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Angelman Syndrome

Definition


Disease: Angelman Syndrome Angelman Syndrome
Category: Genetic Diseases
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Disease Definition:

Angelman syndrome is a genetic disorder that causes neurological problems and developmental disabilities, such as difficulty in balancing, walking, speaking and in some cases, seizures. In people with Angelman syndrome frequent smiles and outbursts of laughter are common, and most of them have happy and excitable personalities.

Parents don’t detect Angelman syndrome in their children until they begin to notice developmental delays when their baby is about 9 to 12 months old, because this condition doesn't cause any signs at birth. Usually, seizures begin when the child is between 2 and 3 years old.

Although there are medications and other therapies for this disorder, but it has no cure.

Work Group:


Prepared by: Scientific Section

Symptoms, Causes

Symptoms:

Common signs and symptoms of Angelman syndrome are:

 

  • Minimal or lack of speech
  • Developmental delays, such as lack of crawling or babbling at 9 to 12 months
  • Trembling movement of arms and legs
  • Mental retardation
  • Ataxia, which is the inability to move, walk or balance
  • Happy, excitable personality
  • Frequent smiling and laughter


Some of the other signs and symptoms of Angelman syndrome might include:

 

  • Tongue thrusting
  • Microcephaly (small head size)
  • Flatness in the back of the head
  • Jerky or stiff movements
  • Strabismus, which is the crossing of the eyes
  • Walking with arms up in the air
  • Hypopigmentation, which is a light pigmentation in hair, eyes and skin
  • A lower jaw that juts out
  • Seizures that begin between the ages of 2 and 3

Causes:

Genes are segments of DNA that provide the blueprints for all of a person's characteristics. A person receives these genes from their parents and they occur is pairs, one copy comes from the father, called the paternal copy, and one copy comes from the mother, called the maternal copy.
Angelman syndrome is a genetic disorder that results if there are problems with a gene that is located on chromosome 15 called UBE3A (the ubiquitin-protein ligase E3A) gene.

Information from the maternal copy and the paternal copy of each gene pair are used by the cells, meaning that both genes in a pair are usually active. However, there are a small number of genes in which only one copy of a gene pair is active and the activity of each gene copy depends on whether it was passed from the mother or the father. The parent-specific gene activity is called imprinting. When the copy that is usually active in these genes is defective or missing, problems will be caused in the characteristics and functions controlled by that gene.

Typically, only the maternal copy of the UBE2A gene is active in the brain. In some rare cases, Angelman syndrome is caused when instead of one paternal and one maternal copy, two paternal copies of the gene are inherited (paternal uniparental disomy), but in most cases the cause is the absence or damage of a part of the maternal chromosome 15 that contains this gene.

Complications

Complications:

Hyperactivity:
The attention span of many children is very short and most of them have increased motor activity. They move quickly from one activity to another and keep their hands or toys in their mouths.
Hyperactivity is usually decreased with age in children with Angelman syndrome and medication is rarely necessary.

Feeding Difficulties:
Because of an inability to coordinate sucking and swallowing, some infants with this disorder might have problems feeding in the first few months, in which case the mother may be recommended a high-calorie formula in order to help her baby gain weight.

Sleep Disorders:
A person with Angelman syndrome may need medication and behavioral therapy to help control sleep disorders, because having abnormal sleep-wake patterns and needing less sleep than normal is common with this syndrome.

Treatments:

Unfortunately, there is no cure for Angelman syndrome because there is no way to repair chromosome defects. Managing the medical and developmental problems that the chromosome defects cause is what treatment focuses on. To manage the signs and symptoms of a child with this syndrome, it is most likely that a team of health care professionals will work with him/her.

Treatment for this disorder may include:

Anti-seizure medication:
This may be necessary to control the seizures caused by this disorder.

Communication therapy:
This type of therapy might be helpful, even though people with this syndrome usually don’t develop verbal language beyond simple sentences. Nonverbal language skills could be developed through sign language and picture communication.

Physical therapy:
A physical therapist may help a child with this disorder to overcome movement problems and walk better.

Behavioral therapy:
Children with Angelman syndrome can overcome the short attention span and hyperactivity, which can aid in developmental progress with behavioral therapy. Many people with this disorder are outgoing and able to build relationships with friends and family, but the level of development that people achieve varies widely.

Prognosis:

Not Available

Expert's opinion

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