Open AccessRett syndrome: A rare case
Author(s) -
Deepika Verma,
Daniel Saldanha,
Aneek Saha,
Kushagra Verma
Publication year - 2016
Publication title -
medical journal of dr. d y patil university/medical journal of dr. d.y. patil university
Language(s) - English
Resource type - Journals
eISSN - 2278-7119
pISSN - 0975-2870
DOI - 10.4103/0975-2870.177675
Subject(s) - rett syndrome , mecp2 , epigenetics , neurodevelopmental disorder , phenotype , psychology , developmental psychology , neuroscience , medicine , genetics , biology , autism , gene
Rett syndrome (RTT) is rare, affects predominantly female children. It presents as a pervasive developmental disorder with a remarkable behavioral phenotype. The discovery that mutation in methyl-C-phosphate-G-binding protein 2 causes RTT has focused attention to the importance of epigenetic modifications in neuronal function. We report a case of RTT in a 7-year-old female child and use of behavioral techniques and social skill training to control the behavioral symptoms