1: Neuropsychologia 2003;41(8):1037-46

Spatial representation and attention in toddlers with Williams syndrome and Down syndrome.

Brown JH, Johnson MH, Paterson SJ, Gilmore R, Longhi E, Karmiloff-Smith A.

Department of Psychology, The Harry Pitt Building, University of Reading, Earley Gate, RG6 6AL, Reading, UK

The nature of the spatial representations that underlie simple visually guided actions early in life was investigated in toddlers with Williams syndrome (WS), Down syndrome (DS), and healthy chronological age- and mental age-matched controls, through the use of a “double-step” saccade paradigm. The experiment tested the hypothesis that, compared to typically developing infants and toddlers, and toddlers with DS, those with WS display a deficit in using spatial representations to guide actions. Levels of sustained attention were also measured within these groups, to establish whether differences in levels of engagement influenced performance on the double-step saccade task. The results showed that toddlers with WS were unable to combine extra-retinal information with retinal information to the same extent as the other groups, and displayed evidence of other deficits in saccade planning, suggesting a greater reliance on sub-cortical mechanisms than the other populations. Results also indicated that their exploration of the visual environment is less developed. The sustained attention task revealed shorter and fewer periods of sustained attention in toddlers with DS, but not those with WS, suggesting that WS performance on the double-step saccade task is not explained by poorer engagement. The findings are also discussed in relation to a possible attention disengagement deficit in WS toddlers. Our study highlights the importance of studying genetic disorders early in development.

PMID: 12667539 [PubMed – in process]

2: Neuropsychologia 2003;41(6):733-8

Facial expression recognition in Williams syndrome.

Gagliardi C, Frigerio E, Burt DM, Cazzaniga I, Perrett DI, Borgatti R.

Neurorehabilitation Unit, IRCCS ‘E. Medea’, (Lc), Bosisio Parini, Italy

Individuals with Williams syndrome (WS) excel in face recognition and show both a remarkable concern for social stimuli and a linguistic capacity for, in particular, emotionally referenced language. The animated full facial expression comprehension test (AFFECT), a new test of emotional expression perception, was used to compare participants with WS with both chronological and mental age-matched controls. It was found that expression recognition in WS was worse than that of chronologically age-matched controls but indistinguishable from that of mental age controls. Different processing strategies are thought to underlie the similar performance of individuals with WS and mental age controls.
The expression recognition performance of individuals with WS did not correlate with age, but was instead found to correlate with IQ. This is compared to earlier findings, replicated here, that face recognition performance on the Benton test correlates with age and not IQ. The results of the Benton test have been explained in terms of individuals with WS being good at face recognition; since a piecemeal strategy can be used, this strategy is improved with practice which would explain the correlation with age. We propose that poor expression recognition of the individuals with WS is due to a lack of configural ability since changes in the configuration of the face are an important part of expressions. Furthermore, these reduced configural abilities may be due to abnormal neuronal development and are thus fixed from an early age.

PMID: 12591030 [PubMed – in process]

3: Neuropsychologia 2003;41(6):676-87

Divided attention, selective attention and drawing: processing preferences in Williams syndrome are dependent on the task administered.

Farran EK, Jarrold C, Gathercole SE.

Department of Psychology, University of Reading, Earley Gate, RG6 6AL, Reading, UK

The visuo-spatial abilities of individuals with Williams syndrome (WS) have consistently been shown to be generally weak. These poor visuo-spatial abilities have been ascribed to a local processing bias by some [R. Rossen, E.S. Klima, U. Bellugi, A. Bihrle, W. Jones, Interaction between language and cognition: evidence from Williams syndrome, in: J. Beitchman, N. Cohen, M. Konstantareas, R. Tannock (Eds.), Language, Learning and Behaviour disorders: Developmental, Behavioural and Clinical Perspectives, Cambridge University Press, New York, 1996, pp. 367-392] and conversely, to a global processing bias by others [Psychol. Sci. 10 (1999) 453]. In this study, two identification versions and one drawing version of the Navon hierarchical processing task, a non-verbal task, were employed to investigate this apparent contradiction. The two identification tasks were administered to 21 individuals with WS, 21 typically developing individuals, matched by non-verbal ability, and 21 adult participants matched to the WS group by mean chronological age (CA). The third, drawing task was administered to the WS group and the typically developing (TD) controls only. It was hypothesised that the WS group would show differential processing biases depending on the type of processing the task was measuring. Results from two identification versions of the Navon task measuring divided and selective attention showed that the WS group experienced equal interference from global to local as from local to global levels, and did not show an advantage of one level over another. This pattern of performance was broadly comparable to that of the control groups. The third task, a drawing version of the Navon task, revealed that individuals with WS were significantly better at drawing the local form in comparison to the global figure, whereas the typically developing control group did not show a bias towards either level. In summary, this study demonstrates that individuals with WS do not have a local or a global processing bias when asked to identify stimuli, but do show a local bias in their drawing abilities. This contrast may explain the apparently contrasting findings from previous studies.

