retts syndrome

rett syndrome, rets syndrome, reiter s syndrome, rhetts syndrome, retts

Rett Syndrome (RTT) is a debilitating neurological disorder diagnosed almost exclusively in females. Children with RTT appear to develop normally until 6 to 18 months of age when they enter a period of regression, losing speech and motor skills. Most develop repetitive hand movements, irregular breathing patterns, seizures and extreme motor control problems. RTT leaves its victims profoundly disabled, requiring maximum assistance with every aspect of daily living. There is no cure.
RTT was originally described by Dr. Andreas Rett of Austria in 1966, but was relatively unknown until the mid 1980's when an article describing the syndrome was published in a well-known scientific journal.
Historically, RTT was believed to affect 1 in 10,000 females. Many scientists now believe that the prevalence of RTT is in fact much higher. We suspect there are thousands of girls and women undiagnosed or misdiagnosed (eg. autism, cerebral palsy). Although rare, it is possible for boys to have RTT.
RTT is caused by mutations in the gene MECP2, located on the X chromosome. RTT knows no geographic, racial or social boundaries. Fewer then 1% of Rett cases are familial. Any expectant parent is at risk for having a child with RTT. Over a hundred separate mutations in MECP2 have been identified to date. Drawing correlations between specific mutations and symptoms has proven difficult.

Although some individuals with RTT die at a young age, the majority live into adulthood.

Cause
The leading cause of RTT is sporadic mutations in a gene called MECP2, located on the X chromosome. Studies have shown that more then 95% of mutations originate from a mutated sperm.
The MECP2 gene makes a protein, also called MeCP2, believed to play a pivotal role in silencing other genes. Scientists suspect that the inability to shut down specific genes causes the cascade of symptoms seen in RTT.
How mutations in MeCP2 lead to RTT is not well understood but is the focus of intense research. Experiments suggest that MeCP2 is not required for early brain development but rather is essential for the maintenance of maturing brain cells (neurons).


Symptoms and Diagnosis
The discovery of the MECP2 gene has made possible the development of a blood test for RTT. The diagnosis of the disorder, however, is still based on symptoms and clinical history.
At this time, approximately 85% of all patients diagnosed with RTT also test positive for an MECP2 mutation. This does not mean that the remaining 15% do not have RTT. Although testing positive for a mutation confirms the diagnosis it is not required. It is possible that mutations exist in an area of MECP2 that has not yet been sequenced, or perhaps other genes contribute to RTT.
The criteria below are used for making a clinical diagnosis of RTT. Please keep in mind that RTT is a spectrum disorder. Not all the symptoms are seen in every patient and the severity of a symptom may vary widely from patient to patient.

Diagnostic Criteria
* Period of apparent normal development until 6-18 months (some girls have an earlier onset of RTT symptoms and therefore have no normal period of development).
* Normal head circumference at birth followed by slowing of the rate of head growth (there is a subset of girls whose rate of head growth does not decelerate).
* Loss of verbal language.
* Purposeful hand use is replaced by stereotypical hand movements (these can include a multitude of hand movements, some girls have movements unique to them or none at all).
* If able to walk the gait is usually wide-based and stiff legged.
* Shakiness of torso and/or limbs, especially when upset.


Supportive Criteria

* Breathing pattern irregularities which include hyperventilation, breath holding, apnea, air swallowing
* EEG abnormalities
* Seizures
* Scoliosis
* Teeth grinding
* Gastrointestinal issues which may include reflux, constipation, poor nutrient absorption
* Growth retardation and decreased body fat and muscle mass
* Biting/Chewing/Swallowing difficulties
* Poor circulation to legs and feet
* Decreased mobility with age
* Muscle rigidity/spasticity/joint contractures
* Small feet
* Abnormal sleep patterns
* Irritability and agitation