Rett syndrome

Rett syndrome is a genetic neurodevelopmental disease caused by a mutation of the MECP2 gene on the X chromosome. It occurs almost exclusively in girls; occurrence in boys is very rare. Boys with a mutation in this gene were thought to die before birth. New studies show that these boys may survive and then develop more severe symptoms earlier than girls.

The phenotype of this classic form of Rett syndrome partially overlaps with other diagnoses (general name "Rett-like phenotype"). In the past, these were described directly as variants of Rett syndrome, but today they are already referred to as separate diagnoses. These are, for example, neurodevelopmental diseases caused by mutations in the CDKL5 or FOXG1 genes (CDKL5 deficiency or FOXG1 syndrome).

Symptoms of Rett Syndrome

 * psychomotor development regression - between 6 and 18 months of age,
 * dyspraxia (inability to use the hands purposefully), stereotypical hand movements - washing, clapping, squeezing, mouthing, finger manipulation,
 * apraxia,
 * unsteady walk - clumsy, puppet-like; loss of ability to walk,
 * intelligence disorders,
 * communication dysfunction, regression of speech development, up to complete loss of speech,
 * respiratory dysfunction - as a result of insufficient development of the respiratory center,
 * hypotonia,
 * gastrointestinal problems - problems with chewing, swallowing, reflux, constipation,
 * bruxism (teeth grinding), strabismus,
 * total growth retardation,
 * epileptic seizures,
 * emotional symptoms - restlessness, dissatisfaction, frequent mood swings, sudden crying,
 * sleep disorders.

Stages of Rett Syndrome
The disease is very individual for each of the girls. The syndrome occurs in varying degrees of severity, which are determined by the type of mutation, phenotype, and other factors.

Diagnosing Rett Syndrome
First, a clinical diagnosis is established, followed by a genetic examination. Genetically, the clinical diagnosis is confirmed in less than 80% of girls with a clinically determined syndrome.

Rett syndrome treatment
There is currently no treatment that can stop or cure this syndrome. Supportive therapy is used to alleviate the symptoms of the syndrome. A multidisciplinary approach is important.

Symptomatic therapy includes:
 * solving gastrointestinal problems – reflux, constipation, nutritional support,
 * treatment of scoliosis,
 * improving communication skills,
 * treatment of sleep disorders,
 * Selective serotonin reuptake inhibitors,
 * antipsychotics,
 * and more.

Related Articles

 * Transcription factors
 * Pervasive Developmental Disorders