Orientation and affective expression effects on face recognition in Williams syndrome and autism.

We sought to clarify the nature of the face processing strength commonly observed in individuals with Williams syndrome (WS) by comparing the face recognition ability of persons with WS to that of persons with autism and to healthy controls under three conditions: Upright faces with neutral expressions, upright faces with varying affective expressions, and inverted faces with neutral expressions. No differences were observed under the upright/neutral expression condition. However, the WS group was more accurate than the autism group when discriminating upright faces with varying affective expressions, whereas the opposite pattern emerged when discriminating inverted faces. We interpret these differences as a reflection of the contrasting social features of the two syndromes.

Examining the relationship between executive functions and restricted, repetitive symptoms of Autistic Disorder.

The executive function theory was utilized to examine the relationship between cognitive process and the restricted, repetitive symptoms of Autistic Disorder (AD). Seventeen adults with AD were compared to 17 nonautistic controls on a new executive function battery (Delis-Kaplin Executive Function Scales). Restricted, repetitive symptoms were measured by a variety of instruments (i.e., the Autism Diagnostic Observation Schedule, Autism Diagnostic Interview-Revised, Gilliam Autism Rating Scale, and the Aberrant Behavior Checklist). The study replicated the executive function profile that has been reported in adults with AD. In addition to the replication findings, the study found several executive processes (i.e., cognitive flexibility, working memory, and response inhibition) were highly related to the restrictive, repetitive symptoms of AD; whereas, other executive process (i.e., planning and fluency) were not found to be significantly correlated with restricted, repetitive symptoms. Similarly, we found an executive function model consisting of relative strengths and deficits was the best predictor of restricted, repetitive symptoms of autism. The implications for the executive function theory and how the theory predicts core symptoms of autism are discussed.

Characterizing the musical phenotype in individuals with Williams Syndrome.

Williams Syndrome (WS), a neurodevelopmental genetic disorder, is characterized by peaks and valleys in mental function: substantial impairments in cognitive domains such as reasoning, arithmetic ability, and spatial cognition, alongside relatively preserved skills in social domains, face processing, language, and music. We report the results of a comprehensive survey on musical behaviors and background administered to the largest sample of individuals with WS to date (n = 118, mean age = 20.4), and compare the results to those obtained from a control group of typically developing normal individuals (n = 118, mean age = 20.9) and two groups of individuals with other neurodevelopmental genetic disorders, Autism (n = 30, mean age = 18.2) and Down Syndrome (n = 40, mean age = 17.2). Individuals with WS were found to be rated higher in musical accomplishment, engagement, and interest than either of the comparison groups, and equivalent on most measures to the control group. Compared to all other groups including the controls, the WS individuals displayed greater emotional responses to music, manifested interest in music at an earlier age, and spent more hours per week listening to music. In addition, the effects of music listening (whether positive or negative) tended to last longer in the WS group. A factor analysis extracted seven principal components that characterize the musical phenotype in our sample, and discriminant function analysis of those factors was able to successfully predict group membership for the majority of cases. We discuss the neurobiological implications of these findings.

The 11q terminal deletion disorder: a prospective study of 110 cases.

We performed a prospective study of 110 patients (75 not previously published) with the 11q terminal deletion disorder (previously called Jacobsen syndrome), diagnosed by karyotype. All the patients have multiple dysmorphic features. Nearly all the patients (94%) have Paris-Trousseau syndrome characterized by thrombocytopenia and platelet dysfunction. In total, 56% of the patients have serious congenital heart defects. Cognitive function ranged from normal intelligence to moderate mental retardation. Nearly half of the patients have mild mental retardation with a characteristic neuropsychiatric profile demonstrating near normal receptive language ability, but mild to moderate impairment in expressive language. Ophthalmologic, gastrointestinal, and genitourinary problems were common, as were gross and fine motor delays. Infections of the upper respiratory system were common, but no life-threatening infections were reported. We include a molecular analysis of the deletion breakpoints in 65 patients, from which genetic "critical regions" for 14 clinical phenotypes are defined, as well as for the neuropsychiatric profiles. Based on these findings, we provide a comprehensive set of recommendations for the clinical management of patients with the 11q terminal deletion disorder.

Shifting attention and joint attention dissociation in Williams syndrome: implications for the cerebellum and social deficits in autism.

An experimental paradigm that assesses one's capacity to perform intermodality attention shifting has proved to be sensitive for persons with cerebellar dysfunction. The basic experiment includes three conditions, auditory focus, visual focus and shift attention. In the auditory focus condition, the participant is instructed to press a joystick button when they hear the target tone and to ignore the other tone and the two visual stimuli. In the visual focus condition, the participant is instructed to press only the button to the target colored square and to ignore the other colored square and the two tones. In the shift attention condition, the participant is instructed to press the button to the first auditory target and then to press to the next visual target. They are instructed to continue to alternate their responses between auditory and visual targets until the trial is complete. Three individuals with Williams Syndrome (WMS), a genetic disorder due to the deletion of the elastin gene, were examined under these experimental conditions. Each participant with WMS had previously completed magnetic resonance imaging, and mid-sagittal area measurements had been made of the vermal lobules I-V and VI-VII. Cases were selected on the basis of cerebellar findings: one case was hypoplastic, one was hyperplastic and one had measurements in a range within one standard deviation of average for normal controls. Each of the WMS participants showed a pattern of being impaired in being able to shift their attention rapidly when cue-to-target intervals were less than 2.5 s. Their performance was very similar to previous reports of persons with cerebellar abnormalities and persons with autism. All three participants improved their target accuracy when given more time to shift their attention. The three participants did not experience performance deficits to either long or short cue-to-target intervals in the auditory focus or visual focus conditions. The results are consistent with the presence of cerebellar dysfunction, and are the first to suggest problems with shifting attention in persons with WMS. However, the three WMS participants demonstrated normal joint attention and had none of the social deficits observed in persons with autism.