Wednesday, June 30, 2010

Noel's Clinical Features of Angelman Syndrome

Photo from left to right: Anna (sister), Noel, and Destiny (cousin)

You can find a full list of Angelman Syndrome clinical features on the Angelman Syndrome Foundation website by clicking HERE! I am just listing the ones Noel presents with.

A. Consistent (100%)

1. Developmental delay, severe mental retardation
2. Slight gait, jerky movements, stiffness of the body, not always steady.
3. Happy personality most of the day with lots of laughs and smiles.
4. Easily excited and flaps her arms (I call them angel wings).
5. Non-verbal
6. Able to understand a little of my words, but not able to communicate back.

B. Frequent (almost 80%)

1. Microcephaly (small head) by 10 months old.
2. Seizures-febrile since 1 yr. old, on Topamax by age 5 for non-febrile.
3. EEG with abnormal results

C. Associated (between 20 and 80%)

1. Flat occiput
2. Sticks tongue out sometimes. Born with feeding and swallowing disorders.
3. Widely spaced teeth
4. Lots of drooling
5. Must chew on everything. Everything goes in the mouth. Also has PICA.
6. Sensitive to heat (both food, bath temperatures, and outdoor weather).
7. Doesn't sleep well. No apparent pattern. Doesn't seem to require normal sleep.
8. Fascination with water, plastic, and paper.
9. Constipation

Noel was on acid reflux medication by 2 1/2 months old. She also has an epigastric hernia. She is prone to pneumonia and upper respiratory infections.

No comments:

Post a Comment