Notes

Name of the disorder
Angelman syndrome




What happens to the body? List all possible effects on the body.

Developmental delays, including no crawling or babbling at 6 to 12 months
Intellectual disability
No speech or minimal speech
Difficulty walking, moving or balancing well (ataxia)
Frequent smiling and laughter
Happy, excitable personality
People who have Angelman syndrome may also have other signs and symptoms, including:

Seizures, usually beginning between 2 and 3 years of age
Stiff or jerky movements
Small head size, with flatness in the back of the head (microbrachycephaly)
Tongue thrusting
Hair, skin and eyes that are light in color (hypopigmentation)
Unusual behaviors, such as hand flapping and arms uplifted while walking




What is the cause? What kind of mutation? Is it on a specific chromosome? Is it sex-linked? Dominant or recessive?
Angelman syndrome is a genetic disorder. It's usually caused by problems with a gene located on chromosome 15 called the ubiquitin protein ligase E3A (UBE3A) gene.

A missing or defective gene

Normally, only the maternal copy of the UBE3A gene is active in the brain. Most cases of Angelman syndrome occur when part of the maternal copy is missing or damaged





Are there any treatments or cures? Explain

There's no cure for Angelman syndrome. Research is focusing on targeting specific genes for treatment. Current treatment focuses on managing the medical and developmental issues.

A team of health care professionals will likely work with you to manage your child's condition. Depending on your child's signs and symptoms, treatment for Angelman syndrome may involve:

Anti-seizure medication to control seizures
Physical therapy to help with walking and movement problems
Communication therapy, which may include sign language and picture communication
Behavior therapy to help overcome hyperactivity and a short attention span and to aid in development



How is it diagnosed?
Confirming a diagnosis of Angelman syndrome requires taking a blood sample from your child for genetic studies.

A combination of genetic tests can reveal the chromosome defects related to Angelman syndrome. These tests may review:

Parental DNA pattern. This test, known as a DNA methylation test, screens for three of the four known genetic abnormalities that cause Angelman syndrome.
Missing chromosomes. Either a fluorescence in situ hybridization (FISH) test or a comparative genomic hybridization test (CGH) can show if portions of chromosomes are missing.
Gene mutation. Rarely, Angelman syndrome may occur when a person's maternal copy of the UBE3A gene is active, but mutated. If results from a DNA methylation test are normal, your child's doctor may order a UBE3A gene sequencing test to look for a maternal mutation.



What is the epidemiology of this disorder? (Who does it affect? Is it more common in a certain location?)





At least two facts that you found interesting.