Turning the tide on intellectual disability: A new approach to diagnosis

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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 B.C. (TIDE-BC)”, features a diagnostic protocol of specific lab tests to identify all children in B.C. who have a treatable form of intellectual disability that’s caused by a class of rare metabolic diseases.

Diagnosing children who have treatable intellectual disability early in their lives and providing them with therapy – such as diet, medication or, in some rare cases, stem cell transplantation – as soon as possible can significantly improve their development and their future as adults.

“Time is brain. The earlier you identify and stabilize a child’s condition, the better the child’s long-term outcomes. It could mean the difference, as an adult, between living in a protected environment where someone can work versus being physically handicapped and needing total care,” says Dr. Sylvia Stöckler-Ipsiroglu, who is leading TIDE-BC. Dr. Stöckler-Ipsiroglu is program director of Biochemical Diseases at BC Children’s Hospital, an agency of the Provincial Health Services Authority (PHSA) and is project leader of TIDE-BC.

“This project promises to be profoundly life-changing for children in British Columbia who have a treatable intellectual disability. It has the potential to change practice around the world,” says Larry Gold, President of BC Children’s Hospital and Sunny Hill Health Centre for Children.

Dr. Stöckler-Ipsiroglu’s team reviewed the medical literature and found 75 types of “inborn errors of metabolism” – a kind of rare genetic disease where the body’s biochemistry and metabolism are altered – that feature treatable intellectual disability. Accompanying symptoms can include behavioural issues, seizures, and organ problems.

Each year, approximately 1000 children with intellectual disability of all causes are assessed at BC Children’s Hospital. Dr. Stöckler-Ipsiroglu estimates that in up to 50 of these children, treatments exist that directly tackle the reason for their intellectual disability and therefore can significantly improve 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. Although this information is critical for guiding educational interventions to maximize the children’s life opportunities, this approach to diagnosis 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.

The TIDE-BC team has developed a website, www.tidebc.org, and will create an iPad app to guide physicians through the diagnostic protocol to find the specific lab test that’s best for each patient.

Although many of the children screened on the new protocol won’t have a treatable intellectual disability, they will benefit from referral to Complex Care Clinics, which provide treatment and care for the most complex intellectual disability cases. The TIDE-BC team will create a database of these children’s symptoms and do genetic screening to discover new genes that cause intellectual disability.

The TIDE-BC team will form a Rare Disorders Clinical Research unit and they’ll lead international clinical treatment trials. Often, it is difficult to conduct evidence-based research without national and international collaborations because of the small numbers of a particular disability in a single province. They will also engage medical and advocacy groups in a new understanding of treatable intellectual disability.

TIDE-BC is the result of an internal funding competition that BC Children’s Hospital launched in September 2010 to create a “Collaborative Area of Innovation” that promotes new and unique collaborations between researchers and clinicians to bring breakthrough advances to children’s health within a two-year time frame.

In the competition’s first stage, 19 teams submitted letters of intent for review by an external scientific advisory panel who recommended a shortlist. In the second stage, three teams were invited to present full proposals for evaluation by expert peer review committees. The scientific panel reviewed the expert evaluations and assessed each proposal’s potential impact on child health.

The TIDE-BC team will receive up to $2.25 million over the next five years, with funding from

BC Children’s Hospital Foundation, to implement the program.