Rett syndrome

A genetic condition affecting mainly girls, where early skills are lost. Understanding is far greater than movement suggests.

What it is

Rett syndrome is caused by a change in the MECP2 gene on the X chromosome. It affects around 1 in 12,000 girls, and very rarely boys.

Development appears typical for the first six to eighteen months. Then skills are lost: purposeful hand use goes, spoken language goes, and characteristic hand-wringing movements appear.

Here is the thing that matters most, and that is missed most often: cognition is far better preserved than the outward presentation suggests. Girls and women with Rett syndrome understand a great deal, and eye-gaze technology has demonstrated this repeatedly in people who were assumed to understand almost nothing.

Signs you might notice

Loss of purposeful hand skills, replaced by wringing, wringing, clapping or mouthing.

Loss of spoken language.

Slowed head growth. Problems with walking and co-ordination.

Breathing irregularities while awake: breath-holding, hyperventilation, air swallowing.

Seizures in most, scoliosis in many, and gut problems including severe constipation.

Intense, purposeful eye contact, which is the person communicating with the tool they still have.

How it can affect day-to-day life

The gap between what a person with Rett understands and what people assume they understand is the central injustice of this condition. Everything else follows from it: being talked over, being given no choices, being offered no communication route.

Scoliosis progresses through childhood and often needs surgery.

Nights are hard. Sleep disturbance is very common and exhausting for the whole family.

Supporting someone well

Presume competence, hard. Talk to the person about age-appropriate things, offer real choices, and wait for the answer.

Use eye gaze. Eye-pointing between two objects is communication, and it is the foundation everything else builds on. Push for a specialist AAC assessment and eye-gaze technology.

Give processing time, far more than feels natural. Apraxia means the intention and the movement are separated by a long delay.

Watch the spine and get scoliosis reviewed regularly.

Treat constipation actively.

Fiducia Talk supports switch scanning and symbol selection, which gives an immediate, free route into choice-making while a specialist eye-gaze assessment is arranged. Fiducia Life holds all about me, which is what stops a new member of staff assuming.

Where to get help

Rett UK provide family support and specialist advice, and their communication guidance is excellent.

Ask for referral to a specialist AAC hub for an eye-gaze assessment. These are NHS-commissioned and under-used.

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