Neuropsychological, neurological, and neuroanatomical profile of Williams syndrome
American Journal of Medical GeneticsPublished 6 June 2005
Ursula Bellugi, Amy M. Bihrle, Terry L. Jernigan, Doris A. Trauner, Sally Doherty
Citations427
Generate an AI Snapshot to get a quick, structured summary of this paper.
Study Snapshot
ObjectiveStudy objective
MethodsResearch methodology
PopulationPopulation studied
Sample sizeSample sizes
OutcomesStudy outcomes here
ResultsStudy results comes here
LimitationsResearch study limitations comes here
A concise AI-generated summary of the paper will appear here once you click Generate AI Snapshot.
TL;DR
A dissociation between language and cognitive functions in Williams syndrome adolescents, in contrast to age- and IQ-matched Down syndrome adolescents is reported, indicating an unusual fractionation of higher cortical functioning, with marked cognitive deficits, but selective sparing of syntax.
Abstract
The general aim of our research is to understand the brain mechanisms that underlie language and cognition. In this paper, we present a new line of investigation which attempts to forge links between a specific neurodevelopmental disorder, a specific neuropsychological profile, and abnormal brain organization. We report on a dissociation between language and cognitive functions in Williams syndrome adolescents, in contrast to age- and IQ-matched Down syndrome adolescents. The Williams syndrome individuals exhibit an unusual fractionation of higher cortical functioning, with marked cognitive deficits, but selective sparing of syntax. Differences in spatial cognitive abilities in the 2 groups are investigated, showing peaks and valleys of abilities specific to Williams syndrome individuals. These neurobehavioral profiles are explored in light of new evidence regarding neurologic and neuroanatomical differences between the 2 matched groups of adolescents. Results from these combined studies should help clarify the neural systems that mediate language and cognitive functions.
Keywords
MedicineNeuroscienceBiochemistry, Genetics and Molecular Biology
Archives of Disease in ChildhoodQuantitative growth and development of human brain
1,454 Citations1973John Dobbing, Jean Sands
The growth spurt period is much more postnatal than has formerly been supposed; the cerebellum has special growth characteristics; and there is a separate period from 10 to 18 weeks' gestation when adult neuronal cell number may largely be achieved.
CirculationSupravalvular Aortic Stenosis
1,068 Citations1961J. C. P. Williams, Brian G. Barratt‐Boyes +1 more
The presence of supravalvular aortic stenosis in mentally retarded patients with the unusual facial features here detailed may constitute a syndrome that has not previously been described.
New England Journal of MedicineHypoplasia of Cerebellar Vermal Lobules VI and VII in Autism
1,045 Citations1988Eric Courchesne, Rachel Yeung-Courchesne +2 more
In patients with autism, neocerebellar abnormality may directly impair cognitive functions that some investigators have attributed to the neoceebellum; may indirectly affect the development and functioning of one or more systems involved in cognitive, sensory, autonomic, and motor activities.
The Journal of PediatricsNatural history of Williams syndrome: Physical characteristics
671 Citations1988Colleen A. Morris, Susan A. Demsey +3 more
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.
Behavioral NeuroscienceDoes the cerebellum contribute to mental skills?
601 Citations1986Henrietta C. Leiner, Alan L. Leiner +1 more
NeurologyVisual perception of line direction in patients with unilateral brain disease
400 Citations1975Arthur L. Benton, H. Julia Hannay +1 more
The striking interhemispheric difference in performance on this visuospatial task suggests its further development for clinicodiagnostic purposes.
NeuropsychologiaHemispheric specialization of memory for visual hierarchical stimuli
399 Citations1986Dean C. Delis, Lynn C. Robertson +1 more
Unilateral brain-damaged patients and normal control subjects were asked to remember visual hierarchical stimuli consisting of larger forms constructed from smaller forms, and the right-hemisphere damaged patients made more errors in remembering the larger forms relative to the smaller forms.
Medical Entomology and ZoologySpatial cognition : brain bases and development
399 Citations1988Joan Stiles-Davis, Mark Kritchevsky +1 more
This book discusses the development of Spatial Cognition in Adults with a focus on young children and the role of the Parietal Lobe in this process.
Brain Research BulletinThe neurobiologie consequences of down syndrome
248 Citations1986Joseph T. Coyle, Mary Lou Oster‐Granite +1 more
To elucidate the mechanisms responsible for Down Syndrome abnormalities, identification of the genes located in the distal part of HSA 21 and the systematic study of animal model systems with close genetic homology are essential.
Archives of NeurologyAnomalous Brain Morphology on Magnetic Resonance Images in Williams Syndrome and Down Syndrome
242 Citations1990Terry L. Jernigan, Ursula Bellugi
A highly selective effect on brain development appears to accompany Williams syndrome, with some brain subsystems, possibly later-developing ones, relatively spared.
The Journal of PediatricsThe Williams elfin facies syndrome
241 Citations1975Kenneth Lyons Jones, David W. Smith
The most consistent features are growth deficiency which is predominantly of postnatal onset, mild microcephaly with mental deficiency, and an altered pattern of facial development which includes short palpebral fissures, a stellate pattern in the iris, medial eyebrow flare, and a depressed nasal bridge with anteverted nares.
