Tag Archives: AS

Asperger Syndrome

About AS:

  • It is a neurological disorder that affects the way information is processed in the brain.
  • AS is a hidden disability. Many people appear very competent, but they have difficulties in the areas of communication and social interaction.
  • AS has a genetic and hereditary component and may have additional or interactive environmental causes as yet unknown.
  • AS is a developmental disability. All individuals have social/emotional delays, but continued growth seems to be life-long.
  • The incidence of AS is thought to be 1 in 250. As many as 50% of people with AS may be undiagnosed.
  • There are currently four males diagnosed with AS for every one female, but the true ratio may be as high as one female for every two males.

AS affects each person differently, although there is a core set of features that most people with AS have, to different extents:

  • People with AS have normal to very high intelligence and have good verbal skills.
  • Challenges with the use and understanding of language in a social context.
  • Trouble understanding what someone else is thinking and feeling (called theory of mind or perspective taking).
  • Needing to be taught social behavior that is “picked up on” intuitively by others.
  • Difficulty understanding non-verbal cues such as hand movements, facial expressions, and tone of voice.
  • Challenges with organization, initiation, prioritizing, all called executive functioning tasks.
  • Focusing on small details rather than the bigger picture
  • Most people with AS have intense interest areas such as movies, geography, history, math, physics, cars, horses, dogs or reptiles. These interest areas change every 3 months to several years
  • Friendships are usually formed through mutual interest areas or activities.
  • Most people with AS view the world in black and white with difficulty compromising or seeing the gray areas.
  • Most individuals with AS describe themselves as feeling different, like aliens in our world.
  • Anxiety and/or depression are major components for many people with AS and may affect their ability to function.
  • Some individuals with AS have extreme and debilitating hyper- or hypo-sensitivity to light, noise, touch, taste, or smell. The environment can have a profound impact on their ability to function.

Angelman syndrome

Understanding AS
Angelman syndrome (AS) is a neuro-genetic disorder that occurs in one in 15,000 live births. AS is often misdiagnosed as cerebral palsy, autism or Prader-Willi syndrome. Due to these similarities, misdiagnosis is a prevalent problem.

Late or misdiagnosis may cause individuals to lose opportunities for early intervention programs, resources, personalized support and life-saving treatments.

That’s why it’s important to increase awareness and understanding of Angelman syndrome, a disorder that occurs in roughly 1 in 15,000 live births.

Characteristics of the disorder include developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman syndrome will require life-long care.

The Angelman Syndrome Foundation website is the best place to keep abreast of current information regarding research, education, general information and therapies for Angelman syndrome. If you have any questions or would like additional information please email the ASF at info@angelman.org.

Diagnosis
50% of individuals with Angelman syndrome are originally misdiagnosed.

A blood test can detect up to 80-85% of individuals with Angelman syndrome by identifying whether the UBE3A gene is functioning properly.

For the remaining 15-20% of individuals, an experienced clinician who is familiar with Angelman syndrome can provide a clinical diagnosis.

Proper diagnosis is key to providing the best treatment to individuals with neurogenetic disorders – disorders that share similar symptoms including developmental delays, seizures, motor issues, and lack of cooing, babbling, or speech.

Symptoms of Angelman syndrome:

  • Developmental delays – vary from individual to individual
  • Seizures
  • A happy demeanor – frequent laughing, smiling and excitability
  • In infants 0-24 months:
    • Lack of cooing or babbling
    • Inability to support one’s head, pull oneself up to stand, and delayed motor skills
  • In young children:
    • Lack of speech, although some develop the ability to speak a few words
    • Delayed ability to walk, unstable gait or balance issues

 

Facts About Angelman Syndrome
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