 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
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| MeSH Number(s) |
C10.597.606.643.455.937 C16.320.322.500.937 C16.320.400.525.937
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| 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
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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 |
|---|
| 2008 | 1 | 0 | 1 | | 2009 | 0 | 1 | 1 | | 2018 | 1 | 0 | 1 | | 2020 | 1 | 1 | 2 | | 2021 | 1 | 0 | 1 | | 2022 | 5 | 1 | 6 | | 2023 | 6 | 0 | 6 | | 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Rett Syndrome" by people in Profiles.
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Saldaris JM, Jacoby P, Marsh ED, Suter B, Leonard H, Olson HE, Rajaraman R, Pestana-Knight E, Weisenberg J, Price D, Drummond C, Benke TA, Demarest S, Downs J. 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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Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Peters SU, Marsh ED, An D, Bishop KM, Youakim JM. Trofinetide Treatment Demonstrates a Benefit Over Placebo for the Ability to Communicate in Rett Syndrome. Pediatr Neurol. 2024 Mar; 152:63-72.
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Neul JL, Benke TA, Marsh ED, Suter B, Silveira L, Fu C, Peters SU, Percy AK. Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study. J Neurodev Disord. 2023 10 13; 15(1):33.
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Fang X, Baggett LM, Caylor RC, Percy AK, Neul JL, Lane JB, Glaze DG, Benke TA, Marsh ED, Motil KJ, Barrish JO, Annese FE, Skinner SA. Parental age effects and Rett syndrome. Am J Med Genet A. 2024 Feb; 194(2):160-173.
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Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, Lin T, Stankovic S, Bishop KM, Youakim JM. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nat Med. 2023 Jun; 29(6):1468-1475.
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Rodrigues DC, Mufteev M, Yuki KE, Narula A, Wei W, Piekna A, Liu J, Pasceri P, Rissland OS, Wilson MD, Ellis J. Buffering of transcription rate by mRNA half-life is a conserved feature of Rett syndrome models. Nat Commun. 2023 04 05; 14(1):1896.
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Saby JN, Peters SU, Benke TA, Standridge SM, Swanson LC, Lieberman DN, Olson HE, Key AP, Percy AK, Neul JL, Nelson CA, Roberts TPL, Marsh ED. Comparison of evoked potentials across four related developmental encephalopathies. J Neurodev Disord. 2023 03 04; 15(1):10.
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Leonard H, Whitehouse A, Jacoby P, Benke T, Demarest S, Saldaris J, Wong K, Reddihough D, Williams K, Downs J. Quality of life beyond diagnosis in intellectual disability - Latent profiling. Res Dev Disabil. 2022 Oct; 129:104322.
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Buchanan CB, Stallworth JL, Joy AE, Dixon RE, Scott AE, Beisang AA, Benke TA, Glaze DG, Haas RH, Heydemann PT, Jones MD, Lane JB, Lieberman DN, Marsh ED, Neul JL, Peters SU, Ryther RC, Skinner SA, Standridge SM, Kaufmann WE, Percy AK. Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study. J Neurodev Disord. 2022 05 14; 14(1):31.
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Fang X, Butler KM, Abidi F, Gass J, Beisang A, Feyma T, Ryther RC, Standridge S, Heydemann P, Jones M, Haas R, Lieberman DN, Marsh ED, Benke TA, Skinner S, Neul JL, Percy AK, Friez MJ, Caylor RC. Analysis of X-inactivation status in a Rett syndrome natural history study cohort. Mol Genet Genomic Med. 2022 05; 10(5):e1917.
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