What is Retts Disorder?

What is Retts Disorder Retts disorder or Rett syndrome is one of the severe neurological disorders which exclusively affects females. It is a rare genetic prototypical neurodevelopmental disorder, being one of the rare diseases that occur specifically in girls.

Rett syndrome affects the brain development of children with Rett syndrome, causing a progressive loss of motor movements skills and speech disorders. This disorder is usually discovered after 6-18 years of normal development and exclusively affects females.

The diagnosis of Rett syndrome in a child can feel very overwhelming. It was once considered a part of autism spectrum disorders. But owing to the recent research developments, this syndrome is now mostly considered a genetic disorder.

This article is a Rett syndrome fact sheet that can help you learn about the causes, specific symptoms, more severe symptoms, types, and diagnosis options of Rett syndrome.

Early Onset:

The most common form of Rett syndrome is the classic Rett syndrome. They usually have 6 to 18 months of the normal developmental curve, after which they start developing severe problems learning, coordination, language, and other functions associated with the brain.

There are certain symptoms of Rett syndrome that start appearing in early childhood in girls, where the affected child with Rett syndrome deviates from apparently normal development.

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Cure for Rett syndrome:

There is no cure for Rett syndrome discovered till now. But early intervention can help the children with Rett syndrome and their parents to help their daughters live a better life.

Frequency:

Throughout the world, about 1 in every 10,000 to 15,000 babies are born having this disorder of Rett syndrome. The Rett syndrome cases are diagnosed in all racial and ethnic groups of the world.

Life expectancy with Retts Disorder:

It is known as a fact that Retts disorder decreases life expectancy, but not a lot is known about the life expectancy rate of these individuals. On average the people with Rett syndrome live depending upon the age at which the symptoms of Rett syndrome first appeared, together with their severity.

On average, people with Rett syndrome usually survive till their 40s or 50s.

Stages of Retts disorder:

Stage i:

This stage can be called early-onset where the development slows down between the age of 6 to 18 months and results in slowed growth, ultimately not meeting the developmental milestones.

Stage ii)

Stage ii is the rapid destructive stage. This stage generally shows its occurrence between the ages of 1 and 4 years. This stage results in the loss of the acquired skills whereby the purposeful hand skills, speech skills, and walking skills are lost.

Stage iii)

Stage iii of Rett syndrome is the plateau stage. This stage usually occurs between the age of 2 to 10 years, and it can last for many years to come. Seizures begin appearing at stage iii, which may not occur before the age of 2 years. This stage is also called pseudo-stationary stage, and most girls remain at this stage for the rest of their lives.

Stage iv)

Stage iv is the late motor deterioration stage. This stage usually starts appearing at the age of 10 years and can last for years or even decades. Muscle weakness, reduction in mobility, scoliosis, and even joint contractures are part of this stage. The occurrence of seizures may become less frequent. Stability in characteristic hand movements, communication skills, and understanding are observed together with some improvement signs.

Causes of Rett syndrome:

Single genetic mutation:

The cause of Rett syndrome is the mutation on a gene called methyl CpG binding protein 2 (MECP2) on the X chromosome (one among the sex chromosomes).

Symptoms of Rett syndrome:

For the first six years, babies with Rett syndrome show normal growth before any symptoms of Rett syndrome is obvious. The age of appearance of these symptoms varies, but the affected babies usually start showing up the common symptoms between 12 and 18 months of age.

The appearance of the symptoms of Rett syndrome can happen suddenly or with slow progress.

Following are some of the common symptoms found in many children with Rett syndrome:

1) Slowed Growth:

The brain of children with Rett syndrome doesn’t show proper growth. It also displays slowed head growth, resulting usually in small head size. This decreasing head growth is also known as microcephaly. This is the initial sign of children having Retts disorder. With the progress of age, there is an evident delayed growth in other parts of the body.

2) Problems with initiating motor movements:

Children with Rett syndrome usually show the initial signs of reduction in gross motor skills, e.g. hand movement disorders and their inability or decreased ability to walk or crawl normally. This reduction in abilities occurs rapidly in the start, with gradual continuation. As a result, the muscles become weak or rigid, with abnormal movement & positioning.

