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Angelman Syndrome

What is Angelman Syndrome?

Angelman syndrome is a genetic disorder caused by deletion of genes on chromosome 15 and is typically characterized by developmental delay, sleep disturbance, seizures, jerky movements, and frequent laughter or smiling.

 

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Description
Angelman syndrome is a genetic disorder caused by deletion of genes on chromosome 15 and is typically characterized by developmental delay, sleep disturbance, seizures, jerky movements, and frequent laughter or smiling.
Acknowledgement of Angelman Syndrome has not been added yet.
6.5http://www.orpha.net
Synonyms for Angelman Syndrome has not been added yet.
What Causes Angelman Syndrome? Angelman Syndrome is caused by a severe reduction of expression of the gene UBE3a in the brain. UBE3A is a ubiquitin ligase whose function and targets relevant to AS are still unknown. 15q11.2-q13 deletions (~68% of cases) - the majority of AS cases are caused by deletions on the maternal copy of Chromosome 15. Due to genomic imprinting, only the maternal copy of UBE3A is expressed in the brain. The deletion thus removes the normal expression of this gene in AS individuals. UBE3A mutations (~11% of cases) - In these individuals, mutations in the UBE3A gene either prevent its expression or function. Thus these individuals do not have the appropriate levels of fuctional UBE3A in the brain. Uniparental disomy (UPD; ~7% of cases) - in UPD, the individual has two copies of paternal Chromosome 15. Because UBE3A is not expressed from the paternal copy, these individuals lack normal levels of UBE3A in the brain. Imprinting defect (~3% of cases) - These individuals may have a deletion of the imprinting center an Chromosome 15, but cases can also be caused by loss of imprinting information during the mother’s oogenesis. Loss of imprinting will prevent expression of the maternal UBE3A gene in the brain. Clinical/other (~11%) - In these individuals, all testing for Angelman Syndrome is normal, but they still meet the diagnostic criteria for AS. These individuals may have as yet unrecognized mutations that affect UBE3A or genomic imprinting on Chromosome 15. Please note that there are several other syndromes that present like AS that can be tested for. Summarized from GeneReviews on Angelman Syndrome by C.A. Williams and D.J. Discoll
Diagnostic Criteria for Angelman Syndrome • Behavioural uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behaviour; short attention span (100%) • Speech impairment, none or minimal use of words; receptive and nonverbal communication skills higher than verbal ones (100%) • Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs (100%) • Developmental delay, functionally severe (100%) • Seizures, onset usually <3 years of age (80%) • Feeding problems during infancy (20-80%) • Uplifted, flexed arm position especially during ambulation (20-80%) • Sleep disturbance (20-80%) • Attraction to/fascination with water (20-80%) • Increased sensitivity to heat (20-80%) • Abnormal EEG, characteristic pattern with large amplitude slow-spike waves (usually 2-3/s), facilitated by eye closure (80%) • Hypo-pigmented skin, light hair and eye colour (compared to family), seen only in deletion cases (20-80%) • Wide mouth, wide-spaced teeth (20-80%) • Frequent drooling (20-80%) • Excessive chewing/mouthing behaviour (20-80%) • Tongue thrusting; suck/swallowing disorders (20-80%) • Protruding tongue (20-80%) • Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2 (80%) • Flat occiput (20-80%) • Occipital groove (20-80%) • Strabismus (20-80%) an eye condition • Hyperactive lower limb deep tendon reflexes (20-80%) From: “Angelman syndrome 2005: updated consensus for diagnostic criteria.” Williams CA et al, Am J Med Genet A. 2006 Mar 1; 140(5):413-8. PMID: 16470747
After considering the Diagnostic Criteria for Angelman Syndrome (listed above) and seeking genetic testing, the following variations of irregularities in Chromosone 15, may be diagnosed: 1. Deletion positive (del+) the majority of AS cases are caused by deletions on the maternal copy of Chromosome 15. Due to genomic imprinting, only the maternal copy of UBE3A is expressed in the brain. The deletion thus removes the normal expression of this gene in AS individuals. 2. UBE3A mutations (~11% of cases) - In these individuals, mutations in the UBE3A gene either prevent its expression or function. Thus these individuals do not have the appropriate levels of fuctional UBE3A in the brain. 3. Uniparental disomy (UPD; ~7% of cases) - in UPD, the individual has two copies of paternal Chromosome 15. Because UBE3A is not expressed from the paternal copy, these individuals lack normal levels of UBE3A in the brain. 4. Imprinting defect (~3% of cases) - These individuals may have a deletion of the imprinting center an Chromosome 15, but cases can also be caused by loss of imprinting information during the mother’s oogenesis. Loss of imprinting will prevent expression of the maternal UBE3A gene in the brain. 5. Clinical/other (~11%) - In these individuals, all testing for Angelman Syndrome is normal, but they still meet the diagnostic criteria for AS. These individuals may have as yet unrecognized mutations that affect UBE3A or genomic imprinting on Chromosome 15. Please note that there are several other syndromes that present like AS that can be tested for. Summarized from GeneReviews on Angelman Syndrome by C.A. Williams and D.J. Discoll AS is a rare, non-degenerative, genetic condition; general health is usually fairly good, and life-span is near average.
Diagnostic tests of Angelman Syndrome has not been added yet
AS is often misdiagnosed as Autism or Cerebral Palsy. To ensure the best care and treatment, seek a genetic diagnosis. Early and continued participation in therapies such as: Physiotherapy (PT) Occupational Therapy (OT) Speech Language Therapy (SLT) Treatment for feeding/reflux (Gastroenterology) Treatment for epilepsy (Neurology) can significantly improve the prognosis.
AS adults will need to be looked after their whole life. There are many different solutions to this, and it can be approached from many different perspectives depending on the family situation, involvement, finances and cultural values.
Tips or Suggestions of Angelman Syndrome has not been added yet.
References of Angelman Syndrome has not been added yet.
Diagnosis Created by RareshareTeam
Last updated 7 Aug 2018, 11:46 PM