PMID: 12591025 [PubMed – in process]

4: J Child Psychol Psychiatry 2003 Jan;44(1):64-87

>Non-human primate models of childhood psychopathology: the promise and the limitations.

Machado CJ, Bachevalier J.

University of Texas Health Science Center, UT Medical School, Houston 77030, USA.

Although non-human primate models have been used previously to investigate the neurobiology of several sensory and cognitive developmental pathologies, they have been employed only sparingly to study the etiology of childhood psychopathologies for which deficits in social behavior and emotion regulation are major symptoms. Previous investigations of both adult human and non-human primates have indicated that primate social behavior and emotion are regulated by a complex neural network, in which the amygdala and orbital frontal cortex play major roles. Therefore, this review will provide information generated from the study of macaque monkeys regarding the timing of normal social and emotional behavior development, the normal pattern of anatomical and functional maturation of the amygdala and orbital frontal cortex, as well as information regarding the neural and behavioral effects of early perturbations of these two neural structures. We will also highlight ‘critical periods’ of macaque development, during which major refinements in the behavioral repertoire appear to coincide with significant neural maturation of the amygdala and/or orbital frontal cortex. The identification of these ‘critical periods’ may allow one to better predict the specific behavioral impairments likely to appear after neonatal damage to one or both of these neural areas at different time points during development. This experimental approach may provide a new and important way to inform and stimulate research on childhood psychopathologies, such as autism, schizophrenia and Williams syndrome, in which the development of normal social skills and emotional regulation is severely perturbed. Finally, the promise and limitations inherent to the use of non-human primate models of childhood psychopathology will be discussed.

PMID: 12553413 [PubMed – in process]

5: Neuroimage 2003 Jan;18(1):74-82

Neural correlates of auditory perception in Williams syndrome: an fMRI study.

Levitin DJ, Menon V, Schmitt JE, Eliez S, White CD, Glover GH, Kadis J,
Korenberg JR, Bellugi U, Reiss AL.>

Department of Psychology, McGill University, Montreal, Quebec, Canada.

Williams syndrome (WS), a neurogenetic developmental disorder, is characterized by a rare fractionation of higher cortical functioning: selective preservation of certain complex faculties (language, music, face processing, and sociability) in contrast to marked and severe deficits in nearly every other cognitive domain (reasoning, spatial ability, motor coordination, arithmetic, problem solving). WS people are also known to suffer from hyperacusis and to experience heightened emotional reactions to music and certain classes of noise. We used functional magnetic resonance imaging to examine the neural basis of auditory processing of music and noise in WS patients and age-matched controls and found strikingly different patterns of neural organization between the groups. Those regions supporting music and noise processing in normal subjects were found not to be consistently activated in the WS participants (e.g., superior temporal and middle temporal gyri). Instead, the WS participants showed significantly reduced activation in the temporal lobes coupled with significantly greater activation in the right amygdala. In addition, WS participants (but not controls) showed a widely distributed network of activation in cortical and subcortical structures, including the brain stem, during music processing. Taken together with previous ERP and cytoarchitectonic studies, this first published report of WS using fMRI provides additional evidence of a different neurofunctional organization in WS people than normal people, which may help to explain their atypical reactions to sound. These results constitute an important first step in drawing out the links between genes, brain, cognition, and behavior in Williams syndrome.

PMID: 12507445 [PubMed – indexed for MEDLINE]