What is Rett Syndrome?
Rett syndrome is a rare genetic neurological developmental disorder that impacts the process of brain development. The condition causes progressive loss of language and motor skills. Rett syndrome is most commonly seen in females.
The majority of infants suffering from Rett syndrome appear to progress as expected in the first six months of their lives. The babies lose the skills they used to have like the ability to walk, crawl communicate, or even use their hands.
As time passes, children suffering from Rett syndrome are experiencing more difficulty using the muscles that control coordination, movement, and communication. Rett syndrome may also trigger seizures as well as intellectual impairments. Unusual hand movements such as frequent clapping or rubbing take the place of hand-to-hand use that is purposeful.
While there is no cure for Rett syndrome, possible treatments are being investigated. The current treatment focuses on improving the quality of movement and communication as well as treating seizures. Offering support and care for those with Rett syndrome as well as their families.
What Are The Signs of Rett Syndrome?
Babies born with Rett syndrome are usually born following a normal birth and pregnancy. The majority of babies who suffer from Rett syndrome appear to develop and behave in a normal manner during the first six months. Then the signs and symptoms begin to show.
The most prominent changes usually occur between 12 and 18 months of age over months or weeks. The symptoms and severity can differ significantly from child to child.
The most prominent symptoms and signs are:
Slow growth. Brain growth slows after birth. The smaller-than-normal head size (microcephaly) is often the first indication that a child is suffering from Rett syndrome. As children age it is possible to see a delay in growth in other areas of the body.
Inability to move and lack of coordination capabilities. The first indications are usually decreased hand control as well as a decrease in the ability to walk or crawl. The decline in capabilities occurs quickly before it becomes with increasing speed. In the end, muscles weaken or stiff, and they exhibit unusual movements and posture.
The loss of communication skills. Children who suffer from Rett syndrome usually are unable talk and to look at each other as well as to communicate in various ways. They may lose interest in toys, other people, and the environment. Certain children experience sudden shifts, such as an abrupt loss of the ability to speak. In time, children will gradually return to eye contact, and also develop the ability to communicate non-verbally.
Unusual hand movements. Children suffering from Rett syndrome typically have repetitive, unintentional hand movements that vary in each child. Hand movements can include hand-wringing and squeezing or tapping.
Other signs and symptoms could be:
What is Rett Syndrome?
Unusual eye movements. Children who have Rett syndrome may exhibit odd eye movements. These include flashing eyes, intense stares and crossed eyes, or closing one eye at a moment.
Problems with breathing. They can be caused by breath-holding and fast breathing (hyperventilation) as well as blowing forcefully out saliva or air or swallowing air. These issues usually occur during the daytime. Other breathing problems, such as slow breathing or short intervals of breathing that stop (apnea) may occur in sleep.
Crying and Irritability. Children suffering from Rett syndrome are likely to become angry and frustrated as they age. The crying or screaming can occur suddenly, with no reason whatsoever, and can last for hours. Some children might experience fear and anxiety.
Other bizarre behavior. They could include, for instance strange, sudden facial expressions or long bursts of laughter. Other unusual behaviors include hand-licking and grasping of hair, or clothes.
Intellectual disabilities. The inability to perform tasks may be a result of losing the capability to consider, perceive, and learn.
Seizures. The majority of people with Rett syndrome have seizures at times in their lives. Many types of seizures may occur, and they are often associated with changes in the electroencephalogram (EEG).
A curvature in the spine that is not straight (scoliosis). Scoliosis is often associated with Rett syndrome. It usually starts between the ages of 8 to 11 years old and increases with age. Surgery is sometimes required when the curvature is extreme.
Heartbeat irregularity. This is a serious problem for children and adults suffering from Rett syndrome and may cause sudden death.
Sleep disturbances. Sleep disturbances can be caused by irregular sleeping patterns, falling asleep in the middle of the day and remaining awake in the night, or waking in the middle of the night screaming or crying.
Other signs. Many other symptoms may be present including a decrease in reaction to pain; hands that are small and feet that are typically cold; difficulties with swallowing and chewing, issues with bowel function, and grinding of teeth.
