|Rett Syndrome Clinic|
Rett Syndrome (RS) is a neurological disorder seen almost exclusively in females. The prevalence of RS in females is approximately one in every 10,000-23,000 individuals and is found in all racial and ethnic groups worldwide. It is known that RS can occur in males but is extremely rare. Recurrence in families is also extremely rare. In these families, males may have a very different pattern, including miscarriage, stillbirth or early death due to fatal encephalopathy.
RS has its clinical onset in most females between 6-18 months of age. Development to that time appears normal. This is followed by a period of stagnation or regression during which the child begins losing communication skills and purposeful use of the hands. Afterwards, stereotypical hand movements (such as hand wringing or knitting motions), gait disturbances, and a slowed rate of head growth may be observed.
In 1999, a decade-long search for the genetic basis for RS succeeded in identifying mutations in the MECP2 gene in girls fulfilling the criteria for RS. This discovery allows confirmation of clinical diagnoses and the development of genotype-phenotype correlations. We are now examining the molecular genetics of children who do not meet all diagnostic criteria for RS, but who are near the border zones of clinical involvement. At the present time, more than 80% of females fulfilling the criteria for RS have mutations in MECP2. The remainder either has mutations in as yet unexplored regions of MECP2 or is explained by alternative genes.
Predicting the severity of RS for an individual is difficult because more than 200 mutations in the MECP2 gene have been observed. The range of these mutations result in varying degrees of neurological and physical complications and may also lead to misdiagnosis by health professionals who may not be familiar with RS. It is often misdiagnosed as autism, cerebral palsy or other forms of developmental delay. Correct diagnosis is essential to receiving quality treatment. It is strongly suggested to parents that a diagnosis should be obtained through a clinical evaluation using agreed upon clinical criteria and clinical severity scales.
Most researchers now agree that RS is a developmental disorder rather than a progressive, degenerative disorder as once thought. Survival into adulthood is now expected barring other illnesses or serious physical complications. Girls and women with RS can be expected to demonstrate a full range of emotions and enjoy satisfying social, recreational, and educational experiences at home and in the community.
UAB Rett Syndrome Clinic Team:
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