Rett syndrome: symptoms, causes, treatment, etc. & bull; hello healthy

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Definition

What is Rett syndrome (Rett syndrome)?

Rett syndrome or Rett's syndrome is a congenital birth defect that causes problems in the brain of babies, especially baby girls.

Most babies are born with congenital defects or defects Rett syndrome or Rett syndrome can usually develop normally until the age of 6-18 months.

However, after a baby is over 18 months of age, generally the development that has been previously owned can be lost. Take for example the baby's ability to sit, the baby's ability to crawl, the baby's ability to stand, and the baby's ability to walk.

Even babies who have started to speak can suddenly experience language problems and difficulty speaking.

Rett syndrome or Rett syndrome is also a condition that can make coordination between the limbs and brain function of the baby can also experience problems.

As people get older, the ability to move the hands of babies with Rett syndrome usually fades away slowly.

This makes babies who have Rett syndrome since birth often make repeated hand movements.

Usually, parents or caregivers of children with Rett syndrome are somewhat overwhelmed to care for their children.

Indeed, there is no treatment that can treat this disease. However, early diagnosis and treatment can help this girl and her family to cope with this syndrome.

Rett syndrome or Rett's syndrome was originally a congenital birth defect classified under autism.

However, once scientists discover the cause of Rett's syndrome is due to a type of genetic mutation, it is classified as a neurological disorder with a known cause.

What are the stages of Rett syndrome (Rett syndrome)?

The various stages of Rett syndrome or Rett syndrome are as follows:

Phase I

Stage I occurs when the baby is between 6-18 months old. Babies show little eye contact, are not interested in toys, and are late for physical development such as sitting, standing and walking.

Phase II

Children can lose the ability to do things that they were able to do before. Usually, stage II takes place at the age of 1-4 years old.

If previously the child was able to sit, stand, walk, etc., now this ability seems difficult to do and has decreased function.

Stage III

Stage III usually occurs in the age range of children 2-10 years. In general, children will still have problems with body movements, behavioral disorders, irritability, and seizures.

Stage IV

Next, the developmental stages Rett syndrome enter stage IV when the child is over 1- years of age.

Symptoms at this stage appear with muscle weakness, decreased joint function, to abnormal curvature of the spine (scoliosis).

Meanwhile, communication with other people and children's hand skills are generally stable or have slightly improved. In fact, the frequency of seizures in children is becoming less frequent.

How common is this condition?

Rett syndrome or Rett's syndrome is a genetic inherited disorder that almost always affects baby girls.

The exact number of cases is not known Rett syndrome or Rett's syndrome. It's just that, according to the U.S National Library of Medicine, this one congenital abnormality can occur in about 1 in 9,000 to 10,000 newborns with female sex.

In general, the development of an afflicted baby Rett syndrome it looks normal at first just like most other babies.

It is not until the baby turns 24 weeks or 6 months of age until the baby is 72 weeks or 18 months of age, will the symptoms of mental changes and their social interactions begin to change.

Rett syndrome or Rett syndrome is a birth defect that risks making the baby unable to survive for a long time.

Signs & Symptoms

What are the signs and symptoms of Rett syndrome (Rett syndrome)?

Symptoms of Rett syndrome or Rett syndrome the most important is usually the growth and development of infants who appear normal until the age range of 6-18 months.

Other symptoms that can be experienced by babies with Rett syndrome or Rett syndrome is slow head growth, aka the size of a small head circumference (microcephaly).

Decreased ability of the child's muscle function can also be an early symptom of Rett's syndrome or Rett syndrome. This makes your little one usually lose the ability to use his hands properly.

Usually, the child will squeeze and rub their hands together. Over time, your child's social and speaking skills can worsen.

The child will stop talking and have extreme social anxiety and a lack of desire to interact with other people.

Apart from affecting the mental health of children, Rett syndrome also attacks muscle function and coordination. This can be seen from the way the child walks awkwardly or looks stiff.

Girls with Rett syndrome also have respiratory disorders, irritability, and unusual eye movements due to frequent blinking.

Not only that, the symptoms of Rett's syndrome can also be seen when a child's hands and feet are cold, irritable, and have trouble sleeping.

Body spasms and abnormal curvature of the spine (scoliosis) can also be experienced by your little one who is born with this congenital abnormality.

To be clear, various signs and symptoms of Rett syndrome or Rett syndrome is as follows:

Movement and coordination are not normal

This symptom is often preceded by a decrease in the function of the baby's hands to the loss of various abilities such as sitting, crawling, standing, and walking.

This loss of ability related to bodily functions usually happens quickly and then can develop gradually.

This condition makes the baby's muscles become weak and stiff with abnormal movements.

Communication skills are lost

Children who experience Rett syndrome generally loses the ability to speak, eye contact, and communicate with others slowly.

Unlike most children in general, the symptoms of Rett syndrome or Rett syndrome make children seem not interested in toys, interactions with other people, and the surrounding environment.

Hand movements are not normal

Rett syndrome or Rett syndrome is a birth defect in a baby that can cause abnormal and repetitive hand movements.

Hand movements that babies do usually include wringing their hands, clapping their hands, tapping their hands, and rubbing their hands.

Eye movements are not normal

Apart from hand movements, babies with Rett syndromee usually also has abnormal eye movements.

These abnormal eye movements include intense gaze, frequent blinking, crossed eyes, and eyes that close one at a time.

