September 16, 2021
What Is Rett Syndrome? Discuss Its Symptoms And Causes

What Is Rett Syndrome? Discuss Its Symptoms And Causes

Rett syndrome refers to a genetic neurological and developmental disorder that impacts the way of development of your brain. It is a rare developmental and neurological disorder that causes a continuous loss of speech and motor skills.

Babies with this syndrome seem to progress to normal development from the age of six months to eighteen months. They lose the abilities they previously had such as communicating, crawling, walking, or using their hands.

The problems in children with Rett syndrome increase continuously. They face issues with coordination, communication, and muscle use that work to control movements. This syndrome can also induce intellectual disability and seizures.

There is no proper cure available for Rett syndrome. Some potential treatments are used to treat this syndrome. Current treatment works on treating seizures, making communication better, and improving the movements in children.

Treatment also focuses on providing support and care to children and adults who are suffering from Rett syndrome. Doctors also provide support to the families of affected children.

Symptoms

Babies who have Rett syndrome are born with normal delivery and pregnancy. Most infants with the syndrome behave and grow normally for the time period of six months. After that, symptoms of Rett syndrome begin to appear.

Pronounced alterations occur at the age of 12 to 18 months. These changes occur over weeks or months. 

The severity and symptoms of the syndrome vary from child to child. People may suffer following symptoms with Rett syndrome.

Slowed Growth

In this syndrome, the growth of the brain slows after birth. The head of children becomes smaller than its normal size. It is called microcephaly. It is the first sign of Rett syndrome in your children. Other parts of the body have delayed growth with the increase of the age of children.

Loss Of Normal Coordination And Movements In Children

The first sign of Rett syndrome in children is the reduction in the ability to walk normally, crawl and control hand movements. This loss is continuous and rapid. Muscles become spastic and weak with positioning and abnormal movements.

Communication Abilities Loss

Children who suffer the Rett syndrome lose their abilities to make eye contact, speak, and communicate using other ways. They do not take much interest in toys, other people, and their surroundings. Rapid changes occur in some children such as sudden speech loss.

It is possible for children to regain eye contact over time. They also learn to develop nonverbal communication skills.

Abnormal Movements Of Hands

Children with Rett syndrome develop purposeless and repetitive movements of hands. These movements include clapping, tubbing, squeezing, tapping, and hand wringing.

Unusual Movements Of Eyes

Children affected with Rett syndrome have unusual movements of their eyes such as blinking, staring, closing one eye, and crossed eyes.

Issues Of Breathing

These problems include abnormally rapid breathing or hyperventilation, breath-holding, forceful saliva or air exhalation, and swallowing air. Such problems appear during waking hours. 

But disturbances in breathing like periodic breathing and shallow breathing occur during a child’s sleep.

Crying And Irritability

Agitation and irritability increase in children with Rett syndrome with the increases of their age. Periods of screaming and crying initiates suddenly without any reason. These issues last for many hours. Some children may suffer anxiety and fears.

Abnormal Behaviors

These behaviors include sudden facial expressions that are odd, long laughter bouts, hand licking, and grasping of clothing and hair.

Cognitive Abilities

Loss of intellectual function causes the loss of skills.

Seizures

People with Rett syndrome suffer seizures sometimes at any stage of their life. Multiple types of seizures may appear in these people.

Abnormal Spine Curvature (Scoliosis)

Condition of scoliosis is common in children with Rett syndrome. It typically initiates between the age of 8 to 11 years. Scoliosis increases with the increase of age. Doctors do surgery in case of severe curvature.

Irregular Heartbeat

It is a life-threatening issue for children. Adults with Rett syndrome can face sudden death due to irregular heartbeat.

Sleep Disturbances

Abnormal patterns of sleep include falling asleep during the whole day, waking at night screaming and crying, and irregular times of sleep.

Other Symptoms

Different signs and symptoms can appear in children with Rett syndrome. Fragile and thin bones become prone to fractures. Small feet and hands remain cold usually. Children face problems swallowing and chewing. 

Moreover, issues with bowel function occur during this syndrome. Another symptom that people with Rett syndrome experience is teeth grinding.

Causes 

Rett syndrome is a genetic disorder. It is a rare condition. Several variants and classic Rett syndrome can appear with mild and severe symptoms. These symptoms are associated with specific mutations of genes. 

Genetic mutations that induce the disease occur in a random way in the MECP2 gene usually. Rett syndrome can also be inherited in a few cases. 

The mutation causes issues with protein production that is critical for the development of the brain. The exact cause of the disease is not understood completely. Researchers are still studying the cause of this syndrome.

 

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