What is Rett Syndrome: Symptoms, Diagnosis, Treatment

Rett Syndrome is a neurodevelopmental disorder that affects girls almost exclusively. It is characterized by normal early development followed by a slowing of growth and the appearance of characteristic symptoms. These may include loss of purposeful use of the hands, problems with speech and communication, slowed brain and head growth, and impaired social functioning.

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Introduction to Rett Syndrome

Rett syndrome is a disorder that affects the nervous system and causes problems with brain development. The syndrome is characterized by mental retardation, difficulties with motor skills and speech, and problems with seizures. There is no cure for the syndrome, but there are treatments that can help improve the symptoms.

What is Rett Syndrome?

Rett Syndrome is a rare genetic neurological and developmental disorder that typically affects only girls.The syndrome is characterized by normal early development followed by a period of slowed growth and regression of mental and physical abilities. Rett Syndrome can cause a wide range of symptoms, which can vary from mild to severe.There is currently no cure for Rett Syndrome, but there are treatments available to help manage symptoms and improve quality of life.

Statistics

Approximately one in every 10,000-15,000 female births worldwide are affected by Rett syndrome, a neurodevelopmental disorder that leads to intellectual disability and problems with movement and communication. There is no known cure, but early diagnosis and intervention can improve quality of life.

Causes

There is currently no known cure for Rett Syndrome, however researchers believe that the earlier the diagnosis and intervention, the better the outcome will be for the child. While there is no one specific cause of Rett Syndrome, researchers have identified a mutation in a gene called MECP2 which is present in almost all girls with Rett Syndrome. MECP2 is located on the X chromosome and since males have two X chromosomes (and females have one), they are generally able to compensate for the mutated gene. It is believed that some girls with a less severe form of Rett Syndrome may have a mutation in MECP2 on their second X chromosome.

Symptoms

Rett syndrome is a progressive neurological disorder that primarily affects girls. It is characterized by normal early development followed by a period of developmental regression and loss of acquired purposeful hand skills. The regression period is typically around 6-18 months of age. Early symptoms include slowed head growth, problems with crawling and walking, and decreased eye contact.

Early symptoms

Rett syndrome is a rare, progressive neurological disorder that affects mostly girls. Early symptoms include poor muscle tone, developmental delays, and problems with motor skills and communication. As the disease progresses, affected girls experience problems with movement, intellectual disability, and seizures. There is no cure for Rett syndrome, but symptoms can be managed with early intervention, medications, and other therapies.

Late symptoms

kids with Rett syndrome often have progressive loss of purposeful use of their hands, called de-automatization. This usually starts around 18 to 24 months, and the child may stop pointing or showing objects and stop using her hands to play. The child’s social engagement often improves for a time after de-automatization starts, but she eventually becomes more withdrawn and less engaged with people and her surroundings.

Diagnosis

Rett syndrome is a rare genetic neurological and developmental disorder that affects mostly girls. It leads to a progressive loss of motor and social skills There is currently no cure for Rett syndrome, but treatment can help manage some of the symptoms.

Physical examination

During a physical examination, the doctor will look for signs and symptoms that are common in Rett syndrome. These may include:

-A head that is small for age
-Missed growth milestones, such as sitting up or walking
-Decreased muscle tone
-Unusual hand movements, such as wringing or washing
-Loss of purposeful use of the hands
-Abnormal gait or movement
-Loss of speech and language skills
-Involuntary repetitive movements of the hands and feet

In some cases, the doctor may also order tests to rule out other conditions with similar symptoms, such as:

autism spectrum disorder
Angelman syndrome
Caudal regression syndrome
West syndrome

Neurological examination

During a neurological examination, the doctor will test the baby’s reflexes, muscle strength, and movement. The baby may also have an EEG to assess brain activity. MRI and genetic testing may also be done to confirm the diagnosis.

Genetic testing

There are several ways to diagnosis Rett Syndrome. One way is through a clinical diagnosis. This is based on the signs and symptoms present in the individual. Another way is through DNA testing, which can confirm the MECP2 mutation.