Respiratory disorders

Respiratory distress in infants with Rett syndrome or Rett syndrome are bated breaths, rapid breathing rate (hyperventilation), and inhaling or exhaling as if suppressed.

These respiratory symptoms usually occur when the baby is conscious or not sleeping. Meanwhile, the symptoms of Rett syndrome or Rett syndrome related to respiratory problems when the baby is sleeping are generally in the form of short breathing.

Irritable and crying easily

You can observe a baby with Rett's syndrome if he seems very agitated, angry, fussy, and cries as he gets older.

The cry that comes out of the baby's mouth is linked Rett syndrome can occur suddenly, for no apparent reason, and may even last for several hours.

In addition, babies with this condition usually experience fear and anxiety of their own.

Seizures

Rett syndrome or Rett syndrome is a congenital condition that can cause a child to experience seizure symptoms at least once in a lifetime.

However, just having a seizure does not necessarily mean that your child is experiencing it Rett syndrome. Also observe whether the child has various other symptoms of this syndrome or not.

Sleep disturbance

Sleep disturbance is also one of the symptoms of a baby with Rett syndrome or Rett syndrome.

Certain sleep disorders in babies with this syndrome usually include irregular sleep times, sleeping during the day and being awake at night, as well as waking up at night and crying.

Abnormal curvature of the spine

Abnormal curvature of the spine (scoliosis) in a child with Rett syndrome or Rett syndrome generally occurs around the age of 8 years to age 11 years.

In fact, the severity of this abnormal curvature of the spine can get worse with age.

Irregular heartbeat

Another symptom that a child with Rett syndrome can also experience is an irregular heartbeat. Irregular heartbeat in children with Rett syndrome can be fatal to his health.

Other symptoms

In addition to the various symptoms already mentioned, the child has Rett syndrome or Rett syndrome can also experience symptoms of thin, brittle bones that are prone to fracture.

The size of the hands and feet of babies with this syndrome are also usually small, the child has trouble chewing and swallowing, and has impaired bowel function.

The condition of people with Rett syndrome usually does not improve over time, although it can be relieved by various types of therapy.

Rett syndrome or Rett syndrome is a congenital disorder that children can experience forever.

Sometimes, the condition of the child's body who has it Rett syndrome it can get worse over a very slow pace or the condition may remain stable.

When to see a doctor

Rett syndrome or Rett's syndrome is a congenital disorder that can cause symptoms of varying severity.

If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person's body is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Rett syndrome (Rett syndrome)?

Rett syndrome or Rett syndrome is a congenital birth defect or disorder due to a rare genetic disorder.

The cause of the child having Rett syndrome or Rett syndrome there is a mutation or change in the MECP2 gene on the X chromosome.

The MECP2 gene is responsible for producing certain proteins to support children's brain development. When a child has this gene disorder, it is difficult for the nerve cells in the brain to work properly.

Although Rett syndrome or Rett syndrome is a genetic disorder since newborns, this condition is not a disorder that is passed from parent to child.

Again, this birth defect occurs because of a mutation or change in the child's DNA.

No risk factors have been identified to cause this disease, except that it usually affects girls.

Quoting from the NHS website, most of the causes of Rett syndrome or Rett syndrome occur suddenly with random changes in genes.

Causes of Rett syndrome or Rett syndrome it is more common in girls because there are two copies of the X chromosome in girls.

Thus, baby girls born with one copy of the normal X chromosome and one copy of the MECP2 gene usually show symptoms of Rett syndrome or Rett syndrome.

Meanwhile, male babies only have one copy of the X chromosome and do not have a backup copy of the normal MECP2 gene.

That is why boys with the MECP2 gene mutation usually experience more severe symptoms, even at risk of being fatal.

Risk Factors

What increases your risk of developing Rett syndrome (Rett syndrome)?

The risk of the baby developing Rett's syndrome or Rett syndrome increases when born with female sex.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

Rett syndrome or Rett syndrome is a congenital disorder that can be diagnosed by examining the symptoms during the child's development.

The diagnosis is usually made when the growth in the size of the baby's head is stunted and the abilities it possesses are lost.

The doctor can advise the child to undergo a genetic examination (DNA analysis) to confirm the correctness of the diagnosis.

Genetic testing is done by taking a small amount of blood from the vein in the arm of the hand.

Furthermore, the blood sample is examined in the laboratory to find out about the cause and severity of this congenital abnormality.

What are the treatment options for Rett syndrome (Rett syndrome)?

Treatment for Rett syndrome is useful for supporting children to live well based on their health conditions.

Treatment for Rett's syndrome can include physical therapy to help with movement and speech therapy to help with the child's speech problems.

There is also occupational therapy to help children carry out daily activities (such as bathing and dressing) without the help of other people.

Various therapies can help children who experience it Rett syndrome in order to be able to move normally.

Although in fact it cannot completely normalize conditions, the child's abilities and behavior can at least be much better with therapy.

In addition, medication may also be given, for example, to treat spasms, muscle stiffness, breathing problems, and sleep disorders in children.

But unfortunately, there is no real cure yet Rett syndrome. The daily intake of nutrients for children should also be able to meet their nutritional needs to support children's growth and development.

If you have any questions, consult your doctor for the best solution to your problem.

Hello Health Group does not provide medical advice, diagnosis or treatment.