 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 | | 2015 | 1 | 0 | 1 | | 2018 | 1 | 0 | 1 | | 2020 | 1 | 1 | 2 | | 2021 | 1 | 0 | 1 | | 2022 | 5 | 1 | 6 | | 2023 | 6 | 0 | 6 | | 2024 | 8 | 1 | 9 | | 2025 | 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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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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Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul JL, Marsh ED, Skinner SA, Percy AK, Benke TA. Rett syndrome diagnostic odyssey: Limitations of NextGen sequencing. Am J Med Genet A. 2024 Oct; 194(10):e63725.
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Saby JN, Mulcahey PJ, Benke TA, Peters SU, Standridge SM, Lieberman DN, Key AP, Percy AK, Nelson CA, Roberts TPL, Neul JL, Marsh ED. Electroencephalographic Correlates of Clinical Severity in the Natural history study of RTT and Related Disorders. Ann Neurol. 2024 Jul; 96(1):175-186.
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Raspa M, Gwaltney A, Bann C, von Hehn J, Benke TA, Marsh ED, Peters SU, Ananth A, Percy AK, Neul JL. Psychometric Assessment of the Rett Syndrome Caregiver Assessment of Symptom Severity (RCASS). J Autism Dev Disord. 2025 Mar; 55(3):997-1009.
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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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