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.

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.

Not sure about your diagnosis?
Check Your Symptoms
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
What are the support groups for Angelman Syndrome?

There are a variety of support groups available for individuals with Angelman Syndrome.

Angelman Syndrome Foundation: www.angelman.org

Foundation for Angelman Syndrome Therapeutics UK (FAST UK): https://cureangelman.org.uk/

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.

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.

Who are the top Angelman Syndrome Local Doctors?
Pediatric Neurology | Pediatrics | Neurology
Pediatric Neurology | Pediatrics | Neurology
12901 Bruce B Downs Blvd, 
Tampa, FL 
 (21.4 mi)
Languages Spoken:
English
Accepting New Patients

Maria Gieron-Korthals is a Pediatric Neurologist and a Pediatrics provider in Tampa, Florida. Dr. Gieron-Korthals and is rated as an Experienced provider by MediFind in the treatment of Angelman Syndrome. Her top areas of expertise are Angelman Syndrome, Autosomal Dominant Partial Epilepsy with Auditory Features, Seizures, and Memory Loss. Dr. Gieron-Korthals is currently accepting new patients.

Jane S. Gibson
Medical Genetics
Medical Genetics
8150 Chancellor Dr, Suite 110, 
Orlando, FL 
 (87.9 mi)
Languages Spoken:
English

Jane Gibson is a Medical Genetics provider in Orlando, Florida. Dr. Gibson and is rated as an Experienced provider by MediFind in the treatment of Angelman Syndrome. Her top areas of expertise are Angelman Syndrome and Prader-Willi Syndrome.

 
 
 
 
Learn about our expert tiers
Learn More
Medical Genetics | Pediatrics
Medical Genetics | Pediatrics

Orlando Health Medical Group Inc

60 W Gore St, 
Orlando, FL 
 (91.8 mi)
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Aditi Dagli is a Medical Genetics specialist and a Pediatrics provider in Orlando, Florida. Dr. Dagli and is rated as an Advanced provider by MediFind in the treatment of Angelman Syndrome. Her top areas of expertise are Angelman Syndrome and Early Infantile Epileptic Encephalopathy. Dr. Dagli is currently accepting new patients.

What are the latest Angelman Syndrome Clinical Trials?
A Phase 3, Randomized, Double-blind, Sham-controlled Study Investigating the Efficacy and Safety of GTX-102 in Pediatric Subjects with Angelman Syndrome

Summary: The primary objective of this study is to evaluate the effect of GTX-102 in cognitive function in participants with Angelman Syndrome (AS).

Match to trials
Find the right clinical trials for you in under a minute
Get started