These girls show loss in the purposeful use of their hands, showing repetitive hand movements, hand wringing, and clapping motions.

3) Breathing irregularities:

Children with Rett syndrome may face trouble in breathing, including uncoordinated breathing, breath-holding, rapid abnormal breathing (also called hyperventilation), forcefully exhaling of saliva and air, and swallowing air.

4) Problems in language skills:

Children with Rett syndrome face trouble in communication skills, including a loss in speaking ability, making eye contact, and communicating using other methods.

Their language and social skills start facing their decline between the age of 1 to 4 years. They face extreme social anxiety and they stop talking.

5) Crying and Irritability:

Children with this developmental disorder may become more and more irritating and agitated as they grow older.

6) No interest in others:

Children having Retts disorder show a lack of interest in other people and things. They may show no interest in other people, their surroundings, and their toys.

7) Loss of cognitive abilities:

Intellectual disability is also accompanied by Rett syndrome in the children among the other skills that are lost as a result of these developmental disorders.

8) Seizures:

People with Rett syndrome may face seizures and at some point in their lives. They can also face multiple seizures accompanied by an electroencephalogram or EEG.

There are some ways to control seizures, including physical therapy, sitting posture correction, attention to mobility, etc.

9) Sleep disturbances:

Abnormal sleep patterns appear in people with Rett syndrome also including irregular sleeping times. This can include rising during the night with screaming and sleeping during the day.

10) Scoliosis or Abnormal spinal curvature:

Amongst the physical symptoms of Rett syndrome comes scoliosis which is common in Rett syndrome. It typically starts appearing at the age of 8 to 11 years, while increasing its severity with age. If the curvature becomes severe, there may arise a need for surgery.

Other symptoms that many children show, also include abnormal muscle tone, increased muscle tone, teeth grinding, hand wringing, as the clinical features of Rett syndrome.

Types of Retts Disorder:

i) Typical or Classic Rett syndrome

ii) Atypical or Variant Rett syndrome

Diagnosis of Rett syndrome:

There is a standard clinical review focusing on the diagnosis of Rett syndrome. International Rett syndrome foundation working under the revised diagnostic criteria of the rett syndrome fact sheet that lays out some specific methods for the its diagnosis.

In order to get the Rett syndrome diagnosed, doctors use the indication of specific behavioral and symptomatic patterns in the girl. The medical professional will make the diagnosis based on the girl’s behavior and consulting the girl’s parents about the specific symptoms and patterns found in the girl.

There are no specific risk factors associated with Rett syndrome, other than being a girl.

Ruling out other disorders:

As Rett syndrome is a rare genetic disorder, the doctors will start the diagnosis by ruling out other disorders, e.g. cerebral palsy, prenatal brain disorders, and other metabolic disorders.

As these girls may also display autistic like symptoms which must be ruled out in the clinical diagnosis of Rett syndrome.

Genetic Testing:

It is another way of confirming the Rett syndrome in 80% of the girls. These tests may also help in the prediction of the severity of specific rett syndrome symptoms and other symptoms associated with it.

Treatments of Rett syndrome:

There is no cure for Rett syndrome available till now. But, there are some treatment options that can help improve these symptoms.

The treatments that are designed for the children may be needed to be continued for the rest of the lives of children.

Some of the treatment options are listed below:

• Occupational therapy

• Speech therapy

• Behavioral therapy

• Physical therapy

• Nutrition Plan

• Standard medication and medical care

• Other supportive services

Prevention of Rett Disorder:

There is no way known that can prevent Rett syndrome, because the genetic mutation associated with this disorder occurs spontaneously.

If you have a child or a family member who is having this disorder, you must also ask a medical professional about the genetic testing in the MECP2 gene in X chromosome, which confirms the presence of this disorder in someone .

Wrapping Up What is Retts Disorder?

Concluding our discussion, this is the Rett syndrome fact sheet that can help you in getting some knowhow about Rett disorder.

Although it is one of the rare disorders, proper diagnosis and treatment can help alleviate the condition and help people with rett syndrome live a better life.

Rett syndrome is not a curable condition, but early intervention with proper diagnosis and treatment, taking help from a national institute for the treatment of people with rett syndrome can help the patients with these rare disorders like Retts disorder to live a better life.

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