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Causes
By Mayo Clinic staffRett syndrome is a genetic disorder, but in only a few cases is it inherited. Instead, the genetic mutation that causes the disease occurs randomly and spontaneously — often when sperm are formed and occasionally after the sperm and egg come together (conception).
Rett syndrome in boys
Because males have a different chromosome combination from females, boys who have the genetic mutation that causes Rett syndrome are affected in devastating ways. Most of them die before birth or in early infancy.
A very small number of boys have a less destructive form of Rett syndrome. Like girls with Rett syndrome, these boys are likely to live to adulthood but are still at risk of a number of health and behavior problems.
- Shultz RJ, et al. Rett syndrome. http://www.uptodate.com/home/index.html. Accessed May 14, 2010.
- What is Rett syndrome? National Institute of Child Health and Human Development. http://www.nichd.nih.gov/publications/pubs/upload/rett_syndrome_2006.pdf#page=6. Accessed May 14, 2010.
- Rett syndrome. Genetics Home Reference. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/condition=rettsyndrome. Accessed May 14, 2010.
- Rett syndrome. National Institute of Child Health and Human Development. http://www.nichd.nih.gov/health/topics/Rett_Syndrome.cfm?renderforprint=1. Accessed May 13, 2010.
- Chahrour M, et al. The story of Rett syndrome: From clinic to neurobiology. Neuron. 2007;56:422.
- Hagberg B, et al. An update on clinically applicable diagnostic criteria in Rett syndrome. European Journal of Pediatric Neurology. 2002;6:293.
- Rett's Disorder. In: Diagnostic and Statistical Manual of Mental Disorders DSM-IV-TR. 4th ed. Arlington, Va.: American Psychiatric Association; 2000. http://www.psychiatryonline.com. Accessed June 8, 2010.
- Lotan M, et al. Management of young children with Rett disorder in the controlled multi-sensory (Snoezelen) environment. Brain & Development 2005;27:S88.
- Alternative therapeutic intervention for individuals with Rett syndrome. The Scientific World Journal. 2007;29:698.
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