What is Down Syndrome?

Down Syndrome (DS) is the most common genetic cause of developmental disability currently known. DS is caused by an extra copy of chromosome 21 (Trisomy 21), and is manifested by microcephaly and varying degrees of mental retardation. Compared with IQ-matched controls without DS, individuals with DS have particular problems with language, short term memory, and with changing tasks.

People with DS have a very high incidence of early onset of clinical and neuropathological symptoms associated with Alzheimer disease. Previous structural brain imaging studies have shown that the frontal lobes and cerebellum are disproportionately small in adults with DS. The parietal lobes and the sub-cortical region known as the basal ganglia have been shown to be relatively spared in DS.

Research

Our laboratory is currently analyzing both the structure and function of children with DS. Our ongoing structural imaging work is examining the relative size and tissue proportions of different brain regions between people with and without DS.

Our preliminary findings suggest that people with DS have decreases in the volume of gray and white matter in the frontal lobes and cerebellum. These findings are interesting since the frontal lobes are thought to perform roles in language and memory.

Studies

Functional Neuroimaging of Language and Memory in Down Syndrome.

Studies

Publications