Rett Syndrome: A Review

Abstract

Rett syndrome (RS) is a progressive neuro developmental disorder with a significant severity of intellectual disability that occurs mainly in females. The syndrome was named after an Austrian physician called Andreas Rett who first described it in the medical literature in the year 1960. This disorder involves a regression of previously acquired skills followed by a period of typical development. Rett syndrome unveils multitude of symptoms such as deceleration in head growth, gait abnormalities, loss of purposeful hand movements often replaced with repetitive stereotypical movement, loss of speech and breathing abnormalities. It is caused by the mutations (de novo mutations) in methyl-CpG-binding protein 2 (MECP2) and Cyclin-dependent kinase-like 5(CDKL5) genes. In this article, various aspects of Rett Syndrome along with the gene modifying therapy were discussed. The road to cure Rett syndrome is paved with novel findings but also escalating many challenges. In the current scenario a special focus is laid in addressing the specific symptoms of Rett syndrome neglecting the underlying cause, which might impact the disease progression. Therefore a multidisciplinary team approach to treat the prevailing symptoms will maximise the patient’s abilities and provides an effective cure. This will involve major efforts on the part of translational researchers and collaboration with both pharmaceutical enterprises and regulatory agencies overseeing the critical safety concerns.