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.

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"Innovative mental Health initiative calls on donors to Ride the Tide", is the title of a short article in the philanthropy special of today's Globe & Mail.
Now that the TIDE project has been successfully up & running for one year it's time to look forward to the years ahead. One important aspect is funding. To secure the continuation of the program in the years ahead we've asked a wonderful group of people to help us to organize an unique and special fundraise event…ideas went back & forth and the outcome is a Car Rally in September 2013 to raise funds for the TIDE program: RIDE the TIDE. Further details will be announced this spring. One thing we know for sure, it promises to be a unique event! More details can be found on the RIDE the TIDE website www.ridethetide.ca.

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Medical post TIDE
The Medical Post has featured a story on TIDE BC in their November issue "Turning the TIDE for children with Intellectual Disability".

"A group of physicians and scientists at BC Children’s Hospital (BCCH) is dramatically shifting the way diagnosis and treatment of intellectual disability is done. Launched in October 2011, the Treatable Intellectual Disability Endeavour in British Columbia (TIDE-BC) program includes new interventional and therapeutic approaches that are taking children with intellectual disability from fully dependent care to being able to participate in and contribute to society.", the article starts.

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During the Canadian Association of Paediatric Health Centres Conference (held in Vancouver Oct 28-31, 2012) TIDE BC presented four posters highlighting several of TIDE’s accomplishments


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TIDE-BC is demonstrating an impact for families. Five-year old Nathan’s life has improved immensely, as has his family’s. At the age of three, suffering from developmental delay, autism and seizures but undiagnosed despite having seen 15 specialists, TIDE-BC first tier testing revealed creatine in Nathan’s urine. He was referred to TIDE-BC at BCCH where he was diagnosed with Creatine Transporter Deficiency, one of the rare yet treatable disorders causing intellectual disability for which the TIDE program promotes active screening.

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tyler
Tyler Murphy is the TIDE-BC research assistant with the Division of Neurology. Using the TIDE protocol on a daily basis, Tyler screens for appropriate neurology patients and enrols them into the TIDE study. Tyler has the opportunity to meet many of the families as he obtains their consent and responds to the many questions families have about TIDE and what it might mean for their children. Tyler is also working with Dr. Clara van Karnebeek and Wynona Giannasi to evaluate the TIDE Complex Diagnostic Clinic, determining the costs and benefits of providing care for complex children using an innovative and collaborative model with multiple departments across BC Children’s. Tyler will be presenting this work on behalf of the TIDE team at the upcoming CAPHC Conference later in October.

On the success of TIDE thus far, Tyler comments, “The collaboration between divisions is very positive. My main work is in neurology and I can see the benefit of the relationships that have been created because of TIDE between Neurology and Biochemical Diseases”. No doubt these positive relationships are helping to bridge clinical care and research – to the benefit of patients and families.
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The TIDE team has led a new collaboration of clinicians and scientists from across Canada, the USA and Europe investigating dietary lysine restriction as a novel treatment in addition to standard pyridoxine therapy for Pyridoxine-Dependent Epilepsy (PDE). The problem that the TIDE set out to solve: Pyridoxine controls seizures but the accumulation of potentially neurotoxic metabolites (biomarkers) continues, causing cognitive impairments and developmental delays in 75% or more of patients. A diet low in lysine can prevent buildup of toxic waste products caused by the enzyme deficiency underlying this metabolic epilepsy. Preliminary study results implemented in 7 children have been published (onlink to the whole PDE article in Mol Genet Metab) and are most encouraging. Dietary lysine restriction in addition to pyridoxine resulted in significant reduction of all damaging biomarkers, with good tolerance and compliance. No adverse events were reported and improvements in age-appropriate skills in 4 out of 5 children were noted and seizure control was maintained or improved in 6 out of 7 children.

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Recently the TIDE team in collaboration with clinicians from across Canada received a catalyst grant from CIHR to investigate the effects of a new drug to improve outcomes in PKU (Phenylketonuria). PKU is the first treatable ID which has made strides since its discovery as a treatable ID in the 1960s to the development of a sophisticated diet low in phenylalanine and worldwide implementation of newborn screening to prevent ID in affected children. So far diet has been the only therapeutic option, which despite its overall effectiveness to prevent severe ID, has its downsides including arduous restriction of dietary protein which is widely replaced by synthetic aminoacid mixtures and expensive low protein food. Sapropterin-hydrochloride (Kuvan®) is the first pharmacologic treatment for PKU, which has the potential to reduce blood phenylalanine levels and allow a more liberal diet for patients. Our research is about describing the various response patterns of this drug in children with PKU. Findings will help to define clinically meaningful outcomes and identify those patients who will realize the most advantage of this costly new drug.

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A collaborative retreat was held in July 2012 to build momentum on existing achievements supporting individualized medicine and complex care within TIDE. Multidisciplinary clinicians and scientists came together representing expertise in methodology, medical anthropology, care management for children with complex neurodevelopment disorders and rare diseases, individualized medicine, communications and lean management practices. Work was presented out of Drs Jean Paul Collet’s, Osman Ipsiroglu’s, Bill McKellin’s and Clara van Karnebeek’s groups. The impetus of this meeting was two-fold: the need for care delivery models to support personalized care for complex children and the desire for enhanced alignment between TIDE projects with personalized care components. The overall goal is to improve care of children with complex needs.

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