Symptoms of Rett Syndrome


Rett syndrome is a disorder that leads to physical and intellectual disability from a very young age. It is most likely to affect girls and is expected to occur between 6-18 months of age. The symptoms and signs of the syndrome are divided amongst four stages; however, each stage might show different signs and symptoms in different children. Symptoms of Rett syndrome can vary between babies and adults. The best way to diagnose the disorder is to strictly observe the signs that are present in the baby and how likely they are going to affect the daily functioning. Many babies go through genetic testing in order to diagnose this problem. However, early intervention can help improve the condition of the baby, and they can reach their maximum potential. Early intervention, in many cases, can ease the pain of


What are the known symptoms of Rett syndrome

There are various ways to identify that someone is suffering through a Rett Syndrome. The symptoms of the disorder are as follows:


Growth Defects

The first and foremost symptom that one can detect is the presence of a growth defect. The child might have a small head, a condition that is most commonly termed as microcephaly. The hands, feet, and other body parts are not developed according to their age, or they are not proportionate enough with the rest of their body.


Problems related to Motor Skills

Such children also have poor motor skills, especially during the age of 1-4 years. They face difficulty in holding things or making hand movements. They are also unlikely to crawl or walk appropriately in a clear manner. Furthermore, in some cases, the child might lose control over the skills they have learned before. For instance, if a child could crawl before, then, a situation might arise where he stops crawling all at once. They might show stiff movements with sustained muscle contractions, and this condition is referred to as dystonia.


Difficulty in communicating

Furthermore, children with Rett syndrome also have difficulty in communicating as they are unable to talk properly or utter meaningful words. Their symptoms are very much alike autism as children with this disorder are isolated as they withdraw themselves socially. They also avoid eye contact, along with showing disinterest in their surroundings and the toys they used to play.


Problem of Apraxia

In some cases, the child might develop a condition called Apraxia. Apraxia is the condition under which both communication and movement of the child is restricted. They are unable to perform functions they used to do in the past, even though they are aware of what the situation demands from them. They are likely to respond, and they will try their best to comply. However, in many cases, it will be beyond their control.


Scoliosis

Loss of body balance, causing problems walking or sitting straight. one of the common complications of this balance issues is scoliosis (curvature of the spine).it's necessary to Begin treatment as soon as any asymmetry of the spine is seen. Intensive physical therapy

and hydrotherapy can lead to an improvement and postpone or even prevent surgery.


Limited or no hand movements

As the stages of the Rett Syndrome progresses, the child might lose the ability to make hand movements. In some cases, the movement might be limited, but there are a few cases where there is no hand movement at all.


Hand Stereotypies in Rett Syndrome: Hand washing and wringing

Patients with Rett can have repetitive hand movements called hand stereotypies. The children can make hand movements like squeezing, rubbing, clapping, washing and wringing, or putting the hand in their mouth all the time. Sometimes they will move their hands behind their back.


Unusual Eye Movements

Parents might notice significant eye movements as such children stare and blink repeatedly. They also have a crossed eye, or their one eye might be closed at specific points throughout the day.


Irritation

The child suffering through this disorder feels more irritated and agitated, and therefore this might result in repeated episodes of crying. There is no evident reason behind the agitation and prolonged episodes of crying. In case of panic attacks, parents might notice their child constantly grinding the teeth. It shows the amount of stress and anxiety the child is going through because of the disorder he has.


Seizures

As the problem progresses, the child is going to have repeated episodes of seizures. It can be either during the day or at night when the child is asleep. The severity and tendency of the seizure will vary from person to person.


Irregular Heartbeat

Many people suffering through a Rett syndrome die an unexpected and sudden death. The reason is unknown, but many experts and medical practitioners associate it with the heart. It occurs due to the problems or errors that exist in the electrical nerve impulses of the heart. The electrical nerve impulses are fundamental to regulate the heartbeat along with ensuring that the heart is pumping blood in a regular and smooth manner.

Sleeping Disorder and Irregular Sleep Patterns

The child might show signs of an irregular sleep pattern; for instance, the child might sleep throughout the day and stay awake at night. However, this isn't very easy to diagnose in newly born babies until their routine is fixed, but it should be observed in babies that are between 6-18 months of age. They might learn how to regulate their sleep patterns, but with time they can lose control, thus leading to an irregular sleep pattern.


Osteopenia

Osteopenia is the most common problem that can be found in children diagnosed with Rett Syndrome. Osteopenia is the condition in which the patients might go through the process of mineralization of bones. Rett syndrome causes the bones to become weaker than normal. The bones become weak and fragile, and therefore the child can easily fracture them even after a minor fall.


Gastrointestinal Problems

Children diagnosed with Rett Syndrome have severe gastrointestinal problems like constipation, abnormal dilation of the colon, and gastroesophageal reflux. In rare cases, the baby might develop gallstones that need to be removed as soon as possible.


Rett Syndrome lifespan

The average lifespan for those who suffer from Rett is until their 50s. Of course, it still depends on how severe Rett syndrome affected them. For example, epilepsy with strong seizures is known to affect the brain. Children that never had (or lost) their ability to walk has more chances for back problems that can lead to more issues.

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