Angelman syndrome

A genetic condition with severe learning disability, epilepsy, no speech, and a genuinely happy disposition.

What it is

Angelman syndrome is caused by loss of function of the UBE3A gene on chromosome 15, inherited from the mother. It affects around 1 in 15,000 births.

It causes severe learning disability, almost always with little or no spoken language, epilepsy in the majority, movement and balance problems, and a characteristic happy demeanour with frequent laughter.

That last feature has caused real harm. The historical name, happy puppet syndrome, was both offensive and misleading, and the sunny disposition leads people to underestimate distress, pain and unmet need. A person who smiles a great deal can still be in pain.

Receptive understanding is consistently better than expressive ability. People with Angelman syndrome understand far more than they can say, and that is the single most useful fact for anybody supporting one.

Signs you might notice

Severe developmental delay, apparent from around six months.

Little or no speech, with much better understanding.

Frequent laughter and smiling, hand-flapping, and an excitable manner.

Ataxic, jerky movements and unsteady walking.

Seizures, usually starting before three, and often difficult to control.

Sleep disturbance, which affects most families profoundly.

Fascination with water, and often with plastic and crinkly textures.

How it can affect day-to-day life

Sleep is the issue families rate as hardest. Reduced need for sleep and frequent waking, sustained over years, is exhausting and it is the commonest reason placements and family capacity reach crisis.

Communication is the other. Without AAC, an adult with Angelman syndrome has no way to say they are in pain, or which they would prefer, or that something has frightened them.

Pain and illness are under-recognised because the person still smiles.

Scoliosis develops in a substantial proportion and needs monitoring.

Supporting someone well

Presume competence and talk to the person about real things. Understanding runs well ahead of expression.

Get AAC in place early and use it consistently. Fiducia Talk is free, supports symbol selection and switch scanning, and can be started today rather than after an assessment. A person who can indicate hungry, sore or no has a different life.

Look for pain whenever behaviour changes, and do not be reassured by smiling.

Take sleep seriously: melatonin, a safe sleep environment, and respite. Family exhaustion is a clinical issue in this condition.

Manage epilepsy carefully with exact timing and a proper seizure record.

Watch the spine, and keep up the annual learning disability health check.

Fiducia Guardian holds the seizure record, medicines, sleep and the whole team, which is what a specialist appointment needs to see.

Where to get help

Angelman UK provide family support and specialist guidance.

Ask for referral to a specialist AAC service, to neurology for the epilepsy, and to a sleep service.

Annual learning disability health check from 14, and orthopaedic review for scoliosis.