Rett Syndrome is a debilitating neurological disorder diagnosed almost exclusively in females. Children with Rett Syndrome appear to develop normally until 6 to 18 months of age when they enter a period of regression, losing speech and motor skills. The condition was originally described by Dr. Andreas Rett of Austria in 1966, but was relatively unknown until the mid1980s when an article about the syndrome was published in a well-known scientific journal. Earlier, Rett Syndrome was believed to affect 1 in 10,000 females. Now many scientists feel that it has a higher prevalence. It is possible that affected girls and women have been misdiagnosed as having autism or cerebral palsy.
Although it is rare, it is possible for boys to have RettSyndrome.
Girls with Rett Syndrome generally manifest the symptoms given below :
• Period of normal growth up to 18 months
• Normal head circumference at birth followed by slowing of rate of head growth, though there are some girls whose head growth does not decelerate
• Loss of verbal language
• Purposeful hand movement if replaced by stereotypical hand movements (these include a variety of hand movements)
• Wide-based stiff legged gait
• Shaking of torso or limbs especially when upset
• Decreased mobility with age
• Spasticity/joint contracture, small feet
• Abnormal sleep patterns, irritability and agitation
As they become older, girls with Rett Syndrome show more features of cerebral palsy and a reduction in autistic like behaviours.
The diagnosis of Rett Syndrome is based on a girl's pattern of symptoms and behaviour. The diagnosis can be made on these observations alone. Discussions between a doctor and a girl's parents will help determine important details, such as when symptoms started.
Genetic testing can help confirm the diagnosis in 80% of girls with suspected Rett syndrome. It's possible that genetic testing can help predict severity.
As children with Rett syndrome have autistic features, they require the same structured teaching based on the principles of ABA. Along with classroom instructions they should receive occupational therapy and physiotherapy when needed. There is no cure for Rett Syndrome. The girls generally need constant care and attention. The focus of intervention is on development of functional and self-care skills. It is recommended that the children are exposed to diverse and interactive social situations and that adaptive communication options be introduced early. Some children may require special nutritional programs to maintain adequate weight.