What are the other Names for this Condition? (Also known as/Synonyms)

• Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
• Cerebroatrophic Hyperammonemia
• Rett’s Disorder

What is Rett Syndrome? (Definition/Background Information)

• Rett Syndrome is a rare inherited disorder. In this congenital disorder the grey matter of the brain is affected. Some consider Rett Syndrome to be a severe form of autism
• The brain has white matter and grey matter. The grey matter is an important component of the brain. It plays an important role in controlling the senses, muscles, including memory and emotions
• Rett Syndrome is caused by mutation in specific genes. It almost only affects girls. The affected child is unable to perform useful and purposeful movements. They also experience difficulty in social interactions and are unable to communicate effectively
• The signs and symptoms of Rett Syndrome are many and varied, since the central nervous system is affected. There are 4 stages of the signs and symptoms that begins with the early-onset stage and progresses to a late motor deterioration stage

Who gets Rett Syndrome? (Age and Sex Distribution)

• Rett Syndrome is a genetic disorder that is first noticed in infancy. The symptoms begin to show in babies after 6 months, but before they are 18 months of age
• Rett Syndrome almost exclusively affects girls
• All racial and ethnic groups are equally affected

What are the Risk Factors for Rett Syndrome? (Predisposing Factors)

The risk factors of Rett Syndrome include:

• Having a close family member with the disorder, increases one’s risk; since, Rett Syndrome is a genetic disorder that is inherited
• Being a girl is another important risk factor for development of this disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Rett Syndrome? (Etiology)

• Rett Syndrome is a genetic disorder that is caused by alterations occurring in the MECP 2 gene, which is present on the X chromosome
• The MECP 2 gene encodes a protein, which is very vital for early and proper brain development and function
• It has been observed that mutations in CDKL5 and FOXG1 genes can also lead to the development of an atypical form of Rett Syndrome

What are the Signs and Symptoms of Rett Syndrome?

Rett Syndrome is a progressive, developmental disorder. The signs and symptoms are subdivided into 4 stages of progression. These include:

• Stage I or early-onset
• Stage II or rapid destructive stage
• Stage III or plateau or pseudo-stationary stage
• Stage IV - late motor deterioration stage

Abnormal growth, signs and symptoms related to muscle control include:

• Difficulty in normal muscular movement and co-ordination, such as:
  • Loss of motor skills begins between 12 and 18 months
  • Inability to crawl or walk are usually the first signs of Rett Syndrome
• Abnormal eye movements are often present. These include intense staring, blinking, or closing one eye at a time, which is a characteristic feature of a child with Rett Syndrome
• Abnormal hand movements can be detected early in life. These may include movements, like hand wriggling, grabbing, squeezing, clapping, or rubbing
• Slow developmental growth:
  • Brain growth is slow after birth
  • Head size appears smaller than normal (termed as microcephaly)
  • As the child grows, a delayed development becomes evident that affects other parts of the body as well
  • The affected children are usually shorter than normal
• Convulsion (seizure): These may vary from periodic muscle spasms to severe forms of epilepsy
• Scoliosis: A defect of the spine causing an abnormal spine curvature
• Irregular heartbeats can cause fainting, palpitations, and occasionally fatal arrhythmias
• Breathing problems:
  • Episodes of apnea (temporary cessation of breath)
  • Increased breathing rate (hyperventilation)
  • Difficulty in exhalation of air
  • Difficulty in exhalation of saliva

The child may have behavioral issues, which may include:

• Children suffering from Rett Syndrome lose their ability to speak
• They show a disinterest in things that a normal child at their age would be interested in
• The child is easily agitated and irritated
• Strange facial expressions
• Long bouts of laughter and screaming
• Grasping hair or clothes

How is Rett Syndrome Diagnosed?

