HHMI: HOW HAS TALKING WITH PATIENTS INFORMED YOUR RESEARCH?

CAW: The best example is in people with PH, most of whom have normal intelligence and can function well, except that many have a seizure disorder. In our clinic, one after another of these patients have told us that they suffer from dyslexia. Ten of 12 PH patients we’ve tested have reading scores remarkably lower than their general IQ scores would indicate.

Interestingly, further study has shown that they have a distinctive subtype of dyslexia. People with typical dyslexia have trouble deciphering sounds into syllables. By contrast, those with PH have a general defect that reduces the speed at which they can process information. Reading is the hardest thing the human brain does—it is the last developmental milestone that kids reach—and this probably explains why these patients will have specific reading difficulties. Now the question is, how does this form of dyslexia relate to the functional architecture of the cerebral cortex?

Another example is schizencephaly, which is a cleft or slit in the brain. Through a study of about 50 kids with this disorder, we found that a huge number of them either had very young mothers or were adopted. It’s a fact that adopted children tend to have young birth mothers too. So we think this condition is probably not genetic, because the frequency of genetic disorders increases with the age of the mother. Instead, schizencephaly may result from a blood-flow problem during pregnancy, possibly caused by exposure to infections, drugs, or toxins.

Sitting down and taking a history helps you recognize things more readily than if you just read about [a disorder]. And what we learn gives us ideas for scientific studies.

HHMI: HAS WORKING WITH THESE FAMILIES AFFECTED YOU IN OTHER WAYS?

CAW: Although some patients are almost completely normal, we also see families with severely handicapped children. Having a child with a serious brain disorder becomes the defining event for that family; it completely envelops them. As a parent with two healthy kids, I feel incredibly fortunate and blessed. It never ceases to impress me how resilient these families are, which inspires me to do everything I can to help them.

Christopher Walsh is an HHMI investigator at Harvard Medical School and Beth Israel Deaconess Medical Center, and Children’s Hospital Boston.

Interview by Julie Corliss

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