Posted by RareshareTeam
7 Aug 2018, 11:46 PM

Check out this article about Nash Molloy, the "happiest kid you will ever meet."

Nash's parents knew something was wrong when he couldn't move properly at six months.  Shortly thereafter, he was diagnosed with Angelman Syndrome.  Do you remember when you first learned of your child's diagnosis?  How did you cope with the news?

https://www.9news.com.au/national/2018/07/01/17/04/nash-molloy-angelman-syndrome

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Participate in Research Study on Angelman Syndrome Created by deepask1
Last updated 24 Sep 2016, 05:03 PM

Posted by deepask1
24 Sep 2016, 05:03 PM

RESEARCH STUDY: Angelman Syndrome investigators at University of California San Diego are partnering with facial recognition software developers to attempt to create a program that will assist doctors in recognizing Angelman Syndrome as early as possible so therapies can begin. This software, if successful may assist doctors in knowing which of their nonverbal and/or happy patients with intellectual disability should be tested. Patients with Angelman Syndrome and their siblings are needed. Please see below for more details. p=. What for? To develop a facial recognition software program that can help identify Angelman syndrome and Angelman-like syndromes p=. Why? To help clinicians decide what testing to order so that accurate diagnoses can be made as early as possible p=. What? Photos of faces taken from the front and/or from the side (profile) with any digital camera (not scanned images), for which you know the date of the photo p=. Who? Any child with *** syndrome and his/her siblings (controls are just as important!) p=. How? Contact Rachel Winograd, RN at 858-966-8453 or by email at HYPERLINK "mailto:rwinograd@rchsd.org" rwinograd@rchsd.org for more information or to enroll. Images can be e-mailed. Hints: 1. relaxed faces (neither smiling nor frowning) are best, but any will do 2. whole body photos are okay, we can crop out what isn’t needed 3. photos with other people in the are also okay, we can crop them out 4. any age okay, even babies!

