 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 | 1 | 2 | | 2020 | 1 | 1 | 2 | | 2021 | 1 | 0 | 1 | | 2022 | 5 | 1 | 6 | | 2023 | 6 | 0 | 6 | | 2024 | 9 | 1 | 10 | | 2025 | 4 | 0 | 4 |
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Below are the most recent publications written about "Rett Syndrome" by people in Profiles.
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Boeri S, Piai M, Russo S, Alari V, Cogliati F, Simonetta D, Benke TA, Nobili L, Prato G. Clinical differences in monozygotic twins with Rett syndrome: case report and systematic review. Orphanet J Rare Dis. 2025 Sep 02; 20(1):473.
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Thompson T, Gurfinkel D, Silveira L, Klamut N, Ferdinandsen K, Fu C, Ananth AL, Lane JB, Marsh ED, Neul JL, Percy AK, Benke TA. Medical Biases and Misconceptions Impact Diagnoses in Males With Loss of Function MECP2 Variants. Am J Med Genet A. 2025 Oct; 197(10):e64147.
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Percy AK, Ryther R, Marsh ED, Neul JL, Benke TA, Berry-Kravis EM, Feyma T, Lieberman DN, Ananth AL, Fu C, Buhrfiend C, Barrett A, Doshi D, Darwish M, An D, Bishop KM, Youakim JM. Results from the phase 2/3 DAFFODIL study of trofinetide in girls aged 2-4 years with Rett syndrome. Med. 2025 Jun 13; 6(6):100608.
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Campbell K, Neul JL, Lieberman DN, Berry-Kravis E, Benke TA, Fu C, Percy A, Suter B, Morris D, Carpenter RL, Marsh ED, von Hehn J. A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndrome. J Neurodev Disord. 2025 Jan 24; 17(1):4.
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Downs J, Pichard DC, Kaufmann WE, Horrigan JP, Raspa M, Townend G, Marsh ED, Leonard H, Motil K, Dietz AC, Garg N, Ananth A, Byiers B, Peters S, Beatty C, Symons F, Jacobs A, Youakim J, Suter B, Santosh P, Neul JL, Benke TA. 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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Ananth A, Fu C, Neul JL, Benke T, Marsh E, Suter B, Ferdinandsen K, Skinner SA, Annese F, Percy AK. MECP2 Variants in Males: More Common than Previously Appreciated. Pediatr Neurol. 2024 Dec; 161:263-267.
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Neul JL, Benke TA, Marsh ED, Suter B, Fu C, Ryther RC, Skinner SA, Lieberman DN, Feyma T, Beisang A, Heydemann P, Peters SU, Ananth A, Percy AK. Clinical Features and Disease Progression in Older Individuals with Rett Syndrome. Genes (Basel). 2024 Aug 22; 15(8).
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Percy AK, Neul JL, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, Barrett AM, An D, Bishop KM, Youakim JM. 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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Percy AK, Neul JL, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, An D, Bishop KM, Youakim JM. 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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Motil KJ, Beisang A, Smith-Hicks C, Lembo A, Standridge SM, Liu E. Recommendations for the management of gastrointestinal comorbidities with or without trofinetide use in Rett syndrome. Expert Rev Gastroenterol Hepatol. 2024 Jun; 18(6):227-237.
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