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.

OBJECTIVES: African American (AA) children affected by autism spectrum disorder (ASD) experience delays in diagnosis and obstacles to service access, as well as a disproportionate burden of intellectual disability (ID) as documented in surveillance data recently published by the US Centers for Disease Control and Prevention. Our objective in this study was to analyze data from the largest-available repository of diagnostic and phenotypic information on AA children with ASD, and to explore the wide variation in outcome within the cohort as a function of sociodemographic risk and specific obstacles to service access for the purpose of informing a national approach to resolution of these disparities. METHODS: Parents of 584 AA children with autism consecutively enrolled in the Autism Genetic Resource Exchange across 4 US data collection sites completed event history calendar interviews of the diagnostic odysseys for their children with ASD. These data were examined in relation to developmental outcomes of the children with autism and their unaffected siblings. RESULTS: The average age of ASD diagnosis was 64.9 months (649.6), on average 42.3 months (645.1) after parents' first concerns about their children's development. The relationship between timing of diagnosis and ASD severity was complex, and ID comorbidity was not predicted in a straightforward manner by familial factors associated with cognitive variation in the general population. CONCLUSIONS: These findings document significant opportunity to expedite diagnosis, the need to further understand causes of ID comorbidity, and the necessity to identify effective approaches to the resolution of disparities in severity-of-outcome for AA children with autism. WHAT'S KNOWN ON THIS SUBJECT: African American (AA) children with autism experience racial disparities in timing of diagnosis and access to quality interventions. AA children experience twice the rate of comorbid intellectual disability and higher rates of misdiagnosis of autism compared with non-Hispanic white children. WHAT THIS STUDY ADDS: These data reveal a 3-year time lag between parental recognition of developmental delay and autism diagnosis among AAs, and that excess intellectual disability burden cannot be explained by ascertainment bias or by traditional familial predictors of cognitive outcome.

PURPOSE: To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care. METHODS: Thirty-two individuals with the 3q29 deletion were evaluated using a defined phenotyping protocol and standardized data collection instruments. RESULTS: Medical manifestations were varied and reported across nearly every organ system. The most severe manifestations were congenital heart defects (25%) and the most common were gastrointestinal symptoms (81%). Physical examination revealed a high proportion of musculoskeletal findings (81%). Neurodevelopmental phenotypes represent a significant burden and include intellectual disability (34%), autism spectrum disorder (38%), executive function deficits (46%), and graphomotor weakness (78%). Psychiatric illness manifests across the lifespan with psychosis prodrome (15%), psychosis (20%), anxiety disorders (40%), and attention deficit-hyperactivity disorder (ADHD) (63%). Neuroimaging revealed structural anomalies of the posterior fossa, but on neurological exam study subjects displayed only mild or moderate motor vulnerabilities. CONCLUSION: By direct evaluation of 3q29 deletion study subjects, we document common features of the syndrome, including a high burden of neurodevelopmental and neuropsychiatric phenotypes. Evidence-based recommendations for evaluation, referral, and management are provided to help guide clinicians in the care of 3q29 deletion patients.

WHAT'S KNOWN ON THIS SUBJECT: To date, studies of adaptive behavior in fragile X syndrome have focused on particular age points, either longitudinally or cross-sectionally across a broad age spectrum. Studies have shown variable patterns in adaptive behavior among people with fragile X syndrome. WHAT THIS STUDY ADDS:This study fills a critical gap in knowledge about the profile of adaptive behavior across childhood, adolescence, and young adulthood in fragile X syndrome. This study is the first to incorporate longitudinal data from an age-matched typically developing group. abstract OBJECTIVE: To examine longitudinally the adaptive behavior patterns in fragile X syndrome.METHOD: Caregivers of 275 children and adolescents with fragile X syndrome and 225 typically developing children and adolescents (2-18 years) were interviewed with the Vineland Adaptive Behavior Scales every 2 to 4 years as part of a prospective longitudinal study. RESULTS:Standard scores of adaptive behavior in people with fragile X syndrome are marked by a significant decline over time in all domains for males and in communication for females. Socialization skills are a relative strength as compared with the other domains for males with fragile X syndrome. Females with fragile X syndrome did not show a discernible pattern of developmental strengths and weaknesses.CONCLUSIONS: This is the first large-scale longitudinal study to show that the acquisition of adaptive behavior slows as individuals with fragile X syndrome age. It is imperative to ensure that assessments of adaptive behavior skills are part of intervention programs focusing on childhood and adolescence in this condition. Pediatrics 2014;134:315-324 AUTHORS: