Living with Atypical Rett syndrome
A brain development condition in which a child has some, but not all, of the features of Rett syndrome, mostly in girls.
Understanding Atypical Rett syndrome
It mostly affects girls. Symptoms can be milder or more severe than in classic Rett syndrome. Diagnosis relies on a clinical exam using criteria defined by Hagberg in 1994, and genetic testing may confirm it. It is noticed in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Trouble speaking or no speech
- Trouble walking or coordinating movement
- Breathing pattern differences
- Feeding difficulties
- Sleep problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Rett Syndrome Research Trust, International Rett Syndrome Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Rett Syndrome Research Trust, International Rett Syndrome Foundation, Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Rett Syndrome Research Trust and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes (also called variants) cause this condition. It can be autosomal dominant or X-linked.
Also known as: atypical rtt; rett like syndrome; rett syndrome variant
Patient organizations
- Rett Syndrome Research TrustAtypical Rett syndrome · United States
- International Rett Syndrome FoundationAtypical Rett syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Atypical Rett syndrome.
Explore research for Atypical Rett syndrome
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