The stages of Rett syndrome
What is Rett Syndrome?
Rett syndrome is typically divided into four phases:
First Stage: Very early beginning. The signs and symptoms are not obvious and are often missed during the initial stage, which begins between six and 18 months old. Stage 1 may last for just a few months or even one year. Babies in this stage might exhibit less eye contact and may begin losing interest in toys. They might also experience slowness in sitting or crawling.
Stage 2: Rapid deterioration. Beginning between 1 to 4 years old children lose the capacity to perform the skills they did. The loss may be swift or gradual, extending over weeks or months. Signs of Rett syndrome are seen with a slowing of growth of the head, abnormal movement of the hands, hyperventilating crying, or screaming without obvious reason, difficulties in coordination and movement, and a decrease in communication and social interaction.
Stage 3: Plateau. The third stage generally occurs between 2 to 10 years old, and can last for several years. Even though issues with movement remain the behavior can improve which means less crying, and irritation and an improvement in hand usage and communication. The symptoms of seizures can start at this stage and usually don’t develop until the age of two years.
Stage 4: Late motor deterioration. This phase usually starts around 10 years of age and may last for decades or years. It is characterized by a decrease in mobility and muscle weakness as well as joint contractures and scoliosis. Hand abilities are generally steady or increase slightly while seizures might occur less frequently.
When is the best time to visit a doctor?
Signs or symptoms of Rett syndrome may be subtle during the early stages. Consult your child’s healthcare doctor immediately whenever you observe physical issues or behavioral changes after what seems to be normal development.
Changes or problems could include:
The growth rate of your child’s head, or other body parts
Mobility or coordination may be impaired.
Hand movements repetitively
Loss of eye contact or a loss of interest in normal things
Language development delays or loss of prior ability to speak
The loss of achieved milestones or knowledge
Reasons
Rett syndrome is an uncommon genetic disorder that is extremely rare. The classical Rett syndrome and a variety of variations (atypical Rett syndrome) with milder or more severe symptoms result from a variety of specific genetic mutations.
The genetic mutations that trigger Rett syndrome can occur at random typically within the MECP2 gene. A small percentage of instances of the genetic disorder can be passed down through the generations. Genetic changes are believed to cause problems with the production of proteins that are essential for the development of the brain. But the reason is not yet fully understood and is being researched.
Rett Syndrome in Males
Males are born with a different chromosome sequence in comparison to females, males that suffer from the genetic mutations which cause Rett syndrome suffer in a devastating way. The majority of them die before birth or during the early stages of infancy.
Very few males exhibit a genetic mutation that causes a less destructive version associated with Rett syndrome. Similar to females suffering from Rett syndrome, males tend to be able to live into adulthood, however, they’re at risk of several cognitive and developmental issues.
Risk Factors
Rett syndrome is a rare condition. The genetic factors that cause the condition are not random and no known risk factors have been determined. In a small percentage of cases, genetic factors such as having close relatives of someone who suffers from Rett syndrome could have a part to play.
Complications
The complications of Rett syndrome are:
Sleep disorders cause severe disturbance to sleep for the person suffering from Rett syndrome and their family members.
Inability to eat, which leads to low nutrition and slow growth.
Problems with the bladder and bowel include constipation, gastroesophageal reflux disease (GERD), bowel problems, urinary incontinence, and gallbladder diseases.
It can also be caused by digestive problems as well as bone fractures.
Joint, bone, and muscle issues.
Anxiety and problematic behavior can hinder social interaction.
In need of care for the rest of their lives and help with daily living activities.
A shorter life span. While most people who suffer from Rett syndrome live to the age of adulthood, they may not be as long as normal people due to heart conditions and other health issues.
Prevention
What is Rett Syndrome?
There’s no method to avoid Rett syndrome. Most of the time, the genetic mutations that trigger the condition occur on their own. However, should a kid or a family member be suffering from Rett syndrome, then you might be able to inquire with your physician regarding genetic testing and counseling.