Stories about: Department of Neurology

From mice to humans: Genetic syndromes may be key to finding autism treatment

Boy and a mouse eye-to-eye
(Aliaksei Lasevich/stock.adobe.com)

A beautiful, happy little girl, Emma is the apple of her parents’ eyes and adored by her older sister. The only aspect of her day that is different from any other 6-month-old’s is the medicine she receives twice a day as part of a clinical trial for tuberous sclerosis complex (TSC).

Emma’s mother was just 20 weeks pregnant when she first heard the words “tuberous sclerosis,” a rare genetic condition that causes tumors to grow in various organs of the body. Prenatal imaging showed multiple benign tumors in Emma’s heart.

Emma displays no symptoms of her disease, except for random “spikes” on her electroencephalogram (EEG) picked up by her doctors at Boston Children’s Hospital. The medication she is receiving is part of the Preventing Epilepsy Using Vigabatrin in Infants with TSC (PREVeNT) trial. Her mother desperately hopes it is the active antiepileptic drug, vigabatrin, rather than placebo.

Read Full Story | Leave a Comment

Arsenic and neural tube defects: Lessons from Bangladesh?

arsenic neural tube defects

Spina bifida and other neural tube defects have become fairly rare in the United States, thanks in part to folic acid added to foods and campaigns to get childbearing women to take folic acid. But in Bangladesh, spina bifida is a common occurrence on maternity wards; in fact, it is considered to be epidemic.

“No surveillance is done, so it’s not clear how many cases there are,” says Maitreyi Mazumdar, MD, MPH, a neurologist at Boston Children’s Hospital who conducts environmental health research. “Children may die in delivery, or they may die before seeing a surgeon.”

Although folic acid supplementation isn’t widespread in Bangladesh, Mazumdar thinks there is another factor in play: the country’s ongoing epidemic of arsenic poisoning.

Read Full Story | Leave a Comment