{"id":13403,"date":"2012-06-20T18:06:36","date_gmt":"2012-06-20T18:06:36","guid":{"rendered":""},"modified":"2012-06-20T18:06:36","modified_gmt":"2012-06-20T18:06:36","slug":"ANGELMAN-SYNDROME","status":"publish","type":"post","link":"https:\/\/asiancemagazine.com\/?p=13403","title":{"rendered":"ANGELMAN SYNDROME"},"content":{"rendered":"

10 TOYS FOR CHILDREN WITH AUTISIM AND\/OR ANGELMAN SYNDROME<\/em><\/strong>
\n1. TRAMPOLINE
\n2. DANCE MACHINE WITH LIGHTS AND A BEAT
\n3. SPONGE\/NERF BALLS
\n4. BOUNCY CASTLE
\n5. WATER SLIDE
\n6. BABY POOL
\n7. MR. POTATO HEAD GAMES
\n8. DRUMS\/BONGOS\/INSTRUMENTS THAT MAKE NOISE THAT YOU SHAKE, HIT AND\/OR BANG
\n9. CLIMBING EQUIPMENT LIKE FAKE ROCK CLIMBING, MONKEY BARS, ETC.
\n10. BUILDING BLOCKS<\/p>\n

ANGELMAN SYNDROME=WHAT IS IT??<\/em><\/strong>
\nAS 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.<\/p>\n

The following text lists signs and symptoms of Angelman syndrome and their relative frequency in affected individuals:<\/em><\/strong>
\nConsistent (100%)<\/strong>
\nDevelopmental delay, functionally severe
\nSpeech impairment, no or minimal use of words; receptive and non-verbal communication skills higher than verbal ones
\nMovement or balance disorder, usually ataxia of gait and\/or tremulous movement of limbs
\nBehavioral uniqueness: any combination of frequent laughter\/smiling; apparent happy demeanor; easily excitable personality, often with hand flapping movements; hypermotoric behavior; short attention span
\nFrequent (more than 80%)<\/p>\n

Delayed, disproportionate growth in head circumference, usually resulting in microcephaly (absolute or relative) by age 2
\nSeizures, onset usually < 3 years of age\nAbnormal EEG, characteristic pattern with large amplitude slow-spike waves\n\nAssociated (20 – 80%)<\/strong>
\nStrabismus
\nHypopigmented skin and eyes
\nTongue thrusting; suck\/swallowing disorders
\nHyperactive tendon reflexes
\nFeeding problems during infancy
\nUplifted, flexed arms during walking
\nProminent mandible
\nIncreased sensitivity to heat
\nWide mouth, wide-spaced teeth
\nSleep disturbance
\nFrequent drooling, protruding tongue
\nAttraction to\/fascination with water
\nExcessive chewing\/mouthing behaviors
\nFlat back of head
\nSmooth palms<\/p>\n

‘ADAM’ IS A MOVIE ABOUT A LONELY MAN WITH ASPERGER’S SYNDROME WHICH IS SLIGHTLY RELATED BY ENTIRELY DIFFERENT.<\/em><\/strong><\/p>\n

ADAM<\/em><\/strong>
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