Rett syndrome

Overview

Rett syndrome mostly affects girls.

Babies develop normally at first, then lose skills between 6 and 18 months.

Symptoms

Common signs:

• Loss of skills after 6 to 18 months

Less common

• Hand-wringing
• Breathing changes

Look up a symptom: Child not talking or meeting milestones · Staring spells or losing time

When to get medical care

Causes

A change in genes or chromosomes, usually by chance.

Does it spread or run in families?

• It isn't contagious. You can't catch it from someone else.
• It can run in families. Tell your doctor if a parent, brother, or sister has it.

Who is more likely to get it

• Family history (some types)
• Girls: Almost all cases

Possible complications

• Scoliosis: Very common
• Seizures: Common

Diagnosis

A clinician asks about your symptoms and may order tests.

The exam

A physical exam.

Tests

Tests, if needed:

• Genetic test:

Treatment

Treatment depends on the cause and how severe it is.

Self-care

• Early intervention and therapies
• Regular checkups with specialists
• Connect with family support groups

Which doctor treats this

• Start with your primary care provider (family doctor or internist).
• They may send you to a medical geneticist (genetics doctor).

Living with it

Support groups and helplines

• Genetic and Rare Diseases Information Center (GARD): Free NIH information on rare diseases, including where to find experts and patient groups.
• National Organization for Rare Disorders (NORD): Patient groups, help finding care, and aid programs for rare diseases.

Children, pregnancy, and older adults

• Families: Genetic counseling helps with questions about future pregnancies.

Pregnancy and breastfeeding

• If you're pregnant or planning to be, tell your prenatal provider about this condition.
• Don't start or stop any medicine on your own. Some are safe in pregnancy and some need to be changed.
• Ask before taking any pain reliever. The FDA advises avoiding ibuprofen and naproxen after 20 weeks unless your doctor says to.
• Breastfeeding: Most medicines are fine, but ask. The NIH LactMed database lists what's known about each one.

Outlook

Support helps children and adults reach their potential.

Getting ready for your visit

Bring a list of your symptoms and medicines.

What to bring

• A list of your medicines and supplements
• Notes on when symptoms started and what makes them better or worse

Questions to ask

• What's causing this?
• What treatment do you recommend?

Research studies

Research studies test new ways to find and treat health problems. Some are looking for volunteers. Talk with your doctor before joining one.

Search ClinicalTrials.gov for studies on Rett syndrome