Angelman Syndrome

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)

Cute puppies and mental health

Aww. A topic about cute puppies on campus can draw the attention of many people. However, these puppies are on the MIT campus for a serious reason: mental health.

What are puppies and mental health doing on our site? Well, whether or not you have a soft spot for puppies, mental health is an issue that deserves our attention. Our Accessible Techcomm site looks at topics on technical communication with a special focus on accessibility and usability. Technical communication is a career, and as with any career, stress can rear its head along the way. That is one aspect of mental health and wellbeing. Job seekers can also have mental health issues in their portfolio that should cause no concern for future employers and colleagues. Therefore, mental health topics are perfectly legitimate topics to discuss in our community. We like talking about topics such as alt text, but thinking holistically, as I think we should, our well-being and mental health is also just as important to consider in the daily life of a technical communicator. Discussing these sensitive topics raises awareness and understanding about the issues and prejudices.

Think Beyond the Label works to educate businesses and job seekers with disabilities about making a more inclusive workforce and to create opportunities for taking action to do so. One of the faces of disability is mental health.

  • If you are an employer, are you educating yourself about being inclusive and welcoming employees with mental health issues?
  • If you are a job seeker, are you educating yourself about how to present your mental health issues to future employers?
  • If you are in a workplace, are you welcoming and inclusive toward colleagues with mental health issues?

True, there are many types of mental health issues, but anecdotally, I have had techcomm colleagues who were bipolar and I’ve heard tales of stress and depression caused by the job or by life, which was impacting the job. These are things that are happening in our techcomm world right now. We should not be afraid to talk about these issues so that we can provide support where possible and work together to eliminate those stress-causing work situations. The fact that both the CDC and the World Health Organization (WHO) have sites dedicated to mental health ought to make us stop with the shaming and the stigmas and start with the healing and supporting.

No, I didn’t forget the puppies. What I really like about the puppies is that a high-profile place that is full of stress – an institution of higher education – acknowledges the need to do something to raise awareness and educate the community about mental health.

For the full story about the MIT Puppy Lab, read the article, MIT Puppy Lab to open during National Mental Health Awareness Month.

You can always expect tweets from @accesstechcomm on mental health now and then. The topic is not going away any time soon!