परिभाषा
Rett syndrome is a problem with the development of the nervous system. It is most common in girls. Rett syndrome occurs in one out of every 10,000-23,000 female births. Boys with Rett syndrome are usually stillborn or die shortly after birth.
Rett syndrome can be classified into classic and atypical based on the symptoms.
Many people with Rett syndrome live into adulthood. Most have severe disabilities including an inability to talk or walk. People with Rett syndrome usually have a full range of feelings and often communicate through their eyes. Daily care throughout their life is often needed.
का कारण बनता है
Rett syndrome is most often caused by nonhereditary mutations on a specific gene on one X chromosome.
Females have two X chromosomes. Males have one X and one Y chromosome. Males usually die from Rett syndrome because they lack a second normal X chromosome. The second normal X chromosome in girls may provide some protection.
In Rett syndrome, the mutated gene affects methyl cytosine binding protein 2 (called MECP2). When it is mutated, there is a deficiency of this important protein. This is an area that is still being studied.
Ninety-five percent of girls with Rett Syndrome and 50% of those with the atypical form have the MECP2 mutation. But, not everyone with this mutation will have Rett syndrome. Some females may be normal or have only mild symptoms. But, these women can pass the gene to their daughters. The daughters may then be more severely affected.
It is not clear what causes the Rett gene to mutate. Rett syndrome is usually nonhereditary. This means it does not run in families.
जोखिम कारक
There are no known risk factors for Rett syndrome, except being female. The mutation that causes the syndrome appears to be sporadic.
लक्षण
A girl with Rett syndrome will start developing normally. She will smile, move, and pick items up with her fingers. But by 18 months of age, the developmental process seems to stop or reverse itself. The age of onset and the severity of symptoms is different from person to person. There are four stages. Symptoms for each stage include:
Stage I: Early Onset Stage
- Occurs at age 6 to 18 months
- Can last for months and include
- Less eye contact with parents
- Less interest in toys and play
- Handwringing
- Slow head growth
- Calm, quiet baby
Stage II: Rapid Destructive Stage
- Occurs at age 1 to 4 years
- Can last weeks to months and include:
- छोटा सिर
- बौद्धिक विकलांगता
- Loss of muscle tone
- Inability to purposely use hands
- Loss of (previous) ability to talk
- Repeatedly moving hands to mouth
- Other hand movements, such as clapping, tapping, or random touching
- Hand movements stop during sleep
- Holding breath, gaps in breathing, taking rapid breaths
- Irregular breathing stops during sleep
- Teeth grinding
- Laughing or screaming spells
- Decreased social interactions
- चिड़चिड़ापन
- नींद न आना
- झटके
- Cold feet
- Trouble crawling or walking
Stage III: Plateau Stage
- Occurs at age preschool through school years
- Can last for years and include:
- Difficulty controlling movement
- बरामदगी
- Less irritability and crying
- Communication may improve
Stage IV: Late Motor Deterioration Stage
- Occurs at age when stage III ceases, can be anywhere from age 5 to 25
- Can last up to decades and include:
- Decreased ability to walk
- Muscle weakness or wasting
- Stiffness of muscles
- Spastic movements
- Scoliosis (curvature of the spine)
- Breathing trouble and seizures often decrease with age
- Puberty usually begins at the expected age
निदान
The doctor will ask about your child’s symptoms and medical history. A physical and neurological exam will be done. Genetic testing can often confirm the diagnosis. Your doctor may also do tests to rule out other conditions like autism.
Some symptoms of Rett syndrome are similar to those of autism. Children with autism, who are more often boys, do not maintain person-to-person contact. Most girls with Rett syndrome, though, prefer human contact to focusing on inanimate objects. These differences may give the first clue in diagnosing Rett syndrome.
Physical and developmental symptoms can often lead your doctor to a Rett syndrome diagnosis.
Tests that may be done include:
- Blood test—to check for genetic mutation (MECP2)
- Electroencephalogram (EEG)—a test that records the electrical activity of the brain
- Video-EEG—a test that combines EEG with a video to see if some of the child’s movements are caused by seizures
उपचार
There is no cure for Rett syndrome. People with this condition need to be monitored for problems of the bones and heart.
Treatment aims to control symptoms and includes:
दवा
Medications that may help with symptoms include:
- Anticonvulsants to control seizure activity
- Stool softeners or laxatives if constipated
- Drugs to help with breathing
- Drugs to ease agitation
- Histone deacetylase inhibitors—a group of medications that are being investigated to treat Rett syndrome.
Nutrition Support
To support nutrition, your doctor may recommend:
- Small, frequent meals
- Supplements
- Tube feeding, if the patient is unable to consume enough food
- Fluids and high- fiber foods to help control constipation
Rehabilitation Therapies
These therapies will help manage physical and general care challenges:
- Occupational therapy — to help patients learn to perform daily activities, such as dressing and eating
- Physical therapy — to help patients improve coordination and movement (can sometimes prolong the ability to walk), braces and splints may be recommended
- Speech therapy aids — to build communication skills
- Social workers — to help a family cope with caring for a child with Rett syndrome
Techniques for Limiting Problem Behaviors
Keeping a diary of your child’s behaviors and activities helps determine the cause of agitation. The following may help to prevent or control behavior problems:
- Warm baths
- मालिश
- Soothing music
- Quiet environment
रोकथाम
There is no way to prevent Rett syndrome. If you have questions about the risk of Rett syndrome in your family, talk to a genetic counselor.