Physical Symptoms of Rett Syndrome

Many of the symptoms of Rett Syndrome can simply be seen by just looking at a child who has Rett Syndrome. The child will have a smaller than usual head, which is caused by the slowing or stopping of brain development during pregnancy. Also the child will have spastic hand movements which should not happen while the child is asleep but will happen while she is awake. Also impared language development is a symptom of Retts. The child may not develop language use as fast as other children, the child might not even be able to speak at all. This all happens in the early development stages of children (between the ages of 1-4 years). In later stages the child will have a loss of all speaking ability. She will lose control of her hand movements and will not be able to use her hands at all. She will lose most all of her motor skills. Also during this time she will be prone to seizures. She may actually improve in speech ability and her attention span may increase later in this stage. Children with Rett will be in this stage for most of their lives. Eventually they will progress to a stage when it is very hard to walk or even stand. Girls may develop scoliosis during this stage. None of the other symptoms deterioriate during this stage, although focus may improve.

How is the disease diagnosed

Doctors can diagnose Rett Syndrome by observing signs and symptoms during the child's early growth. They can also conduct tests of the childs physical and neurological status. Some variants of the disorder are found during testing and are not classified as normal Retts Syndrome. Out of all cases diagnosed about 15% are classified as variants. Some symptoms are not included in the diagnoses of Retts Syndrome, but may appear in children who have it. Some children may have symptoms that relate to Retts Syndrome, but it may be something else entirely. Doctors are able to successfully diagnose people who have the condition by observing them and looking for many different abnormalities such as shaking or spastic hand movements, smaller than usual head size, impaired expressive language, and many more factors.

What are the chances of a person with Rett Syndrome passing it on to their children

The chances of this occurring are very slim. Parents don't often pass this on to their children. It does happen though, there have been a few recorded cases of parents with Rett Syndrome passing it along to their children. Although unlikley it is possible to pass the disorder from parent to child.

How prevalent is the disease in the population?

Many females are affected by this disorder. About one in every 10,000 to 15,000 females born are affected. There are not very many males who have the disorder and still live. It is very rare but a male can still live on with the disease. This doesn't happen very often, but it does happen.

What are the possible genotypes of the parents

Rett Syndrome is not usually inherited. It is more likley to be caused by a mutation on the twenty third pair of chromosomes. The parents can be completly normal and their child could still have Rett Syndrome.

How does a person inherit Rett Syndrome

Rett syndrome is a genetic disorder. Most cases of Rett Syndrome occur in people with no history of this disorder in their family.This mutation is located on the twenty third chromosomes, which are the sex chromosomes. Females can use their second x chromosome instead of the affected one which is why females are less likley to get genetic diseases. This disease, however, has only been seen to affect females as males will most likley die before birth. Rett Syndrome is unlikley to be passed on from parent to child. It is more likley that there will be a random mutation. The parents can pass it on to their child, but this is extremly rare and doesn't happen that often. So any female has a chance to get Rett Syndrome.

Genetic Counselors

What is a Genetic Counselor

Genetic Counselors are specialized health professionals. Their main job is to help families who have children with genetic defects. They provide information regarding the nature of the defect such as how it is contracted or what it does to the body. They investigate the family and see where this started and who has it.



Genetic Counselor education.

Genetic Counselors must have a Masters Degree from one of the many Graduate Programs. Genetic Counselors must study subjects such as psychosocial theory, ethics and counseling. They also must participate in clinical training. They can only become certified when the clinical training has been doccumented and completed.



Job information

Genetic Counselors can work in many different areas. They can work directly with the families by giving information regarding the disease to the family. They can also work in the laboratory to refer doctors to patients and vice versa, or they can work in the area dealing with research. They will be researching information on the families and the nature of the disease.