Angelman's Syndrome

Angelman's Syndrome

Angelman syndrome is a genetic disorder that affects the nervous system. This condition can cause developmental delays, including movement, balance, and speech. In addition, people with Angelman syndrome often seem to laugh and get excited easily.

The symptoms of Angelman syndrome are quite diverse and can vary for each sufferer. However, the general symptom is a delay in reaching the stage of development that a child of his age should have reached.

Angelman syndrome is relatively rare, which is 1 in 12,000 births each year. Generally, the symptoms of this disorder are only seen when the child is 6 months to 1 year old.

Causes of Angelman's Syndrome

Angelman syndrome is a genetic disorder that can sometimes be inherited from the father or mother. This disease occurs when the UBE3A gene is not formed, is formed incompletely, is damaged, or does not function properly.

The UBE3A gene itself is on chromosome 15. Normally, children will inherit a pair of these genes from their father and mother. This pair of active genes has many functions, including in several parts of the brain. If there is a disturbance or abnormality in the UBE3A gene, the child may experience developmental delays.

The exact cause of the abnormality or gene change is not yet known. However, having a father, mother, or family member with Angelman syndrome can increase the risk of the same condition occurring in a child.

Angelman's Syndrome Symptoms

As mentioned above, the signs and symptoms of Angelman syndrome are usually only seen when a child experiences developmental delays at the age of 6 months to 1 year. For example, a child who should be able to sit up without the help of his parents or start chattering has not been able to do so.

Other signs and symptoms of Angelman's syndrome are usually more evident by the time a child reaches 2 years of age. These signs can vary and are not necessarily the same in every child. However, some common symptoms are:

  • Microcephaly or smaller head size
  • seizures
  • Speech disorders including unable to speak
  • Ataxia or balance and coordination disorders
  • Arms easily shake or twitch without realizing it
  • Loves sticking out the tongue
  • The limbs are stiffer than usual
  • Crossed eyes or strabismus
  • Skin looks pale
  • Lighter hair and eyes
  • Scoliosis
  • Eating disorders, including difficulty chewing and swallowing food

In addition to the symptoms above, children with Angelman syndrome also have a cheerful attitude, easily and often smile or laugh, are hyperactive , and are easily distracted. Some children who have Angelman syndrome can also experience sleep disturbances.

However, these various complaints will decrease as the sufferer ages.

When to see a doctor

Immediately consult a child to the doctor if he experiences the symptoms of Angelman syndrome mentioned above, especially when the child has growth and development disorders. Examination by a doctor needs to be done to find out the cause and determine the right method of treatment.

If your child has been diagnosed with Angelman syndrome, take control according to the schedule given by the doctor.

Diagnosis of Angelman's Syndrome

The doctor will conduct a question and answer session with the parents regarding the complaints experienced by the child, as well as the child's and family's medical history. After that, the doctor will conduct a thorough examination, including assessing the child's growth and development.

To confirm the diagnosis, the doctor will carry out genetic tests to find out abnormalities in the chromosomes. Types of genetic tests that may be done include:

  • Parents' DNA test (DNA methylation ), to look for abnormal genes
  • Fluorescence in situ hybridization (FISH) test , to check for the presence of missing chromosome 15
  • UBE3A gene change analysis test, to see if this gene stops working

Angelman's Syndrome Treatment

Angelman syndrome treatment aims to relieve symptoms and overcome developmental disorders experienced by patients. Some of the treatment methods include:

Drugs

One method of treatment for Angelman syndrome is the administration of drugs. These medicines will be adjusted according to the symptoms that occur. For patients who have seizures, doctors can give anti-seizure drugs, such as valproic acid and clonazepam.

Therapy

In addition to administering drugs, doctors will carry out therapy so that patients can adapt and maximize their abilities. Some of these therapies are:

  • Speech therapy , to develop skills, such as sign language, in patients with speech and communication disorders
  • Behavioral therapy, to help overcome behavioral disorders, such as hyperactivity, difficulty focusing, and easily distracted
  • Physiotherapy , to help improve posture, balance, and walking ability, as well as to prevent muscle stiffness

AIDS

If the patient has scoliosis , the doctor can provide assistance in the form of a brace or perform spinal surgery. Installation of a support device can be done on the lower leg or ankle, to help the patient stand and walk on their own.

Most people with Angelman syndrome experience developmental delays, speech and communication disorders, and movement disorders. However, if treated thoroughly, sufferers of Angelman syndrome can still live a normal life.

Angelman's Syndrome Complications

If not treated immediately, Angelman syndrome can cause complications in the form of:

  • eating disorders
  • Sleep disorders
  • Hyperactive
  • Scoliosis
  • Obesity

Prevention of Angelman's Syndrome

Angelman syndrome is a genetic disorder that is difficult to prevent. If your child has symptoms of Angelman syndrome, check with your doctor to get treatment early. That way, he can adapt well.

Meanwhile, for those of you who are planning a pregnancy and have a history of Angelman syndrome in your family, do a genetic screening to find out the risk of passing on Angelman syndrome to your child in the future.

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