Learn About Angelman Syndrome

What is the definition of Angelman Syndrome?

Angelman syndrome (AS) is a genetic condition that causes problems with the way a child's body and brain develop. The syndrome is present from birth (congenital). However, it often isn't diagnosed until about 6 to 12 months of age. This is when development problems are first noticed in most cases.

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What are the causes of Angelman Syndrome?

This condition involves the gene UBE3A.

Most genes come in pairs. Children receive one from each parent. In most cases, both genes are active. This means information from both genes is used by the cells. With the UBE3A gene, both parents pass it on, but only the gene passed on from the mother is active.

Angelman syndrome most often occurs because UBE3A passed on from the mother doesn't work the way it should. In some cases, AS is caused when two copies of UBE3A gene come from the father, and none come from the mother. This means neither gene is active, because they both come from the father.

What are the symptoms of Angelman Syndrome?

In newborns and infants:

  • Loss of muscle tone (floppiness)
  • Trouble feeding
  • Heartburn (acid reflux)
  • Trembling arm and leg movements

In toddlers and older children:

  • Unstable or jerky walking
  • Little or no speech
  • Happy, excitable personality
  • Laughing and smiling often
  • Light hair, skin, and eye color compared to rest of family
  • Small head size compared to body, flattened back of head
  • Severe intellectual disability
  • Seizures
  • Excessive movement of the hands and limbs
  • Sleep problems
  • Tongue thrusting, drooling
  • Unusual chewing and mouthing movements
  • Crossed eyes
  • Walking with arms uplifted and hands waving

Most children with this disorder don't show symptoms until about 6 to 12 months. This is when parents may notice a delay in their child's development, such as not crawling or starting to talk.

Children between 2 and 5 years of age start to show symptoms such as jerky walking, happy personality, laughing often, no speech, and intellectual problems.

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What are the current treatments for Angelman Syndrome?

There is no cure for Angelman syndrome. Treatment helps to manage health and development problems caused by the condition.

  • Anticonvulsant medicines help control seizures
  • Behavior therapy helps manage hyperactivity, sleep problems, and development problems
  • Occupational and speech therapy manage speech problems and teach living skills
  • Physical therapy helps with walking and movement problems
Who are the top Angelman Syndrome Local Doctors?
Elite
Highly rated in
11
conditions
Pediatrics
Medical Genetics

Anesthesia Service Medical Group, Inc.

7920 Frost St 
San Diego, CA 92123

Lynne Bird is a Pediatrics specialist and a Medical Genetics doctor in San Diego, California. Dr. Bird has been practicing medicine for over 35 years and is rated as an Elite doctor by MediFind in the treatment of Angelman Syndrome. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Angelman Syndrome, Weaver Syndrome, SHORT Syndrome, and Sotos Syndrome. She is licensed to treat patients in California. Dr. Bird is currently accepting new patients.

Elite
Highly rated in
13
conditions
Pediatrics
Medical Genetics

The University of Kansas Health System

The University Of Kansas Hospital

4000 Cambridge St 
Kansas City, KS 66160

Merlin Butler is a Pediatrics specialist and a Medical Genetics doctor in Kansas City, Kansas. Dr. Butler has been practicing medicine for over 44 years and is rated as an Elite doctor by MediFind in the treatment of Angelman Syndrome. He is also highly rated in 13 other conditions, according to our data. His top areas of expertise are Angelman Syndrome, Prader-Willi Syndrome, Aminoaciduria, and 15q11.2 Microdeletion. He is licensed to treat patients in Missouri. Dr. Butler is currently accepting new patients.

 
 
 
 
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Elite
Highly rated in
12
conditions

University Of Duisburg Essen

Essen University Hospital 
Essen, NW, DE 

Karin Buiting is in Essen, Germany. Buiting is rated as an Elite expert by MediFind in the treatment of Angelman Syndrome. She is also highly rated in 12 other conditions, according to our data. Her top areas of expertise are Angelman Syndrome, Macroglossia, Beckwith-Wiedemann Syndrome, and Gigantism.

What are the support groups for Angelman Syndrome?

Angelman Syndrome Foundation: www.angelman.org

AngelmanUK: www.angelmanuk.org

What is the outlook (prognosis) for Angelman Syndrome?

People with AS live close to a normal lifespan. Many have friendships and interact socially. Treatment helps improve function. People with AS can't live on their own. However, they may be able to learn certain tasks and live with others in a supervised setting.

What are the possible complications of Angelman Syndrome?

Complications may include:

  • Severe seizures
  • Gastroesophageal reflux (heartburn)
  • Scoliosis (curved spine)
  • Accidental injury due to uncontrolled movements
When should I contact a medical professional for Angelman Syndrome?

Call your health care provider if your child has symptoms of this condition.

How do I prevent Angelman Syndrome?

There is no way to prevent Angelman syndrome. If you have a child with AS or a family history of the condition, you may want to talk with your provider before becoming pregnant.

What are the latest Angelman Syndrome Clinical Trials?
Italian Angelman Syndrome Registry Protocol
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An Open-Label Study of the Safety, Tolerability, and Pharmacokinetics of Oral NNZ-2591 in Angelman Syndrome
What are the Latest Advances for Angelman Syndrome?
Genetic analysis of a case with mosaicism of a small supernumerary marker chromosome derived from idic(15).
SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review.
Tired of the same old research?
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New genes involved in Angelman syndrome-like: Expanding the genetic spectrum.
Who are the sources who wrote this article ?

Published Date : July 30, 2021
Published By : Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Dagli AI, Mathews J, Williams CA, et al. Angelman syndrome. In: GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2022. 1998 Sep 15 [updated 2021 Apr 22]. PMID: 20301323 pubmed.ncbi.nlm.nih.gov/20301323/.

Kumar V, Abbas AK, Aster JC. Genetic and pediatric diseases. In: Kumar V, Abbas AK, Aster JC, eds. Robbins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018:chap 7.

Madan-Khetarpal S, Arnold G, Ortiz D. Genetic disorders and dysmorphic conditions. In: Zitelli BJ, McIntire SC, Nowalk AJ, Garrison J, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 1.

Nussbaum RL, McInnes RR, Willard HF. The chromosomal and genomic basis of disease: disorders of the autosomes and sex chromosomes. In: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics in Medicine. 8th ed. Philadelphia, PA: Elsevier; 2016:chap 6.