A clinical diagnosis of Rett Syndrome can be made if an individual meets five of the following criteria:
– deceleration of head growth between ages 5 to 48 months
– loss of previously acquired purposeful hand skills between ages 5 to 30 months with the development of stereotyped hand movements (e.g. wringing, rubbing)
– gaze abnormalities (e.g. decreased eye contact, reflections in eyes during pictures)
– marked impairment in communication and social interactions as well as developmentally appropriate babbling or gesturing not evident by 12 months of age
– onset of gait or trunk apraxia after independent walking has been achieved (i.e., staggering, foot dragging, proneness, clumsiness)
– slowed brain growth as shown on brain imaging studies ( MRI) or EEG patterns consistent with Rett syndrome
– breathing irregularities during sleep secondary to central apnea or hypoventilation
– distinctive patterns of hand movements – such as wringing, washing, or clapping – appearing after loss of purposeful hand skills

Treatment

There is no one definitive way to treat Rett syndrome as of now, but treatments are available to manage certain symptoms and improve the quality of life for patients and families. While there is no cure for the condition, early and aggressive intervention can make a big difference in the long-term outcome. In this section, we will cover the various treatment options available for Rett syndrome.

Medications

There are currently no medications that can cure Rett syndrome or reverse its effects. However, treatment can help relieve some symptoms and make the condition more manageable. The focus of treatment is on improving the quality of life for girls and women with Rett syndrome and their families.

The most common symptoms that are treated with medication include:
-Sleep problems
-Anxiety
-Depression
-Aggression
-Hyperactivity
-Obsessive compulsive behavior
– seizures

Doctors may also prescribe medications to help with other symptoms such as constipation, drooling, and pain. Medications used to treat Rett syndrome include:
-Antidepressants: These medications can help improve mood, sleep, and appetite. They can also help reduce anxiety and obsessive compulsive behaviors. Commonly prescribed antidepressants for Rett syndrome include fluoxetine (Prozac), sertraline (Zoloft), and paroxetine (Paxil).
-Anti-anxiety medications: These medications can help reduce anxiety and improve sleep. Commonly prescribed anti-anxiety medications for Rett syndrome include lorazepam (Ativan) and diazepam (Valium).
-Anti- seizure medications: These medications can help control seizures. Commonly prescribed anti – seizure medications for Rett syndrome include carbamazepine (Tegretol) and valproic acid (Depakote).
-Pain relievers: These medications can help relieve pain associated with Rett syndrome. Commonly prescribed pain relievers for Rett syndrome include acetaminophen (Tylenol) and ibuprofen (Advil).

Therapies

There is currently no cure for Rett syndrome, however there are therapies available that can help to lessen the symptoms and improve quality of life.

The main aim of therapy is to improve communication, mobility and self-care skills, as well as easing problems with breathing, constipation and scoliosis (curvature of the spine).

Speech and language therapy can help to develop communication skills, while physiotherapy and occupational therapy can help with mobility problems.

People with Rett syndrome often have difficulty sleeping, so measures to promote good sleep patterns, such as a regular bedtime routine, may be recommended.

Surgery

There is no cure for Rett syndrome, but there are treatments that can help lessen symptoms and make the condition more manageable. In some cases, surgery may be recommended to correct physical abnormalities or to improve the function of certain body systems. For example, surgery may be used to:

-Release the tight muscles in the hands so that they can be placed in a more functional position
-Repair heart defects
-Place a feeding tube if children are unable to eat by mouth

Prognosis

Rett syndrome is a disorder that occurs almost exclusively in girls and leads to serious, lifelong impairments. Although most girls with Rett syndrome seem to develop normally until 6-18 months of age, they soon begin to show subtle changes in their brain development.

Life expectancy

Although the majority of individuals with Rett syndrome will live into adulthood, the life expectancy for women with Rett syndrome is uncertain. In a study that followed115 girls with Rett syndrome from diagnosis until death, the mean age of death was 21 years, with a range from 14 months to 52 years. Factors such as severity of symptoms, age at onset of symptoms, and access to supportive care may affect life expectancy.

Quality of life

Children with Rett syndrome have a greatly reduced quality of life. Severely affected children are completely dependent on others for their care and cannot communicate or control their movements. Most children with the condition will never be able to walk, talk, or care for themselves.

Many children with Rett syndrome require special education and behavioural therapies to help them cope with the condition. Some children may also require feeding tubes and ventilation to assist with breathing.

Although there is currently no cure for Rett syndrome, early diagnosis and intervention can improve the long-term outlook for affected children. With proper support and care, most children with Rett syndrome can grow up to lead happy and fulfilling lives.