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Rett's Disorder

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.

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 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.

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UK Support Groups

Rett UK

113 Friern Barnet Road
N11 3EU
Tel: +441582798910
Email: info@rettuk.org

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