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Learning that your child has a disorder of the nervous system can cause you a great deal of worry, especially when it involves different aspects of your child's development. We understand, and if your child has Rett syndrome, our orthopedic specialists will be there for all musculoskeletal care, and work closely with your child's medical team as well as your family to provide the best possible outcome.
Rett syndrome (RTT) is a disorder of the nervous system. This condition leads to developmental problems in children. It mostly affects language skills and hand use. There are several different types of RTT:
RTT is classified as atypical if:
RTT occurs almost always in girls. It may be diagnosed as autism or cerebral palsy.
Most RTT cases are due to a problem in the gene called MECP2. This gene is on the X chromosome. Females have 2 X chromosomes. Even when one chromosome has this defect, the other X chromosome is normal enough for the child to survive.
Males born with this defective gene do not have a second X chromosome to make up for the problem. Therefore, the defect usually results in miscarriage, stillbirth, or very early death.
Symptoms may include:
NOTE: Problems with breathing patterns may be the most upsetting and difficult symptom for parents to watch. Why they happen and what to do about them is not well understood. Most experts recommend that parents remain calm through an episode of irregular breathing like breath holding. It may help to remind yourself that normal breathing always returns and that your child will become used to the abnormal breathing pattern.
Genetic testing may be done to look for the gene defect. But, since the defect is not identified in everyone with the disease, the diagnosis of RTT is based on symptoms.
Help with feeding and diapering
Supplemental feedings can help with slowed growth. A feeding tube may be needed if the child breathes in (aspirates) food. A diet high in calories and fat combined with feeding tubes can help increase weight and height. Weight gain may improve alertness and social interaction.
Medicines may be used to treat seizures. Supplements may be tried for constipation, alertness, or rigid muscles.
Stem cell therapy, alone or in combination with gene therapy, is another hopeful treatment.
If your child has been diagnosed, you probably have lots of questions. We can help. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-4405.