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.
