Rett syndrome is a unique developmental disorder that is first recognized
in infancy and seen almost always in girls, but can be rarely seen in boys.
Rett syndrome has been most often misdiagnosed as autism, cerebral palsy,
or non-specific developmental delay
Rett syndrome is caused by mutations on the X chromosome on a gene called
MECP2. There are more than 200 different mutations found on the MECP2 gene. Most
of these mutations are found in eight different “hot spots.”
Rett syndrome strikes all racial and ethnic groups, and occurs worldwide
in 1 of every 10,000 to 23,000 female births.
Rett syndrome is a developmental disorder. It is not a degenerative
Rett syndrome causes problems in brain function that are responsible for
cognitive, sensory, emotional, motor and autonomic function. These can include
learning, speech, sensory sensations, mood, movement, breathing, cardiac
function, and even chewing, swallowing, and digestion.
Rett syndrome symptoms appear after an early period of apparently normal
or near normal development until six to eighteen months of life, when there is a
slowing down or stagnation of skills. A period of regression then follows when
she loses communication skills and purposeful use of her hands. Soon,
stereotyped hand movements such as handwashing, gait disturbances, and slowing
of the normal rate of head growth become apparent. Other problems may include
seizures and disorganized breathing patterns while she is awake. In the early
years, there may be a period of isolation or withdrawal when she is irritable
and cries inconsolably. Over time, motor problems may increase, but in general,
irritability lessens and eye contact and communication improve.
Rett syndrome is confirmed with a simple blood test to identify the MECP2
mutation. However, since the MECP2 mutation is also seen in other disorders, the
presence of the MECP2 mutation in itself is not enough for the diagnosis of Rett
syndrome. Diagnosis requires either the presence of the mutation (a molecular
diagnosis) or fulfillment of the diagnostic criteria (a clinical diagnosis,
based on signs and symptoms that you can observe) or both.
Rett syndrome can present with a wide range of disability ranging from
mild to severe. The course and severity of Rett syndrome is determined by the
location, type and severity of her mutation and X-inactivation. Therefore, two
girls of the same age with the same mutation can appear quite different.
Rett syndrome presents many challenges, but with love, therapy and
assistance, those with the syndrome can benefit from school and community
activities well into middle age and beyond. They experience a full range of
emotions and show their engaging personalities as they take part in social,
educational, and recreational activities at home and in the community.