Journal of Child Psychology and PsychiatryCOGNITIVE ABILITIES AND BEHAVIOURAL CHARACTERISTICS OF CHILDREN WITH IDIOPATHIC INFANTILE HYPERCALCAEMIA
233 Citations1987Orlee Udwin, William Yule +1 more
An investigation of the psychological characteristics of 44 children aged 6-16 years with documented evidence of idiopathic infantile hypercalcaemia revealed cognitive abilities and behavioural patterns which distinguish these children from other mentally handicapped groups.
Brain and CognitionSeeing either the forest or the trees: Dissociation in visuospatial processing
194 Citations1989Amy M. Bihrle, Ursula Bellugi +2 more
The results of this study suggest that certain cognitive deficits may cluster even in the absence of frank cerebral damage, just as they cluster following insult to one hemisphere.
Clinical GeneticsThe Williams syndrome: objective definition and diagnosis
146 Citations1984M. Preus
A diagnostic index using 50 characters separates patients into two groups with an expected accuracy of 99% and is expected to be applicable to young infants without a substantial decrease in accuracy.
PEDIATRICSWilliams Syndrome: Features in Late Childhood and Adolescence
141 Citations1987Roberta A Pagon, Forrest C. Bennett +3 more
NeuropsychologiaDissociable visual and spatial impairments following right posterior cerebral lesions: Clinical, neuropsychological and anatomical evidence
128 Citations1987Freda Newcombe, G. Ratcliff +1 more
The clinical, neuropsychological and post-mortem anatomical data are considered in relation to evidence from physiological research of two major cortico-cortical pathways for object-recognition and spatial perception.
Developmental Medicine & Child NeurologyTHE PSYCHOLOGICAL CHARACTERISTICS OF INFANTILE HYPERCALCEMIA: A PRELIMINARY INVESTIGATION
122 Citations1985Rosemary Arnold, William Yule +1 more
This study clarifies some of the psychological correlates of infantile hypercalcaemia and some implications for management are suggested.
Journal of Medical GeneticsWilliams syndrome.
116 Citations1986John Burn
It is shown that what is still one of the very few fully documented examples of IIH progressing to Williams-Beuren syndrome is an infrequent feature when large series of cases are reviewed.
Journal of clinical and experimental neuropsychologyVisuospatial dysfunction following unilateral brain damage: Dissociations in hierarchical and hemispatial analysis
109 Citations1988Dean C. Delis, Mark G. Kiefner +1 more
It is shown that unilateral brain damage results in pronounced dissociations in both hierarchical and hemispatial processing, and patients with left-hemisphere damage showed the greatest impairment in drawing forms at the lower level of hierarchical stimuli presented in right hemispace.
The Journal of PediatricsImpaired calcitonin secretion in patients with Williams syndrome
88 Citations1985Floyd L. Culler, Kenneth L. Jones +1 more
It is demonstrated that patients with Williams syndrome have a defect in the synthesis or release of immunoreactive calcitonin, which may explain the abnormalities of calcium metabolism seen in these patients and can serve as an important endocrine marker for Williams syndrome.
Developmental Brain ResearchAbnormal electric membrane properties of Down's syndrome DRG neurons in cell culture
82 Citations1981Brian S. Scott, Ted L. Petit +2 more
If the abnormal EMP observed in the present study for Down's DRG neurons in culture occurred for CNS neurons in situ they would disrupt the normal function of the nervous system and could therefore constitute the neurobiological basis of the mental retardation observed in Down's syndrome.
Pediatric NeurologyNeurologic features of Williams and Down syndromes
75 Citations1989Doris A. Trauner, Ursula Bellugi +1 more
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.
Journal of clinical and experimental neuropsychologyWilliams Syndrome: A Neuropsychological Profile
41 Citations1988G. Wayne Macdonald, D L Roy
The results support the view that children with Williams syndrome suffer from a severe impairment in visual-motor integration, and no significant differences were noted between the groups on tests for simple motor skills.
Applied Research in Mental RetardationDevelopmental delays in williams (“Elfin Facies”) syndrome
37 Citations1984Sudesh Kataria, Donald J. Goldstein +1 more
The previously reported pattern of superior verbal abilities over motor abilities was not supported, nor was there any evidence of an "unusual command" of language, usually considered a marker of the syndrome.
Journal of Clinical NeurophysiologyContribution of Electrophysiological Studies to Cerebellar Physiology
35 Citations1988Robert S. Dow
If confirmed by further clinical evidence, this broader concept of cerebellar function would explain the mystery of why the most lateral parts of the cerebellum enlarged dramatically in the human brain, concomitantly with the enlargement of the cerebral association areas.
Archives of Disease in ChildhoodAge at diagnosis and abilities in idiopathic hypercalcaemia.
18 Citations1986Orlee Udwin, William Yule +1 more
No relation was found between the age at which hypercalcaemia was diagnosed and subsequent full scale intelligence quotients (IQ) and reading or spelling abilities, but verbal IQ was significantly higher than performance IQ, which had an inverse relation with age at diagnosis.
Critical issues in neuropsychologyFractionation of Spatial Cognition following Focal and Diffuse Brain Damage
6 Citations1989Dean C. Delis, Amy M. Bihrle
There have been relatively few neuropsychological investigations of visuospatial dysfunction relative to the large number of studies of aphasia, and the nature of the impairment is difficult to characterize in a precise manner.