Rett syndrome

Contents

Introduction

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
- 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
- wringling of hands
- chorea - spasmodic movements of hand or facial muscles
- dystonia
- 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: