- Diseases, Disorders & Conditions
Autism for girls: The Disturbing Facts about Rett Syndrome
Tina appeared to be a healthy toddler. She was hitting all her growth marks that were expected for a girl under five-years-old. Suddenly, her speech -- which showed marked improvements only months before -- started to regress. She was increasingly becoming hard to understand. Then, other motor functions started to fail.
The regression continued until Tina was wheelchair bound and non-verbal before she was to reach kindergarten age.
The scenario is fiction; however, it's not too far from reality. Tina had a rare form of autism known as Rett syndrome. And its effect is as disastrous -- and possibly more -- as what happened to Tina.
Of the five conditions on the autism spectrum disorder, Rett syndrome is the rarest and possibly most devastating condition. This particular disorder may strike one in 10,000 or 15,000 children; however, there appears to be one group of children it strikes: girls.
Nicknamed, female only autism, Rett syndrome is a neurological and developmental disorder that will actually reverse the development of a girl in her early years. The condition may reverse such things as speech, coordination, and intellectual development. In many cases, the girls will become totally dependent on others for the rest of their lives.
The condition is usually associated with girls; however, it can strike boys. On the other hand, this condition is fatal for boys. They will die soon after birth or diagnosis.
The condition can be divided into four stages. Stage one is known as Early Onset Phase. Stage two is Rapid Destructive Phase. Plateau Phase is stage three. Finally, Stage Four, Late Motor Deterioration Phase, often occurs later in life.
Early Onset Phase
Girls will develop normally in the early years. They will hit some of their developmental marks such as walking and talking. However, between the ages of 6 to 18 months of age, changes in the normal patterns of mental and social development begin (WebMD, 2010).
Some physical changes may appear, as well. Not always detected, a slowing of head growth may be the first sign that Rett syndrome is present in a girl. Also, loss of muscle tones may be noticed during this time.
Rapid Destructive Phase
The effects of Rett syndrome become more apparent when hand control and body coordination begin to erode. One common habit observed in girls with this condition is the loss of purposeful use of their hands such as grasping with fingers, reaching for things or touching items on purpose. Instead, the girl's hand movement will resort to wringing or rubbing her hands together.
Next, between one and four years of age, social and language skills regress. The girl may lose the ability to talk. Also, she will begin to develop extreme social anxiety and withdrawal or stay away from other people.
More physical regression will occur. She will have problems with muscle and coordination. Walking becomes awkward as she develops a jerky, stiff-legged gait. Even the act of breathing can by affected. Problems such as hyperventilation, breath holding, or apnea when awake may develop.
Also, scoliosis or curving of the spine will occur in 80 percent of girls with this condition.
This condition will affect intellectual development, as well. In many cases, the girl will not advance intellectually and will be considered mentally retarded.
Other symptoms can be associated with the onset of Rett syndrome. Seizures; constipation and gastro-esophageal re-flux; cardiac or heart problems (rhythm); problems feeding themselves, swallowing, or chewing; and disruption of sleep patterns have been reported or observed. Also, scoliosis or curving of the spine will occur in 80 percent of girls with this condition.
After a while, there will be a period in which the condition's effects on the person will reach its plateau. The effects may appear to be slowing down or leveling off.
In many cases, a girl will be in this phase for a long time. Still, depending on the severity of the last two phases, the girl may be in a position in which she will need assisted living or barely be able to function independently.
Late Motor Deterioration Phase
Often, in the teen or young adult years, the girl's motor skills may fade. The individual may become stiff or lose muscle tones. The situation can worsen to the point that the individual is immobile and unable to move without assistance.
They may live until middle age adulthood. Still, it is not known how long they can live since the identification of this condition was first made more than 20 years ago.
Like autism, there are no known or definite causes for this condition. However, girls with Rett syndrome who have been examined have been shown to have mutation of the MECP2 gene found in their X chromosomes (since girls have two X chromosomes instead of one.This may explain why girls survive this condition). It is unclear how this may be associated with the Rett syndrome; however what is known is that such a mutation is not hereditary. This is a condition that exists within the girls's DNA.
The condition can be diagnosed early through observation. It's often based on a girl's pattern of symptoms and behavior. Interaction between a doctor and parent can help determine other important details about the onset of the symptoms.
Also, genetic testing can help confirm its existence in 80 percent of girls suspected of having it. Also, severity can be predicted through this form of testing.
There are no cures, and treatment can only be given for some of the symptoms. Medication is available for seizures and surgery can help with those afflicted by scoliosis. In most cases, therapy can be the best treatment in terms of giving them the best living condition possible. Physical therapy can improve their mobility.
Speech therapy may help with any language problems (verbal or non-verbal). And, occupational therapy can help the girl perform daily activities such as bathing, dressing, or brushing their teeth independently.
Still, for girls like Tina, the only hope is that someone will assist them with daily living. And, possibly, something is found to reverse this conditions for newborns that may have been born with this condition.
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© 2017 Dean Traylor