Will my Rett syndrome patient walk, talk, and use her hands?
نویسندگان
چکیده
2008;70;1302-1303 Neurology Yuzhi Zhang and Berge A. Minassian Will my Rett syndrome patient walk, talk, and use her hands? This information is current as of July 14, 2008 http://www.neurology.org/cgi/content/full/70/16/1302 located on the World Wide Web at: The online version of this article, along with updated information and services, is All rights reserved. Print ISSN: 0028-3878. Online ISSN: 1526-632X. since 1951, it is now a weekly with 48 issues per year. Copyright © 2008 by AAN Enterprises, Inc. ® is the official journal of the American Academy of Neurology. Published continuously Neurology
منابع مشابه
The Ironies of Human Mind: A Case of Rett Syndrome
BACKGROUND Rett Syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands. It is also associated with profound mental retardation and almost exclusively affects females. CASE DETAILS A four and a half year old girl reported to our dental OPD for a dental checkup. On compl...
متن کاملMicroduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report
Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...
متن کاملDisorganized rhythm and synchrony: early signs of autism and Rett syndrome.
We interpret early age-related developments in intentions and socially responsive behaviour with data from home videos of infants who later develop autism or Rett syndrome. Detailed evidence is given from a micro-analytic study of videos of monozygotic twin girls at 11 months, one of whom became autistic in the second year. Changes in this twin's attention, motor tonus, initiative and emotion r...
متن کاملAbnormal movements in Rett syndrome are present before the regression period: a case study.
The suspicion of a diagnosis of Rett syndrome (RTT) is based on clinical criteria that are often not present in the first two stages of the disease, as many of its symptoms will appear at a later age. This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19-months-old girl who came to the consultation because of an arrest of psychomotor develo...
متن کاملThe night a student doctor cut the cord.
I roared onto North Avenue, inches behind my mentor in her Volkswa-gen. We ran through the hospital, saying hellos up to the fifth floor. Urgent. The room was dark. Two nurses in pale blue scrubs greeted us; the patient barely noticed, softly pleading for the pain to cease. At once the room flooded with a calm tension. There were no family members decorating the starkly empty plastic chairs. He...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Neurology
دوره 70 16 شماره
صفحات -
تاریخ انتشار 2008