What is Rett syndrome?

Rett Syndrome (RTT) is a developmental disorder that affects 1 out of 10,000 children worldwide. Generally found in girls, symptoms begin in infancy or early childhood. Often misdiagnosed as Autism, Cerebral Palsy or Angleman's Syndrome, RTT is linked to a mutation on the MECP2 gene on the X chromosome. First described in 1966 by Austrian physician, Andreas Rett, RTT is a challenging syndrome with many difficult symptoms.

Rett's disorder, also called Rett's syndrome, is a brain disorder characterized by normal early development (until sometime between five months and four years) that is followed by a loss of physical and mental growth. Rett's is caused by gene mutation and usually only affects girls; most cases are not passed from one generation to the next, but occur randomly. Often the first noticeable sign of Rett's disorder is slowed head growth. Loss of hand coordination and movement follows, replaced by repetitive (stereotypical) hand wringing. Language development and social skills suffer around two to three years of age. Eventually, physical problems progress so that the child walks with difficulty, often stiffly with jerking. In addition, breathing may become labored and produce a sighing sound. These problems can cause severe disability and sometimes death. Rett's disorder is one of a group of disorders called pervasive developmental disorders (PDD) that includes Asperger's syndrome and autism.

Rett syndrome is known to be genetic and primarily affects girls. Children with Rett generally have impaired speech, language, and motor skills, particularly with the hands and, in some cases, with walking and balance. They may also have mild to severe learning disabilities.

From The Smart Parent's Guide: Getting Your Kids Through Checkups, Illnesses, and Accidents by Jennifer Trachtenberg.

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Rett syndrome (RTT) is a rare brain disorder that occurs almost exclusively in females. Most experts believe Rett syndrome is a neurodevelopmental disorder, rather than a condition that worsens over time.

Female infants with Rett syndrome appear to develop normally at first, but once they reach 6-18 months of age, they stop developing and lose most of their previously developed skills, such as speaking or making purposeful movements with their hands. Eventually, these patients grow up to become intellectually disabled (formerly called mentally retarded). If Rett syndrome occurs in male fetuses, it leads to miscarriage, stillbirth, or death during infancy.

Rett syndrome is caused by a mutated gene that randomly occurs for unknown reasons. Researchers estimate that Rett syndrome occurs in 1 out of 10,000-23,000 births each year worldwide.

Because Rett syndrome affects the way the brain grows and develops, the condition is classified as a pervasive development disorder (PDD).

There is currently no cure for Rett syndrome. In females, the disease typically stops progressing for many years when the child is 2-10 years of age. Most females live to be 40-50 years of age. Males, on the other hand, often die before birth. Males that are born alive usually die during infancy. Treatment for Rett syndrome focuses on improving the patient's functional and communication skills. Patients require lifelong care and support and help with daily tasks, such as eating, walking, and toileting.

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