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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When Jake was just eight months old he crawled off the blanket where his mother, Tanja, had put him and began rubbing his forehead on the carpet. He continued to rub his forehead even when it became raw and bloody. This was when Tanja first suspected something was wrong with her son. The self-injuring behaviour worsened so severely that by the age of seven years Jake went to live in a specially designed care home: he was self-injuring thousands of times a day.

Although Jake had been diagnosed with Autism at the age of eighteen months, his parents questioned the diagnosis - they didn’t see that type of behaviour in other autistic children. So they continued to search for answers. Their diagnostic odyssey would last over sixteen years, until clinician-researchers at TIDE-BC, determined that Jake has an extremely rare PAK3 genetic mutation.



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