"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 |
|---|
| 2010 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 2 | 0 | 2 |
| 2018 | 2 | 0 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Rett Syndrome" by people in Profiles.
-
A Pilot Study Delivering Physiotherapy Support for Rett Syndrome Using a Telehealth Framework Suitable for COVID-19 Lockdown. Dev Neurorehabil. 2021 Aug; 24(6):429-434.
-
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated a-tubulin defect which improves after iHDAC6 treatment in Rett syndrome. Exp Cell Res. 2018 07 15; 368(2):225-235.
-
Activation of the Medial Prefrontal Cortex Reverses Cognitive and Respiratory Symptoms in a Mouse Model of Rett Syndrome. eNeuro. 2017 Nov-Dec; 4(6).
-
Regulatory variants of FOXG1 in the context of its topological domain organisation. Eur J Hum Genet. 2018 02; 26(2):186-196.
-
A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes. BMC Med Genet. 2017 03 17; 18(1):30.
-
Restoration of Mecp2 expression in GABAergic neurons is sufficient to rescue multiple disease features in a mouse model of Rett syndrome. Elife. 2016 06 21; 5.
-
Rett syndrome: revised diagnostic criteria and nomenclature. Ann Neurol. 2010 Dec; 68(6):944-50.