Evolution of Neurologic Features in Williams Syndrome

Gagliardi, Chiara; Martelli, S.; Burt, D. M.; Borgatti, Renato

doi:10.1016/j.pediatrneurol.2007.01.001

Cited by 45 publications

(39 citation statements)

References 31 publications

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“…While mild motor symptoms have been noted in the literature [47, 48], it has not been until recently that quantitative studies of motor signs and symptoms in WS have been published. Gagliardi et al [49] reported the existence of cerebellar, pyramidal, and extrapyramidal signs that varied in distribution according to age. Hocking et al [50] studied abnormal gait characteristics in adults with WS and suggested that basal ganglia dysfunction and visuomotor deficits may be involved.…”

Section: Discussionmentioning

confidence: 99%

Alterations in diffusion properties of white matter in Williams syndrome

Arlinghaus

Thornton‐Wells

Dykens

et al. 2011

Magnetic Resonance Imaging

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Diffusion tensor imaging (DTI) was used to investigate the involvement of brain white matter in Williams syndrome (WS), a genetic neurodevelopmental disorder. Whole-brain DTIs were obtained from 16 young adults with WS and 16 normal controls. A voxel-based analysis was performed to compare fractional anisotropy (FA) values between the two groups. A tract-based analysis was also performed to compare FA values between the two groups along two major white matter tracts that pass through the external capsule: the uncinate and inferior fronto-occipital fasciculi. Several regions of both increased and decreased FA were found within major white matter tracts that connect functional regions that have previously been implicated in the cognitive and neurological symptoms of the syndrome. The tract-based analysis provided additional insight into the involvement of specific white matter tracts implicated in the voxel-based analysis within the external capsule. The results from this study support previously reported changes in white matter diffusion properties in WS and demonstrate the potential usefulness for tract-based analysis in future studies of the disorder.

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Section: Discussionmentioning

confidence: 99%

Alterations in diffusion properties of white matter in Williams syndrome

Arlinghaus

Thornton‐Wells

Dykens

et al. 2011

Magnetic Resonance Imaging

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“…Hyperreflexia of the lower extremities typically develops in childhood; there is central hypotonia and peripheral hypertonia. Cerebellar signs found in children and adults include intention tremor, dysmetria, dysdiadokinesis, and ataxia [Chapman et al, 1996;Pober and Szekely, 1999;Gagliardi et al, 2007]. These abnormalities result in difficulties with balance, proprioception, tool use, and motor planning .…”

Section: Central Neurologic Signs and Neuroanatomymentioning

confidence: 99%

The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment

Morris

2010

American J of Med Genetics Pt C

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Williams syndrome (WS), caused by hemizygous deletion of 1.55-1.8 Mb of chromosome 7q11.23, has a recognizable behavior phenotype that is an important diagnostic sign. Individuals with WS are overly friendly, gregarious, empathetic, and loquacious, but have difficulty interpreting social cues and in making and keeping friends. The neurodevelopmental profile is characterized by overall intellectual disability, strength in concrete language, weakness in visuospatial construction, difficulties with sensory modulation, balance, and tool use, and problems with attention and anxiety. Structural and functional MRI studies demonstrate that gray matter deficiency in the intraparietal sulcus alters processing of spatial information in the dorsal stream (spatial) visual pathway, likely contributing to the visuospatial construction disability. Deficient regulation of the amygdala by the oribitofrontal cortex appears to underlie both the social disinhibition and the specific phobia common in WS. Continued study of cognition, behavior, neuroanatomy, and function in WS will continue to elucidate the neurogenetic underpinnings of human behavior.

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“…Decreased muscle tone seems to be present from an early age. Motor dysfunction, clumsiness and deficits in motor coordination have been common findings (Trauner et al ; Elliott et al ; Gagliardi et al ). Regarding gross motor function, altered gait and difficulties in the adaptation of walking and stair descent have been found (Hocking et al ; Hocking et al ; Cowie et al ).…”

Section: Introductionmentioning

confidence: 99%

Capacity to improve fine motor skills in Williams syndrome

Berencsi

Gombos

Kovács

2016

J intellect Disabil Res

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Background Individuals with Williams syndrome (WS) are known to have difficulties in carrying out fine motor movements; however, a detailed behavioural profile of WS in this domain is still missing. It is also unknown how great the capacity to improve these skills with focused and extensive practice is. Method We studied initial performance and learning capacity in a sequential finger tapping (FT) task in WS and in typical development. Improvement in the FT task has been shown to be sleep dependent. WS subjects participating in the current study have also participated in earlier polysomnography studies, although not directly related to learning. Results WS participants presented with great individual variability. In addition to generally poor initial performance, learning capacity was also greatly limited in WS. We found indications that reduced sleep efficiency might contribute to this limitation. Conclusions Estimating motor learning capacity and the depth of sleep disorder in a larger sample of WS individuals might reveal important relationships between sleep and learning, and contribute to

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Evolution of Neurologic Features in Williams Syndrome

Cited by 45 publications

References 31 publications

Alterations in diffusion properties of white matter in Williams syndrome

Alterations in diffusion properties of white matter in Williams syndrome

The behavioral phenotype of Williams syndrome: A recognizable pattern of neurodevelopment

Capacity to improve fine motor skills in Williams syndrome

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