Rett syndrome

Rett syndrome

Rett syndrome is a rare genetic neurological disorder that affects brain development resulting in both mental and physical disability. It occurs mostly in females leading from the age of 6 to 18 months. It affects every life aspect like in walking, eating, speaking, and breathing ease.

History

A pediatrician in Doctor Andreas Rett in 1954 observed two girls making similar repetitive hand washing motions in Vienna, Austria. He moved forward, made a comparison of the two girls clinical as well as developmental histories. After making the comparisons, he noted that their development was considerably alike. The doctor had other 6 girls who behaved in a similar manner; he made a film of the girls and explored Europe to identify children with similar symptoms. In 1966 Dr. Rett published his result in various German journals.  This discovery was not an accident but a chance.

Dr. Bengt was aware of similar symptoms of some girls in 1960. In 1982 Dr. Bengt Hagberg wrote and article about Rett syndrome. The article increases the Rett syndrome profile, and it formed a breakthrough for communicating about the syndrome. Dr. Rett was honored as the pioneer by naming it as Rett syndrome. In 1999 a major breakthrough occurred when Ruthie Amir (a researcher at Baylor University)  discovered MECP2 gene mutation is the cause of Rett syndrome. The gene is found in the X chromosome Xq28 site. The discovery was and evidence that Rett syndrome is an x chromosome linked disorder providing an explanation as to why it is a female disorder.

Rett syndrome stages

It is categorized into four stages.

• Stage 1 (early onset)- it starts from 6 to 18 months, and subtle signs are overlooked easily during this stage. Babies might show less eye contact as well as begin to interest for toys. Walking and crawling delays may be observed at this stage;
• Stage II (rapid deterioration)- it starts from 1 to 4 years, and children are not able to perform the skills they practiced in the past. The change can either be gradual or rapid, and they include abnormal hand movements, screaming, and slowed head growth.
• Stage III (plateau)- takes place between the age of 2 to 10 years and can continue for several years. There could improved hand movements and communication.
• Stage IV (later motor deterioration)- it starts at 10 years may last for several decades. It is characterized by scoliosis, muscle weakness, mobility reduction, and joint contractures.

Symptoms and signs (Characteristics)

Babies with Rett syndrome are born following a typically normal pregnancy and delivery. Most of them grow as well as behave normally for the first 6 months. Signs and symptoms of the Rett syndrome start to be visible after 6 months. Most changes take place after 12 to 18 months over a duration of either weeks or months. Rett syndrome severity and symptoms can greatly vary from one child to another. The symptoms and signs include:

Slow growth due to slow brain development after birth. The first sign is abnormally small head size. The growth of other body parts becomes slower as a child gets older. Abnormal movement as well as coordination- decreasing ability of either clawing or walking normally and also reduction of hand control are the first signs. Initially, the change occurs rapidly, then continues gradually. Finally, muscles are weakened, rigid, and spastic with abnormal positioning and movements. Children lose their communication abilities, speaking ability, maintenance of eye contact, and other communication ways. Children lose interest in people, environments, and even toys. Children develop abnormal repetitive, and purposeless hand movements. These movements might be clapping, rubbing, tapping, squeezing, and hand wringing. Children with the syndrome have abnormal eye movements like blinking, closing an eye at a time, and intense staring. The children can develop breathing problems such as swallowing air, hyperventilation, and forceful exhalation of both saliva and air. The breathing problems take place during waking, but disturbance s as shallow breathing may occur during sleep. Other signs and symptoms include crying and irritability, cognitive disabilities, seizures, irregular heartbeat, and scoliosis.

Diagnoses

Rett syndrome diagnoses entail close and careful observation of child growth and development as well as answers from family medical history. It is considered when a child head size growth slows or even loss of skills. During diagnoses, other conditions with similar symptoms have to be evaluated and ruled out. The condition is rare, and a child has to undergo other tests to determine the causes of the symptom. The other conditions with similar symptoms are autism, cerebral palsy, problems of vision and hearing, prenatal brain damage, metabolic disorders like phenylketonuria, and other genetic disorders. The type of tests conducted depends on child signs and symptoms. The various tests are blood tests, urine tests, hearing tests, vision and eye exams, imaging (MRI and CT scans), and brain activity tests.

Bett syndrome diagnosis criteria involve primary symptoms. The symptoms are abnormalities in walking, loss of communication ability, repetitive purposeless movements, and loss of purposeful hand movements.

If, after evaluation, the doctor suspects a child has Rett syndrome, he or she confirms diagnoses by recommending a Genetic (DNA) test. A small blood sample is drawn from an arms vein. Then the blood id examined for DNA abnormalities, cause clues, and severity. The diagnoses are confirmed trough MEPC2 gene mutation testing.

Treatment

There is no cure for Rett syndrome. Its treatments are on the management of symptoms and support, which requires a multidisciplinary approach. The support is aimed at improving movements, social participation, and communication. The treatment for the symptoms is not discontinued after the children get older. Treatments are beneficial to both children and adults, and they include:

• Physical therapy (hydrotherapy)- it maintains and improves both balance and mobility. Offers weight training for scoliosis patients. Reduces back and limbs mishappen.
• Occupational therapy- maintains and improves hand usage. Trains self directs tasks like feeding and dressing. Lowers stereotypic hand movements like washing, rubbing, tapping, and clapping.
• Medication- provides calcium and mineral supplements to strengthen slow scoliosis and bones. Boosts body weight through high-fat diet and high calories. Aspiration if there accidental swallowing of food into the lungs.
• Physical assistance- adjustments of hand movements by splints and scoliosis correction through either surgery or braces.
• Speech therapy- improve social interaction and non-verbal communication.

Causes

Rett syndrome is caused by MECP2 gene mutations. MECP2 gene provides instruction for the production of MeCP2 protein essential for the normal functioning of the brain. There is an unprecise function of MeCP2 protein, but it maintains neuron synapses and normal brain functioning. It is thought that the protein regulates the activities of brain genes. MECP2 gene mutations either alters the MeCP2 protein or causes a reduction of protein production. This inhibits the normal functioning of neurons and brain cells. There are two types of gene mutations that cause Rett syndrome, which is sporadic and germline mutations.

Sporadic mutations- in about 95 percent Rett syndrome cases, the mutation is not inherited from parents. Generally, parents are genotypically normal without A MECP2 mutation. In the case of sporadic Rett syndrome, the mutated MECP2 derived form mutated male x chromosome. However, there is no knowledge as to why sperm may undergo mutation.

Germline mutations- It may be generated from phenotypically normal mothers with the germline gene mutation. The inheritance is in line with an X chromosome-linked pattern in females.

Effect of Rett syndrome on lifespan

The syndrome slowly progresses throughout a patient life. Its progress rate significantly varies from one child to another. The condition of some children with Rett syndrome might improve between the 2 to 10 years of age. During the period, a may improve some aspects such as interest in the environment, communication skills, alertness, and attention span. The majority of the children with Rett syndrome remains at this stage throughout their lives. It implies there is no more decline of either communication or motor skills. There is no knowledge of specific life expectancy, but Rent syndrome tends to shorten the human lifespan. Most people living with the condition are able to live into their 40s and 50 depending on when the symptoms started. Therefore, individuals with Rett syndrome survive, but their lifespan is shortened.

Effect of Rett syndrome on learning

An individual with Rett syndrome has several learning disabilities. The condition causes severe impairment of expressive and receptive communication, which are essential for learning. This makes it difficult to demonstrate their learning abilities. The patients lack the capability to communicate through either speech or hand and reveal their potential abilities. These children have to star under supportive care on a daily basis.

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