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Rett syndrome

Rett syndrome (or Rett's syndrome/Rett disorder) is a progressive neurological disorder, and is also one of the leading disorders of mental retardation in females.

The symptoms of this disorder is easily confused to autism, cerebral palsy.

Etiology

Rett syndrome is a X-linked, dominant disorder, caused by a mutation in the gene encoding methyl-CpG-binding protein-2 (MECP2). The Rett gene (symbolized RTT) is found on the chromosome band Xq28 near the long end of the X chromosome. This disorder affects 1 in every 12,500 live births.

The combination of RTT gene-containing X chromosome with the Y chromosome is a lethal gene combination, resulting in spontaneous abortion. No documented cases of males with Rett disorder.

Development and Symptoms

Infants typically develops normally up to age of 6-18 months. Physioneurological development tend to plateau after this brief period of normal development, and is followed by deterioration of high brain functions. Psychomotor and cognitive abilities rapidly decline within 1-2 years of age. Symptoms that develop are autistic-like, with mental retardation, poor growth. It is, hence, easy for the misdiagnosis of Rett for autism, or cerebral palsy.

Autistic-like symptoms in Rett disorder:

* screaming fits

* panic-like attacks

* inconsolable crying

* avoids looking into other people's eyes

* lack of social/emotional reciprocity

* general lack of interest

* marked impairement of use of nonverbal behaviors to regulate social interation

* delay of linguistic development

o loss of speech

Symptoms in Rett that are also present in cerebral palsy:

* short stature

* slight to severe mental retardation

* severe dementia

* mild learning disability

* hypotonia

* gait/movement difficulties

* ataxia

* microencephalopathy - abnormally small head, lack of head growth

* some forms of spasticity

o wringling of hands

o chorea - spasmodic movements of hand or facial muscles

o dystonia

o bruxism - grinding of teeth

Symptoms may stabilize for up to a few decades before complications set in, such as:

* epilepsy/seizure

* spastic paraparesis - spasticity or paralysis of the lower limbs

Treatment & Prognosis

Depending of severity of psychomotor, cognitive impairment, 2-15% of patients may achieve a nonretarded level of cognitive and adaptive functioning through various rehabilitation methods. Marriage, success in achieving employment, independent residence can be achieved during adulthood. There is no current cure for Rett disorder.

Treatment of Rett disorder briefly includes:

* increasing communication skills

* counseling

* modifying social difficulties

* behavioral interventions

Treatment usually requires consultantions from:

* speech and language therapist

* psychologist/counselor

* neurologist/neuropsychiatrist

Common prescriptions:

* antidepressants

o SSRIs

* antipsychotics

* beta-blockers

* opioid antagonists

Mortality

Males born with Rett often die during infancy stage from severe encephalopathy.

Females can live up to 40 years or more. Abnormal lab data values on Rett disorder may show:

* EEG abnormalities from 2 years of age

* atypical glycolipids

* elevated levels of beta-endorphins and glutamate

* reduction of substance P

* decreased levels of nerve growth factors

Mortality rate among children with Rett disorder is approximately at 1.2% per year

High proportion of deaths are abrupt; due to:

* heart conduction problem - abnormally prolonged QT interval on ECG

* spontaneous brainstem dysfunction

* respiratory arrest


The information above is not intended for and should not be used as a substitute for the diagnosis and/or treatment by a licensed, qualified, health-care professional. This article is licensed under the GNU Free Documentation License. It incorporates material originating from the Wikipedia article "Rett syndrome".

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