Angelman Syndrome Symptoms

Angelman syndrome is a neuro-genetic disorder which primarily affects the nervous system. According to physicians Harold Angelman, Characteristic features of this condition are jerky movements especially hand-flapping, flat heads, protruding tongues, and bouts of laughter, developmental delay by the age of 6 to 12 months, sleep disturbance, seizures. People with Angelman syndrome are sometimes known as "angels", because of the syndrome's name and their youthful, happy appearance.

Angelman syndrome affects 1 in every 12,000 to 20,000 live births.

Genetic changes

Many of the features of Angelman syndrome result from the loss of function of a gene called UBE3A that is found on chromosome 15. Generally, everyone has two copies of this gene, one inherit from our mother and one from our father. Only the maternal version of the UBE3A gene is affected in patients with Angelman syndrome. Both maternal and paternal UBE3A are active in most cells and tissues of the body, in some areas of the brain it is only the maternal version but that is active.

There are several different types of UBE3A genetic mutations:

• Chromosomal deletion -This is the big reason of Angelman syndrome where a whole section of the chromosome, including UBE3A is deleted. That’s why, there is no gene at all.
• Paternal disomy - If there are two copies of the paternal chromosome 15, and none of the maternal version. Angelman syndrome will occur if there is only the maternal version of the Angelman gene that is expressed in the brain,
• Mutations of UBE3A gene - small genetic mutations cause the maternal version of the gene to failure.
• Imprinting Centre Problems - a small region of DNA near the UBE3A gene is called the imprinting centre and it controls the gene is switched on or off. Abnormalities in the maternally derived imprinting centre, it can cause of Angelman syndrome.

Angelman syndrome Diagnosis

The diagnosis of Angelman syndrome is based on:

• Unusual movements like fine tremors, jerky movements, hand flapping and a wide-based, stiff-legged gait.
• A deletion on chromosome 15.
• A history of delayed motor milestones and then later a delay in general development, especially of speech
• Characteristic facial appearance (but not in all cases).
• A history of epilepsy and an abnormal EEG tracing.
• A happy disposition with frequent laughter
• In 1995, Diagnostic criteria for the disorder were established collaboration with the Angelman Syndrome Foundation.

Treatment of Angelman syndrome

The epilepsy can be controlled by the use of one or more types of anticonvulsant medications. Angelman Syndrome is associated with having multiple varieties of attacks. .Mild laxatives are also used frequently to encourage regular bowel movements and early intervention. Physical and occupational therapies, communication therapy, and behavioral therapies are important in allowing individuals with Angelman syndrome to reach their maximum developmental potential.

Prognosis

Most patients with Angelman syndrome will have delays in severe developmental. Individuals with Angelman syndrome can have normal life spans and generally, but do not show developmental regression as their age.