Description
Angelman syndrome is a genetic disorder that causes neurological problems and developmental disabilities, such as difficulty in balancing the body, walking, talking, and seizures in some cases.
In people with Angelman syndrome and frequent explosions of laughter, and most of them have a happy and vibrant personality. Parents usually do not detect the Angelman syndrome in children until they begin to see delays in the development time of about 9-12 months of age infants.
This syndrome shows no signs at birth. Typically, the seizures started when a child aged between 2-3 years. Although there are medicine and other therapies for this syndrome, but this syndrome could not be cured.
Cause
Genes are segments of DNA that provides the blueprint for all the characteristics of a person. A person receives the gene from their parents, a copy of the father, called a copy of the father, and one copy comes from the mother, who called a copy of the mother.
Angelman syndrome is a genetic disorder that is generated when there are problems with gene located on chromosome 15 gene called UBE3A (ubiquitin-protein ligase E3A).
Information from the maternal and paternal gene copies of each gene pair is used by cells, which means that the two genes in the pair are usually active.
However, there are a small number of genes in which only one copy of a pair of active genes and the activity of each gene copy depends on whether it is inherited from the mother or father.
When copies are normally active in this gene is damaged or missing, problems will arise on the characteristics and functions controlled by that gene. Usually, only the maternal copy of the gene is active in the brain UBE2A.
In some rare cases, Angelman syndrome is caused when, two copies of the gene is inherited father. But in many cases the cause is the absence of or damage to part of chromosome 15 containing this gene's mother.
Symptom
Common signs and symptoms of Angelman syndrome, among others:
1. Less talk
2. Delayed of growth, such as crawling or babbling at 9-12 months
3. Arms and legs shaking movement
4. Mental retardation
5. Ataxia is an inability to move, walk, or balance
6. Has a vibrant personality
7. Often smiling and laughing
Some of the signs and symptoms of Angelman syndrome may include:
1. Stuck out his tongue
2. Microcephalus (small head size)
3. Head Flatness on the back
4. Rigid motion
5. Strabismus, which is the intersection of the eye
6. Hypopigmentation in the hair, eyes and skin
7. Lower jaw more advanced
8. Seizures that began between the ages of 2-3 years
Treatment
There is no cure for Angelman syndrome because there is no way to repair a chromosomal defect. Manage the medical problems and developmental causes of chromosomal defects are the focus of treatment. Treatment for this syndrome may include:
1. Anti-seizure drugs
This medicine may be needed to control seizures caused by this disorder.
2. Therapeutic communication
This type of therapy may help, although people with this syndrome usually do not develop verbal language beyond simple sentences. Nonverbal language skills can be developed through sign language and picture communication.
3. Physical Therapy
A physical therapist can help a child with this syndrome to overcome the problem of motion and to make it work better.
4. Behavioral therapy
Children with Angelman syndrome can overcome unfocused and hyperactive behavior, which can assist in the development process with behavioral therapy. Many people with this syndrome come out and be able to build relationships with friends and family. But the level of development of healing in people with this syndrome varies. Wkwkw
Sources: Epharmapedia
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