Angelman Syndrome

congenital condition that causes intellectual disability and uncoordinated movement

aadc dopamine deficiency
60 %

Normal
Life Expectancy

0 +

Cases
Worldwide

1

Case Per
10,000-12,000

6 mo.

Avg. Age
of Onset

Congenital Genetic Disorder

Angelman Syndrome (AS)

Angelman syndrome is a genetic disorder that primarily affects the nervous system. AS typically results from the loss of function of a gene located on the copy of chromosome 15, inherited from the mother. It can lead to developmental delays, intellectual disability, severe speech impairment, movement and balance problems (ataxia), small head size, epilepsy and recurrent seizures.

Patients with Angelman syndrome typically show have an excitable, happy, demeanor often smiling, laughing and gesturing enthusiastically with their hands. For these reason it’s some times referred to as happy puppet syndrome.

About Angelman Syndrome
About Angelman Syndrome

Angelman Syndrome Symptoms

Although AS may present similar symptoms as Autism it is not officially listed on the Autism Spectrum disorder. And despite posing certain difficulties along the way, with supportive treatment the prognosis of AS is rather positive, with most living a long and happy life with varying amounts of support.

The common symptoms of AS, which after around approximately 80% to 99% of patients, include:

  • Learning disabilities & Delayed development
  • Speech development issues,
  • Clumsiness
  • Wide-based gait/walk
  • Ataxia (impaired balance or coordination).
  • Seizures

It’s also known that AS can cause specific facial features to develop. These include:

  • Abnormally small head (microcephaly)
  • A short and broad skull (brachycephaly)
  • Abnormally large tongue (macroglossia
  • Wide mouth and/or a big lower jaw (mandibular prognathia).
  • Widely spaced teeth.

In addition, there are distinctive behavioral issues can often arise. These can include:

  • An excitable, happy manner
  • Frequent smiling and laughing
  • Hyperactivity and a short attention span
  • Excited hand-flapping motions
  • Sleeping problems
  • A fascination with water

 

Angelman Syndrome (AS)

Causes

Angelman Syndrome (AS) Diagnosis

Since AS has such a wide variety of symptoms and severity, which often aren’t apparent at birth, it often goes unnoticed until ages 1-4, when it’s commonly spotted.

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Angelman Syndrome (AS) Treatments

Unfortunately there is no current cure for AS, instead healthcare is focused on managing specific symptoms, often utilizing multiple specialists to develop the most effect treatment methods.

AS Treatments

Treatment often employs the efforts of experts including:

  • Pediatricians
  • Neurologists
  • Nutritionists
  • Behavioral therapists
  • Speech-language pathologists
  • Occupational and physical therapists
  • Gastroenterologists

Together this team will devise a suitable plan for the patient.

AS Symptom Management

Symptom management may include interventions and treatments like:

Have questions?

Angelman Syndrome Frequently Asked Questions

Currently there is no cure for AS. However, recent advancements in medical technology lead researchers to claim confidently that a cure will be developed in the future.

If you’re family is at risk of having a newborn with AS, genetic counseling is highly advised so you can better prepare for the news, and potential life changes you may have to make.

It is estimated that 1 in 12,000 to 20,000 people in the US develop AS, and approx. 500,000 people worldwide.

Most patients with AS can expect to live full lives with treatment and learning to manage their symptoms. However, if left untreated or mismanaged, there can be serious medical complications that can lead to serious injury and even death.

Fortunately, with modern treatments it’s possible to live and long and reasonably healthy life with AS. It will require support and often assistance, however it doesn’t have to be a drastically life changing experience.

Talk to your doctor about online resources, and if you’re lucky, local support groups, Whilst you might not find much in the way of local groups to attend, the online medical community can be extremely helpful, especially when trusted reputable sites.

Check out the follow resources for more information on patient groups, advocacy groups and clinical trials:

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