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    Rett syndrome is a rare neurological and developmental genetic disorder that primarily affects girls, occurring in about 1 in 12,000 births. It results from spontaneous mutations in the MECP2 gene which regulates brain development. The disorder progresses through four stages - early stagnation, regression, plateau, and deterioration - and is characterized by loss of speech and hand skills, intellectual disability, seizures, and other issues. While there is no cure, treatment focuses on managing symptoms through physical, occupational, and speech therapies.

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    Rett syndrome is a rare neurological and developmental genetic disorder that primarily affects girls, occurring in about 1 in 12,000 births. It results from spontaneous mutations in the MECP2 gene which regulates brain development. The disorder progresses through four stages - early stagnation, regression, plateau, and deterioration - and is characterized by loss of speech and hand skills, intellectual disability, seizures, and other issues. While there is no cure, treatment focuses on managing symptoms through physical, occupational, and speech therapies.

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    5 views6 pages

    Rett Syndrome

    Uploaded by

    rima.assi.2025
    Rett syndrome is a rare neurological and developmental genetic disorder that primarily affects girls, occurring in about 1 in 12,000 births. It results from spontaneous mutations in the MECP2 gene which regulates brain development. The disorder progresses through four stages - early stagnation, regression, plateau, and deterioration - and is characterized by loss of speech and hand skills, intellectual disability, seizures, and other issues. While there is no cure, treatment focuses on managing symptoms through physical, occupational, and speech therapies.

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    of 6

    Rett

    Syndrome
    What is Rett
    Syndrome?
    ➪ Neurological and
    developmental genetic
    disorder
    ➪ 1 in 12 000 girls born
    ➪ rarely seen in boys

    ➪ Stage 1 - Stagnation
    ➪ Stage 2 - Regression
    ➪ Stage 3 - Plateau
    ➪ Stage 4 - Deterioration
    in movement
    What causes Rett
    Syndrome?
    Healthy Cell Unhealthy cell ➪ Spontaneous
    mutation
    ➪ Sex ⇌ mortality
    rates
    ➪ MECP2 gene ⇌
    severity
    ➪ How can males
    can survive past
    infancy?

    Normal MECP2 Mutant MECP2 Normal MECP2 Mutant


    active inactive inactive MECP2 active
    Diagnosis
    Prenatal Postnatal
    diagnosis diagnosis
    ➪ Physical Exam
    ➪ Amniocentesis ➪ Description of the
    ➪ Chorionic villus child’s development
    sampling (CVS) ➪ Genetic blood test
    Prevention and
    Can Rett syndrome be
    treatment
    prevented? How?
    Individual treatment
    Since it is a spontaneous
    mutation Rett syndrome
    can not be prevented

    Occupational
    therapy
    Physical therapy

    Speech therapy

    Medication
    Resources
    Google.com. (2022a). Redirect Notice. [online] Available at:
    https://www.google.com/url?sa=i&url=https%3A%2F%2Fblog.madeformovement.com%2Fen-gb%2Ftag%2Frett-syndrom&psig=AOvVaw2fTuUQ
    ryjoyTS6j9yaAvEx&ust=1668184510046000&source=images&cd=vfe&ved=0CBAQjRxqFwoTCODghN2FpPsCFQAAAAAdAAAAABAI [Accessed
    10 Nov. 2022].

    Google.com. (2022b). Redirect Notice. [online] Available at:


    https://www.google.com/url?sa=i&url=https%3A%2F%2Fdiabetes.org%2Fhealthy-living%2Fmedication-treatments&psig=AOvVaw0xbJk-BFRyhM
    ccM9Z9xeq1&ust=1668364621610000&source=images&cd=vfe&ved=0CBAQjRxqFwoTCIiD-dekqfsCFQAAAAAdAAAAABAH [Accessed 12 Nov.
    2022].

    http://www.nichd.nih.gov/. (2016). What causes Rett syndrome? [online] Available at:


    https://www.nichd.nih.gov/health/topics/rett/conditioninfo/causes.

    Mayo Clinic. (n.d.). Rett syndrome - Symptoms and causes. [online] Available at:
    https://www.mayoclinic.org/diseases-conditions/rett-syndrome/symptoms-causes/syc-20377227#:~:text=Rett%20syndrome%20is%20a%20rare.

    NHS Choices (2019). Rett syndrome. [online] NHS. Available at: https://www.nhs.uk/conditions/rett-syndrome/.

    Solutions, T.H. (2019). RETT Syndrome-An Overview. [online] Medium. Available at:
    https://medium.com/@aadamaahron/rett-syndrome-an-overview-fe2bf9b3d006.

    Subramaniam, V. (n.d.). Prenatal Diagnosis - Rett Syndrome News. [online] Available at:
    https://rettsyndromenews.com/prenatal-diagnosis/#:~:text=Prenatal%20diagnosis%20for%20Rett%20syndrome.

    Trust, M.C.E.O.S.R. (n.d.). Wake Up MECP2! [online] Rett Syndrome Research Trust. Available at:
    https://reverserett.org/news/articles/wake-up-mecp2/ [Accessed 12 Nov. 2022].

    www.orthobullets.com. (n.d.). Rett Syndrome - Pediatrics - Orthobullets. [online] Available at:


    https://www.orthobullets.com/pediatrics/4107/rett-syndrome [Accessed 10 Nov. 2022].

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