X – Chromosome Linked Rett Syndrome

Open Access

Year : 2023 | Volume :11 | Issue : 1 | Page : 9-17

    Zeel Shah

  1. Student, B.Pharm Sem. 6, SAL Institute of Pharmacy, Ahmedabad, Gujarat, India


Rett Syndrome (RTT) is a genetic brain disorder which typically becomes apparent after 6 to 18 months of age in females synonymized as “Cerebroatrophic hyperammonemia”. It is due to genetic mutation of the MECP2 gene present on the X-chromosome. Develops as a new mutation with

Keywords: Genetic disorder, majorly in girls, nomy, physiotherapy, speech

[This article belongs to Research & Reviews: A Journal of Neuroscience(rrjons)]

How to cite this article: Zeel Shah , X – Chromosome Linked Rett Syndrome rrjons 2023; 11:9-17
How to cite this URL: Zeel Shah , X – Chromosome Linked Rett Syndrome rrjons 2023 {cited 2023 Mar 15};11:9-17. Available from: https://journals.stmjournals.com/rrjons/article=2023/view=91636

Full Text PDF Download

Browse Figures


1. Amir RE, Van den Veyver IB, et al. Rett syndrome is caused by mutations in X-linked MECP2. Nature Genetics. 1999; 23(2): 185–188.
2. Schollen E, Smeets E, Deflem E, Fryns JP, Mathis G. Gross rearrangements in the MECP2 gene in three patients with Rett syndrome: Implications for routine diagnosis of Rett syndrome. Human Mutations. 2003; 22(2): 116–120.
3. Zoghbi HY. MeCP2 dysfunction in humans and mice. Journal of Child Neurology. 2005; 20(9): 736–740.
4. National Institute of Neurological Disorders and Stroke. Rett syndrome Facesheet (March, 2020). [Online Available] at: https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact- Sheets/Rett-Syndrome-Fact-Sheet.
5. Percy AK, Lane JB, Childers J, Skinner S, Annese F, Barrish J, et al. Rett syndrome: North American database. Journal of Child Neurology. 2007; 22(12): 1338–1341.
6. 7.Mari F, Azimonti S, Bertani I, Bolognese F, Colombo E, Caselli R, et al. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Human Molecular Genetics. 2005; 14(14): 1935–1946.
7. 8.Jacob FD, Ramaswamy V, Andersen J, Bolduc FV. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: Case report and review of literature. European Journal of Human Genetics. 2009; 17(12): 1577–1581.
8. 6.Percy AK, Dragich J, Schanen C. Genetics and neurobehavioral disorders. Rett Syndrome: Clinical-Molecular Correlates. Totowa, NJ: Humana Press; 2003. pp. 391–418.
9. Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. Rett syndrome: Clinical review and genetic update. Journal of Medical Genetics. 2005; 42(1): 1–7.
10. Medline Plus. (April, 2020). Rett syndrome. [Online] Available from: https://medlineplus.gov/rettsyndrome.html.
11. International Rett Syndrome Foundation. About Rett syndrome. Assessed on May, 2012. [Online] Available from: http://www.rettsyndrome.org/understanding-rett-syndrome/about-rett-syndrome.
12. PubMed Health. (June, 2010). Rett syndrome. [Online] Available from: http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002503.
13. United Cerebral Palsy. (2009). Can Rett syndrome be treated? Assessed on June, 2012. [Online] Available from: http://www.mychildwithoutlimits.org/?page=rett-syndrome-treatment
14. Medscape. Rett syndrome treatment and management (September, 2020). [Online] Available from: https://emedicine.medscape.com/article/916377-treatment#showall.
15. Shah PE, Dalton R, Boris NW. Pervasive developmental disorders and childhood psychosis. Kliegman RM, Behrman RE, Jenson HB, Stanton BF (Eds). Nelson Textbook of Pediatrics.18th ed. Philadelphia, PA: Saunders Elsevier; 2007.
16. Medline Plus. (2012). Rett syndrome. Assessed on May 2012. [Online] Available from: http://www.nlm.nih.gov/medlineplus/ency/article/001536.htm.
17. Nomura Y, Segawa M. Clinical features of the early stage of the Rett syndrome. Brain Development. 1990; 12(1): 16–19.
18. Einspieler C, Kerr AM, Prechtl HFR. Is the early development of girls with Rett disorder really normal? Pediatric Research. 2005; 57(5 Pt. 1): 696–700.
19. Orphanet Bienvenu, T (March, 2009). A typical Rett syndrome. [Online] Available from: from http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3095.
20. Clinical Trials. (September 21, 2020). Rare Diseases Clinical Research Network. Neurophysiological correlates. [Online] Available from https://clinicaltrials.gov/ct2/show/NCT03077308.
21. International Rett Syndrome Foundation. (2008). What is Rett syndrome. Assessed on May 2012, from https://www.rettsyndrome.org/about-rett-syndrome/what-is-rett-syndrome/.
22. Kerr AM, Webb P, Prescott RJ, Milne Y. Results of surgery for scoliosis in Rett syndrome. Journal of Child Neurology. 2003; 18(10): 703–708.
23. Percy AK, Lane JB. Rett syndrome: Clinical and molecular update. Current Opinions in Pediatrics. 2004; 16(6): 660–667.
24. Ellaway CJ, Sholler G, Leonard H, Christodoulou J. Prolonged QT interval in Rett syndrome. Archives of Disease in Childhood. 1999; 80(5): 470–472.
25. Guideri F, Acampa M, DiPerri T, Zapella M, Hayek Y. Progressive cardiac dysautonomia observed in patients affected by classic Rett syndrome and not in the preserved speech variant. Journal of Child Neurology. 2004; 16: 370–373.
26. Ellaway C, Peat J, Leonard H, Christodoulou J. Sleep dysfunction in Rett syndrome: Lack of age- related decrease in sleep duration. Brain Development. 2001; 23(Suppl 1):S-101–3.
27. Nomura Y. Early behavior characteristics and sleep disturbance in Rett syndrome. Brain and Development. 2005; 27(Suppl 1): S35–S42.
28. Rare Diseases Clinical Research Network. (2012). Disorder Definitions. Assessed on May 2012, from https://www.rarediseasesnetwork.org/cms/rett/Learn-More/Disorder-Definitions.
29. International Rett Syndrome Foundation. (2008). Rett syndrome Diagnosis. Retrieved May 10, 2012, from https://www.rettsyndrome.org/about-rett-syndrome/rett-syndrome-diagnosis/.
30. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. Rett syndrome: Revised diagnostic criteria and nomenclature. Annals of Neurology. 2010; 68(6): 944– 950.
31. International Rett Syndrome Foundation. (2008). History of Rett Syndrome: Retrieved June 23, 2012, from https://www.rettsyndrome.org/about-rett-syndrome/history-of-rett/.
32. Hagberg B, Hanefeld F, Percy A, Skjeldal O. An update on clinically applicable diagnostic criteria in Rett syndrome. Comments to Rett Syndrome Clinical Criteria Consensus Panel Satellite to European Pediatric Neurology Society Meeting, Germany 2001. European Journal of Pediatric Neurology. 2002; 6(5): 293–297.

Regular Issue Open Access Article
Volume 11
Issue 1
Received March 2, 2021
Accepted April 15, 2021
Published March 15, 2023