Rett Syndrome Research Paper

Rett syndrome is a postnatal neurodevelopmental disorder that mainly affects girls but is rarely found in boys as well. Rett syndrome strikes all racial and ethnic groups, and occurs worldwide in 1 of every 10,000 female births. It was first identified by Dr. Andreas Rett, an Austrian physician who described it in an article published in 1966. Even though Rett described the disorder in his 1966 article it went another 17 years until being generally recognized after Swedish researcher Dr. Bengt Hagberg published an article about the disorder in 1983 (Rett Syndrome Fact Sheet).

Rett syndrome is often misdiagnosed as autism, cerebral palsy, or a nonspecific developmental delay. Children with Rett syndrome tend to exhibit autistic-like behaviors

in the early stages(Rett Syndrome Fact Sheet).

Rett syndrome is primarily caused by a random mutation in the MECP2 gene on the X chromosome.

The MECP2 gene makes a protein, also called MECP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally(Rett Syndrome - NORD). Rett syndrome is a genetic disorder of developmental failure of brain maturation. This is thought to occur when subsets of neurons and their connections are disrupted during a dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development. How mutations in MeCP2 lead to Retts is not well understood but is the focus of intense research.

The symptoms of Rett syndrome can vary dramatically from one person to another. This is why a wide range of disabilities are associated with Rett syndrome. The symptoms often appear in stages. Not all individuals affected by it will experience all of the

symptoms.

Retts causes Apraxia (Dyspraxia), the inability or difficulty for the body to perform motor movements. This is the most fundamental and severely handicapping aspect of Rett syndrome. It can interfere with every body movement, including eye gaze and speech, making it difficult for the person with Rett syndrome to do what they want to do. Due to this apraxia and their inabil­ity to speak, it may be difficult to make an accurate assessment of their intelligence. Most traditional testing methods require them to use their hands or to talk, which may be impossible for the person with Rett syndrome (Hunter 5).

Other symptoms include walking on the toes, sleep problems, a wide-based gait, teeth grinding and difficulty chewing, slowed growth, seizures, cognitive disabilities, and breathing difficulties while awake such as hyperventilation, apnea (breath holding), and air swallowing.

It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.

There are 4 stages of Rett syndrome that break up the symptoms. Stage one: early signs and slow development; Stage two: regression; Stage three: plateau; Stage four: deterioration in movement. Even though the stages are different some symptoms will overlap between the stages(Signs and Symptoms: Stages).

Stage one describes the changes that typically appear in the first six to 18 months of the infant's life. These include a general slowness in development; floppiness (hypotonia); difficulty feeding; abnormal hand movements (such as repeatedly making wringing, clapping or washing motions with the hands); lack of interest in toys; poor coordination of

limbs

Stage two is where a child starts to lose some of their abilities. This stage usually begins between the ages of one and four and may last for weeks or months.
The child will gradually or suddenly start to develop severe problems with communication, language, learning, co-ordination and other brain functions. Signs at this stage include loss of ability to use the hands purposefully; repetitive and uncontrollable hand movements take over; periods of distress, irritability and sometimes screaming for no obvious reason; social withdrawal, a loss of interest in people and avoidance of eye contact; unsteadiness and awkwardness when walking; rapid or slow breathing, including periods where the child holds their breath; problems sleeping; slowing growth of head, small head size; difficulty eating, chewing or swallowing and tummy aches, bloating and constipation.

Stage three of the condition usually begins between ages two and ten and can last for years. At this stage, girls are considered to have emerged from the period of regression in stage two. Prominent symptoms during this stage can include floppiness of the limbs and difficulty moving around; not being able to use their hands to hold, carry or manipulate objects, with the persistence of repetitive hand movements; teeth grinding and abnormal tongue movements; not gaining much weight. Most children will also develop epilepsy, irregular breathing patterns and some may develop arrhythmias or heart rhythm problems. During this stage there may be some improvements in earlier problems during this stage as well, such as an improvement in behaviour, with less irritability and crying; increased interest in her surroundings; improvements in alertness, attention span, interest in people and communication; improvement in walking ability. Many girls remain in this stage for most of their life.