"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 |
|---|
| 1995 | 1 | 1 | 2 |
| 1997 | 1 | 0 | 1 |
| 1998 | 6 | 0 | 6 |
| 1999 | 4 | 0 | 4 |
| 2000 | 6 | 0 | 6 |
| 2001 | 3 | 1 | 4 |
| 2002 | 7 | 1 | 8 |
| 2003 | 3 | 1 | 4 |
| 2004 | 5 | 0 | 5 |
| 2005 | 5 | 1 | 6 |
| 2006 | 6 | 0 | 6 |
| 2007 | 3 | 0 | 3 |
| 2008 | 3 | 1 | 4 |
| 2009 | 4 | 1 | 5 |
| 2010 | 6 | 1 | 7 |
| 2011 | 4 | 1 | 5 |
| 2012 | 3 | 0 | 3 |
| 2013 | 3 | 1 | 4 |
| 2014 | 5 | 0 | 5 |
| 2015 | 11 | 1 | 12 |
| 2016 | 9 | 1 | 10 |
| 2017 | 3 | 0 | 3 |
| 2018 | 8 | 2 | 10 |
| 2019 | 5 | 1 | 6 |
| 2020 | 5 | 1 | 6 |
| 2021 | 6 | 0 | 6 |
| 2022 | 4 | 0 | 4 |
| 2023 | 11 | 0 | 11 |
| 2024 | 7 | 2 | 9 |
To return to the timeline,
click here.
Below are the most recent publications written about "Rett Syndrome" by people in Profiles.
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International workshop: what is needed to ensure outcome measures for Rett syndrome are fit-for-purpose for clinical trials? June 7, 2023, Nashville, USA. Trials. 2024 Dec 21; 25(1):845.
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Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels. Hum Mol Genet. 2024 11 08; 33(22):1986-2001.
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Gastrointestinal manifestations of Rett syndrome: An updated analysis using the Gastrointestinal Health Questionnaire. J Pediatr Gastroenterol Nutr. 2025 Jan; 80(1):46-56.
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MECP2 Variants in Males: More Common than Previously Appreciated. Pediatr Neurol. 2024 Dec; 161:263-267.
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Clinical Features and Disease Progression in Older Individuals with Rett Syndrome. Genes (Basel). 2024 Aug 22; 15(8).
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Trofinetide for the treatment of Rett syndrome: Long-term safety and efficacy results of the 32-month, open-label LILAC-2 study. Med. 2024 Oct 11; 5(10):1275-1281.e2.
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Trofinetide for the treatment of Rett syndrome: Results from the open-label extension LILAC study. Med. 2024 Sep 13; 5(9):1178-1189.e3.
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Sensory experiences questionnaire unravels differences in sensory profiles between MECP2-related disorders. Autism Res. 2024 04; 17(4):775-784.
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Adapting a measure of gross motor skills for individuals with CDKL5 deficiency disorder: A psychometric study. Epilepsy Res. 2024 Feb; 200:107287.
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Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome. Pediatr Neurol. 2024 Mar; 152:63-72.