Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder

@article{Kaplan2001WilliamsB,
  title={Williams (Williams Beuren) Syndrome: A Distinct Neurobehavioral Disorder},
  author={P. Kaplan and P. Wang and U. Francke},
  journal={Journal of Child Neurology},
  year={2001},
  volume={16},
  pages={177 - 190}
}
Whether genetic or environmental influences predominate in defining thought, behavior, and physical appearance is often emotionally debated. Williams syndrome (Williams Beuren syndrome), an uncommon congenital disorder caused by deletions of multiple contiguous genes on the long arm of one chromosome 7 (del 7q11.23),’ is providing many insights. Individuals with Williams Beuren syndrome have a distinctive pattern of mental retardation, personality, and behavior, as well as a subtle but… Expand
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References

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Hyperacusis in Williams syndrome: a sample survey study.
TLDR
The present study reports the results of an investigation into the occurrence of hyperacusis, otitis media and hyperactivity in a large group of Dutch speaking subjects with Williams syndrome from Belgium and The Netherlands. Expand
Natural history of Williams syndrome: physical characteristics.
TLDR
A growth pattern characterized by delay in the first 4 years of life, catch-up growth in childhood, and low ultimate adult height was found, indicating Williams syndrome is a progressive disorder with multisystem involvement. Expand
Sudden death in Williams syndrome: report of ten cases.
TLDR
It is suggested that sudden death is a more common complication than has been assumed previously and strategies for monitoring patients with WS should be developed in an attempt to identify those at increased risk of sudden death. Expand
Language, communication, and neural systems in Williams syndrome
Purpose Williams syndrome, a rare, genetically based disorder, results in a distinctive facies, a specific heart defect, mental retardation, but remarkably spared language. We discuss results of aExpand
Neurologic features of Williams and Down syndromes.
TLDR
On neurologic testing, Williams syndrome patients had greater difficulty with gross and fine motor coordination, oromotor skills, and cerebellar function than did those with Down syndrome, suggesting an underlying metabolic defect in Williams syndrome. Expand
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes.
TLDR
Genetic and psychometric testing of patients who have small deletions within the Williams syndrome critical region suggest that neither LIMK1 hemizygosity nor STX1A hemIZygosity is likely to contribute to any part of the WS phenotype, and they emphasize the importance of such patients for dissecting subtle but highly penetrant phenotypes. Expand
Neurologic Findings in Children and Adults With Williams Syndrome
Twenty-four children with Williams syndrome underwent systematic neurologic evaluations. Abnormalities of mental status, motor coordination, tone, and gait were most prevalent. Tone abnormalitiesExpand
Cerebral morphologic distinctions between Williams and Down syndromes.
TLDR
The results suggest that some frontal and temporal limbic structures are relatively preserved in WS, while some basal ganglia and diencephalic structure are relatively preservation in DS. Expand
Behavioral and emotional disturbance in individuals with Williams syndrome.
TLDR
It is suggested that there is a valid behavior phenotype of Williams syndrome and this is frequently associated with sufficient impairment to consider inclusion of the behavior phenotype in future official taxonomies of mental disorders. Expand
Williams syndrome: autosomal dominant inheritance.
TLDR
In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child, and none of these patients has supravalvular aortic stenosis or chromosome abnormalities. Expand
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