Tuesday, October 16, 2007

Angelman Syndrome facts



As you all know, my Jenn is an Angel... Please pass it along.


Now, when you Google AS more information is available. Collin Farrell's story comes up #1 in the news search results. I wanted to send out this bulletin to spread awareness. With this popular celebrity news story the media is misrepresenting Angelman Syndrome.


Here are some facts:

Developmental History and Laboratory Findings

* Normal prenatal and birth history with normal head circumference; absence of major birth defects

*Developmental delay evident by 6 - 12 months of age

*Delayed but forward progression of development (no loss of skills)

*Normal metabolic, hematologic and chemical laboratory profiles

*Structurally normal brain using MRI or CT (may have mild cortical atrophy or dysmyelination)Clinical Features in Angelman SyndromeConsistent (100%)

* Developmental delay, functionally severe

* Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones

* Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs

* Behavioral uniqueness: any combination of frequent laughter/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention spanFrequent (more than 80%)

* Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2

* Seizures, onset usually <>

* Abnormal EEG, characteristic pattern with large amplitude slow-spike wavesAssociated (20 - 80%)

* Strabismus* Hypopigmented skin and eyes

* Tongue thrusting; suck/swallowing disorders

* Hyperactive tendon reflexes

* Feeding problems during infancy

* Uplifted, flexed arms during walking

* Prominent mandible

* Increased sensitivity to heat

* Wide mouth, wide-spaced teeth

* Sleep disturbance

* Frequent drooling, protruding tongue

* Attraction to/fascination with water

* Excessive chewing/mouthing behaviors

* Flat back of head


This information was retrieved from:http://www.angelman.org/angel/index.php?id=75Angelman Syndrome foundation at http://www.angelman.org

2 comments:

Nancy said...

I just love that picture of Matt and Jenn! She is such a sweetie.

Lady Esther said...

We are in the process of getting our daughter Bethany tested for Angelman Syndrome. Could you look at her pictures if you don't mind and tell me if she has characteristics of your daughter? How was she diagnosed? A blip finally came up on the UBE3A gene. Now they are testing my blood and my husband's. thank you much, Esther~ www.mysnugly.com see bethany there.