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Angelman Syndrome

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The information on this page was derived from the clinical report from Eliza's genetic counselor.

The prevalence of Angelman Syndrome (AS) is one in 12,000-20,000.  AS is characterized by: 1) severe developmental delay or mental retardation; 2) severe speech impairment; 3) gait ataxia and/or tremulousness of the limbs; and 4) a unique behavior with an inappropriate happy demeanor that includes frequent laughing, smiling, and excitability.  In addition, microcephaly (small head) and seizures are common.
The average child with AS walks between two and one-half and six years of age and at that time may have a jerky, robot-like, stiff gait, with uplifted, flexed, and pronated forearms, hypermotoric activity, excessive laughter, protruding tongue, drooling, absent speech, and social-seeking behavior.  Ten percent of children are non-ambulatory.  Sleep disorders are common.  Essentially all young children with AS have some component of hyperactivity.  Infants and toddlers may have seemingly ceaseless activity, constantly keeping their hands or toys in their mouth, moving from object to object.  Parents report that decreased need for sleep and abnormal sleep/wake cycles are characteristic of AS.
Short attention span is present in most.  Language impairment is severe.  Appropriate use of even one or two words in a consistent manner is rare.  Receptive language skills are always more advanced than expressive language skills.  Most older children and adults with AS are able to communicate by pointing and using gestures and by using communication boards.  Effective fluent use of sign language does not occur.
Young adults appear to have good physical health with the exception of possible seizures.  Independent living is not possible for adults with AS, but most can live at home or in home-like placements.  Life span appears to be nearly normal.

Eliza's diagnosis
Deletion Positive
Click the link below to go to the Angelman Syndrome website for more indepth information.

It is important to note that the above information is clinical. 
"Severe Developmental Delay" and "Mental Retardation" are clinical terms.  These descriptions allow families to receive much needed respite and support given from local agencies and governments.
Through observation of Eliza and talking with other parents of Angelman children, they understand far more than what the medical community gives them credit for.  They have full comprehension, are extremely smart and very observant.