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Rett syndrome is a rare genetic disease that causes developmental and nervous system problems, mostly in girls. It's related to autism spectrum disorder. Babies with Rett syndrome seem to grow and develop normally at first. Between 3 months and 3 years of age, though, they stop developing and even lose some skills. Symptoms include

  • Loss of speech
  • Loss of hand movements such as grasping
  • Compulsive movements such as hand wringing
  • Balance problems
  • Breathing problems
  • Behavior problems
  • Learning problems or intellectual disability

Rett syndrome has no cure. You can treat some of the symptoms with medicines, surgery, and physical and speech therapy. Most people with Rett syndrome live into middle age and beyond. They will usually need care throughout their lives.

NIH: National Institute of Child Health and Human Development

Symptoms of Rett Syndrome

The following features are indicative of Rett Syndrome:
  • loss of normal movement and coordination
  • delayed growth
  • loss of communication abilities
  • abnormal hand movements
  • unusual eye movements
  • breathing problems
  • agitation
  • irritability
  • abnormal behavior
  • cognitive disabilities
  • seizures
  • scoliosis
  • irregular heartbeat
  • pain
  • teeth grinding
  • fragile bones prone to fractures
  • small hands and feet that are usually cold
  • problems with chewing and swallowing

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Common Causes of Rett Syndrome

The following are the most common causes of Rett Syndrome:
  • genetic mutation

Risk Factors for Rett Syndrome

The following factors may increase the likelihood of Rett Syndrome:
  • genetic inheritance

Prevention of Rett Syndrome

No, it is not possible to prevent Rett Syndrome.
  • mutation in the MECP2 gene

Occurrence of Rett Syndrome

Number of Cases

The following are the number of Rett Syndrome cases seen each year worldwide:
  • Not common between 50K - 500K cases

Common Age Group

Rett Syndrome most commonly occurs in the following age group:
  • Aged between 1-5 years

Common Gender

Rett Syndrome can occur in any gender.

Lab Tests and Procedures for Diagnosis of Rett Syndrome

The following lab tests and procedures are used to detect Rett Syndrome:
  • Genetic testing: To detect your child's DNA for abnormalities and diagnose Rett syndrome

Doctor for Diagnosis of Rett Syndrome

Patients should visit the following specialists if they have symptoms of Rett Syndrome:
  • Pediatric neurologist

Complications of Rett Syndrome if untreated

Yes, Rett Syndrome causes complications if it is not treated. Below is the list of complications and problems that may arise if Rett Syndrome is left untreated:
  • sleep problems
  • poor nutrition
  • delayed growth
  • constipation
  • muscle and joint problems
  • anxiety
  • shortened life span

Procedures for Treatment of Rett Syndrome

The following procedures are used to treat Rett Syndrome:
  • Physical therapy: Improves the walking skills, balance and flexibility
  • Occupational therapy: Improves the purposeful use of the hands for activities such as dressing and feeding
  • Speech-language therapy: Improves child's life by teaching nonverbal ways of communicating and helping with social interaction

Self-care for Rett Syndrome

The following self-care actions or lifestyle changes may help in the treatment or management of Rett Syndrome:
  • Maintain nutritional diet: Important for normal growth and for improved mental and social abilities
  • Maintain behavioral intervention: Practice and develop good sleep habits may be helpful for sleep disturbances

Alternative Medicine for Treatment of Rett Syndrome

The following alternate medicine and therapies are known to help in the treatment or management of Rett Syndrome:
  • Using Hydrotherapy: Like swimming or moving in water, might be helpful for your child
  • Practicing music therapy: May be effective and reports good results in children with Rett syndrome

Patient Support for Treatment of Rett Syndrome

The following actions may help Rett Syndrome patients:
  • Find ways to relieve stress: Share your problems with a trusted friend or family member to help relieve your stress
  • Arrange for outside help: Seek the help of outside caregivers who can give you a break from time to time
  • Connect with others: Helps you feeling less alone

Time for Treatment of Rett Syndrome

While time-period of treatment for each patient may vary, below is the typical time-period for Rett Syndrome to resolve if treated properly under an expert supervision:
  • Disease cannot be treated but only maintained or effects reduced

Last updated date

This page was last updated on 2/04/2019.
This page provides information for Rett Syndrome.
Autism Spectrum Disorder
Degenerative Nerve Diseases
Developmental Disabilities
Rett syndrome - 7 learning sets

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