How to Get Rid of Rett's syndromeTweet
Retts Syndrome was first recognized by Andreas Rett in 1966 and is a neurological disorder affecting primarily females. Autopsies on the brains of these individuals indicate a pathology different than autism, however, children afflicted with Rett Syndrome often exhibit autistic-like behaviors, such as repetitive hand movements, prolonged toe walking, body rocking, and sleep problems.
Rett syndrome is a progressive neurological disorder in which individuals exhibit reduced muscle tone, autistic-like behavior, hand movements consisting mainly of wringing and waving, loss of purposeful use of the hands, diminished ability to express feelings, avoidance of eye contact, a lag in brain and head growth, gait abnormalities, and seizures.
The prevalence of Rett Syndrome is similar to the prevalence of autism; that is, estimates are between 1 in 10,000 births and 1 in 15,000 births.
What are the causes of Rett's syndrome?
Rett syndrome is caused by mutations in the MECP2 gene, which is found on the X chromosome. Scientists identified the gene - which is believed to control the functions of several other genes - in 1999.
The MECP2 gene contains instructions for the synthesis of a protein called methyl cytosine binding protein 2 (MeCP2), which acts as one of the many biochemical switches that tell other genes when to turn off and stop producing their own unique proteins.
Because the MECP2 gene does not function properly in those with Rett syndrome, insufficient amounts or structurally abnormal forms of the protein are formed. The absence or malfunction of the protein is thought to cause other genes to be abnormally expressed, but this hypothesis has not yet been confirmed.
Although Rett syndrome is a genetic disorder - resulting from a faulty gene or genes - less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are sporadic, which means the mutation occurs randomly, mostly during spermatogenesis, and is not inherited.
Genetic testing is also available for sisters of girls with Rett syndrome and an identified MECP2 mutation to determine if they are asymptomatic carriers of the disorder, which is an extremely rare possibility.
What are the symptoms of Retts syndrome?
Girls with the classical form of Rett Syndrome seem to be perfectly healthy at birth, and to develop normally until they are between 12 and 18 months of age.
- Air Swallowing
- Bone fractures
- Abnormal Breathing
- Valsalva Maneuver
The following suggest normal early development:
- Prenatal and perinatal development appear normal.
- Psychomotor development appears normal at least until month 6 old.
- Head circumference is normal at birth.
After this period of normal development, all of:
- Head growth slows abnormally between 5 and 48 months.
- Between 5 and 30 months, the child loses already acquired purposeful hand movements and develops stereotyped hand movements such as handwashing or handwringing.
- Early in the course, the child loses interest in the social environment. However, social interaction often develops later.
- Gait or movements of trunk are poorly coordinated.
- Severe psychomotor retardation and impairment of expressive and receptive language.
Adult women with Rett syndrome show many individual differences in the severity of their disability. It is difficult to know what to expect because Rett syndrome is a relatively newly identified disorder and therefore longitudinal studies are yet to be carried out.
Some women are unable to communicate effectively and require dressing, toileting and help with feeding and mobility.
All women with Rett syndrome are incapable of living independently and require constant care throughout their lives. Innovative and flexible living arrangements such as group homes are becoming the norm in many cases.
What are the treatments of Rett's syndrome?
There is no cure for Rett syndrome; however, there are several treatments options. Treatment is therefore concentrated on relief of individual symptoms, compensation for physical disabilities and the provision of the best possible stimulation and quality of life. Deformities and progressive disabilities should be prevented wherever possible.
Occupational therapy (in which therapists help children develop skills needed for performing self-directed activities - occupations - such as dressing, feeding, and practicing arts and crafts), physiotherapy, and hydrotherapy may prolong mobility.
Treatment must always be individually structured, on the basis of the specific problem complex and point of departure of each girl, who must be offered help in utilizing her retained abilities and stimulation for further development.
Special academic, social, vocational, and support services may also be required in some cases.
What is the prognosis of Retts syndrome?
In spite of the severe impairments that characterize this disorder, the majority of individuals with Rett can be expected to reach adulthood, surviving at least into their 40s. However, the risk of death is increased.
Sudden, unexplained death - possibly from brainstem dysfunction with respiratory arrest - often occurs.
Facts and Tips about Rett's Syndrome
- In 1966 Andreas Rett was discovered the Rett's syndrome.
- This is a disorder in brain function and it is found mostly in the girls.
- This syndrome will increase ruthless troubles in verbal communication, education and synchronization.
- Alteration or mutation in MECP2 gene situated on X chromosome is the origin of Rett's syndrome.
- Anti-psychotic drugs and speech therapies are the effective treatments available for this syndrome.
- Eat vitamin rich food to overcome vitamin deficiency.
- Consult your doctor for any problem regarding to Rett's syndrome.
i am trying to find out moor about retts what has been what all the docs think my daughter has and has been this waay for 4 years but she is dose not stop she is always on the go and places her self in danger a lot can any one help - h wood
Sometimes crying or laughing
are the only options left,
and laughing feels better right now.
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