Etiology and the Genetic Basis of Intellectual Disability in the  Pediatric Population

Višnja Tomac*; Silvija Pušeljić; Ivana Škrlec; Mirna Anđelić; Martina Kos; Jasenka Wagner

doi:10.26332/seemedj.v1i1.28

Višnja Tomac* Clinical Hospital Centre Osijek, Department of Pediatrics
Silvija Pušeljić Department of Pediatrics, Faculty of Medicine Osijek, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
Ivana Škrlec Department of Medical Biology and Genetics, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
Mirna Anđelić Department of Medical Biology and Genetics, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia
Martina Kos Pediatric Clinic, Clinical Hospital Centre Osijek, Osijek, Croatia
Jasenka Wagner Department of Medical Biology and Genetics, Faculty of Medicine, Josip Juraj Strossmayer University of Osijek, Osijek, Croatia

DOI: https://doi.org/10.26332/seemedj.v1i1.28

Abstract

Intellectual disability/mental retardation (ID/MR) is defined as incomplete mental and cognitive development present from childhood. There are number of pre-natal and post-natal risk factors that can cause ID/MR, but about 50% of all causes are genetic. ID/MR has prevalence of about 2% in the general population. Using standard cytogenetic methods analysis of chromosomes (GTG banding) and molecular genetic analysis for fragile X chromosome reveals only a small number of causes, but the use of new molecular genetic techniques has increased the rate of detection of subtle chromosomal aberrations, as well as the discovery of new candidate genes in etiology of ID/MR. These methods will improve the diagnosis and treatment of patients, as well as genetic counseling of parents.