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Angelman Syndrome

The history, cause and symptoms of the birth defect known as angelman syndrome.
by

Jose Valenzuela

on 28 September 2012

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Transcript of Angelman Syndrome

Angelman Syndrome History How it happens and it's variations A. Consistent Characteristics (100%)
o Developmental delay, functionally severe
o Speech impairment, none or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
o Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs
o 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%)
o Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2
o 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%)
o Protruding tongue
o Feeding problems during infancy
o Hypopigmented skin and eyes
o Wide mouth, wide-spaced teeth
o Frequent Drooling
o Excessive chewing/mouthing behaviors
o Hypopigmented skin, light hair and eye color (compared to family), seen only in deletion cases
o Hyperactive lower limb deep tendon reflexes
o Uplifted, flexed arms during walking
o Increased sensitivity to heat
o Sleep disturbance
o Attraction to/fascination with water
and more The first to have even conceived the thought of Angelman Syndrome was a Dr. Harry Angelman. Found in a medical paper he had published in 1965. He had initially called it "Happy Puppet Syndrome"(explained later) but was switched to Angelman Syndrome Years later. Dr. Angelman passed on in August 08, 1996, and his work was only validated around the 1990's but was given no doubt to be real in the recent decades. Short and sweet it has been learned that around 1 of 20,000 children have this defect at birth. Deletion (~78% of cases) - in this variation we have the mother chromosome 15 just missing and the father chromosome 15 having to duplicate itself but lacking in the UBE3A supplied by the mother Chromosome.
Mutations (~11% of AS cases) - the gene UBE3A suffers a mutation that keeps it from functioning at all and thus the brain lacks the function it provides. Uni Parental Disomy (UPD; ~7% of As cases) - this happens basically when the mother chromosome 15 is "blank" and the father has to replicate itself to fill in the gap.
Imprinting Defect (~3% of AS cases) - The mother chromosome had lost the ability to imprint or imprinting fails which causes UBE3A to not activate or express itself.
Other (~11% of AS cases) - all test for the formentioned causes of AS have tested negative but subjects still display AS symptoms and are treated so. What AS causes By Jose D. Valenzuela The name "Happy Puppet Syndrome" was inspired by a painting by Gian Francesco Caroto and by the behavior of the three separate patiences. Which had been that with no reason they would tend to jerk around randomly like puppets on strings and they were also consistently happy no matter what, they had a marionette like walk and similar facial features. Angelman Syndrome occurs from the maternal chromosome 15 with a piece of it known as the UBE3A gene but through four possible ways. Deletion, mutation, UPD, and imprinting. within all cases, except mutation, they are not hereditary and are completely random. Each lead to different variations of symptoms but all contribute to the same syndrome.
UBE3A - helps your body digest proteins and rid of unnecessary and damaged proteins. It plays a vital role to the development and function of the nervous system. Also this gene is found in every part of the body but only the piece provided by the mom activates in the brain which is why it is so important
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