What is 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 or autism. 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.
Symptoms of Angelman syndrome include:
-Developmental delays – vary from individual to individual
-A happy demeanor – frequent laughing, smiling and excitability
-Wide mouth, wide-spaced teeth
-Excessive chewing/mouthing behaviors
-Hypopigmented skin, light hair and eye color
-Uplifted, flexed arm position
-Wide-based gait with pronated or valgus-positioned ankles
-Increased sensitivity to heat
-Abnormal sleep – wake cycles
-Attraction to/fascination with water; fascination with crinkly items such as paper or plastic
-Abnormal food related behaviors
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
How to get a diagnosis:
A blood test can detect up to 80-85% of individuals with Angelman syndrome by identifying whether the UBE3A gene, located on the 15th chromosome, is functioning properly.
For the remaining 15-20% of individuals, an experienced clinician who is familiar with Angelman syndrome can provide a clinical diagnosis.
Speech Therapy, Physical Therapy, Occupational Therapy, Hippo Therapy, Aquatic Therapy, ABA Therapy, LGIT (Low Glycemic Index Treatment), and Ketogenic Diet.