Author(s): Satya Sai Sri Narava, Sowmya Kucherlapati, Vinod Kumar Mugada, Srinivasa Rao Yarguntla


DOI: 10.52711/2321-5836.2023.00029   

Address: Satya Sai Sri Narava1*, Sowmya Kucherlapati1, Vinod Kumar Mugada1, Srinivasa Rao Yarguntla2
1Department of Pharmacy Practice, Vignan Institute of Pharmaceutical Technology, Duvvada, AP, India.
2Department of Pharmaceutics, Vignan Institute of Pharmaceutical Technology, Duvvada, AP, India.
*Corresponding Author

Published In:   Volume - 15,      Issue - 4,     Year - 2023

Rett syndrome is a neurodevelopmental disorder primarily affecting females, characterised by slowed growth, developmental regression, loss of fine motor skills, communication difficulties, and stereotypical hand movements. It is strongly associated with mutations in the MECP2 gene, while other variations have been linked to FOXG1 and CDKL5 mutations. This review provides an in-depth understanding of Rett syndrome, including its causes, symptoms, and available treatments. The epidemiology of Rett syndrome indicates a varying prevalence across different regions. Males with Rett syndrome, though rare, have been reported. The aetiology of Rett syndrome involves MECP2 mutations that lead to functional loss, affecting synapse development and maintenance. Mitochondrial dysfunction and oxidative stress have also been implicated in the disorder. Neuropathological findings reveal specific abnormalities in various brain regions. The symptoms of Rett syndrome include slowed head growth, abnormal gait, loss of intentional hand movements, breathing difficulties, and loss of speech. Complications such as metabolic issues, epilepsy, scoliosis, and gastrointestinal dysfunction are common. The diagnosis relies on clinical criteria and genetic testing for MECP2 mutations. Treatment for Rett syndrome is symptomatic and includes individualised rehabilitation therapies such as physical therapy, applied behaviour analysis, environmental enrichment, hydrotherapy, and music therapy. The review emphasises the importance of early intervention and family involvement in rehabilitation programmes.

Cite this article:
Satya Sai Sri Narava, Sowmya Kucherlapati, Vinod Kumar Mugada, Srinivasa Rao Yarguntla. A Review on Rett Syndrome: A Debilitating Neurodevelopmental Disorder. Research Journal of Pharmacology and Pharmacodynamics.2023;15(4):159-4. doi: 10.52711/2321-5836.2023.00029

Satya Sai Sri Narava, Sowmya Kucherlapati, Vinod Kumar Mugada, Srinivasa Rao Yarguntla. A Review on Rett Syndrome: A Debilitating Neurodevelopmental Disorder. Research Journal of Pharmacology and Pharmacodynamics.2023;15(4):159-4. doi: 10.52711/2321-5836.2023.00029   Available on:

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