Anomalous sylvian fissure morphology in Williams syndrome

Eckert, Mark A.; Galaburda, Albert M.; Karchemskiy, Asya; Liang, Alyssa; Thompson, Paul M.; Dutton, Rebecca A.; Lee, Agatha D.; Bellugi, Ursula; Korenberg, Julie R.; Mills, Debra L.; Rose, Fredric E.; Reiss, Allan L.

doi:10.1016/j.neuroimage.2006.05.062

Cited by 59 publications

(58 citation statements)

References 46 publications

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“…Our findings also have implications for human cognitive disorders. For example, recent findings suggest a link between the sizes of cortical areas located in the planum temporale of the cerebral cortex with the developmental cognitive disorder Williams syndrome (10).…”

Section: Discussionmentioning

confidence: 99%

Cortical area size dictates performance at modality-specific behaviors

Leingärtner

Thuret

Kroll

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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The mammalian neocortex is organized into unique areas that serve functions such as sensory perception and modality-specific behaviors. The sizes of primary cortical areas vary across species, and also within a species, raising the question of whether area size dictates behavioral performance. We show that adult mice genetically engineered to overexpress the transcription factor EMX2 in embryonic cortical progenitor cells, resulting in reductions in sizes of somatosensory and motor areas, exhibit significant deficiencies at tactile and motor behaviors. Even increasing the size of sensorimotor areas by decreasing cortical EMX2 levels can lead to diminished sensorimotor behaviors. Genetic crosses that retain ectopic Emx2 transgene expression subcortically but restore cortical Emx2 expression to wild-type levels also restore cortical areas to wild-type sizes and in parallel restore tactile and motor behaviors to wild-type performance. These findings show that area size can dictate performance at modality-specific behaviors and suggest that areas have an optimal size, influenced by parameters of its neural system, for maximum behavioral performance. This study underscores the importance of establishing during embryonic development appropriate levels of regulatory proteins that determine area sizes, thereby influencing behavior later in life.cortex ͉ EMX2 ͉ sensorimotor performance ͉ cortical area patterning ͉ somatosensory cortex T he mammalian neocortex is tangentially organized into areas that serve unique functions such as sensory perception and modality-specific behaviors. In humans, the primary areas, motor (M1), somatosensory (S1), and visual (V1), vary Ϸ2-fold in size in a smooth continuum (1-5). In mice, the sizes of V1 and the S1 barrelfield are very consistent within inbred strains of mice, but their mean sizes can differ between some inbred strains of mice (6).These observations raise the question of whether the size of a cortical area influences behavioral performance. Normal humans exhibit significant differences in proficiency at visual psychophysical tasks (7), but these differences have not been correlated to differences in area size. Complementing these findings are studies of adult cortical plasticity. For example, repetitive use of a digit, or microstimulation of its cortical representation, results in an enlarged functional representation in M1 and S1 resulting in an increased overlap with functional representations of adjacent digits. These enlargements, which are evident physiologically but not anatomically, do not extend across area borders, do not increase area size, and have not been shown to affect systems-level behavior (8, 9).Here we address whether differences in cortical area size influence modality-specific behaviors in adults by using genetic manipulations that act during embryonic development to alter cortical area size in a consistent, reproducible manner. Establishing a relationship between area size and behavioral performance could be predictive for behavioral differences between ...

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Section: Discussionmentioning

confidence: 99%

Cortical area size dictates performance at modality-specific behaviors

Leingärtner

Thuret

Kroll

et al. 2007

Proc. Natl. Acad. Sci. U.S.A.

