The Rett Syndrome
- Course of illness
- Diagnostic Criteria
Rett-Syndrome is a rare illness, that almost only affects girls.
It is named after its discoverer, Professor Dr. Andreas Rett.
The Vienna, Austrian, child
psychologist, first described the newly
discovered illness in 1966.
All the affected girls show a remarkable similarity in their clinical symptoms.
are obvious signs of autistic tendencies, loss of speech, seizures, stereotyped
hand movements in the form of washing and wringing, hyperventilation and a
protective response through balancing problems characterised as unbalanced gait.
has been discovered, in the meantime, that the Rett-Syndrom strikes more
frequently than first believed.
Around 1 out of every 10,000 new-born girls are stricken with the Rett-Syndrom illness. But, more often than not, the Rett-girls are not diagnosed with the illness.
number of doctors who are unaware of the illness is unfortunately very high.
What are the stages of Rett-Syndrome?
illness takes it’s course in different stages.
First of all, most unnoticed extensive developments come to a stop and is followed be
a loss of already developed skills and a disinterest in her environment.
This is the most difficult phase for the parents because she looses her intellectual skills
and it becomes very difficult to make emotional contact with her.
the following years, the condition stabilises.
Rett-girls are then socially responsive and make small advances in development.
They will remain, however, mentally and physically handicapped for the rest of their lives.
Let it be known, that the course of the illness may be very different from case to case.
To include the learning abilities.
comes normal and at the normal time, the life expectancy is not essentially
Diagnostic Criteria (over Symptoms)
Different criteria for the diagnosis of the illness are necessary:
normal pregnancy and birth
normal development during the first 6, 12 or 18 months
size at birth, reduction of the growth between
1st and 4th year of life
Verlust sozialer Kontaktfähigkeit, Kommunikationsfaehigkeit, Stoerung der Bewegungskoordination
Loss of acquired meaningful hand functions between 1. and 4. year of life
Hand stereotype movements: washing, kneading, picking movements
in the walk and movement of the trunk area
Rett-Syndrome is an illness caused genetically!
The responsible gene is called MECP2.
At most of the girls with Rett-Syndrome, small changes are found in this gene.
The MECP2 gene
is responsible for the switching of many other genes.
Why by the damage to the MECP2 gene, the Rett-Syndrome is caused,
is still unknown.
In cases, where
the diagnostic criteria are applying, a gene-test can be done,
to analyze the MECP2-gene.
If a change is found, the diagnosis is sure.
If no change on
the gene is found, nethertheless a Rett-Syndrome is possible.
Other illnesses then should be excluded, however.
The MECP2- gene
is based on the X-Chromosome. It can be from the father or from
the mother, both is possible.
However, if one examines the genes
of the father and the mother, in 99.5% of the
cases, no mutation is found.
The mutations have arisen newly at the formation of the eggcell or the spermia.