Etiology and Genetics Basis of Intellectual Disability in the Pediatrics population
Etiology and Genetics Basis of Intellectual Disability in the Pediatrics population
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  • Year :
    2017
  • Category :
    Studies and Researches
  • Issuer :
    South Eastern European Medical Journal
  • Language :
    English
  • File :
  • Language :
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This study is discussing the Intellectual disability/mental retardation, and it is defining (ID/MR) as incomplete mental and cognitive development present before the age of 18. There are number of pre-natal and post-natal risk factors that can cause ID/MR but 25 %-50 % of all have genetic causes. In the general population, the prevalence of ID/MR is about 2 %-3 %. Use of standard cytogenetic methods analysis of chromosomes (GTG banding) and FISH (Fluorescent in Situ Hybridization) reveals only a small number of causes, but when using new molecular genetics techniques (like chromosomal microarray and next generation sequencing), the rate of causes of ID/MR is increased and new candidate genes for ID/MR have been discovered. Establishing a diagnosis of ID/MR is important for the patient and it provides genetic counseling for parents