The British Journal of Developmental Disabilities

Vol. 49, Part 1, JANUARY 2003, No. 96, pp. 29-44

View PDF File

MENTAL RETARDATION: A REVIEW OF THE GENETIC CAUSES

Birgitta Winnepenninckx, Liesbeth Rooms and R. Frank Kooy

Summary

Mental retardation, defined by an intelligence quotient (IQ) below 70, is the most frequent cause of serious handicap in children and young adults with an estimated prevalence up to 3% of the population. The handicap may be mild to severe and may occur either as an isolated phenomenon or in the company of other maladies. Yet, as the handicap interferes with the performance of essential skills at each age, the impact of mental retardation on patient’s life and his environment is always dramatic. Therefore, mental retardation is one of the more important topics in medical science. The current paper summarises the advances made in unravelling the genetic causes of mental retardation, estimated to be responsible for 50% of all cases, and issues on the current diagnostic and therapeutic possibilities.

 

Birgitta Winnepenninckx, Ph.D.

Postdoctoral Fellow, Department of Medical Genetics, University of Antwerp, Universiteitsplein

1, 2610 Antwerp, Belgium

Liesbeth Rooms, M.Sc.

Ph.D. Student, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1,

2610 Antwerp, Belgium

*R. Frank Kooy, Ph.D.

Senior Lecturer, Department of Medical Genetics, University of Antwerp, Universiteitsplein 1,

2610 Antwerp, Belgium

Tel: +32 (0)3 8202630 Fax: +32 (0)3 8202566 E-mail: frank.kooy@ua.ac.be

* For Correspondence