Angelman Syndrome, also known as "happy doll syndrome", is a neurological disorder of genetic origin that causes mental deficiency, speech impairment or absence, epilepsy, delay in neuropsychomotor development, behavioral changes, among other signs and symptoms.
The disease is caused by an anomaly in a gene transmitted by the mother. Most cases of Angelman Syndrome occur when a part of the maternal chromosome 15 is deleted.
Two common features of Angelman Syndrome are to walk unbalanced, with legs extended and more distant than normal, and constant smile of patients. These characteristics led the discoverer of the syndrome to call it "Happy Puppet Syndrome".
Angelman Syndrome is characterized by a severe delay in mental development, severe speech impairment, imbalanced walking, seizures, and the typical behavior of laughing often with excitement.
At convulsions begin when the child is approximately 1 ½ years old and usually accompanied by High fever.
Patients with Angelman Syndrome physical characteristics peculiar. The mouth is large, the chin is prominent, the teeth are more spaced and the tongue is usually out of the mouth (protuberant tongue).
The signs and symptoms of Angelman Syndrome become clearer from the 2 or 3 years of age. However, in some cases, it is already possible to observe developmental delays between the 6th and 12th month of life.
The diagnosis of the syndrome should be made by a neurologist or geneticist.
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