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“Angelman Syndrome: Read About Symptoms, Causes and Treatment.” MedicineNet, www.medicinenet.com/angelman_syndrome/article.htm

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“Angelman Syndrome.” Mayo Clinic, Mayo Foundation for Medical Education and Research, 2 Mar. 2018, www.mayoclinic.org/diseases-conditions/angelman-syndrome/symptoms-causes/syc-20355621

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“Angelman Syndrome - Genetics Home Reference - NIH.” U.S. National Library of Medicine, National Institutes of Health, ghr.nlm.nih.gov/condition/angelman-syndrome#genes

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Most cases of Angelman syndrome are not inherited, affected individuals typically have no ancestral history of the disease disorder.
Occasionally, Angelman syndrome may be inherited from a parent through defective genes. Having family history of the disease can increase the chances of developing Angelman syndrome.

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Many of the characteristic features of Angelman syndrome are a result of loss of function of a gene called UBE3A.
Ubiquitin-protein ligase E3A (UBE3A) is an enzyme in humans encoded by the UBE3A gene. This particular enzyme's function is targeting proteins for degradation within cells.
If the maternal copy of the UBE3A gene is lost due to a gene mutation or a chromosomal change, the offspring will not have any active copies of the UBE3A gene in some regions of the brain.

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Older children typically have large appetites, possibly leading to obesity.

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Abnormal side to side curving of the spine

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Abnormal sleep-wake patterns

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Often decreases with age, medication usually isn't necessary

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Individuals undergo frequent seizures that are unprovoked.

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Difficulty coordinating sucking and swallowing

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Angelman syndrome is named after Harry Angelman, a physician, who first identified it in 1965.

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The loss of gene OCA2 is associated with light-coloured hair and fair skin. The OCA2 gene is located on the segment of chromosome 15 that is often deleted in people with this condition.

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Adults with Angelman syndrome have distinctive facial features that may be described as "coarse", which means not elegantly formed or proportional.

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There is no specific treatment for Angelman syndrome and no cure to repair lost chromosomes. The treatment of Angelman syndrome mainly focuses on managing developmental and medical issues.

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About 70% of Angelman syndrome cases occur when a segment of the maternal chromosome 15 containing the UBE3A gene is deleted.

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About 11% of Angelman syndrome cases are cause from a mutation in the maternal copy of the UBE3Agene.

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In a smaller percentage of Angelman syndrome cases, the condition can be a result of inheriting two parental/maternal copies of chromosome 15 rather than one from each parent. This genetic phenomenon is known as Uniparental Disomy.

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In a rare occurrence, Angelman syndrome can be caused by translocation, or my mutation or defect of the UBE3A gene

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As affected individuals age, they become less excitable and have reduced sleeping troubles. however, intellectual disabilities, speech impairments and ataxia are still present.

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Children often suffer from epilepsy, microcephaly as well as delayed developments. They are commonly hyperactive with a short attention span and a fascination with water.
The majority of affected children suffer from sleeping difficulties but need less than sleep than usual.

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- delayed development
- (severe) speech impairment
- ataxia
- microcephaly

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Angelman syndrome is a rare, complex genetic disorder. It has a greater effect on the nervous system, causing developmental regression, neurological problems and occasionally seizures.

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Angelman syndrome affects an estimated 1 in 12 000 - 20 000 individuals. People with Angelman syndrome generally live a normal life span, however, the disease cannot be cured.

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Diseases Pictures | Health Articles On Diseases, Causes, Symptoms & Treatment

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The summer months can be a great time to enjoy the outdoors, but they can also be a time for increased risk of illness. The hot weather can lead to dehydration, heat exhaustion, and heat stroke. In addition, the summer months are often a time for increased travel, which can ...

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characteristic features include severe speech impairment, developmental regression, intellectual disabilities and ataxia.

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Children who suffer from Angelman syndrome typically have a happy, exciteable personality, usually including frequent laughter, hand-flapping movements and smiling.
Older people with Angelman syndrome are less excitable, have distinctive facial features, scoliosis, and commonly have unusually fair skin and light-coloured hair.

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Typically therapy is needed, regarding the individuals development. Each necessary for affected individuals to reach their full developmental potential.
This includes...
- physical therapy
- occupational therapy
- communication therapy
- behavioural therapy

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the cause of Angelman syndrome are unknown for 10-15% of affected individuals

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Individuals with Angelman syndrome tend to have a normal life. however, early diagnosis and specific therapies help imrpove the individuals quality of life.

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If you're concerned about future pregnancies or a family history of Angelman syndrome, consult your doctor or genetic counsellor for assistance with future family planning.