Autism

Neurodevelopmental Disorders & Learning Differences

Rett Syndrome: Symptoms, Diagnosis, and Treatment Guide for Parents and Caregivers

Authored by: The DrSensory Editorial Team

Reviewed by: 🛡️ DrSensory Clinical Review Board

Last updated: June 2025

All medical content on this page has been reviewed and approved by licensed Doctors on the DrSensory Clinical Review Board. Our reviewers follow strict editorial standards and ensure alignment with current APTA guidelines, evidence-based practice, and orthopedic rehabilitation protocols.

What is Rett Syndrome and how does it affect children?

Rett Syndrome is a rare genetic neurological disorder that primarily affects girls, leading to severe cognitive, motor, and communication impairments. Children with Rett Syndrome typically develop normally for the first 6 to 18 months before experiencing a loss of purposeful hand skills, slowed growth, and challenges with walking, speech, and coordination. It is caused by mutations in the MECP2 gene and is classified as a developmental brain disorder rather than a form of autism.

What are the common signs and symptoms of Rett Syndrome?

The hallmark signs of Rett Syndrome include:

  • Loss of purposeful hand use, replaced by repetitive hand-wringing or clapping
  • Severe speech and language delays or loss
  • Motor difficulties, such as problems with walking or coordination
  • Slowed head growth (microcephaly)
  • Breathing irregularities like hyperventilation or apnea
  • Seizures and other neurological issues are also common.

Symptoms usually appear after an initial period of normal development, generally between 6 months and 2 years of age.

How is Rett Syndrome diagnosed?

Rett Syndrome diagnosis involves:

  • Clinical evaluation of symptoms and developmental history
  • Genetic testing to identify mutations in the MECP2 gene
  • Neurological assessments and ruling out other developmental disorders
  • Observation of characteristic behaviors like hand-wringing and loss of motor skills

Early diagnosis is essential to manage symptoms and provide therapies that improve quality of life.

What treatments and therapies are available for Rett Syndrome?

There is currently no cure for Rett Syndrome, but various treatments can help manage symptoms and support development:

  • Physical, occupational, and speech therapy to maintain mobility and communication
  • Medications to control seizures, muscle stiffness, and breathing problems
  • Nutritional support to address feeding difficulties
  • Emerging research focuses on gene therapy and targeted drug treatments

A multidisciplinary care team can create a personalized treatment plan to maximize independence and quality of life.

Was Rett Syndrome once classified as a form of autism?

Yes, Rett Syndrome was historically classified as part of the autism spectrum, especially before genetic testing clarified its unique cause. Early on, because of overlapping symptoms like loss of social engagement, speech delays, and repetitive behaviors, Rett Syndrome was often mistaken for or grouped under autistic disorders.

However, with advances in medical research, scientists discovered that Rett Syndrome is caused by mutations in the MECP2 gene, making it a distinct genetic neurological disorder rather than a form of autism. Today, Rett Syndrome is recognized separately but shares some behavioral features with autism spectrum disorders, which sometimes leads to diagnostic challenges.

This page provides general educational content and is not a substitute for professional medical advice. Always consult a licensed provider for diagnosis and treatment.

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