Part of getting a correct diagnosis in a child is doing the proper blood work. Childhood-onset schizophrenia spectrum disorders are exceedingly rare, and one doesn’t go about diagnosing them willy-nilly. We are fortunate to live near a large research university with a medical school. Within this university is a program that does research around psychotic disorders in children. The psychiatrist that heads up that program will be Grace’s psychiatrist starting in March 2013, and one of her colleagues was Grace’s treating psychiatrist during her most recent stay at a partial-hospitalization program (PHP). When Grace was admitted to the PHP, the first thing he did was order the following:
- The Psychosis Labs: these check for syphilis, high levels of lead and copper, thyroid function, folate, B12, kidney function, blood alcohol, and a chemistry panel. This blood work is important because there might be another reason for psychosis other than schizophrenia like poor kidney function, syphilis, or high copper levels in the blood. It’s a good way to rule out schizophrenia or diagnose it properly.
- A chromosomal study looking for the 22q11.2 deletion which is one of the primary causes of schizophrenia in the general population. It’s largely academic, but if your child does have the deletion, then there are likely other problems present. This deletion is commonly known as DiGeorge Syndrome.
The other thing that should be done is a complete neuropsychological profile. Executive planning problems go hand-in-hand with schizophrenia spectrum disorders, and this would show up on a neuropsychological profile. Fortunately, Grace had already undergone a neuropsychological profile in April 2012, and she did, in fact, have significant deficits in executive function. Her working memory is in the 3rd percentile. With this information, her doctors were much more confident in diagnosing her with something as burdensome and lifelong as Schizoaffective Disorder-bipolar type.
Grace has been tested for a mitochondrial disorder so there were some basic mitochondrial tests run including coQ10, choline, lactic acid, and a few others. A few of her results were on the low side. There are, however, numerous types of mitochondrial disorders, and it’s hard to test for all of them simply by blood test. As it stands, I suspect that Grace might indeed have a mitochondrial disorder as her presentation is simply too complex. So, if your child presents with a neurogenerative disease before or at the age of around ten, consider getting mitochondrial testing because neurodegeneration is a part of the class of these disorders.