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Walking Created by dylanandlukesmum
Last updated 6 Nov 2011, 12:08 AM

Posted by kiwimum
6 Nov 2011, 12:08 AM

Hi fellow angel mum, MANY angelman children ARE able to walk , in fact some can even jump and run. Those that struggle with walking do so for many different reasons, eg. balance issues, muscular tension/looseness, and also sometimes problems with vision/depth perception. Very few dont walk at all. 2 is still very young, as many AS kids continue to learn to walk till as late at 6. Has your son crawled yet? There is a great international listserve/forum for the angelman community where many more folk can respond to your questions on a daily basis. My son is 15 years old and is one of the few who has skeletal issues - so he has had 2 orthotic operations, to help improve his gait. Hope this helps.

Posted by dylanandlukesmum
20 Feb 2011, 04:26 PM

Hi! My son shows all clinical symptoms - that is except for seizures and severe ataxic walking. He is only 2. We are currently waiting for the confirmation of his diagnostic tests, but I was wondering - are all kids with AS _unable_ to walk? He is ataxic with wide-spaced gait and arms up; but that is when he is trying to control his gait. I'm just wondering if there is such a thing as a child with AS who can walk unassisted. Thanks!

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Community External News Link
Title Date Link
Angelman Syndrome: Angelman Syndrome: The rare condition stopping kids from walking and talking - nine.com Australia 07/21/2018
AI technology can identify genetic diseases by looking at your face, study says 01/15/2019
Ultragenyx Announces Partnership with GeneTx to Advance Treatment for Angelman Syndrome 08/17/2019
Angelman Advocate Launches ‘Combined Brain’ Rare Disease Consortium 12/12/2019
Should Dave Open the Refrigerator? RAREwithCOVID Can Help Decide 04/19/2020
Should Dave Open the Refrigerator? RAREwithCOVID Can Help Decide 05/10/2020
What Is Angelman Syndrome? Everything to Know About the Rare Genetic Disorder Colin Farrell’s Son James Has 08/10/2024
Community Resources
Title Description Date Link
The Angelman Network

This is one of many links that can provide up-to-date info on Angleman Syndrome. The Angelman Network is based in New Zealand.

 03/20/2017
A Clinical Guide

This is a recent up-dated Clinical Guide - useful to print out and pass on to your child's specialists, teachers, etc.

 03/20/2017

Clinical Trials

Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit sanfordresearch.org/CoRDS to enroll.

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rwinograd
I work in Research at Rady Children's Hospital San Diego with Dr. Bird. We see patients with Angelman Syndrome as well as other syndromes.
acrobrat
Pediatric Physical Therapist specializing in rare conditions and multiple disabilities
deepask1
Program Manager, Scientific Programs, RareShare
johnark
kiwimum
music4life6661
I'm 19 years old, living in Oklahoma. I'm in my second year of college, and am double-majoring in Forensic Science and Funeral Service. I enjoy playing the piano , guitar, and singing; going to...
Pattyt
Married 30 years, mother of 2 young men. One is 27 and the other 14 years young. Careers previously centered around breeding, training and schooling horses and training students for high level...
feelawts
dylanandlukesmum
I am the proud mother of two boys. My eldest, Dylan, has classical autism; and my youngest, Lucas, has Waardenburg Syndrome Type IIb - we are still trying to get his hearing assessed to find out...
Warnisch

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Diagnosis

Created by RareshareTeam | Last updated 7 Aug 2018, 11:46 PM

Participate in Research Study on Angelman Syndrome

Created by deepask1 | Last updated 24 Sep 2016, 05:03 PM

Walking

Created by dylanandlukesmum | Last updated 6 Nov 2011, 12:08 AM

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