Angelman Syndrome: An Overview
Achievement Center of Texas’ Angelman Syndrome Center understands the huge role they play in helping those communicate with their loved ones that have AS. Angelman syndrome, simply abbreviated as AS, is a genetic disorder that occurs in one in 15,000 live births.
It is caused by abnormal function of the gene UBE3A, located within a small region (q11-q13) on chromosome #15. It is often misdiagnosed as cerebral palsy or autism because of lack of awareness. Although presumed to be initially rare, thousands of other cases have gone undiagnosed or misdiagnosed as cerebral palsy, autism, or other childhood disorders.
Characteristics of the disorder include lack of speech, developmental delay, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care and support. Of course, Given this physical and emotional support, those with AS will live sustainable lives.
Signs and Symptoms of Angelman Syndrome
- Severe developmental delay
- Speech impairment - no or minimal use of words
- Movement or balance disorder - Movement disorder can be mild. Unsteadiness, clumsiness, or quick, jerky motions.
- Behavioral uniqueness - any combination of frequent laughter/smiling, apparent happy demeanor, easily excitable personality, often with hand flapping movements.
- (More than 80% of cases): Delayed, disproportionate growth in head circumference
- Seizures - onset usually at less than three years of age. Seizure severity usually decreases with age, but the seizure disorder lasts throughout adulthood.
- (20 – 80% of cases): Hypo-pigmented skin - light hair and eye color when compared to family
- Prominent mandible (jaw)
- Increased sensitivity to heat
- Wide mouth, widely spaced teeth
- Obesity in older child
** More information about symptoms can be found here.
You as a loved one know they can hear you, but they can’t form the words to answer. However, their energy keeps them forward and ahead of the game. Their smile is always there no matter what. We will give a voice to your goals and concerns.
When you suspect that your loved one has Angelman syndrome, early diagnosis and intervention is extremely beneficial, especially a year after birth. The good news is, over the years, AS research is better. A physician that knows about or has had patients with Angelman syndrome can be an important resource.
Since Angelman syndrome research is better, educational and behavioral interventions are effective in the areas of communication, education, sleep disturbances, and general behavior. Physical and occupational therapies, speech and language interventions, behavior modification, and parent training are very effective. Alternative or enhanced communication techniques are very effective in individuals with Angelman syndrome.