 Rett Syndrome
"Rett Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
| Descriptor ID |
D015518
|
| MeSH Number(s) |
C10.597.606.643.455.937 C16.320.322.500.937 C16.320.400.525.937
|
| Concept/Terms |
Rett Syndrome- Rett Syndrome
- Syndrome, Rett
- Cerebroatrophic Hyperammonemia
- Cerebroatrophic Hyperammonemias
- Hyperammonemia, Cerebroatrophic
- Hyperammonemias, Cerebroatrophic
- Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
- Rett's Disorder
- Rett's Syndrome
- Retts Syndrome
- Syndrome, Rett's
- Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
- Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
- Rett Disorder
|
Below are MeSH descriptors whose meaning is more general than "Rett Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Rett Syndrome".
This graph shows the total number of publications written about "Rett Syndrome" by people in this website by year, and whether "Rett Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1996 | 1 | 0 | 1 | | 2002 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2009 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Rett Syndrome" by people in Profiles.
-
Saby JN, Benke TA, Peters SU, Standridge SM, Matsuzaki J, Cutri-French C, Swanson LC, Lieberman DN, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Multisite Study of Evoked Potentials in Rett Syndrome. Ann Neurol. 2021 04; 89(4):790-802.
-
Raspa M, Bann CM, Gwaltney A, Benke TA, Fu C, Glaze DG, Haas R, Heydemann P, Jones M, Kaufmann WE, Lieberman D, Marsh E, Peters S, Ryther R, Standridge S, Skinner SA, Percy AK, Neul JL. A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials. Am J Intellect Dev Disabil. 2020 11 01; 125(6):493-509.
-
Neul JL, Benke TA, Marsh ED, Skinner SA, Merritt J, Lieberman DN, Standridge S, Feyma T, Heydemann P, Peters S, Ryther R, Jones M, Suter B, Kaufmann WE, Glaze DG, Percy AK. The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2. . 2019 01; 180(1):55-67.
-
Reichow B, George-Puskar A, Lutz T, Smith IC, Volkmar FR. Brief report: systematic review of Rett syndrome in males. J Autism Dev Disord. 2015 Oct; 45(10):3377-83.
-
Brooks-Kayal A. Molecular mechanisms of cognitive and behavioral comorbidities of epilepsy in children. Epilepsia. 2011 Jan; 52 Suppl 1:13-20.
-
Gibson JH, Slobedman B, K N H, Williamson SL, Minchenko D, El-Osta A, Stern JL, Christodoulou J. Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain. BMC Neurosci. 2010 Apr 26; 11:53.
-
Pickler L, Elias E. Genetic evaluation of the child with an autism spectrum disorder. Pediatr Ann. 2009 Jan; 38(1):26-9.
-
Kumar A, Kamboj S, Malone BM, Kudo S, Twiss JL, Czymmek KJ, LaSalle JM, Schanen NC. Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. J Cell Sci. 2008 Apr 01; 121(Pt 7):1128-37.
-
Villemagne PM, Naidu S, Villemagne VL, Yaster M, Wagner HN, Harris JC, Moser HW, Johnston MV, Dannals RF, Wong DF. Brain glucose metabolism in Rett Syndrome. Pediatr Neurol. 2002 Aug; 27(2):117-22.
-
Wong DF, Harris JC, Naidu S, Yokoi F, Marenco S, Dannals RF, Ravert HT, Yaster M, Evans A, Rousset O, Bryan RN, Gjedde A, Kuhar MJ, Breese GR. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci U S A. 1996 May 28; 93(11):5539-43.
|
People  People who have written about this concept. _
Similar Concepts
People who have written about this concept.
_
Top Journals
Top journals in which articles about this concept have been published.
|