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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

Rett syn·drome

(ret sin'drōm)
A progressive syndrome of autism, dementia, ataxia, and purposeless hand movements; associated with hyperammonemia, principally in girls.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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).
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

Rett,

Andreas, Austrian physician, 1924–.
Rett syndrome - a progressive syndrome of autism, dementia, ataxia, and purposeless hand movements.
Medical Eponyms © Farlex 2012
References in periodicals archive ?
In a previous study with researchers showed that visual evoked potentials, an EEG measure of visual processing in the brain, could also serve as a potential biomarker for Rett syndrome.
Fagiolini and colleagues hope this system could provide an early warning signal not just for Rett syndrome but for ASD in general.
In 2018, Acadia entered into an exclusive North American license agreement with Neuren for the development and commercialization of trofinetide for Rett syndrome and other indications.
"I'd Googled the symptoms, and I knew they fitted with Rett Syndrome, so that helped us accept it, and find out things I could do to help.
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.
Debs added: "With Rett Syndrome, the research does show the girls don't have any brain damage.
Rett Syndrome: Revised Diagnostic Criteria and Nomenclature.
Zoghbi, "The story of Rett syndrome: from clinic to neurobiology," Neuron, vol.
Global Markets Direct's, 'Rett Syndrome - Pipeline Review, H1 2016', provides an overview of the Rett Syndrome pipeline landscape.
The five-year-old suffers from Rett Syndrome, a neurological disorder which has left her locked in her own body.
The prevalence and incidence of Rett syndrome in Australia.