Angelman's Children: Angelman Syndrome
Angels among us
That beautiful smile that every parent want's to see. That sign of happiness, in 1of 100,000 children is something that can change a parents life forever. Angelman Syndrome is a rare neurological condition that affect the normal development of an individual.
The "Puppet Children" as they were called by Dr. Harry Angelman, have a very distinctive happy demeanor, which it also gives them the over all angelic aura.
A baby with this condition may exhibit feeding problems and a small cranium. Also by the age of two, these babies start to develop seizures and delayed development.
For more information on the subject;
What is Angelman's Syndrome
Angelman's Syndrome is a genetic disorder characterized by developmental delays and varied neurological problems. This is considered a very rare condition, where the child appear to be normal at birth, but it's development slows down or even in some cases stops around 3 to 12 months.
Patients have a peculiar happy demeanor and flapping of the arms even some infants. There are only 1 in every 100,000 births that is said to manifest.
Symptoms and early signs
Every case is unique, but there are common symptoms that can be seen once the child starts missing important developmental milestones.
- Feeding problems- has difficulty keeping formula down and tends to have problems with the digestive track. This includes low weight.
- Small circumference of the head- it seams that the physical development stops.
- Jerky body movements
- Speech impairment ( some due to wide mouth and tongue)
- Balance disorders
- Neurological Problems
- Strabismus ( jerky movements of the eyes)
- The deletion or inactivity of the 15 chromosome
- Drooling and prominent mandible
As a rule the cause of Angelman's is linked to the absence of a portion of the 15 chromosome, from the maternal genetic package. Or/ and when it receives two copies of the same chromosome. Meaning is a genetic anomaly that is primarily linked to the absence or mutation of a chromosome.
One of the characteristics of this condition is an abnormal electroencephalogram EEG. This can be an indicator of said neurological problems.
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Living with Angelman's
Angelman's is not a degenerative condition. Many individuals with this condition can improve their living skills with early intervention and therapy. Is important to note that many children will have a hard time walking and other will not walk at all. With the help of medications, the seizures can be controlled and subsequently in many cases they will subside.
How is Angelman's is treated
Sadly there is no cure. Once the diagnose is established, is important to start a therapy regimen in order to maximize results.
- physical therapy
- occupational therapy
- speech therapy
- drug therapy ( for seizures)
An with many developmental and neurological conditions, treatment is key to help these children. There are organizations in the United States, that specialize in this disorder and have links to various support systems all around the country. early intervention is the best way to ensure the quality of life that they deserve.