What is Rett Syndrome?
This is an uncommon disorder genetically affecting brain development. It arises almost entirely in females.
At first most infants with this syndrome will develop normally, but the symptoms begin to emerge after six months. Those with Rett syndrome over time have increased problems with coordination, communication as well as movement that can affect the ability to communicate, walk or usage of their hands.
There is no cure of this syndrome but possible management techniques are being researched. Current treatment centers on improving communication and movement as well as providing support and care for those affected.
Rett Syndrome Symptoms
Infants with this syndrome are usually born following a typical pregnancy and delivery. The majority behave and grow ordinarily for the first 6 months. It is at this time that symptoms and signs begin to appear. The more definite changes usually happen at twelve to eighteen months and happen over a time period of weeks or even months.
Symptoms for Rett syndrome include:
Growth that is slow
Growth of the brain slows down after birth. Head size that is smaller than what is considered normal is typically the first symptom of this syndrome. It becomes very obvious after six months. As the child gets older, late growth of other areas of the body becomes apparent.
Loss of usual coordination and movement
Substantial loss of motor skills normally starts between twelve to eighteen months old. First there will be a decline in the ability to walk or crawl normally as well as decrease of hand control. To start with, the loss of their abilities happens rapidly and then will become slower.
Loss of thinking and communicating abilities
After a year to a year and one half, those with this syndrome normally start to drop the capacity to communicate or speak in added ways. They then become apathetic in toys, other people as well as their surroundings. Often these changes are rapid. Most of these children will eventually recoup eye contact as well as developing communication skills that are non-verbal.
Hand movements that are abnormal
As this disorder progresses, children naturally cultivate their own specific hand patterns, that include wringing of hands, clapping, squeezing, rubbing or tapping.
Unusual movements of the eye
There is a tendency to have eye movements that are unusual, for instance closing one eye at a time or blinking.
Problems breathing
These include hyperventilation, apnea or breath holding, and strong exhalation of saliva or air. These problems normally occur while awake but not while sleeping.
Irritability
Those with Rett syndrome increasingly become irritable as well as agitated as they grow older. Periods of screaming or crying can suddenly begin, lasting for hours but normally these children become quieter between two and ten years of age.
Atypical behaviors
These include strange facial expressions as well as long periods of screaming, laughter, grasping of clothing or hair, as well as hand licking.
Scoliosis or atypical curvature of the spine
This is common and normally starts between eight and eleven years old.
Irregular heartbeat or arrhythmia
This is a problem that can be life-threatening for those with Rett syndrome.
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Constipation
Common condition for those with Rett syndrome.
Stages
Rett syndrome is normally separated into 4 stages.
Stage I
Symptoms and signs are elusive as well as easily unnoticeable during this stage that begins at six to eighteen months old. Those in this stage will show not much eye connection and will begin to lose awareness of toys. Delays in crawling or sitting may occur.
Stage II
Between one to four years of age, those with Rett syndrome begin to lose the capacity to use their hands as well as to speak. Purposeless hand movements that are repetitive begin. In some they will start to hyperventilate or hold their breath and might cry or scream for no reason. There is difficulty moving by themselves.
Stage III
This is a plateau that starts between two and ten years old and may last for years. Behavior can improve. Those at this stage are less irritable, and cry less. Many individuals with this syndrome continue in this stage for the remainder of their lives.
Stage IV
This last stage is noticeable because of reduced mobility, weakness of muscle as well as scoliosis. Hand skills, understanding and communication skills normally do not drop additional during this stage. Hand movements that are repetitive can decrease.
Rett Syndrome Causes
This syndrome is a disorder that is genetic but is inherited in only a small number of cases. Rather the genetic transmutation causing this disorder happens spontaneously and randomly – usually when the sperm is made as well as infrequently after the egg and sperm combine at conception.
Difficult complications of this syndrome consist of:
- Motor dysfunction for instance problems walking as well as hand movements that are irregular.
- Strange patterns of sleep – for instance falling asleep in daytime or awakening during the night.
- Seizures
- Problems eating that lead to nutrition that is poor as well as growth that is delayed
- Constipation that is chronic and severe
- Cardiac arrhythmias that is life-threatening
- Fragile and thin bones
- Scoliosis
- Life span that is short – they do not live longer due to heart disorders and additional health problems.
Rett Syndrome Treatment
The treatment of this syndrome needs to be with a team approach, which includes physical, speech and occupational therapy, regular medical care as well as social, academic and job training facilities. This needed support does not stop as the child gets older – it is necessary thru out life.
Treatments which help both adults and children with this syndrome include:
Medications
Drugs do not offer a cure but they aid in controlling some of the symptoms for instance muscle stiffness as well as seizures.
Speech and physical therapy
Physical therapy along with using casts or braces may aid those who have severe scoliosis and helps to maintain skills in walking, flexibility as well as balance. Occupational therapy can also improve use of the hands in a purposeful manner. When repetitive hand as well as arm movements is a problem, splints that restrict wrist or elbow motion can be supportive. With speech therapy the child’s life can be improved by teaching non-verbal communication methods.
Support nutritionally
Nutrition that is proper is quite important for growth that is normal as well as improved social and mental abilities. Most of those with this syndrome need a high-calorie, high-fat diet. There are others who might need to be fed with a nasogastric tube in the nose or gastrostomy directly in the stomach.
Rett Syndrome Life Expectancy
In spite of health problems, most individuals with this syndrome live into middle age and even longer. Due to the fact that this syndrome is very rare, there is little known about prognosis long term or life expectancy. It is estimated that females may live to the forties or fifties with this condition but not a sufficient number of women have been studied to make estimates that are reliable about the life expectancy going beyond the age of forty.
Rett Syndrome Pictures
