Friday, July 31, 2009

Angleman Syndrome Criteria

I've been doing a little looking into Angelman's and wanted to share a little of my findings. We won't get the results of the genetic testing back for a couple of months but we're trying to prepare ourselves in case they come back positive. The bold sections are characteristics/symptoms that we find apply to Joe. There may be more since some of the medical jargon is still foreign to me.

Consensus Criteria or Clinical Symptoms of Angelman Syndrome

The following is an official list of the clinical characteristics of Angelman syndrome. These were derived by Dr. Charles Williams, er al, through the study of a group of individuals with AS and are known as "consensuscriteria".

A. Consistent Characteristics (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 span

B. Frequent Characteristics (more than 80%)
- Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2
- Seizures, onset usually < 3 years of age o Abnormal EEG, characteristic pattern with large amplitude slow-spike waves (usually 2-3/s), facilitated by eye closure

C. Associated Characteristics (20 - 80%)
- Flat occiput (back of head)
- Occipital groove
- Protruding tongue - maybe
- Tongue thrusting; suck/swallowing disorders
- Feeding problems during infancy
- Prognathia (projecting jaw) - maybe
- Hypopigmented skin and eyes
- Wide mouth, wide-spaced teeth
- Frequent Drooling
- Excessive chewing/mouthing behaviors
- Strabismus
- Hypopigmented skin, light hair and eye color (compared to family), seen only in deletion cases *he's pretty pale but so are Isaac and I
- Hyperactive lower limb deep tendon reflexes
- Uplifted, flexed arms during walking
- Increased sensitivity to heat
- Sleep disturbance *sometimes, but I have always attributed it to having an older brother!
- Attraction to/fascination with water

If you are interested check out what Wikipedia has on it. The sections on prognosis and "living w/ Angelman's" were particularly interesting.

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