Angelman Syndrome is a congenital disorder caused by a gene defect that results to neurological and developmental problems. One most noticeable characteristic of an Angelman Syndrome patient is frequent smiling, laughing, and excitability.
This condition can affect any person of any ethnic background. Symptoms may not be seen among infants but may become visible when they reach 6 to 12 months of age.
Symptoms of Angelman Syndrome
Most children affected with Angelman syndrome usually share common symptoms, such as:
• Developmental delays which are more noticeable at 6 – 12 months such as mental retardation and babbling. At the first months of their lives, children affected by this syndrome usually exhibit feeding problems.
• Speech impairment which disables them to speak properly and understand language easily.
• Movement difficulty and balance disorder which may lead to inability to stand or walk
• Trembling arms and legs
• Hyperactivity
• Short attention span
• Appears very happy and gets excited easily even with no reason
Other symptoms include
• Smaller head size in proportion to the body
• Hyperactivity
• Sleeping problems
• Seizures that may begin around the age of 2 or 3
• Jerky movements
• Crossing of the eyes
• Hypopigmented eyes and skin
• Wide mouth, protruding tongue, wide-space teeth, and drooling
• Mouthing behaviors or excessive chewing
• Walking while arms raised in the air
• Increased heat sensitivity
• Fascination with water
Causes of Angelman Syndrome
This condition is caused by a genetic defect specifically located at chromosome 15 which is called as ubiquitin-protein ligase E3A gene (UBE3A). This gene helps in breaking down proteins within cells. Normally, a person inherits this gene one from the mother and one from the father. The mother’s gene is the most needed copy that actively works in the brain. In the case of an Angelman syndrome patient, the child either has a missing or defective maternal gene or has two copies of the paternal gene.
Risk Factors for Angelman Syndrome
This condition rarely occurs with a likelihood of only 1 for every 12,000 individuals. Though this disorder can be genetically inherited, but almost 75% of affected individuals have no family history of this disorder. The genetic mutation or changes are random occurrences either during the formation of the egg or sperm, or during the beginning of the development of the embryo.
Complications brought by Angelman Syndrome
• During the early months, the child may suffer feeding difficulty due to sucking or swallowing difficulties. This may possibly lead to malnutrition or more development problems.
• Hyperactivity can become an issue especially during the younger years, but this may often decrease as the child grows.
• It’s pretty common for an affected child to develop sleeping disorder which leads to less sleep and abnormal sleeping-waking problems.
Diagnosis of Angelman Syndrome
Diagnosis of the condition may first rely on visible symptoms such as balance and movement difficulty, small size of head, frequent laughter, and flatness at the back of the head. To confirm the diagnosis, a series of blood and generic tests is required such as chromosome analysis, fluorescent in situ hybridization, DNA methylation test, and sequencing of UBE3A gene.
Treatment for Angelman Syndrome
All those affected by Angelman syndrome are expected to enjoy a long life. Treatment and therapies are available to help improve their quality of life; these include anti-seizure medication, physical therapy, communication therapy, and behavior therapy.
Angelman Syndrome Pictures
Check out pictures of Angelman syndrome to see how this syndrome can affect the children
