Understanding Rett Syndrome
Rett syndrome is a neurodevelopmental disorder, meaning it affects the development of the brain and nervous system, as well as some other features of growth, such as height.
This condition mostly affects females. Although it is a genetic condition, it is not passed through families.
Rett syndrome can limit the function of anyone with it. There is no cure.
The causes of Rett syndrome, what symptoms to expect if someone you know has this condition, and the treatment options are covered in this article.
Sex and gender can be different between time periods and cultures. Both aspects are acknowledged to exist on a spectrum.
“We use the terms male and female to refer to someone’s sex as determined by their chromosomes, and boy and girl to refer to them as their gender.”
It is not usually apparent until 6 to 18 months of age.
Rett syndrome was first described by an Austrian physician in 1966 but was not widely known until a second study identified more people with it in 1983.
How Rett syndrome appears varies in symptoms and severity from person to person. Subtle symptoms might be present before a diagnosis is made because of typical differences in growth and development rates.
The mental and physical signs of Rett syndrome become more obvious as children affected by this condition move through their first year of life.
Rare in males
Rett syndrome is rare, occurring only in about 1 in 10,000 female births. The condition is even rarer in males, mainly because males affected by this mutation do not survive pregnancy.
Since Rett syndrome is a condition that develops from a mutation in the X chromosome — of which males only have one —pregnancies with males affected by this condition usually end in miscarriage or stillbirth.
Babies born with Rett syndrome appear to develop typically. Symptoms may appear over time.
- Weakness in the muscles.
- Keeping to themselves.
- There was no eye contact or interaction with others.
- “It’s impossible to focus.”
The physical and neurological symptoms of children with this condition get worse as they get older. People with Rett syndrome may lose their ability to walk, talk, or control their movements.
About 85 to 90 percent of people with this condition have growth delays and muscle wasting. These symptoms get worse with age. Children with this condition who live into adulthood often require constant care.
X chromosome inactivation
Some females with Rett syndrome have evidence of inactivation on their chromosomes. The only thing that can cause Rett syndrome is a single X chromosomes.
Sometimes the affected chromosome can be silenced or turned off, which can help mask the symptoms of this disorder.
This phenomenon only occurs in females because males only have one X and one Y chromosomes.
Rett syndrome is a genetic disorder caused by a mutation of the X chromosome in the MECP2 gene. More than 900 mutations of this gene are possible. The symptoms and severity of Rett syndrome depend on the exact location and type of mutation.
Mutations that lead to Rett syndrome are usually located in one of eight different areas of the MECP2 gene known as “hot spots.” This gene usually creates a protein that helps control brain function and activity.
Lower levels of this protein are found in people with Rett syndrome.
Although this condition is caused by a genetic mutation, it’s not usually hereditary. About 99 percent of the mutations that lead to Rett syndrome happen spontaneously and are not transferred to a child from their parents.
In less than 1 percent of cases, parents who have a child with Rett syndrome will have another child with the same condition. This can happen if one parent has egg or sperm cells that carry a mutation in the MECP2 gene.
Birthing parents who carry this mutation have a 50 percent chance of passing it on to their children, depending on how many cells in an egg are affected.
The progression of Rett syndrome is divided into four stages.
The first stage is usually missed because of subtle symptoms. There might be some red flags in early infancy.
- loss of muscle tone (hypotonia)
- Feeding difficulties
- limb movements
- repetitive hand movements
- “Is it possible that I’m Irrisponsible?”
- It is restless.
Stage 1 usually lasts 6 to 18 months until the time of diagnosis. Symptoms that appear later in stage 1 can be more noticeable. The progression of stage 1 can take months or a year.
Symptoms can appear later in stage 1
- crawling or walking
- Eye contact was diminished.
- There is no interest in parents or activities.
- Skills or behaviors are regressions.
- wringing or washing movements are not normal.
- walking with a tip to it.
- There are behaviors that are similar to those of theautistic-like behaviors.
- There are cognitive difficulties.
- teeth are grinding
- slow growth
- smaller head size (microcephaly)
The rapid destructive phase is Stage 2. This stage can last weeks or months and happens between the ages of 1 and 4. Things can happen during this time.
- The hand skills have been lost.
- Speech difficulties or total speech loss.
- repetitive hand movements disappear during sleep
- breathing difficulties, like apnea or hyperventilation
- Social skills are lost.
- Walking is not easy.
- Slow motor movements.
- “It’s difficult to sleep.”
