The Symptoms of Rett Syndrome

The symptoms of Rett Syndrome can appear quickly or take months to develop. It is not always obvious to begin with. A child with Rett Syndrome may not have every symptom listed below, and their symptoms can change as they get older.

 

Early Signs (6-18 months) 

In the first six months, a child with Rett Syndrome will usually develop and grow normally, although later, subtle signs of Rett Syndrome may be recognized in hindsight. Early signs usually appear within the first 6-18 months, including: 

  • Low muscle tone (hypotonia) 
  • Difficulty feeding 
  • Unusual, repetitive hand movements or jerky limb movements 
  • Delay in speech development 
  • Mobility problems, such as difficulty sitting, crawling, and walking 
  • Lack of interest in toys 

Signs of Regression (1-4 years) 

Between the ages of one and four, a child with Rett Syndrome will lose some of their abilities. The child will gradually or suddenly start to develop severe problems with communication, memory, hand use, mobility, coordination, and other brain functions. Symptoms include: 

  • Loss of purposeful hand use 
  • Repetitive hand movements, including wringing, washing, clapping, or tapping 
  • Periods of distress, irritability, agitation, and unexplained screaming 
  • Loss of interest in people and avoiding eye contact 
  • Unsteady or awkward walking pattern 
  • Difficulty sleeping 
  • Difficulty chewing and swallowing age-appropriate food 
  • Constipation, causing stomach aches and distress 
  • Slowing of head growth compared to typical peers 

School Years 

During the early school years, children with Rett Syndrome typically stabilize developmentally, and the regression phase ends. Symptoms to look out for include: 

  • Preventing undernutrition and maintaining a healthy body mass index for better functioning 
  • Surveillance for scoliosis, as ~20% of children may require spinal surgery 
  • Early puberty or late menarche 
  • Muscle tone difficulties, with either extreme floppiness or stiffness 
  • Rapid breathing (hyperventilation) or slow breathing, including breath-holding 
  • Air swallowing, which can lead to tummy distention 

Postpuberty to the End of School 

  • Continued surveillance for scoliosis 
  • Surveillance for urinary retention 
  • Increased risk of biliary tract disease, which may present as irritability, weight loss, and vomiting due to communication impairments 
  • Studies show that many individuals with Rett Syndrome survive into middle age, emphasizing the need for an early, comprehensive transition plan to adulthood 

Adulthood 

  • Long-term supervision is required, as physical, behavioral, and cognitive limitations prevent independent living 
  • People with Rett Syndrome who have had breathing irregularities throughout their lives may develop respiratory issues requiring Non-Invasive Ventilation (C-PAP or Bi-Pap) as they age

Boys with Rett Syndrome 

Although rare, boys can also have Rett Syndrome due to specific genetic mutations. More information can be found on the Rett Syndrome Research Trust website. 

Diagnosis questions

A Rett Syndrome diagnosis is devastating but you are not alone. Fellow parents have identified some key questions they had before, during and after their child’s diagnosis.

 

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Living with Rett Syndrome

Practical information and resources to help keep children and adults with Rett Syndrome healthy until treatments and a cure become available.