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Follow the maxim of the power that speech possesses and try to awaken consciences, raise broken hearts or seek lost spirits?Today we want you to know a little-known syndrome called Angelman syndrome?Or ‘happy doll syndrome’.
- Aitor is a 20-month-old Spanish boy when his parents told him he wasn’t going for a walk.
- He still didn’t know he had Angelman syndrome.
- Today.
- At age 6.
- He tells his whole life on the Facebook Page created by his parents.
- “Adventures and Unsaventures of a Family with Angelman”.
- Aitor plays football.
- Plays drums.
- Likes to swim.
- Run and play with the computer and loves his brother.
- Urko.
In 1965, the English pediatrician Harry Angelman was the first to discover this syndrome, he listed 3 of his patients with the same characteristics: severe intellectual disability, motor difficulties in speech and excessive laughter. It was 30 years from this brief description to 1987. These people were found to be missing a piece of DNA on chromosome 15.
1. Affects very few people. In addition to the few, doctors do not experience a syndrome that is sometimes confused with other disorders, such as autism or cerebral palsy.
2. The newborn is a normal baby, until the sixth month, when delays in its neurological, motor and intellectual development begin to be noticed, which become even more evident from the first year of life.
3. 60% of them have blond hair and blue eyes for hypopigmentation
Lower to medium cranial waist (microcephaly)
5. Facial features: prominent jaw, wide mouth, sunken eyes, tendency to get out of the tongue.
6. Serious speech problems, tremors in the extremities, seizures?
7) Willingness to be cheerful almost constantly, laughing with laughter, where does the nickname come from?Happy Child Disease? Or Happy Boneco Syndrome, named after pediatrician Hayy Angelman, in 1965.
8. Each case is different and, in 15% of them, the cause is still unknown.
9. The risk of having a second child with Angelman is very high
10. Se can be identified in 85% of cases, thanks to a prenatal diagnosis consisting of a biopsy of coal hairs, or by amniocentesis, but for the remaining 15% there is no response.