 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) |
C10.574.500.775 C10.597.606.643.455.937 C16.320.322.500.937 C16.320.400.525.937 C16.320.400.700
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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 |
|---|
| 2006 | 2 | 0 | 2 | | 2016 | 0 | 1 | 1 | | 2019 | 1 | 0 | 1 | | 2022 | 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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Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Peters SU, Jones NE, Youakim JM. Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome. Contemp Clin Trials. 2022 03; 114:106704.
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Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019 04 16; 92(16):e1912-e1925.
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van Karnebeek CD, Bowden K, Berry-Kravis E. Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future. Pediatr Neurol. 2016 12; 65:1-13.
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Weese-Mayer DE, Lieske SP, Boothby CM, Kenny AS, Bennett HL, Silvestri JM, Ramirez JM. Autonomic nervous system dysregulation: breathing and heart rate perturbation during wakefulness in young girls with Rett syndrome. Pediatr Res. 2006 Oct; 60(4):443-9.
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Assadi F, Crowe C, Rouhi O. Hyperkalemic distal renal tubular acidosis associated with Rett syndrome. Pediatr Nephrol. 2006 Apr; 21(4):588-90.
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