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Angelman Syndrome – Symptoms, Causes, Treatment

What is Angelman Syndrome ?

An angelman syndrome or AS is a disorder that affects the nervous system of an individual wherein there is a developmental delay. This condition is often linked with genetic disorders wherein it features intellectual delay, speech impairment, jerky movement, seizures, sleep disturbance, and happy demeanor.

Angelman syndrome is often noticed in children from 6 to 12 months old because of the delayed developmental growth that the child needs to achieve at this stage. However, the other signs and symptoms that are commonly associated with the disease appear in the early childhood stage.

The condition was first defined by Dr. Harry Angelman in 1965. He observed and described children as having “flat heads, jerky movement, with bouts of laughter.” The child with AS appears to be normal during birth but they have feeding problems in the first few months and then the eventual developmental delays. Then, it is found out that there is a problem with the genes of the child. The chromosome 15 is inactivated or deleted which is inherited on the mother and then the paternal copy is imprinted on the child’s genes. The Prader-Willi syndrome is called as he sister syndrome because of the loss of the paternal genes and the maternal gene is imprinted.

The angelman syndrome is called as the happy puppet syndrome before but today it is not an acceptable term however, physicians would still use this as an informal diagnosis. a person with this syndrome is known as “angels” because they exhibit youthful and happy appearance despite the condition. angelman syndrome affects about 1 in every 12,000 to 20,000 people which makes it a very rare condition.

Angelman Syndrome Symptoms

In children with Angelman syndrome, about 100% or consistent signs and symptoms include:

  1. Speech impairment wherein there is minimal use of words or nothing at all
  2. Developmental delays
  3. Ataxia or balance disorder
  4. Unique behavior wherein the child frequently laughs or smiles, exhibits a happy demeanor, flaps hands frequently, short attention span

On the other hand, about 80% of them may also exhibit:

  • Seizure usually at the age lesser than 3 years old
  • Abnormal EEG
  • A disproportional head circumference- usually microcephaly or small head

Other symptoms include:

  • Swallowing disorders
  • Hyperactive tendon reflex
  • Tongue thrusting
  • Wide mouth with protruding tongue
  • Flat back of head
  • Sleep disturbance
  • Flexed arms when walking
  • Smooth palms
  • Fascination with water
  • Frequent drooling
  • Sensitive to heat

Angelman Syndrome Causes

The angelman syndrome is not inherited but instead, there are random events that occurred during the early embryonic development of the fetus. There is a deletion of the maternal chromosome 15. Instead, the father’s chromosome is imprinted.

Angelman Syndrome Treatment

Genetic disorders are often difficult to treat. However, it is very important to properly diagnose the problem to address the possible needs of the patient. if parents would notice a difference in their child like developmental delays and seizures, it is best to consult the physician so they can be tested. One diagnostic exam done is the Chromosome analysis or the karyotyping. Experts will test the size and the shape as well as the number of chromosomes. The DNA methylation test would reveal the genetic imprinting pattern and they will see which gene is defective.

Finally, to diagnose Angelman syndrome, they physicians will base it on:

  • The history of the delayed developmental milestones which should be present in the child with regards to their age.
  • Facial appearance
  • History of epilepsy or abnormal EEG tracings
  • Happy disposition or demeanor. If the child frequently smiles or laughs
  • Inactivity of chromosome 15.
  • Unusual jerky movements like fine tremors, hand flapping, stiff-legged gait.

As of today, there is no permanent cure for the condition since it affects the genes. The treatment and plan of care should focus on minimizing complications and managing the problems.

Physical therapy

They are trained to walk better with the help of physical therapists. They will also be trained to have a good posture and lessen their jerky movements

Anti-seizure medications

It is very important to control the seizure to avoid further neurological damage. Anti-seizure medications are prescribed by the physician and it is important to understand the instructions and proper timing of the medication.

Communication therapy

Patients with Angelman syndrome has difficulty communicating and they don’t develop their ability to speak more than simple sentences. Thus, they are taught to develop their means of communication by sign language and picture communication

Behavioral therapy

Since they have short attentions span and appears to be hyperactive, they need to overcome these problems.

Addressing feeding difficulties

Since they have feeding problems, children with Angelman syndrome can be given a high caloric diet by physicians to that it will help them gain weight and meet the nutritional requirement needed for their age.

Working closely with the health care team

Since children with Angelman syndrome may be overwhelming and depressing at the same time, it is important that parents will find a competitive and dedicated physicians and therapist that will help them identify the child’s needs

Angelman Syndrome Support groups

It is important that parents of children with Angelman syndrome will be able to connect with other family who also experiences the same condition as their child has. In that way, they are able to understand and relate to one another. there are online groups that welcome their new members warmly and forums and updates are posted in the site where it can help them raise their child with Angelman syndrome.

Household training and coping techniques should be done like helping them achieve continence day and night. They can also be trained by using the spoon and fork when eating. parents should remember that Angelman syndrome is not a degenerative disease. So frequent reinforcement of the techniques can lead to child learning. Aside from that, parents should also choose the clothes these children should wear. As much as possible, they should choose clothes with no buttons or zippers.

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