Impaired affective expression, including social smiling, is common in children with autism spectrum disorder (ASD), and may represent an early marker for ASD in their infant siblings (Sibs-ASD). Social smiling and its component behaviors (eye contact and non-social smiling) were examined at 15 months in Sibs-ASD who demonstrated later ASD…

The duplication of the Williams-Beuren syndrome (WBS) region (7q11.23) is a copy number variant associated with autism spectrum disorder (ASD). One of the most intriguing aspects is that the reciprocal microdeletion causes WBS, characterized by hypersociability, marked empathy, and a relative capacity in verbal short-term memory and language.…

The Fragile X syndrome (FXS) is the most frequent form of inherited mental disability and is considered a monogenic cause of autism spectrum disorder. FXS is caused by a triplet expansion that inhibits the expression of the "FMR1" gene. The gene product, the Fragile X Mental Retardation Protein (FMRP), regulates mRNA metabolism in brain…

This review highlights several methodological challenges involved in research on aging, health, and mortality in adults with rare intellectual disability syndromes. Few studies have been performed in this area, with research obstacles that include: the ascertainment of older adults with genetic versus clinical diagnoses; likelihood that adults…

Individuals with autism have higher rates of minor physical anomalies (MPAs) than neurotypical persons. Minor physical anomalies are slight morphological deviations typically harmless and without cosmetic or medical importance to the individual but indicative of an underlying neurodevelopmental disorder. In genetic autism research the utilization…

The purpose of this investigation was to evaluate the effectiveness of a behavioral treatment package to reduce chronic sleep problems in children with Angelman Syndrome. Participants were five children, 2-11 years-of-age. Parents maintained sleep diaries to record sleep and disruptive nighttime behaviors. Actigraphy was added to provide…

Previous studies have shown that deficiencies in visuospatial perception and semantic processing in people with Williams syndrome (WS) are due to deficient central cohesiveness. Unlike previous studies that used abstract stimuli, this study used pictures to determine the relative ability of people with WS to integrate contextual information with…

Williams syndrome (WS) is a neurodevelopmental genetic disorder associated with high rates of anxiety and social issues. We examined diurnal cortisol, a biomarker of the stress response, in adults with WS in novel and familiar settings, and compared these profiles to typically developing (TD) adults. WS and TD participants had similar profiles in…

The present study sought to examine the longitudinal psychoeducational, neurocognitive, and psychiatric outcomes of children and adolescents with chromosome 22q11.2 deletion syndrome (22q11DS), a population with a high incidence of major psychiatric illnesses appearing in late adolescence/early adulthood. Little is known of the developmental…

People with Williams syndrome (WS) are said to have sociable and extremely trusting personalities, approaching strangers without hesitation. This study investigated whether people with WS are less likely than controls to attribute negative intent to others when interpreting a series of ambiguous pictures. This may, at least partially, explain…

Prader-Willi syndrome (PWS), a neurodevelopmental disorder primarily characterized by hyperphagia and food preoccupations, is caused by the absence of expression of the paternally active genes in the proximal arm of chromosome 15. Although maladaptive behavior and the cognitive profile in PWS have been well characterized, social functioning has…

During a trial involving an offender with a mental disorder, jurors are often required to evaluate information on the disorder and its characteristics. This evaluation relies on how jurors understand and synthesize psychiatric and other evidence on the disorder and this information's impact on the case, an offender's culpability, and the rendered…

Since subthreshold autistic social impairments aggregate in family members, and since attentional dysfunctions appear to be one of the earliest cognitive markers of children with autism, we investigated in the general population the relationship between infants' attentional functioning and the autistic traits measured in their parents.…

Social avoidance and anxiety are prevalent in fragile X syndrome (FXS) and are potentially mediated by the amygdala, a brain region critical for social behavior. Unfortunately, functional brain resonance imaging investigation of the amygdala in FXS is limited by the difficulties experienced by intellectually impaired and anxious participants. We…

Genetic and epigenetic differences exist within monozygote twin-pairs and might be especially important in the expression of autism. Assuming phenotypic differences between monozygotic twins are due to environmental influences may lead to mistaken conclusions regarding the relative genetic and environmental contribution to autism risk.