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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 usually when development problems are first noticed.

Causes

This condition involves the gene UBE3A. Most genes come in pairs. We inherit one from our mother and one from our father. Usually, both genes are active. This means information from both genes is used by our cells. With the UB3A gene, both parents pass it on, but only the gene passed on from the mother is active.

Angelman syndrome usually occurs because the UBE3A gene passed on from the mother doesn't work the way it should. In some cases, AS is caused when two copies of the 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.

Symptoms

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 6-12 months. This is when parents may notice a delay in their child's development, such as not crawling or starting to talk.

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

Exams and Tests

Genetic tests may diagnose Angelman syndrome. These tests look for:

  • Missing pieces of chromosomes
  • DNA test to see if copies of the gene from both parents are in an inactive or active state
  • Gene mutation in the mother's copy of the gene

Other tests may include:

Treatment

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

Support Groups

Angelman Syndrome Foundation: www.angelman.org

Nina Foundation: www.ninafoundation.eu

ASSERT: www.angelmanuk.org

Outlook (Prognosis)

People with AS live close to a normal lifespan. Many have friendships and interact socially. Treatment helps improve function, but 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 group home.

Possible Complications


  • Severe seizures
  • Gastroesophageal reflux (heartburn)
  • Scoliosis (curved spine)
  • Accidental injury due to uncontrolled movements

When to Contact a Medical Professional

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

Prevention

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 health care provider before becoming pregnant.

References

Angelman H. 'Puppet' children. A report of three cases. Dev Med Child Neurol. 1965;7:681-688.

Clayton-Smith J, Laan L. Angelman syndrome: a review of the clinical and genetic aspects. J Med Genet. 2003;40(2):87-95.

Dagli A, Williams CA. Angelman Syndrome. In: Pagon RA, Bird TD, Dolan CR, et al, editors. GeneReviews [serial online] University of Washington; Seattle, Wa; 2011. 

Dan B. Clinics in Developmental Medicine: Angelman Syndrome. London, UK: Mac Keith Press; 2008.

Mabb AM, Judson MC, Zylka MJ, Philpot BD. Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes. Trends Neurosci. 2011;34(6):293-303.

Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA and others. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A. 2006;140(5):413-8.

Williams CA, Driscoll DJ, Dagli AI. Clinical and genetic aspects of Angelman syndrome. Genet Med. 2010;12(7):385-95.

Updated: 9/23/2013

Charles A. Williams, MD, Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.


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