Rett-Syndrome: Causes, Symptoms And Treatment

Rett syndrome refers to the neuro- developmental disorder of grey matter which is present in the brain. People suffering from Rett syndrome have no verbal skills and in most cases the patient cannot walk. Causes

The most common cause is mutation of the gene MECP2 which is found on the X-chromosome.

The Rett-syndrome can be inherited from normal mothers. Norepinephrine levels in the brain are lower in patients suffering from this syndrome. There are some other causes that include midbrain dopaminergic disturbances. The causes can be broadly categorized into sporadic mutations, germline mutations, pontine noradrenergic deficits and midbrain dopaminergic disturbances.

Symptoms

This syndrome is more common in girls but in rare cases, it has been observed in boys too. The most prominent symptom is slowing head growth and continuous loss of muscle. Over a period of time, it can be observed that the patient (mostly a child) has considerably lost the use of hands.

Some other possible symptoms that are noticed in a Rett-syndrome patient are crying inconsolably, where the reason can be known or unknown, screaming endlessly, holding breath, losing speech with sensory problems, lack of social and emotional behavior or swallowing air, hyperventilation and use of nonverbal behavior to maintain social interactions.

A person suffering from this disease faces difficulty in movement, ataxia with a few forms of spasticity, dystonia, microcephay (in some cases of extremely small heads), loss of ability to walk, rise in gastrointestinal problems (which occurs in more than 80% of the patients) and chroe i.e. spasmodic movements of hand muscles.

There are enough signs and symptoms available to catch Rett-syndrome at an early stage and hence, it is recommended that one must get a full checkup of their young ones before the age of 6 months. These are a few ways to improve the situation as far as it can be helped.

Treatment

There is only hope of cure in context of rett-syndrome as studies are being conducted to restore the MECP2 function, other than that there is no possible solution till date. One can manage only the symptoms which can be seen as treatment in this case. The treatment of Rett-syndrome includes counseling of parents, modification of social behavior, aids to sleep, efforts to increase the patient's ability to communicate, SSRIs i.e. selective serotonin reuptake inhibitors. In case of self-destructive behavior, it is mandatory to provide anti-psychotics. There are several therapies available which play an important role in the treatment of the syndrome such as speech, physical and occupational therapy.

Among other treatment methods, self-care is also important in which care-takers are given practice in guided feeding. Involuntary movement of hands makes it difficult for the patient to perform certain tasks and hence, sometimes strategies like varying the pace of the work can be tried out.

As with every other child, it is mandatory for the children suffering from Rett-syndrome to communicate and enjoy leisure activities. Playing is not only considered a leisure activity but it also increases productivity. Some therapeutic activities are also included as they are enjoyable for the patients and act as therapy to a considerable extent.

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