Angelman Syndrome
What is Angelman syndrome ?
Angelman Syndrome has confounded and confused
the medical community and parents of Angelman
individuals for hundreds of years. Initially presumed
to be rare, it is now believed thousands of Angelman
Syndrome cases have gone undiagnosed or
misdiagnosed as cerebral palsy, autism or other
childhood disorders.
Hope Through Research and Recognition
The first glimmer of hope for diagnosis, and ultimately care and treatment of
Angelman Syndrome came as a result of the work and research of Dr. Harry
Angelman in 1965. The following are clinical characteristics of Angelman Syndrome:
A. Consistent (100%)
Developmental delay, functionally severe
Speech impairment, lack of speech 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 (more than 80%)
Delayed, disproportionate growth in head circumference, usually resulting in
microcephaly (absolute or relative) by age 2
Seizures, onset usually before 3 years of age
Abnormal EEG, characteristic pattern with large amplitude slow-spike waves (usually
2-3/s), facilitated by eye closure
C. Associated (20-80%)
Flat occiput (back of the head)
Occipital groove
Protruding tongue
Tongue thrusting; suck/swallowing disorders
Feeding problems during infancy
Prognathia (projecting jaw)
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
Hyperactive lower limb deep tendon reflexes
Uplifted, flexed arm position especially during ambulation
Increased sensitivity to heat
Sleep disturbance
Attraction to/fascination with water
LINKS/ LIENS
Angelman
