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Angelman syndrome – Pictures, Causes, Life Expectancy, Treatment

Updated on December 2, 2013

Angelman syndrome is an inherited condition characterized by neurological abnormalities and developmental disabilities, such as problems in walking, speaking and balancing, along with occasional seizures. Affected individuals are prone to laughter outburst and repeated smiles. Angelman syndrome patients typically have excitable, happy personalities.

Angelman syndrome generally remains undiagnosed till the developmental delays become visible, usually 6 to one year after birth. Seizures mostly commence in affected infants when they are between 2 and 3 years old.

Symptoms of Angelman syndrome

Some of the characteristic symptoms and signs of this genetic condition are listed below:

  • Affected babies may experience delays in reaching various developmental phases, such as deficient babbling or crawling at an age of six to 12 months, as well as intellectual deficits.

  • Angelman syndrome patients may suffer from ataxia or difficulties in moving, balancing, or walking properly

  • Even minimal speech may be absent

  • Tremors in arms and legs

  • Excitable and happy personalities

  • Persistent laughter and smiles

Other uncommon signs associated with Angelman syndrome are as follows:

  • Microbrachycephaly, or a small head size wherein the back of the head is compressed

  • Spasmodic or stiff movements

  • Strabismus, or crossed eyes

  • Seizures or convulsions that typically commence in infants between the ages of 2 to 3 years.

  • Constant thrusting of the tongue

  • The skin, eyes, and hair may experience hypopigmentation, i.e., they may be of a lighter shade than normal

  • Angelman syndrome patients may walk with their arms held up in the air

Some of the health complications associated with Angelman syndrome are discussed below:

  • Feeding problems: Some babies affected by this syndrome may face difficulties in feeding during the first few months after birth due to incapability in synchronizing sucking and swallowing. Infants who experience feeding problems may be given a high-calorie formula as part of their diet so that they can gain weight.

  • Sleeping anomalies: It is normal for Angelman syndrome patients to experience anomalous sleep-wake patterns as well as other sleep disorders. They also tend to sleep less than normal. Sleeping problems may alleviate in some patients as they grow older. Behavioral therapy and medicines can help manage different sleep abnormalities.

  • Hyperactivity: A lot of infants affected by Angelman syndrome elicit excessive motor activity. They may often place a toy or their hands in their mouths, and quickly move from one activity to another. They may also suffer from a very short attention span. As Angelman syndrome afflicted children grow older, hyperactivity generally tends to diminish, and medical treatment is often not needed.

  • Obesity: Older children affected by Angelman syndrome have a tendency for large appetites which can increase the risk to obesity.

  • Scoliosis or abnormal spine curvature: Over time, some Angelman syndrome patients may experience the anomalous side-to-side curving of the spine associated with scoliosis.

Causes of Angelman syndrome

Angelman syndrome is an inherited disease. It is mostly triggered by mutations in a gene situated on chromosome 15, known as the UBE3A or ubiquitin-protein ligase E3A gene.

It may be noted that genes are the DNA segments which determine the blueprint for all your features, traits, and characteristics. Genes occur in pairs and are received from the parents. One copy is passed on by the father while the other copy is transferred by the mother.

Defective or missing gene copy: Both genes in any pair are generally active. It signifies that the body cells use instructions and information provided by both the paternal and maternal copy in each gene pair. However, only one gene copy in a pair may be active in a few genes. The functions of each gene copy is dependent on its source. Such parent-specific activities of genes is referred to as imprinting. When a gene copy is defective or missing in a pair, then the abnormalities that arise usually affect the functions controlled by that missing gene copy.

In most cases, only the UBE3A gene copy from the mother is present in the brain. Most instances of Angelman syndrome are caused when a section of the chromosome 15 from the mother containing the UBE3A gene gets damaged or is missing. Occasionally, Angelman syndrome may occur when two copies of the gene are passed on by the father, rather than the normal one maternal and one paternal gene copies.

Angelman syndrome is not a common disorder. Scientists are often not aware of the reasons for the occurrence of genetic alterations that eventually cause Angelman syndrome. A majority of individuals affected by Angelman syndrome do not have an ancestral record of the condition. However, it is possible to inherit the disease from any one of the parents. Hence, the presence of a family history of Angelman syndrome can increase the vulnerability of the newborn to developing the disorder.

Treatment of Angelman syndrome

Currently, there are no known methods to medically correct chromosome abnormalities. Hence, there is no cure for Angelman syndrome. Treatment is aimed at controlling the developmental and health-related problems arising from chromosomal defects, and preventing any health complications.

Angelman syndrome and its symptoms will be managed by a team of doctors and specialists. Some of the treatment options for varied anomalies associated with Angelman syndrome are listed below:

  • Angelman syndrome affected children may overcome varied movement difficulties and learn to walk properly via physical therapy

  • Seizures associated with the condition can be controlled with different anti-seizure medications.

  • Short attention spans and hyperactivity can be resolved with behavioral therapy. This will help the developmental progress of children with Angelman syndrome. The level of development differs widely amongst patients, but many tend to eventually live a health social and family life.

  • Individuals affected by Angelman syndrome typically do not develop verbal communication or language skills, other than construction of simple sentences. Communication therapy can help in improvement of language skills, while picture and sign language communication can aid in the development of non-verbal language.

Angelman Syndrome – Life Expectancy

Individuals who suffer from Angelman syndrome have a normal life span. Their life expectancy is nearly normal. Patients may become less impulsive as they grow older. The remaining signs and symptoms tend to persist. Treatment is aimed at controlling the developmental and medical complications.

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