Angelman Syndrome (AS) is a neuro-genetic disorder that occurs in 1 in 15,000 live births. AS is often misdiagnosed as cerebral palsy or autism. In most cases, AS is not inherited. A child is born missing a segment of their maternal 15th chromosome.
Characteristics of AS include; developmental delay, lack of speech, seizures, and walking and balance disorders. Individuals with Angelman Syndrome will require life-long care.
Diagnostic Criteria for
Angelman Syndrome
⢠Developmental delay, functionally severe (100%)
⢠Speech impairment, none or minimal use of words; receptive and nonverbal
communication skills higher than verbal ones (100%)
⢠Movement or balance disorder, usually ataxia of gait and/or tremulous
movement of limbs (100%)
⢠Behavioral uniqueness: any combination of frequent laughter/smiling;
apparent happy demeanor; easily excitable personality, often with hand
fl apping movements; hypermotoric behavior; short attention span (100%)
⢠Delayed, disproportionate growth in head circumference, usually resulting
in microcephaly (absolute or relative) by age 2 (80%)
⢠Seizures, onset usually <3 years of age (80%)
⢠Abnormal EEG, characteristic pattern with large amplitude slow-spike
waves (usually 2-3/s), facilitated by eye closure (80%)
⢠Flat occiput (20-80%)
⢠Occipital groove (20-80%)
⢠Protruding tongue (20-80%)
⢠Tongue thrusting; suck/swallowing disorders (20-80%)
⢠Feeding problems during infancy (20-80%)
⢠Prognathia (20-80%)
⢠Wide mouth, wide-spaced teeth (20-80%)
⢠Frequent drooling (20-80%)
⢠Excessive chewing/mouthing behaviors (20-80%)
⢠Strabismus (20-80%)
⢠Hypopigmented skin, light hair and eye color (compared to family), seen
only in deletion cases (20-80%)
⢠Hyperactive lower limb deep tendon refl exes (20-80%)
⢠Uplifted, fl exed arm position especially during ambulation (20-80%)
⢠Increased sensitivity to heat (20-80%)
⢠Sleep disturbance (20-80%)
⢠Attraction to/fascination with water (20-80%)
From: āAngelman syndrome 2005: updated consensus for diagnostic criteria.ā Williams CA
et al, Am J Med Genet A. 2006 Mar 1;140(5):413-8. PMID: 16470747
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