Rett syndrome

Resident’s Name: Chad Abby Date: 10/10/2008

Rett syndrome:
Rett syndrome (RTT) is a unique neurodevelopment disorder that is most often misdiagnosed as autism, cerebral palsy, or non-specific developmental delay. RTT is a genetic disorder of developmental arrest or failure of brain maturation. This disorder is found almost exclusively in females.

What is affected in the syndrome?
In RTT subsets of neurons and their connections (synapses) are disrupted during a very dynamic phase of brain development. This causes a slowing down or stagnation of motor skills, a loss of communication skills and purposeful use of hands and a slowing of normal rate of head growth (microcephaly). Gait disturbances are noticed and problems may include disorganized breathing patterns and seizures. As a child with RTT gets older motor problems may increase, while interaction and communication, especially with eye gaze, seizures, and irregular breathing may improve. Most individuals with RTT require maximum assistance with every aspect of daily living.

Why?
Rett syndrome is caused by a sporadic mutation in the MECP2 gene on the X chromosome. The MECP2 gene plays a role in turning off or regulating other genes. So a mutation would cause the turn off regulatory mechanism to fail allowing other genes to function abnormally.

When – in the child’s life is the diagnosis made?
The child with RTT is usually born healthy and shows an early period of apparently normal or near normal development until 6-18 months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands and slowing of the normal rate of head growth become apparent.

Factors that can influence dental care or cause the need for dental treatment?
Some medicines used to control epilepsy e.g. Phenytoin, can cause overgrowth of the gums. Plaque removal is even more important for patients who are at risk of this overgrowth; plaque can accumulate even more when gums are swollen. Be aware of the sugar content of medicines. Ask for sugar-free formulations for over-the-counter medicines. If sugared medicines must be used, try to avoid giving them last thing at night. Some drugs can cause a dry mouth, which can increase the risks of tooth decay. Tooth grinding is also a problem seen in Rett syndrome. Due to poor motor functions a provider will always be necessary to adequately clean the teeth of a child with Rett syndrome. It has been noted that Rett syndrome patients can have supernumerary teeth (extra teeth or fused teeth). These may make cleaning more difficult and they can also delay eruption of adjacent teeth. Regular visits to the dentist and good home care can prevent the need for invasive dental treatment.

Systemic or medical conditions associated with the syndrome that are critical concerns for dental work?
By age 5, your child should have an ECG performed. If normal, it should be repeated every other year. If abnormal, a cardiologist should be consulted. When treating a child with Rett syndrome a medical consult should always be performed with the cardiologist before treatment. Apraxia (dyspraxia), the inability (or reduced ability) to program the body to perform motor movements, is the most fundamental and severely handicapping aspect of RTT. It can interfere with every body movement, including eye gaze and speech, making it difficult for the girl with RTT to do what she wants to do. Rett syndrome is not a degenerative disorder, but rather is a neurodevelopmental disorder. Barring illness or complications, survival into adulthood is expected.



Information that has been recently learned?

Rett Syndrome was previously described as a neurodegenerative disorder, with very poor prognosis and little potential for learning. Scientific studies have now identified Rett Syndrome as a disorder of neurodevelopmental arrest, which begins shortly before or after birth at a critical time of brain and synapse formation.