may be responsible for the broader range of symptoms seen in autism and finding a treatment for it could potentially benefit people with autism in general.
AS and autism share a common genetic basis, specifically, a disruption in the number of copies of the Ubiquitin Protein Ligase E3A (UBE3A) gene. Because of this, many researchers believe that identifying the mechanism underlying AS can lead to therapeutic options for disorders with similar symptoms, such as seizures and learning disability. However, existing studies using mouse models—currently the go-to experimental models for biomedical research on AS—have not fully addressed the underlying mechanism of network hyperactivity leading to epileptic seizures observed in AS. Furthermore, it is unclear whether similar pathological mechanisms operate in human AS cases.
"Findings from mouse models of AS have been hard to translate into human trials because of key differences between human and mouse neurons, resulting in an inability to identify a clear mechanism that can lead to effective therapeutics," explained Associate Professor Hyunsoo Shawn Je, from Duke-NUS' Neuroscience and Behavioural Disorders Programme, senior author of the study.
To date, the few studies that have used human neurons derived from AS patient-induced pluripotent stem cells (iPSCs) were unable to sufficiently explain the epileptic network activity observed in AS patients. A key concern regarding these studies is that the limited functional maturation of human neurons grown in long-term cultures may affect the modelling of true disease phenotypes in human patients.
The research team from Duke-NUS and NNI, together with collaborators from the Genome Institute of Singapore (GIS), the Singapore Bioimaging Consortium (SBIC), the Agency for Science, Technology and Research (A*STAR), the National University of Singapore (NUS), and Duke University therefore focused on studying the functional changes of human neurons induced from AS patient-derived iPSCs at both the individual cell and the network ensemble levels with the use of functionally mature two-dimensional (2-D) human neuronal cultures as well as three-dimensional (3-D) human cortical organoids, or mini brains.
"Our study used 2-D human neuronal cultures that enabled the accelerated discovery of functional differences at the individual cell level in the brains of normal individuals versus those with AS," Assoc Prof Je clarified. "The use of 3-D human mini brains then allowed us to monitor spontaneous network activities, connecting the findings of abnormal firing by single neurons and seizure-like activities just like the ones observed in AS patient brains."
"We found that dysfunction of a specific molecule, known as the large conductance calcium-activated potassium (BK) channel, was misregulated in neurons derived from AS patients' cells, and this change seems to be responsible for frequent seizures in AS patients," Dr. Alfred Sun, Junior Principal Investigator at NNI and co-first author of the study, elaborated.
"The integrative data analysis obtained from functionally mature 2-D neurons and 3-D organoids using a combination of genetic, biochemical, electrophysiological, and imaging assays represents an advanced platform for investigating neuronal phenotypes in vitro. This approach may be applicable to disease modelling studies performed in other tissues or organs," Dr. Qiang Yuan, co-first author from Duke-NUS, highlighted.
Following on from this study, the researchers are next developing a high-throughput drug-screening platform using human induced neurons to screen US Food and Drug Administration approved drugs that can potentially be repurposed for treatment of epilepsy in AS patients.
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I wonder if a girl in my special ed class had Angelman's. She couldn't walk so she used a walker and then she was using crutches and she also had double incontinence so she wore diapers and she was very small for her age a lot shorter than me even though she was a whole year older than me. I had also never seen her cry and she never yelled or never got upset, she was always happy. It was as if she was incapable of getting upset and having negative emotion. I hear Angelmens are always very happy and are called little puppets. At the end of the school year she was using the stairs instead of ramps and wheelchair lifts. I also wondered if she might have gotten in a car accident and it left her unable to walk and left her with incontinence because she was getting better at movement. I have also thought of maybe she had spina bifida or maybe cerebral palsy.
My teacher had a great niece with it too and told me she only got diagnosed at 3 months because she never cried. She was too happy. She didn't start walking till she was 3.
Angelman also affects mobility movement and the ability to go to the bathroom. It can also affect intelligence.
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Son: Diagnosed w/anxiety and ADHD. Also academic delayed and ASD lv 1.
Daughter: NT, no diagnoses. Possibly OCD. Is very private about herself.
Not sure if it's helpful, but I put together some information on Angelman Syndrome, along with research, books and a few articles here ... http://www.aspie-editorial.com/angelman-syndrome/
TY. Obviously many conditions like this and ASD are interrelated. It is obvious, right? This caught my attention b/c my daughter and I are both "unnaturally" happy (and childlike). My daughter and I do not have Angelman's Syndrome (based on it's level of disability), but I see similarities with most of the symptoms, mild on our parts (e.g. e.g. frequent migraines, not epilepsy). Just last week I was called "cute" (b/c what does one say to a bubbly 50-year-old in the office kitchenette) and today I was again told how amazingly happy my daughter is (although she has infrequent but intense bouts of crying). Thinking of the interrelated world of NDs people, different manifestations to different degrees, but linked from one to another all the way around.
