Rett Syndrome

Rett syndrome refers to a neuro-developmental disorder that affects almost females exclusively and it typically has a degenerative course. This disorder is related to several MECP2 mutations that code for the methyl-CpG binding protein. Although this disorder is rare, it is a severe condition of the brain. Usually, this disorder is discovered during the first two years of the life of a person. A child that has this disorder can have an overwhelming experience. It is a genetic condition that affects 1 in between 10,000 to 15,000 girls. It is mostly diagnosed between 6 and 18 months when changes in normal social and mental development patterns start. In most children with this disorder, a particular gene in the X chromosome has a mutation. It is yet to be known clearly how this mutation causes the disorder or what exactly this gene does. A common belief is that a single gene can influence the other genes that are involved in normal development.

What are the major symptoms of Rett syndrome?

This disorder progresses via 4 stages with each having its own symptoms.

They are as follows:

Stage 1: Developmental arrest

This occurs between 6 and 18 months. Symptoms in this stage include gross delay in motor development, disinterest in playing, eye contact loss, hand wringing, calmness, unusual placidity, nonspecific and vague symptoms and breath-holding spells.

Stage II: Rapid regression or deterioration

This is the stage of a patient at the age of between 1 and 4 years. Symptoms of this disorder at this stage include stereotypic movements of the hands while awake, autistic-like behavior, breathing irregularities, vacant spells which resemble seizures, seizures, sleep disorders, irritability and intermittent strabismus.

Stage III: Pseudo-stationary

At this stage, the patient indicates some improvements in their behavior including communication skills and hand use, eye contact and communication intent’s attempts. However, hand stereotypes and mental impairment continues. Other symptoms include brixism, involuntary movements of the tongue, increasing rigidity, seizures and motor dysfunction, breathing irregularities, and poor weight among others.

Stage IV: Late motor deterioration

This stage occurs from the age of 10 years and above. At this stage, there is no more deterioration of communication skills, cognitive skills or even hand skills. Motor problems increase. Walking ceases and seizure frequency can be reduced.

How is Rett syndrome diagnosed and treated?

This disorder is diagnosed on the basis of the symptoms that a child depicts. A genetic-based blood test is done to find out whether the condition is caused by genetic mutation. The disorder is confirmed by the presence of a change in the gene. There is no cure for this disorder and managing its symptoms can also be very difficult. However, a child can get help from different healthcare providers.

Some aids and treatments for patients with this disorder include:

• Anti-epileptic medicine that is used in controlling seizures
• Physiotherapy, back brace, posture changes and spinal surgery are possible treatments for preventing further curving of the spine.
• High-calorie diet can be administered with a feeding tube as well as other aids where necessary.
• Occupational therapy can be used to aid in the development of necessary skills for feeding, dressing and performing other activities on daily basis.
• Ankle-foot orthosis can be used to help the patient walk independently.
• Hand splint can be used to help the patient in controlling hand movements in severe cases.
• Pacemaker or beta blocker medication can be used to control the heart rhythm of the patient.
• Eye gaze technology or picture boards as well as other visual aid materials can be used in facilitating the communication of the patient.

There are reports that therapeutic swimming, horse riding, music therapy and hydrotherapy have also been beneficial in the management of the symptoms of this disorder.

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Sources

http://emedicine.medscape.com/article/916377-overview

http://www.webmd.com/brain/autism/rett-syndrome

http://www.nhs.uk/Conditions/Rett-syndrome/Pages/Introduction.aspx