Angelman Syndrome: Symptom, Life Expectancy

Overview

Angelman syndrome (AS) is a genetic condition that primarily affects the nervous system. It’s characterized by

  • speech impairment
  • developmental delay
  • intellectual disability
  • seizures
  • microcephaly (a small head size)
  • ataxia (problems with movement and balance)

Most babies with this condition don’t show signs at birth.

As for children, apart from the characteristic features above, children with Angelman syndrome often have an excitable demeanor. Frequent smiling, laughter, and hand-flapping movements are often seen on them. Besides, hyperactivity, a short attention span, fascination with water, and sleep disorders are also common.

On the other hand, adult patients tend to have facial features that may be described as “coarse”.

Generally, Angelman syndrome affects an estimated 1 in 12,000 to 20,000 people.

 

Life Expectancy

The life expectancy tends to be nearly normal.

 

Cause

It is caused by lack of expression of the UBE3A gene, which can result from various abnormalities of chromosome 15q11-q13.

 

Symptom

Individuals with this syndrome may have the following signs or symptoms

  • speech impairment
  • developmental delays, including no crawling or babbling at 6 to 12 months
  • intellectual disability
  • seizures, usually beginning between 2 and 3 years of age
  • ataxia (difficulty walking, moving or balancing well)
  • hyperactivity
  • microcephaly (a small head size)
  • sleep disorders
  • movement and balance disorders
  • tongue thrusting
  • hypopigmentation (hair, skin and eyes that are light in color)

 

Diagnosis

A definitive diagnosis is made through a genetic test.

 

Treatment

There is no specific treatment for Angelman syndrome. General therapies can be divided into

  • medical therapy
  • physical and occupational therapies
  • communication therapy
  • behavioral therapies

 

Keywords: Angelman syndrome; AS.

 

Related Post:

What Are the Facts about Angelman Syndrome?

* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.