CDKL5 DEFICIENCY DISORDER (CDD): CASE STUDY OF A CDD WARRIOR

Abstract

Many cases of gene linked diseases are surfacing these days. CDKL5 Deficiency Disorder (CDD) is one of them. CDD is caused by mutations in the CDKL5 gene and has been increasingly recognized as a distinct clinical entity in the last decade. Initially, CDD has been described as an early seizure variant of Rett syndrome, CDKL5 disorder is now considered an independent entity. It is a genetic disorder that causes mild to severe seizures, developmental delays and severe cognitive disability. This case study is an attempt to understand CDD on a personal level by conducting an in-depth study of a child with CDD. This study is undertaken to understand various developmental aspects of a child with CDD, and further to explore their daily routine, specific problems and success of treatment given. This study is also an attempt to understand the parents’ prospective of the child’s ailment and their struggle to provide appropriate treatment to them.