ANGELMAN SYNDROME

10 TOYS FOR CHILDREN WITH AUTISIM AND/OR ANGELMAN SYNDROME
1. TRAMPOLINE
2. DANCE MACHINE WITH LIGHTS AND A BEAT
3. SPONGE/NERF BALLS
4. BOUNCY CASTLE
5. WATER SLIDE
6. BABY POOL
7. MR. POTATO HEAD GAMES
8. DRUMS/BONGOS/INSTRUMENTS THAT MAKE NOISE THAT YOU SHAKE, HIT AND/OR BANG
9. CLIMBING EQUIPMENT LIKE FAKE ROCK CLIMBING, MONKEY BARS, ETC.
10. BUILDING BLOCKS

ANGELMAN SYNDROME=WHAT IS IT??
AS is a neuro-genetic disorder characterized by intellectual and developmental disability, sleep disturbance, seizures, jerky movements (especially hand-flapping), frequent laughter or smiling, and usually a happy demeanor. AS is a classic example of genomic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15 while the paternal copy, which may be of normal sequence, is imprinted and therefore silenced. The sister syndrome, Prader-Willi syndrome, is caused by a similar loss of paternally inherited genes and maternal imprinting. AS is named after a British pediatrician, Dr. Harry Angelman, who first described the syndrome in 1965. An older, alternative term for AS, happy puppet syndrome, is generally considered pejorative and stigmatizing so it is no longer the accepted term, though it is sometimes still used as an informal term of diagnosis. People with AS are sometimes known as “angels”, both because of the syndrome’s name and because of their youthful, happy appearance.

The following text lists signs and symptoms of Angelman syndrome and their relative frequency in affected individuals:
Consistent (100%)
Developmental delay, functionally severe
Speech impairment, no 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
Frequent (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 Abnormal EEG, characteristic pattern with large amplitude slow-spike waves Associated (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
Smooth palms

‘ADAM’ IS A MOVIE ABOUT A LONELY MAN WITH ASPERGER’S SYNDROME WHICH IS SLIGHTLY RELATED BY ENTIRELY DIFFERENT.

ADAM

2 thoughts on “ANGELMAN SYNDROME

  • Marisa SungPost author

    NO PROBLEMO COMPADRE!! GLAD TO BEE OF SEW MUCH HELP AND A GREAT PATRONS OF SIZE! 🙂 JUST CALL ME DR. JOAN HOUSECALLS AND REMEMBER AN APPLE (COMPUTER) A DAY KEEPS THE DOCTORS AWAY! LOL

    MANEE AWAKENINGS TOO YUE PATCH ADAMS!

    Reply
  • Anonymous

    Thanks for this, I learned a lot from a topic I never of before.

    Reply

Leave a Reply to Marisa Sung Cancel reply

Your email address will not be published. Required fields are marked *