Rett syndrome


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Rett syndrome

 [ret]
a pervasive developmental disorder affecting the gray matter of the brain, occurring exclusively in females and present from birth; it is characterized by autistic behavior, ataxia, dementia, seizures, and loss of purposeful use of the hands, with cerebral atrophy, mild hyperammonemia, and decreased levels of biogenic amines.

Rett syn·drome

(ret), [MIM*312750]
1. a pervasive developmental disorder characterized by the development of several specific deficits after an apparently normal prenatal and perinatal period, including deceleration in head growth, loss of purposeful hand skills with deterioration into stereotypical hand movements, impairment in expressive and receptive language, and significant psychomotor retardation;
2. a DSM diagnosis that is established when the specified criteria are met.

Rett syndrome

(rĕt)
n.
An X-linked dominant neurological disorder that occurs almost exclusively in girls, characterized by autism, ataxia, seizures, hypotonia, and purposeless hand movements.

Rett syn·drome

(ret sin'drōm)
A progressive syndrome of autism, dementia, ataxia, and purposeless hand movements; associated with hyperammonemia, principally in girls.

Rett syndrome

A brain disorder affecting only girls and, from the age of 9–36 months, causing progressive loss of recently acquired skills, such as speech and walking, repetitive writhing (athetoid) movements, epileptic seizures, AUTISM and gradual disablement. Brain examination shows a significant reduction in the profusion of the dendritic trees in layers 3 and 5 of the frontal and inferior temporal cortices. The visual cortex remains unaffected. The cause remains obscure but is thought to be the result of a fresh mutation rather than an inherited genetic defect. (First described in 1966 by the Austrian physician Andreas Rett).

Rett,

Andreas, Austrian physician, 1924–.
Rett syndrome - a progressive syndrome of autism, dementia, ataxia, and purposeless hand movements.
References in periodicals archive ?
Since the discovery of the gene that causes Rett syndrome in 1999, as well as research that provides the theory of reversibility in mice in 2007, there is now an unprecedented and historic opportunity to fund crucial new research.
AMO-04 is a unique drug with a long safety history that has shown significant promise as a potential treatment for Rett Syndrome based on screening by the Scout Programme sponsored by Rettsyndrome.
Debs added: "With Rett Syndrome, the research does show the girls don't have any brain damage.
The report reviews pipeline therapeutics for Rett Syndrome by companies and universities/research institutes based on information derived from company and industry-specific sources
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots.
She was an inspiration to many other families touched by Rett Syndrome.
Monica Coenraads, the mother of a 17-year-old girl with Rett Syndrome and executive director and founder of the trust, said her group is laser-focused on finding a cure for Rett Syndrome.
Rett Syndrome is an X-linked neurological disorder primarily affecting girls; in the US, about 1 in 10,000 children a year are born with Rett.
Coleen, 26, has had a difficult time since the death of her sister Rosie, 14, in January from the brain disorder Rett Syndrome.
But the couple's joy was tempered by the death of Coleen's 14-year-old sister Rosie the following month from a rare brain disorder, Rett syndrome.
The previously unpublished picture shows Rosie, who suffered from the rare brain disorder Rett syndrome, beaming with delight as her sister's maid of honour.