New diagnostic protocol for intellectual disability

Issue: BCMJ, vol. 53, No. 6, July August 2011, Page 293 News

BC Children’s Hospital is launching a new clinical research program that promises to change the medical paradigm for diagnosing and treating intellectual disability in children. 

The program, called “Treatable Intellectual Disability Endeavour in BC (TIDE-BC),” features a diagnostic protocol of specific lab tests to identify all children in BC who have a treatable form of intellectual disability that’s caused by a class of rare metabolic diseases. 

Early diagnosis and therapy for children who have treatable intellectual disability can significantly im­prove their development and their future as adults.

The BCCH research team review­ed the medical literature and found 75 types of inborn errors of metabolism that feature treatable intellectual disability. Accompanying symptoms can include behavioral issues, seizures, and organ problems. 

It is estimated that existing treatments could help up to 50 of the 1000 children with intellectual disability of all causes who are assessed each year at BCCH, significantly improving their outcomes. 

The current standard for diagnosing children with intellectual disability is to analyze their chromosomes, but this reveals genetic disorders that are not treatable and misses children with treatable intellectual disability.

In the first year of implementing TIDE-BC, the new protocol will be piloted with 400 children. In the second and third years, all children who present with intellectual disability at BC Children’s Hospital will be diagnosed using the new protocol. 

Visit for more information.

. New diagnostic protocol for intellectual disability. BCMJ, Vol. 53, No. 6, July, August, 2011, Page(s) 293 - News.

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