Recognize 4 causes of Angelman syndrome that causes disability

Given the complex functions of the human body and our habit of moving and breathing without thinking, it is often difficult to imagine that the overall function of humans begins with the disposition of genes that contain DNA. Genetic maps can be compared to areas of the human body. Anomalies in this plan can cause someone to become disabled. For example, genetic disorders on a single chromosome can change the overall function of the human body.

Angelman Syndrome is one of the causes of disability due to genetic disorders. Children with Angelman Syndrome are disabled people who have unique behavior, that is, they often appear to smile, laugh and are always gay. Who would have thought their smile was a form of genetic disorder that has ever been experienced.

This syndrome has been discussed since 1965, but it was only in 1997 that genetic disease caused disability. Humans have 22 pairs of autosomal chromosomes and 1 pair of sex chromosomes. Each pair is a combination of father and mother chromosomes. Chromosomes are actually a series of DNA, and functional groups of DNA are called genes. Angelman syndrome is caused by a mutation in the UBE3A gene located on the 15th chromosome. The exact location is in the q12 region of chromosome 15.

4 Causes of Angelman Syndrome

Several mechanisms are known to cause interference with the UBE3A gene and ultimately cause disability in Angelman syndrome, including:

The loss of q12 region on the mother's chromosome 15, so the UBE3A gene is not found.
This sends a pair of chromosome 15 from the father so that there is no mother chromosome 15. Although the UBE3A gene still exists, chromosome 15, both of which originate from the father, does not match, so the expression of this gene becomes inactive.
Impression failure, where chromosome 15 shows the father signal instead, so gene expression is also inactive.
The UBE3A gene mutation, which is a modification of the UBE3A gene itself, causes dysfunction.

Symptoms of Angelman syndrome

Defects due to Angelman syndrome usually only occur when children are 2 to 5 years old. According to the 2005 consensus, the following symptoms of Angelman syndrome can be found in accordance with cases of this disease.

In 100% of cases found:

Developmental delay with severe dysfunction. Cognitive developmental disorders usually begin to appear in the first year. The average cognitive development of children stops between 24 and 30 months.
Movement and balance disorders: in the form of ataxia (inability to control muscles) or tremors (tremors). Abnormalities of movement may not be too obvious, appearing as an imbalance, neglect or jerk.
Unique Behavior: Children with Angelman Syndrome seem to be always happy, often smile and laugh, are easily happy, hyperactive, often accompanied by shaking movements or agitation.
Speech Disorders: unable to communicate verbally or using only a few words. His ability to communicate nonverbal is better.

In most cases found:

Imbalance of head circumference increases, so that the head appears small (microcephaly) at the age of 2 years.
Convulsions of 3 years. Seizures last throughout life, but attacks decrease with age.

Other signs that may appear:

The back of the head is flat
Tongue out, may be accompanied by difficulty swallowing or sucking
Eating Problems
Mouth and wide teeth look stretched
Cockeye
Sleep patterns are disturbed with little sleep
Flowers for water

Children with Angelman syndrome are included in people with disabilities that force them to depend on others. Family and environmental support is very important for them to live well.