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“…Oral language 110 (18) 113 ( Normal range for all aspects of testing is 85-115 for the general population. EMO, early-onset morbid obesity; GIA, general intellectual ability; PWS, Prader-Willi syndrome (PWS-D, PWS due to paternal deletion and PWS-UPD, PWS due to maternal disomy); sibs, sibling controls.…”

Section: Sylvian Fissure/insula Closurementioning

confidence: 99%

“…16 Sylvian fissure morphology influences the size and shape of the temporal and parietal cortex and has been associated with differences in phonologic and auditory processing. 17,18 One component of the sylvian fissure, the planum temporale, may play a role in both visual and auditory language comprehension. 19 Previous studies have found that the planum temporale is larger in the left hemispheres of 68%-78% of individuals from a normal population.…”

mentioning

confidence: 99%

“…19 Previous studies have found that the planum temporale is larger in the left hemispheres of 68%-78% of individuals from a normal population. 18,20,21 The planum parietale, which is the posterior part of the sylvian fissure, tends to be larger in the right hemisphere than the left. 22,23 Although the clinical significance of these asymmetries is controversial, 24 a previous study found a lack of this asymmetry in four individuals with PWS, suggesting that some of the speech and language abnormalities in this syndrome may be associated with structural brain differences.…”

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confidence: 99%

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Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity

Miller

Couch²,

Leonard

et al. 2007

Genetics in Medicine

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Purpose: Prader-Willi syndrome is a well-defined genetic cause of childhood-onset obesity that can serve as a model for investigating early-onset childhood obesity. Individuals with Prader-Willi syndrome have speech and language impairments, suggesting possible involvement of the perisylvian region of the brain. Clinical observations suggest that many individuals with early-onset morbid obesity have similar speech/language deficits, indicating possible perisylvian involvement in these children as well. We hypothesized that similar perisylvian abnormalities may exist in both disorders. Methods: Participants included individuals with Prader-Willi syndrome (n ϭ 27), their siblings (n ϭ 16), individuals with early-onset morbid obesity (n ϭ 13), and their siblings (n ϭ 10). Quantitative and qualitative assessments of sylvian fissure conformation, insula closure, and planum temporale length were performed blind to hemisphere and diagnosis.

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“…Given that this peak occurred around 200ms when phonological information is accessed, and given that this peak was absent in control children and adults, these data suggest that children with WS might process phonological information in an atypical way. More generally, structural neuroanatomical findings suggest an abnormally increased or absent asymetry of left and right superior temporal regions including the primary auditory cortex (Eckert et al, 2006;Galaburda & Bellugi, 2000;Hickok et al, 1995). All these behavioural and neuroimaging findings raise the question whether individuals with WS perceive speech sounds in the same way as do typically developing children and adults.…”

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confidence: 99%

Evidence for atypical categorical speech perception in Williams syndrome

Majerus

Poncelet

Bérault

et al. 2011

Journal of Neurolinguistics

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Although language processing has been described as being a relatively "spared" cognitive function in individuals presenting with Williams syndrome (7q11.23 microdeletion; WS), some studies suggest possible alterations at the level of input speech processing. We explored categorical speech perception and non-speech auditory perception in six participants with WS, as well as in chronological age-matched or reading age-matched control groups. Categorical speech perception was explored for the b-d speech sound continuum, where speech sounds vary in spectral acoustic features, and for the d-t speech sound continuum, where speech sounds vary in temporal acoustic features. Non-speech perception was explored for sine-wave analogues of the "b-d" continuum, which are not identified as speech stimuli. We observed a significantly increased ability in WS participants to detect subtle acoustic changes between adjacent stimuli of the b-d or the d-t continuum outside the phoneme boundary, when control participants showed absence of discrimination. This is the first study to provide evidence for an atypical sensitivity towards subtle acoustic variations during speech and non-speech auditory analysis in WS. Implications for phonological processing and reading acquisition are discussed. words3

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Anomalous sylvian fissure morphology in Williams syndrome

Cited by 59 publications

References 46 publications

Cortical area size dictates performance at modality-specific behaviors

Cortical area size dictates performance at modality-specific behaviors

Sylvian fissure morphology in Prader-Willi syndrome and early-onset morbid obesity

Evidence for atypical categorical speech perception in Williams syndrome

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