Rett syndrome

For family education. This resource is not an individual diagnosis or treatment plan. Discuss concerns with an appropriately qualified professional.

What it means

Rett syndrome is a genetic neurodevelopmental condition often recognized when a child loses previously acquired hand skills and spoken language. Movement, communication, breathing patterns, and other body functions may be affected. It occurs mainly in girls, but boys can also be affected. Abilities require careful individual assessment.

Causes and risk factors

Many cases involve a disease-causing change in the MECP2 gene. The change is often new in the child rather than inherited. MECP2 is important for brain function. Not every MECP2-related condition is classic Rett syndrome, and the genetic finding must be interpreted with clinical features.

Signs and everyday impact

After a period of development, a child may lose purposeful hand use or speech and develop repetitive hand movements. Walking difficulties, altered breathing while awake, sleep problems, feeding concerns, seizures, and scoliosis may occur. Limited speech or movement should not be treated as a reliable measure of understanding.

Assessment and diagnosis

A specialist evaluates the developmental course and clinical diagnostic criteria, with genetic testing to support clarification. Assessment also considers other causes of regression. Ongoing review includes nutrition, mobility, breathing, heart rhythm, bone health, seizures, and communication access. Care plans should reflect the child's actual abilities and needs.

Treatment and therapy

Care is multidisciplinary, including seizure management, nutrition, physical and occupational therapy, orthopedic care, and AAC adapted to motor access. Eye-gaze systems may help selected children communicate. Where approved and appropriate, a specialist may discuss trofinetide, including benefits and adverse effects. It is not a cure and does not replace comprehensive supportive care.

Support at home

Offer choices through accessible communication and allow ample response time. Follow individualized positioning, mobility, feeding, and seizure plans. Keep enjoyable social activities part of everyday life. Report discomfort, changed breathing, constipation, and sleep problems, because limited speech may make physical symptoms harder to express.

When to seek help

Seek prompt assessment for skill loss, new seizures, feeding deterioration, or major changes in breathing. Emergency services are needed for severe breathing difficulty, collapse, or prolonged seizures according to the action plan.

Questions for the care team

• Which communication system matches my child's access needs?
• What heart, bone, feeding, and breathing monitoring is due?
• Are any condition-specific treatments appropriate and available?

Terms in plain language

• MECP2: a gene involved in regulating brain-cell function.
• Stereotyped movements: repeated movements with a similar pattern.
• Eye-gaze AAC: a communication system controlled through eye movement.

Podcast preparation

Use this resource to prepare a later episode: define the topic, discuss causes and signs, explain assessment, describe treatment and home supports, then close with urgent signs and a next step.

Myth: little speech means little understanding. Communication access and careful assessment are essential.

Verify current clinical guidance and obtain clinical review before public recording.

Sources

1. Rett syndrome: MedlinePlus Medical Encyclopedia - https://www.medlineplus.gov/ency/article/001536.htm
2. Rett Syndrome | National Institute of Neurological Disorders and Stroke - https://www.ninds.nih.gov/health-information/disorders/rett-syndrome
3. Epilepsy and Seizures | National Institute of Neurological Disorders and Stroke - https://www.ninds.nih.gov/node/647

Sources accessed 3 October 2026.