Rett Syndrome
(Diseases)
This page provides comprehensive information about Rett syndrome.
What is Rett Syndrome?
Rett syndrome is a very rare genetic neurological disorder that occurs from birth and affects brain development, leading to severe intellectual and physical disabilities. It primarily affects females and is not immediately diagnosed; symptoms usually appear between 6 and 18 months of age.
- Males are rarely affected, and when they are, symptoms appear early and are severe, potentially leading to death. Rett syndrome causes multiple health issues, such as the gradual loss of motor and speech skills. There is no definitive cure, but symptoms can be managed according to a treatment plan recommended by a doctor. Children with Rett syndrome often exhibit behaviors similar to autism, including prolonged walking, repetitive hand movements, and sleep disturbances.
- What Are the Symptoms of Rett Syndrome?
- Symptoms can appear in four different stages, with severity varying by individual. Each stage may last several months or years.
- Stage 1 (Stagnation Stage): Appears between 6 and 18 months of age. Symptoms include:
- Difficulties with sitting, crawling, and walking.
- Inability to make eye contact.
- Stage 2 (Rapid Regression Stage): Appears between 1 and 4 years of age. Affects communication, language, memory, mobility, coordination, and other brain functions. Symptoms often resemble autism and include:
- Severe behavioral problems: anger, screaming, crying without clear reason, loss of interest in people, avoiding eye contact, and sleep disturbances.
- Severe motor issues: difficulty eating, chewing, or swallowing; inability to use hands for grasping, washing, clapping, or tapping.
- Severe autonomic issues: heart rate problems, rapid or slow breathing, breath-holding, and slowed head growth.
- Stage 3 (Plateau Stage): Appears between 2 and 10 years of age. Behavioral functions may improve. Symptoms include:
- Seizures are common.
- Difficulty gaining weight.
- Stage 4 (Late Motor Deterioration Stage): Can last 4 years or more. Symptoms include:
Spine curvature (scoliosis).
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Loss of the ability to walk.
What Causes Rett Syndrome?
- Every cell in the body has two chromosomes: X and Y. The X chromosome comes from the mother, and the Y chromosome comes from the father.
Rett syndrome is caused by a DNA mutation in one of the X chromosome genes responsible for proper neuronal development.
How Is Rett Syndrome Diagnosed?
- The doctor takes a medical history and performs a physical examination. Additional tests may include:
- Genetic blood test to identify the gene mutation.
- How Is Rett Syndrome Treated?
- There is no definitive cure, but symptoms can be managed through several approaches, including:
- Consultation with a doctor for respiratory issues using medications.
- Visits to a neurologist or psychiatrist.
- Visits to an orthopedic specialist for leg and hand movement problems.
Physical therapy to reduce the risk of spinal curvature and improve motor skills , such as walking and sitting.
Speech and language therapy to improve communication skills.
Nutritional counseling to maintain a healthy weight and address feeding difficulties.
Occupational therapy to improve fine and gross motor skills.
- Can Rett Syndrome Be Prevented?
- There is no known prevention. In most cases, the genetic changes causing the disorder occur spontaneously.
- What Are the Complications of Rett Syndrome?
- Complications vary widely among affected individuals and may include:
- Malnutrition.
- Sleep disorders.
Respiratory issues, such as pneumonia.
Problems with bones, muscles, and joints.
Social withdrawal.
Shortened life expectancy.
When Should You See a Doctor?