Thanks, Sharon. Yes, there most certainly are similarities, and I too, have always been a remarkably happy soul, in spite of alot of trauma. I’m also VERY drawn to water... I should point out that the only reason I added it to my blog, was that acting is in the family and when Colin Farrell’s son was diagnosed with Angelman’s, I took the chance to learn more about it.
A number of symptoms of Angelman Syndrome are strikingly similar to those seen in infants and toddlers with autism spectrum disorder (Mayo Clinic):
Developmental delays in speech and movement
Intellectual disability
Seizures by toddler age
Unusual behaviors and/or repetitive such as hand flapping
Plenty of other symptoms don’t align, however.
Acting in a way that conveys an exaggerated level of happiness and excitement during the early stages of development can be a key indicator of Angelman Syndrome, but is not something seen in children on the autism spectrum. In fact, at one time, Angelman Syndrome was referred to as “happy puppet syndrome,” because of the characteristic of stiff puppet-like movements coupled with a consistently cheerful personality.
Though head size isn’t included in the diagnostic criteria for either syndrome, there are instances when it presents itself as a differentiating characteristic:
Children with autism may develop a larger head and, in fact, a larger brain. This won’t be evident in the early months, but later as they grow it is something that could present itself.
Conversely, Angelman Syndrome can cause a small head or microbrachycephaly, according to the Mayo Clinic.
The following is an interesting read, and highlights a case of a child who was mistakenly disgnosed ASD, when she in fact has Angelman Syndrome ...
https://www.appliedbehavioranalysisedu.org/how-does-asd-differ-from-angelman-syndrome/
A study on Comorbidity of Angelman and ASD:
https://www.ncbi.nlm.nih.gov/pubmed/15165432
And further information re autism in Angelman Syndrome:
https://angelmansyndromenews.com/2018/06/18/genetic-defects-maternal-origin-may-cause-autism-study/
Ha!: I'm an actress, although currently "acting" as an engineer (it pays well).
Do you wonder that you have Angelman "light"?
My mom say I was the happiest child until I entered school. As a teenager I had a year that was horribly traumatic and my yearbook was filled with the typical "you are the happiest person in the world".
Small heads over here (my daughter's birth weight was underestimated by over 1 lb b/c of it). Acid reflux, etc.
Back to OP about empathy. My ASD-like mom, myself and my daughter have strong empathy (sometimes "paranormal"). I can feel a person's feelings but it's amplified for me. My mom has said the same and I have seen my daughter burst into near-hysteric tears when her brother has a small upset. My mom, like me, isn't in social contact much, but we both have the uncanny "ability" to call folks the minute of a loved one's death, or within 24 hours after (or before) a significant life-impacting event. Just a few months ago my ASD-like 8-yo daughter announced to me one morning she would name her daughter "NAME" (which I thought was odd; she's
and I received a text six hours later that six hours earlier my cousin had bore a daughter named "NAME" (albeit it's in the Top 50 of popular names, but not Top #25). What up with that?
Haha ... Sharon ... Star of Engineering
, breaking all box office records
...
Angelman Lite ... Considering my history, who knows? Average sized heads here. Although, I was pretty much mute when younger, but was stereotypically autistic through and through in every way ... many children on the spectrum are drawn to water, as I am, something I'm very aware of, as a friend lost her autistic grandchild in a terrible pond drowning in Australia, as have many others I've read about, so I'm not really alone on the water front. Though, yes, it's definitely a major trait of those with Angelman Syndrome. No question about it. Also, I may have just been fortunate having the "happy gene" lol. My daughter's the same. We both were far too high functioning though, avid readers from the age of 3yrs, very empathic(your above posts are soo familiar, right down to the bursting into tears, oddly as a teenager(put this down to hormones and missing boyfriend at the time, but it was odd and I never forgot it)... I was happy, until my mother died just before I started Infants School, and then became a runner, the great Houdini escapee from school! Nearly sent my father grey, early!
Ooh, my daughter also had terrible acid reflux, as yours did! Projectile vomitting as a baby! We altered feeding technique and incorporated a thickener. Interesting reading your experiences ... thanks.
"Star of Engr". Amusing.
Your Houdini experience reminds me of Superman flying around and around the world to get Lois back, except you ran and ran and your mom couldn't come back in body. And being as empathetic as I am, I'm all chocked up. For your losses, for mine. I am glad we've had "gains" also.
Your hyperlexia reminds me that in the world of heart failure, a heart can have an ejection fraction rate that is too low (long known), but interestingly also too high (more recently studied). I find moderation to be very difficult and find myself on the "too high" side of ASD. But then, I'm not failing, I'm struggling. We have a grasshopper at the house that has defied all the online life expectancy articles I can find and I have relatives who quickly succumbed to heart failure and others who have lived decades in heart failure. Time will tell for us.
I wonder that you still run and read to this day, in moderation. ![]()