- screaming fits or uncontrollable crying
- panic attacks
Symptoms may stop progressing in stage 3. The stage is sometimes called the plateau or pseudo-stationary stage. Some children have improved their behavior.
- Communication skills have been improved.
- less crying and “Is it possible that I’m Irrisponsible?”
- Increased interest in people and things.
- Neurological symptoms have a stable stability.
This stage can last for years, but there are still some serious symptoms that can be seen. These may include:
- Difficulty performing movements that are skilled or learned.
- Difficulties with motor skills.
- slow growth
Some children with Rett syndrome can stay in this stage for most of their lives, and it typically begins between the ages of 2 and 10.
Many children with this condition can live long and productive lives. Some people with this condition never learn to walk.
- increasing Weakness in the muscles.
- The contractures are joint.
- There are muscle spasms.
- underdeveloped hands and feet are often cold
- Muscle contraction and movements.
- improper postures.
- The facial expression has decreased.
- There are tremors.
- difficulty chewing and swallowing
- muscle wasting
- There are problems with the stomach.
- atypical breathing
- intermittent eye crossing (esotropia)
- bone loss (osteopenia)
- There are heart problems.
Rett syndrome is often misdiagnosed, as its symptoms can be similar to other neurodevelopmental disorders. In the past, Rett syndrome was sometimes diagnosed as a different medical condition, especially autism.
People with the syndromes have communication delays and difficulty with social relationships.
However, there are many physical symptoms of Rett syndrome that do not appear in autistic people. Also, unlike autism, females are almost exclusively affected by Rett syndrome.
The next section will give more information about how Rett syndrome is diagnosed and how doctors can differentiate it from other similar conditions.
The symptoms and growth patterns of affected children are observed.
There is also a genetic test that can detect the mutation of the MECP2 gene, but a pediatric neurologist, clinical geneticist, or development pediatrician should confirm the results.
There are three types of criteria that can be used to confirm a diagnosis.
Main diagnostic criteria
There are symptoms like this.
- The hand skills acquired are lost.
- It is a loss of spoken language.
- repetitive hand movements
- Difficult walking
- walking with a tip to it. or stiff-legged
Supportive diagnostic criteria
These symptoms are not developed in everyone, but they may appear in some females. They are not required for a diagnosis. Diagnostic symptoms that can include things are supportive.
- teeth are grinding
- cold hands and feet
- The hands and feet are related to the height.
- low weight
- The height has been reduced.
- atypical sleep patterns
- The muscle tone was decreased.
- It is inappropriate to laugh or scream.
- The eye gaze is intense.
- The responses to pain decreased.
The presence of these symptoms alone is not enough to be diagnosed with Rett syndrome. The other categories have symptoms as well.
These are things that a doctor will look for to rule out a Rett syndrome diagnosis. Children with certain conditions can allow a doctor to rule out a condition.
- There are brain injuries from a trauma.
- There are diseases that are related to metabolism.
- Infections that lead to neurological impairments.
There is no cure for Rett syndrome. Treatments only attempt to help manage symptoms, not cure the condition. Treatments that may be used include:
- There are breathing treatments or devices.
- medication to manage motor disorders, There are tremors., or spasticity
- anticonvulsant medications for seizure control
- Monitoring the heart.
- Regular neurological and spine checks.
- occupational therapy
- Physical therapy.
- mobility devices, such as braces or splints
- nutritional therapy or feeding assistance
- Social support services.
Treatments will depend on symptoms and severity.
It is difficult to estimate life expectancy because of the rarity of Rett syndrome. Treatments for the symptoms of this disorder improve.
Females with Rett syndrome typically have a:
- There is a 100 percent chance that the child will reach age 10.
- 90 percent chance of reaching 20.
- 75 percent chance of reaching 30.
- 65 percent chance of reaching 40.
- 50 percent chance of reaching 50 years old.
There are several measures someone can take to improve life expectancy. These include getting good nutrition, having close care and supervision, and regular Monitoring the heart..
About a quarter of all deaths in people with Rett syndrome are sudden and unexpected. This is possibly due to unknown issues with the electrical system of the heart.
Rett syndrome is a genetic disorder that appears in infancy and leads to significant physical and mental disabilities. This condition mostly affects females, but it’s still rare, affecting only about 1 in 10,000.
Close supervision and regular healthcare is important for females and families dealing with this condition. People with Rett syndrome can be helped through the stages of the disease with the help of a support team.