Genetic testing in patients with global developmental delay/intellectual disabilities. A review

Authors

  • Diana Miclea
  • Loredana Peca
  • Zina Cuzmici
  • Ioan Victor Pop

DOI:

https://doi.org/10.15386/cjmed-461

Keywords:

global developmental delay, intellectual disabilities, genetic testing, CGH array, X fragile syndrome

Abstract

Genetic factors are responsible for up to 40 % developmental disability cases, such as global developmental delay/ intellectual disability (GDD/DI). The American and more recently, the European guidelines on this group of diseases state that genetic testing is essential and should become a standardized diagnostic practice. The main arguments for the necessity of implementing such a practice are: (1) the high prevalence of developmental disabilities (3% of the population); (2) the high genetic contribution to this type of pathology; (3) insufficient referral for genetic consultation. In an attempt to address these issues, the purpose of this paper is to present the genetic etiology of global developmental delay / intellectual disability with emphasis on the need to implement a genetic testing protocol for the patients with GDD/DI, as indicated by the current guidelines. Chromosomal abnormalities and fragile X syndrome are the most frequent causes of developmental disabilities and the techniques employed to detect such genetic disorders should be used as first line investigations of GDD/DI.

 

Author Biographies

Diana Miclea, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca

Department of Molecular Sciences, Medical Genetics

Loredana Peca, "Babes-Bolyai" University, Cluj-Napoca

Faculty of Psychology and Educational Sciences

Zina Cuzmici, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca

Department of Molecular Sciences, Medical Genetics

Ioan Victor Pop, "Iuliu Hatieganu" University of Medicine and Pharmacy, Cluj-Napoca

Department of Molecular Sciences, Medical Genetics

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Published

2015-07-22

How to Cite

1.
Miclea D, Peca L, Cuzmici Z, Pop IV. Genetic testing in patients with global developmental delay/intellectual disabilities. A review. Med Pharm Rep [Internet]. 2015 Jul. 22 [cited 2025 Oct. 5];88(3):288-92. Available from: https://medpharmareports.com/index.php/mpr/article/view/461

Issue

Section

Reviews