Angelman Syndrome and Sexuality

Brian Murphy, Ph.D. avatar

by Brian Murphy, Ph.D. |

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sexuality and Angelman syndrome

Patients with Angelman syndrome still develop sexually, which raises many important concerns for them and their caregivers as they age.

What is Angelman syndrome?

Angelman syndrome is a rare genetic disorder caused by issues with the UBE3A gene. The UBE3A resides on chromosome 15 and encodes for the ubiquitin-protein ligase E3A enzyme. This enzyme tags other proteins so cells can break them down into their building blocks.

Patients with Angelman syndrome have a missing or faulty UBE3A gene on chromosome 15, which came from their mothers (people normally receive one copy of every chromosome from each parent). In some areas of the brain, only the maternal copy of chromosome 15 is active. If this copy is missing the UBE3A gene or carries a defective UBE3A gene, cells in those areas of the brain cannot produce the appropriate levels of ubiquitin-protein ligase E3A. This leads to the symptoms of Angelman syndrome.

Sexual development in Angelman syndrome

Patients with Angelman syndrome still go through puberty, although it may be delayed by one to three years. Unlike a similar disease called Prader-Willi syndrome — which is caused by a missing or defective portion of chromosome 15 from the father — patients with Angelman syndrome fully develop sexually without the need for hormone therapy.

Pregnancy and Angelman syndrome

Women with Angelman syndrome are fertile, and there is a case in the literature of a woman with Angelman syndrome becoming pregnant with a child with the disease. It is, therefore, important to provide support about sexuality to women with Angelman syndrome.

Education about sexuality

All patients with Angelman syndrome mature sexually. Due to intellectual disabilities and issues with communication, education about sexuality may be difficult. Topics that this education should cover include public vs. private body parts, differences between boys and girls, how babies are made, acceptable social behaviors, and personal boundaries. Female patients should also be instructed on proper hygiene and gynecological care.

Risk of abuse

Since patients with Angelman syndrome often have cognitive and communicative disabilities, they can be at higher risk for sexual assault. National Public Radio obtained unpublished data from the Justice Department that showed that people with intellectual disabilities are sexually assaulted seven times more often than those without a disability. This highlights the need for parents and caregivers to be alert to this type of assault.


Last updated: Oct. 5, 2020


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