Yield of Routine Fragile-x Screen In Children with Autism, Is It Cost Effective?

Background:

As the prevalence of autism increases world wide, approach of professional communities to deal with it is not the same, especially the medical part where resources are not the same and it would be critical to allocate them efficiently. When it comes to investigations physicians vary on the tests and procedure the do. In this paper we will present  our data of fragile-x testing  as routine study for children with autism, and  discuss the findings as compare to the international literature.

Objectives:

This article aims find out if routine  fragile–x screen is cost effective as  services test for all children diagnosed with autism? And to see what of kind of autistic children most likely to have a positive fragile x screen?

Methods:

We reviewed medical records for all children diagnosed with autism through King Fahd Medical City, Children Hospital autism clinical program between 2008-2010 where referred children are assessed by multidisciplinary team(developmental behavioral pediatrician, PhD clinical psychologist, speech pathologist and social worker), all children had detailed clinical assessment using DSMIV criteria plus, CARS, IQ, chromosomal karyo-typing and hearing assessment, most of them had fragile-x screen. With simple  analysis we look for how may came positive for fragile-x screen and what is their phenotype.

 

Results:

266 children where diagnosed with autism, 194 had fragile x screen (available results of tests till Dec,2010) 4 had positive fragile-x testing (2%),  100% of those with positive fragile-x test had  clinical features of fragile-x syndrome.

 

Conclusions:

In the absence of clinical features of fragile-x syndrome doing routine fragile-x screen is not cost effective for clinical service, this may not be applicable for research programs.