Cerebral and cerebellar MRI volumes in Williams syndrome.
In Williams syndrome, the cerebellum is extra-large while cerebral white matter is scarce—factor this in when you judge motor or language performance.
01Research in Context
What this study did
Oliveira et al. (2014) scanned the brains of 30 people with Williams syndrome. They measured the size of the cerebellum and the cerebral white matter.
All scans were done on a 3-Tesla MRI machine. The team compared each brain part to total brain size.
What they found
The cerebellum was larger than expected for overall brain size. Cerebral white matter was smaller than expected.
The difference was big enough to see in every participant.
How this fits with other research
Eussen et al. (2016) later grouped this MRI study with 30 others in a big review. The review shows the field now sees the big cerebellum as a reliable marker.
Farmer-Dougan et al. (1999) found strong face and language skills in one WS twin. The spared cerebellum may help explain those spared skills.
Jones et al. (2010) saw visual brain areas light up to sound. Both studies point to unusual wiring, but Ana et al. give the structural reason.
Why it matters
When you test motor or language skills, remember the cerebellum is bigger than it should be. A "low average" score may actually be strong for this brain size. Use the MRI clue to set realistic goals and to explain strengths to families.
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02At a glance
03Original abstract
Individuals with Williams syndrome (WS) present a set of cognitive, affective and motor symptoms that resemble those of patients with lesions to the cerebellum. Although there is some evidence for overall structural alterations in this brain region in WS, explorations on cerebellar white matter and cerebellar cortex volumes remain rather neglected. We aimed to compare absolute and relative cerebellar volumes, as well as patterns of white matter to cortex volumes in this brain region, between a group of individuals with WS and a group of healthy controls. T1-weighted magnetic resonance images were acquired in 17 individuals with WS and in 15 typically developing individuals. Our results showed that even though individuals from the clinical group had significantly smaller cerebrums (and cerebellums), cerebellar volumes relative to intracranial volumes were significantly enlarged. In addition, while gray matter was relatively spared and white matter disproportionately reduced in the cerebrum in WS, relative cerebellar cortex and white matter volumes were preserved. These findings support the hypothesis that volume alterations in the cerebellum are associated with the cognitive, affective and motor profiles in WS.
Research in developmental disabilities, 2014 · doi:10.1016/j.ridd.2013.12.014