To address the natural history of Williams syndrome (WS), we performed multisystem assessments on 20 adults with WS over 30 years of age and documented a high frequency of problems in multiple organ systems. The most striking and consistent findings were: abnormal body habitus; mild-moderate high frequency sensorineural hearing loss; cardiovascular disease and hypertension; gastrointestinal symptoms including diverticular disease; diabetes and abnormal glucose tolerance on standard oral glucose tolerance testing; subclinical hypothyroidism; decreased bone mineral density on DEXA scanning; and a high frequency of psychiatric symptoms, most notably anxiety, often requiring multimodal therapy. Review of brain MRI scans did not demonstrate consistent pathology. The adults in our cohort were not living independently and the vast majority were not competitively employed. Our preliminary findings raise concern about the occurrence of mild accelerated aging, which may additionally complicate the long-term natural history of older adults with WS. We provide monitoring guidelines to assist in the comprehensive care of adults with WS.

Long before infants reach, crawl, or walk, they explore the world by looking: they look to learn and to engage1, giving preferential attention to social stimuli including faces2, face-like stimuli3, and biological motion4. This capacity—social visual engagement—shapes typical infant development from birth5 and is pathognomonically impaired in children affected by autism6. Here we show that variation in viewing of social scenes—including levels of preferential attention and the timing, direction, and targeting of individual eye movements—is strongly influenced by genetic factors, with effects directly traceable to the active seeking of social information7. In a series of eye-tracking experiments conducted with 338 toddlers—including 166 epidemiologically-ascertained twins, 88 non-twins with autism, and 84 singleton controls—we find high monozygotic twin-twin concordance (0.91) and relatively low dizygotic concordance (0.35). Moreover, the measures that are most highly heritable, preferential attention to eye and mouth regions of the face, are also those that are differentially diminished in children with autism (Χ2=64.03, P<0.0001). These results—which implicate social visual engagement as a neurodevelopmental endophenotype—not only for autism, but for population-wide variation in social-information-seeking8—reveal a means of human biological niche construction, with phenotypic differences emerging from the interaction of individual genotypes with early life experience7.

These results indicate that a relatively short-term intervention program can produce measurable improvements in the face recognition skills of children with autism. As a treatment for face processing deficits, the Let's Face It! program has advantages of being cost-free, adaptable to the specific learning needs of the individual child and suitable for home and school applications.

Fifteen children with autism spectrum disorders (ASD) and twenty-one children without ASD completed six perceptual tasks designed to characterize the nature of the audiovisual processing difficulties experienced by children with ASD. Children with ASD scored significantly lower than children without ASD on audiovisual tasks involving human faces and voices, but scored similarly to children without ASD on audiovisual tasks involving nonhuman stimuli (bouncing balls). Results suggest that children with ASD may use visual information for speech differently from children without ASD. Exploratory results support an inverse association between audiovisual speech processing capacities and social impairment in children with ASD.

Although it has been well established that individuals with autism exhibit difficulties in their face recognition abilities, it has been debated whether this deficit reflects a category-specific impairment of faces or a general perceptual bias toward the local level information in a stimulus. In this study, the Let’s Face It! Skills Battery (Tanaka & Schultz, 2008) of developmental face and object processing measures was administered to a large sample of children diagnosed with autism spectrum disorder (ASD) and typical developing (TD) children. The main finding was that when matched for age and IQ, individuals with ASD were selectively impaired in their ability to recognize faces across changes in orientation, expression and featural information. In a face discrimination task, ASD participants showed a preserved ability to discriminate featural and configural information in the mouth region of a face, but were compromised in their ability to discriminate featural and configural information in the eyes. On object processing tasks, ASD participants demonstrated a normal ability to recognize automobiles across changes in orientation and a superior ability to discriminate featural and configural information in houses. These findings indicate that the face processing deficits in ASD are not due to a local processing bias, but reflect a category-specific impairment of faces characterized by a failure to form view-invariant face representations and discriminate information in the eye region of the face.