INCIDENCE

• However, recent research has showed that the illness is probably more prevalent than was heretofore assumed to be the case.

• Rett's syndrome is thought to occur in around one in every 10 000 to 12 000 female births.

• It is currently thought to be one of the most common factors that contribute to retardation in females.

• At this time, it appears that only females are affected by the illness; there have been no male cases that have been proven.

• To this day, there have been no anomalies found in either the biochemical or physiological processes that occur during life.

• Therefore, all that matters in diagnosis is clinical evidence. International consensus has been reached about definitive criteria.

HISTORY

• In 1966, a physician named Andreas Rett from Vienna was the first person to describe this disease.

• Research into this syndrome is currently being conducted in collaboration by a number of institutions located in different parts of the world.

CAUSATION

• It is not known how the illness is passed on at this time; however, given that it only affects females, it would appear that a mutation of a gene that is found on the X chromosome may be to blame.

• It is claimed that because of this flaw, it would be physically impossible for the male embryo to develop into a live entity and continue on.

• Studies that were carried out after the individual's passing revealed, much to everyone's happy surprise, that the brain showed no signs of degenerative or storage disease.

  • On the other hand, there is a suspicion that certain parts of the brain as well as the basal ganglia might be impacted.

  • There is evidence to suggest that Rett syndrome is an underlying genetic issue that is not manifested until a later stage in a person's development.

  • This hypothesis is supported by the fact that the disorder is inherited.

  • The clinical image fits with this concept very well.

  • It is suspected that a difficulty in the way that noradrenaline and dopamine are metabolized in the body is what leads to the development of this disease.

CHARACTERISTICS

• If the pregnancy and delivery go according to plan, the child's development will fall within the parameters of what is considered normal up until the age of nine to 12 months, at which point it will stop.

  • It's possible that the baby will be flaccid, placid, and show jerky movements at this point.

  • After that, a period of regression occurs, during which the previously acquired skills are forgotten.

  • Although this stage may only last for a few weeks, it may continue for a number of months.

• In spoken language, single words are often created, and it is unusual for two or more words to be combined into a single phrase.

  • These abilities are lost during the regressive stage of the disease.

• The loss of physical motor skills will occur gradually, and it will affect both big and fine motions.

• The inability to walk smoothly and normally.

• Children that were formerly capable of feeding themselves will no longer possess this ability. Along with this loss of voluntary movement, another prominent feature of Rett's disease is the presence of involuntary hand movements.

• These movements include frequent clapping, ringing, and squeezing of the hands.

• Later on, there is a propensity for the loss of muscle to take place.

• Increased muscular tone can lead to the development of deformities in both the spine and the lower limbs.

• Some girls end up being confined to chairs, but the majority of women and girls are able to walk unassisted.

• Muscle atrophy and leading a sedentary lifestyle both contribute to the progression of scoliosis, making the condition more severe.

• All of these data hint to a disruption in the central organization of movement that occurs in the brain.

• Breathing: a common symptom seen in young women is an abnormal breathing pattern that consists of episodes of breath retention interspersed with hyperventilation.

• The involuntary movements of the hands are noticed to increase when the patient is experiencing these episodes of disrupted breathing.

• Epilepsy is another possible outcome.

• On the EEG tracing, abnormalities can be noticed, and they are particularly evident in young girls even when their breathing is normal.

• This peculiar finding is typical of those diagnosed with Rett syndrome.

• Learning disability is severe, and its symptoms typically don't change much after the age of five.

• The child is left unable to speak and with very few skills for helping themselves.

• Some communication can occur.

• Eye contact is important, and girls will participate in the conversation if you maintain it.

• Crying fits are rather common throughout the regression stage, but they often become less frequent as the child gets older.

MANAGEMENT IMPLICATIONS

• Epilepsy: if seizures are causing a lot of discomfort, it's possible that you'll need to try out a few different medications to help control them.

  • Before determining which medication is most effective, it may be necessary to try a number of options or perhaps a mixture of medications.

  • Alterations to the medication regimen may also be required after some period of time has passed.

• Learning disability: children diagnosed with Rett syndrome will need to be evaluated, and then they will need to be admitted to schools, because they have severe learning impairments.

  • Regular reevaluation is required in order to ensure that existing needs as well as emerging ones may be satisfied.

  • To forestall any further degeneration, it is imperative to engage in constructive therapy in the form of a regimented education in various life skills.

• Contractures in the joints are occasionally the result of a relative lack of motion.

• Physiotherapy might be helpful in avoiding situations like this one.

• Children look forward to and benefit much from participating in hydrotherapy sessions.

• It is important to experiment with various modes of communication.

• Children typically start to show signs of improvement in their communication skills around the age of ten.

• As a result, it is essential to ensure that all avenues of possible contact are maintained at all times.

• It is important to keep in mind that even though the girl with Rett's disease appears to have normal vision and hearing, her reaction times are typically very poor.

• Therefore, if you want to get the most out of your skills training, you're going to need some patience, some understanding, and some peace and quiet.

• It has been discovered that music therapy is effective in regulating some of the unnecessary movements of the hands, such as wringing, clapping, and other similar actions.

• In the field of child therapy, Dr. Rett has significant experience working with patients of all ages.

THE FUTURE

• It is not uncommon for children diagnosed with Rett syndrome to live into their early forties.

• There are sudden and unexplainable fatalities that can take place in middle childhood on occasion.

• Those who have Rett syndrome will never be able to lead independent lives, which is a very unfortunate reality.

• But a reasonable way of life is attainable with the right kind of supervision and the right kind of behavior modification.

• If the child is to continue living in her current setting, the family, too, will want continuous guidance and assistance.

• The fact that early development is unaffected by Rett syndrome makes it an especially agonizing condition.

• Day care facilities and temporary child care placements can be of great assistance to families.