Angelman Syndrome Symptoms, Causes, Diagnosis and Treatment

What Is Angelman Syndrome ?

It is an inherited disorder which results in neurological problems and developmental disabilities. An individual suffering from angelman syndrome can have problems related to walking, balancing and speaking. At times, the syndrome also leads to seizures. In addition to its characteristics, frequent laughter and smiles tend to be common for its patients, where majority of them have a jolly, cheerful personality.

Besides, angelman syndrome often goes unnoticed, until parents start observing delays in the development of their baby when he or she is about a year old. Usually, seizures start when the baby is between the ages of 2-3 years. Moreover, patients suffering from angelman syndrome have a normal life expectancy, though they experience sleep problems and get less excitable, which improve gradually. Treatment aims to control developmental and medical problems.

What Are The Symptoms Of Angelman Syndrome ?

Symptoms of Angelman syndrome include:

• Frequent laughter and smiling.
• Intellectual disability.
• Developmental delays for example lack of babbling or crawling at 6-12 months.
• Difficulty to balance, more or walk.
• Jolly, cheerful personality.

In addition to the symptoms of angelman syndrome, some may also develop the following:

• Jerky or tiff movements.
• Seizures.
• Light pigmentation in eyes, skin and hair.
• Tongue thrusting.
• Flatness in the back side of head.
• Small size of head.
• What causes angelman syndrome?
• As mentioned earlier, it is an inherited disorder that is mostly sourced by the defect in a gene.

What Are The Risk Factors Of Angelman Syndrome ?

It occurs rarely, whereas in majority cases, doctors failed to identify as to what leads to the genetic changes, responsible for causing Angelman syndrome. Strangely, many patients do not even have a family history of angelman syndrome.

In few instances, the disease is known to be carried forward from the affected parent to his or her child, which indicates, that having a family history of Angelman syndrome raises the chances of a baby to develop it as well.

What Are The Complications Of Angelman Syndrome ?

Angelman syndrome can lead to a number of complications including:

• Hyperactivity.
• Feeding difficulties.
• Sleep disorders.
• Obesity.
• Curving of spine.

How Is Angelman Syndrome Treatment ?

Developmental delays, in combination with other signs of angelman syndrome helps a doctor doubt the disorder, for example problems with balance and movement. In addition, the doctor will also notice the following symptoms:

• Frequent laughter.
• Small size of the head.
• Flatness in the back side of head.
• To ascertain his doubts, the doctor will need a blood sample from the patient for genetic studies.

How Is Angelman Syndrome ?

Unfortunately, Angelman syndrome is incurable, though researchers are indenting to target certain genes for its treatment. As of today, treatment of angelman syndrome aims to control problems related to development and health of a child. Depending upon the symptoms,its treatment can involve:

• Physical therapy: to cope with the problems related to movement and walking.
• Anti-seizure drugs: for controlling seizures.
• Behavior therapy: helps in development, whilst manage hyperactivity.
• Communication therapy: normally involve picture and language communication.

By : Natural Health News