Johns Hopkins has received a five-year $1.7 million
grant from the National Institutes of Health to support
research into the cognitive problems experienced by people
with a rare genetic disorder known as Williams syndrome.
Barbara Landau, a professor of
will be principal investigator. The grant, from NIH's
National Institute of Neurological Disorders and Stroke,
will fund her team's investigation of the origins of
spatial impairments suffered by people with Williams. Those
people have difficulty with tasks such as assembling simple
puzzles, copying basic patterns and navigating their bodies
through the physical world.
"We are specifically looking into the hypothesis that
certain areas of the brain — the parietal regions, in
particular — are the key to those deficits," said
Landau, the Dick and Lydia Todd Professor in the Department
of Cognitive Science in the Krieger School of Arts and
Williams syndrome, caused when a small amount of
genetic material is missing from one human chromosome,
occurs in approximately one of every 20,000 live births.
The parietal regions are the lobes in each cerebral
hemisphere of the brain that lie between the rear, called
the occipital, and the frontal lobes.
"Our work is primarily experimental," Landau said,
"and our experiments will ask whether certain kinds of
spatial tasks — those that are thought to involve
parietal regions — show significant breakdown in
people with Williams, compared with other kinds of spatial
tasks that involve different regions of the brain."
The researchers will test individuals with Williams
syndrome who are between 8 and 15 years old, as well as
adults, to ascertain whether the spatial deficits will
resolve in adulthood, though Landau hypothesizes that they
"Another part of our hypothesis is that the unusual
spatial profile we see in people with Williams syndrome
— what have been called 'peaks and valleys,' or an
uneven profile of spatial abilities — is similar to
what we would see among young, normally developing
children," Landau said.
"In our past work, we have seen great similarities
between children and adults with Williams syndrome and
normal children of about 4 or 5. The idea is that normal
children then go on to develop these spatial abilities more
fully, whereas people with Williams syndrome stop at about
the functional level of a 4- or 5-year-old," she said.
"Perhaps the most important part of our research will ask
whether there are ways to promote learning and development
past this level in people with Williams syndrome."
The grant will fund a research assistant, graduate and
undergraduate students and compensation for the families of
individuals who participate in the experiments.
Landau's research also is supported by the March of
Dimes Foundation, which continues to fund her work on
language in people with Williams syndrome. Individuals with
Williams are quite competent verbally, especially when
those abilities are contrasted with the severe spatial
impairment seen in this syndrome.