New research finds:
- The risk for men with the
gene in the family is much more severe, because
boys have only one X chromosome (and one Y chromosome) they lack a
back-up copy that could compensate for the defective one, and they have no
protection from the harmful effects of the disorder. Boys with such a
defect frequently do not show clinical features of Rett syndrome but experience
severe problems when they are first born and die shortly after birth. A
very small number of boys may have a different mutation in the MECP2
gene or a sporadic mutation after conception that can cause some degree of
intellectual disability and developmental problems.
- Although Rett syndrome is a
genetic disorder, less than 1 percent of recorded cases are inherited or passed
from one generation to the next. Most cases are spontaneous, which means
the mutation occurs randomly. However, in some families of individuals
affected by Rett syndrome, there are other female family members who have a
mutation of their MECP2 gene but do not show clinical symptoms.
These females are known as “asymptomatic female carriers.”
- There is no cure for Rett
syndrome. Treatment for the disorder is symptomatic, focusing on the management
of symptoms, and supportive. Medication
may be needed for breathing irregularities and motor difficulties, and
antiepileptic drugs may be used to control seizures. Occupational therapy, physiotherapy, and hydrotherapy
may prolong mobility. Some children may require special equipment and aids such
as braces to arrest scoliosis, splints to modify hand movements, and
nutritional programs to help them maintain adequate weight. Special academic,
social, vocational, and support services may be required in some cases.
- Improvements in the
diagnosis of Rett Syndrome have, as yet, no parallels in treatment. Medicine
can offer only supportive measures: feeding tubes, orthopedic braces and
surgeries, and trials of standard seizure medications which are often
ineffective in Rett Syndrome. Many girls live into adulthood, requiring total,
24-hour-a-day care.