Rett syndrome is a rare neurodevelopmental disorder that most often affects girls. Early development may seem typical for the first months of life, after which developmental slowing or regression can become apparent. Loss of purposeful hand use, language changes, gait problems, and repetitive hand movements are among the classic features. ^[1][2]

For families, the most distressing part is often the regression: a child who had started to use hands, sounds, or interaction skills may lose some of those abilities over time. ^[1][2]

What are the symptoms?

Typical signs include loss of purposeful hand skills, repetitive hand wringing or squeezing, language regression, difficulty walking, poor coordination, breathing irregularities, seizures, and sleep problems. ^[1][2]

What causes it?

Rett syndrome is most often associated with mutations in the MECP2 gene. In most cases the genetic change occurs spontaneously. ^[1][2]

How is it diagnosed?

Diagnosis is based on developmental history, neurologic assessment, clinical criteria, and genetic testing. ^[1][2]

Is there a cure?

There is no universal cure that reverses the condition completely, but supportive care can greatly improve comfort, function, and safety. Physical therapy, occupational therapy, speech or communication support, seizure management, and nutritional support may all be important. ^[1][2]

When should families seek evaluation?

Evaluation is important if a child who was developing begins to lose previously acquired skills, develops repetitive hand movements, has problems walking, or shows major communication regression. ^[1][2]

FAQ

Does Rett syndrome affect boys too?

It can, but it most commonly affects girls. ^[1][2]

What is one of the classic signs?

Loss of purposeful hand use with repetitive hand-wringing movements is one of the hallmark findings. ^[1][2]

Is it caused by parenting or environment?

No. It is most often linked to genetic mutation and is not caused by parenting style. ^[1][2]

Can therapy help?

Yes. Supportive therapies and medical management can meaningfully improve comfort, function, and quality of life. ^[1][2]

When should developmental regression be evaluated?

Any clear loss of previously gained skills should be assessed promptly. ^[1][2]