Angelman Syndrome

Last updated: February 20, 2020

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Angelman syndrome is a rare genetic and neurological disorder characterized by severe developmental delay and learning disabilities; absence or near absence of speech; inability to coordinate voluntary movements (ataxia); tremulousness with jerky movements of the arms and legs and a distinct behavioral pattern characterized by a happy disposition and unprovoked episodes of laughter and smiling. Although those with the syndrome may be unable to speak, many gradually learn to communicate through other means such as gesturing. In addition, children may have enough receptive language ability to understand simple forms of language communication. Additional symptoms may occur including seizures, sleep disorders and feeding difficulties. Some children with Angelman syndrome may have distinctive facial features but most facial features reflect the normal parental traits. Angelman syndrome is caused by deletion or abnormal expression of the UBE3A gene (ubiquitin protein ligase E3A).

National Organization for Rare Disorders (NORD) with assistance of Charles Williams, MD, Emeritus Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine; member of the Angelman Syndrome Foundation Scientific Advisory Committee.

At this time, therapies for Angelman syndrome are symptomatic and supportive. Several clinical trials on Angelman syndrome are ongoing (see below) but there is no genetic therapy or curative medication available. Advances in neuroscience and in gene therapy techniques however hold great potential for providing meaningful treatment and/or cure of the syndrome.

The general physical health of those with Angelman syndrome is good and usual pediatric care, including customary childhood immunizations, can be provided.

References

For More Information

Learn more about genetics on our Genetic Disorders page.

Synonyms of Angelman Syndrome

  • AS
  • happy puppet syndrome (obsolete)

Canadian Conference on Developmental Disabilities and Autism Call for Papers

Last updated: February 10, 2020

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CCDDA Conference, Winnipeg, Manitoba, Canada

When: October 30 & 31, 2019

Graphic for a Call for papers for the CCDDA conference.

The Canadian Conference on Developmental Disabilities and Autism (CCDDA) is an annual gathering intended to bring together a range of people committed to enhancing quality of supports and services for people with developmental disabilities and autism.

Call for Papers

CCDDA provides a platform to share information, practical tools, and current research to help professionals and decision makers better support the people they serve. You have knowledge, information and best practices to share. We have a group of 550+ conference delegates who will find your presentation valuable! We invite submissions for presentations in one of the following formats:

  • Workshop or Lecture Highly-interactive sessions with a focus on learning and practical skill development. The sessions are 60 minutes long. It is expected that the audience will be engaged and encouraged to participate.
  • Video Poster A series of slides/multimedia with narration to be looped continuously throughout the conference. Approximately 5-8 minutes is ideal.
  • Poster Presentation High-quality evidence and research findings available and understandable to the audience. Printed on paper or cloth, no greater than 120 cm in width or height.

Download our information form to learn more and how to send a submission.