Exome sequencing and the management of neurometabolic disorders” , download article here

The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource, download article here.


In our second newsletter of 2013, we focus on the value of collaborative medicine to provide individualized patient care. Initiatives such as the TIDE Complex Diagnostic Clinic (TCDC), unite the expertise of over 25 clinical and laboratory specialists to provide a causal diagnosis for children with complex neurologic conditions who remain a mystery despite endless clinic visits and the “million dollar” work up. The TCDC is meticulously prepared and run: during one morning, 3 to 4 patients are each evaluated by several specialists, who participate in the clinic on a rotational basis. The children’s cases are then discussed during multidisciplinary rounds to formulate a differential diagnosis and plan for investigations.

In a manuscript recently submitted by the TCDC team for publication in the journal Genetics in Medicine, we report our experience with 7 clinics held over the first 16 months since its establishment in 2011. For the 24 children assessed in these clinics (seen by up to 10 specialist services prior to the TCDC), the diagnostic yield was higher than expected with confirmed and working diagnoses in 9 (38%) and 11 (46%) children respectively. Costs savings resulted from fewer trips to the hospital and fewer tests resulting from more streamlined evaluations.

Positive feedback was received from families and medical professionals alike. One mother notes “Understanding the gene that is responsible for my son’s condition, as a result of coming to the Clinic, is a huge relief. I can finally stop blaming myself for something I may have done while I was pregnant.”
Quotes from participating specialists include: “It would have taken many months to get an opinion from each specialist. In the Complex Clinic, after a few hours, there is a good plan.” And, “We are collectively making diagnoses that we would likely not otherwise have been able to do working alone.