Rett syndrome is a neurodevelopmental disorder that affects girls almost exclusively.
Dr. Andreas Rett, an Austrian physician, first identified Retts and described it in a journal article in 1966. A pediatric neurologist, clinical geneticist, or developmental pediatrician should be consulted to confirm the clinical diagnosis of Rett syndrome.
It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
Rett Syndrome Stages
Scientists generally describe four stages of Rett Syndrome:
- Stage 1 early onset typically begins between 6 and 18 months of age. Here the symptoms are often overlooked because they start off as a subtle regression of motor and cognitive skills.
- Stage 2 is also referred to as the rapid destructive stage which usually begins between ages 1 to 4 and may last for weeks or months.
- Stage 3 or the plateau or pseudo-stationary stage, begins between ages 2 and 10 and can last for years. Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech, However, symptoms may appear to stabilise during this stage.
- Stage 4, or the late motor deterioration stage, can last for years or decades. Prominent features include reduced mobility, the curvature of the spine (scoliosis) and muscle weakness, rigidity, spasticity, and increased muscle tone with abnormal posturing of an arm, leg, or top part of the body. Girls who were previously able to walk may stop walking. Cognition, communication, or hand skills generally do not decline in stage IV. Repetitive hand movements may decrease and eye gaze usually improves.
Pre-natal testing
Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide. Prenatal testing is available for families with an affected daughter who has an identified MECP2 mutation.
The disorder occurs spontaneously in most affected individuals, however, the risk of a family having a second child with the disorder is less than 1 percent. Due to the genetic make-up of boys who only have one x chromosome and one Y chromosome, without a backup copy of the X Chromosome, they have no protection from the effects of the disorder and die shortly after birth.
Presently, there is no cure for Retts, only the management of symptoms through multi-disciplinary care.
Visit the Rett Syndrome Association of Australia to learn more about support initiatives and research.