Rett Syndrome
By: Shelby Dickinson
Facts About Rett Syndrome
1. 1: Rett syndrome is a severe genetic disorder of the nervous system caused, in most cases, by a mutation in the MECP2 gene. http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Rett_syndrome
2. 2: It is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
3. 3: The disorder was identified by Dr. Andreas Rett, an Austrian physician who first described it in a journal article in 1966. http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
4. 4: Apraxia — the inability to perform motor functions — is perhaps the most severely disabling feature of Rett syndrome, interfering with every body movement, including eye gaze and speech. http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
5. 5: Although Rett syndrome is a genetic disorder, less than 1 percent of recorded cases are inherited or passed from one generation to the next. Most cases are spontaneous, which means the mutation occurs randomly. http://www.ninds.nih.gov/disorders/rett/detail_rett.htm
6. 6: Rett syndrome is estimated to affect one in every 10,000 to 15,000 live female births and in all racial and ethnic groups worldwide.
7. 7: Despite the difficulties with symptoms, many individuals with Rett syndrome continue to live well into middle age and beyond. Because the disorder is rare, very little is known about long-term prognosis and life expectancy. https://www.rettsyndrome.org/for-families/faq#035
8. 8: The child with RTT is usually born healthy and shows an early period of apparently normal or near normal development until 6-18 months of life, when there is a slowing down or stagnation of skills. A period of regression then follows when she loses communication skills and purposeful use of her hands and slowing of the normal rate of head growth become apparent. https://www.rettsyndrome.org/for-families/faq#035
9. 9: Technically, there are 4 stages of Rett syndrome which goes in the following order: Early Onset (6-12 months), Rapid Destructive Stage (1-4 years), Plateau Stage (preschool to adulthood), and Late Motor Deterioration Stage (age where movement or walking is lost until death). https://www.rettsyndrome.org/for-families/faq#021
10. 10: Rett syndrome is most often misdiagnosed as autism, cerebral palsy or non-specific developmental delay. While many health professionals may not be familiar with RTT, it is a relatively frequent cause of delayed development in girls. https://www.rettsyndrome.org/for-families/faq#021
Charts and Graphs About Rett Syndrome
Weight (Normal vs. Rett)
Height (Normal vs. Rett)
BMI (Normal vs. Rett)
Clips about Rett Syndrome
- 1 hour video all about Rett syndrome: http://www.hhmi.org/biointeractive/strength-families-solving-rett-syndrome
- The View: https://youtu.be/wNzyn_cfmtc
- More videos about Rett syndrome: http://rett.tv