The set of criteria given by the Diagnostic and Statistical Manual of Mental Disorders (published by American Psychiatric Association) should be met, in order to confirm Rett Syndrome. These include:

• Normal development is noticed till 5 months
• Normal head circumference at birth
• Reduced language skills
• Losing hand movements
• Development of repetitive hand movements, between age 5 and 30 months
• No interaction with others
• Unsteadiness while walking
• Difficulties in torso movements
• Not able to communicate properly

Apart from these clinical signs and syndrome, a diagnosis of Rett Syndrome may involve the following:

• Genetic testing for Rett Syndrome: A blood sample is sent to the lab and the child’s DNA is tested for the genetic abnormality causing the disorder
• Laboratory tests required to confirm Rett Syndrome include:
  • Blood tests
  • Urine tests
  • Nerve conduction studies for muscle issues
  • MRI and CT scans
  • Hearing tests for hearing difficulties
  • Vision tests for vision difficulties
  • Brain activity tests, such as electroencephalogram (EEG) for studying convulsions

A differential diagnosis is considered to rule out other diseases and conditions, such as:

• Autism
• Cerebral palsy
• Hearing and vision problems, due to other underlying conditions
• Epilepsy
• Degeneration disorders that have similar signs and symptoms
• Brain disorders, caused by trauma or injury
• Prenatal brain damage that resemble Rett Syndrome in signs and symptoms
• Other genetic disorders

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Rett Syndrome?

Rett Syndrome may lead to many complications affecting various parts of the body. Some of the complications may include:

• Movement problems, such as:
  • Walking difficulty
  • Irregularity of hand movements
• Abnormal changes in the sleeping routine
• Eating difficulties can result in nutritional issues
• Delayed growth
• Constipation, which can be severe and long-term
• Cardiac rhythm abnormalities - abnormal heart rhythms can occur; some of these can be fatal
• Bones become thin and weak and are easily prone to fractures
• Scoliosis - an abnormal curving of the spine that may require braces, or surgery for correction
• Decreased life span: The life span of those with Rett Syndrome is shortened, due to a variety of health complications

How is Rett Syndrome Treated?

Rett Syndrome is a genetic disease that cannot be completely cured, but the signs and symptoms can be managed. A team of healthcare professionals is needed. The management and treatment of Rett syndrome includes the following factors:

• Regular medical care - the treatment is generally lifelong with regular follow-up visits
• Academic, social, and job therapy are essential
• Medications: Certain medicines are prescribed for controlling convulsions and muscle stiffness
• Physical and speech therapy:
  • Children suffering from scoliosis are given physical therapy; the use of braces is also recommended, if scoliosis is severe
  • Physical therapy also helps rectify problems with walking, balance, and flexibility
• Occupational therapy:
  • This therapy is done to put the hands into purposeful use and avoid repetitive movements of the arms and hands
  • Occupational therapy helps in decreasing the burden of repetitive motions in day-to-day activities
• Nutritional supplements:
  • A nutritionist can help plan a well-balanced diet to help children with Rett Syndrome
  • In severe cases, where individuals cannot swallow well, feeding assistance is often needed. Feeding can be done either by placing a tube through the nose, or directly into the stomach

How can Rett Syndrome be Prevented?

• Currently, there are no specific methods or guidelines to prevent Rett Syndrome genetic condition
• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Rett Syndrome? (Outcomes/Resolutions)

• A team of healthcare professionals is needed to treat Rett Syndrome
• The prognosis for Rett Syndrome is dependent upon the syndrome onset period and the severity of the symptoms. Severe signs and symptoms indicate a worse prognosis
• Generally, most individuals are able to survive into their 40s and 50s

Additional and Relevant Useful Information for Rett Syndrome:

• Autism is a developmental disorder characterized by social impairment, communication difficulties, and repetitive behavior. Usually, signs of this developmental disorder are observed by the age of 3 years and they continue to exist, throughout an individual’s life

The following article link will help you understand autism:

https://www.dovemed.com/diseases-conditions/autism/