An inherited disorder that affects only females, the syndrome causes
mental retardation and developmental
degeneration. The following suggest normal early development:
Prenatal and perinatal development appear normal.
Psychomotor
development appears normal at least until month 6 old.
Head circumference
is normal at birth.
After this period of normal development, all of:
Head growth slows abnormally between 5 and 48 months.
Between
5 and 30 months, the child loses already acquired purposeful hand movements
and develops stereotyped hand movements such as handwashing or handwringing.
Early in
the course, the child loses interest in the social environment. However,
social interaction often develops later.
Gait or
movements of trunk are poorly coordinated.
Severe psychomotor
retardation and impairment of expressive and receptive language.
Associated
Features:
Rett's
Disorder is typically associated with Severe or Profound Mental
Retardation.
Differential Diagnosis:
Some disorders
have similar or even the same symptoms. The clinician, therefore,
in his/her diagnostic attempt, has to differentiate against the following
disorders which need to be ruled out to establish a precise diagnosis.
Cause:
Rett's
Syndrome a neurological disorder. During development, a multitude of
genes are "expressed" (translated into proteins) in different
tissues of the body at different times and at different levels. The
gene for Rett's Syndrome, MECP2, encodes a protein (MeCP2) involved
in one of the many biochemical switches needed to control the complex
expression patterns of other genes by telling them when to turn off.
In Rett's Syndrome this malfunction means that certain genes are turned
"on" or "off" inappropriately.
Treatment:
Treatment
is geared toward symptom relief and therefore physiotherapy may be undertaken
which is aimed at muscular dysfunction and medication used to control
seizures. Behavior therapy is used to teach self coping mechanisms.
