No abstract

Conversational or "co-speech" gestures play an important role in communication, facilitating turntaking, providing visuospatial information, clarifying subtleties of emphasis, and other pragmatic cues. Consistent with other pragmatic language deficits, individuals with autism spectrum disorders (ASD) are said to produce fewer conversational gestures, as specified in many diagnostic measures. Surprisingly, while research shows fewer deictic gestures in young children with ASD, there is a little empirical evidence addressing other forms of gesture. The discrepancy between clinical and empirical observations may reflect impairments unrelated to frequency, such as gesture quality or integration with speech. Adolescents with high-functioning ASD (n = 15), matched on age, gender, and IQ to 15 typically developing (TD) adolescents, completed a narrative task to assess the spontaneous production of speech and gesture. Naïve observers rated the stories for communicative quality. Overall, the ASD group's stories were rated as less clear and engaging. Although utterance and gesture rates were comparable, the ASD group's gestures were less closely synchronized with the co-occurring speech, relative to control participants. This gesture-speech synchrony specifically impacted communicative quality across participants. Furthermore, while story ratings were associated with gesture count in TD adolescents, no such relationship was observed in adolescents with ASD, suggesting that gestures do not amplify communication in this population. Quality ratings were, however, correlated with ASD symptom severity scores, such that participants with fewer ASD symptoms were rated as telling higher quality stories. Implications of these findings are discussed in terms of communication and neuropsychological functioning in ASD.

BackgroundWidespread use of microarray technology has led to increasing identification of 22q11.2 duplication syndrome (22q11.2DupS), the reciprocal syndrome of the well-characterized 22q11.2 deletion syndrome (22q11.2DS). Individuals with 22q11.2DS have elevated rates of community diagnoses of autism spectrum disorder (ASD), schizophrenia, and a range of medical problems and birth defects that necessitate extensive medical screening. Case reports of 22q11.2DupS include patients with ASD, fewer medical problems, and no schizophrenia; however, no prospective cohort study has been reported. The goals of the study were to (1) characterize the neuropsychiatric functioning of a cohort of individuals with 22q11.2DupS in comparison to large samples of typically developing controls (TDCs), ASD and 22q11.2DS; (2) estimate the prevalence of ASD in 22q11.2DupS; (3) determine whether the indications that prompted the genetic testing in 22q11.2DupS differ from 22q11.2DS and (4) determine whether comprehensive medical screening should be recommended for those diagnosed with 22q11.2DupS.MethodsMedical characterization was done by parental questionnaire and medical chart review of individuals with 22q11.2DupS (n = 37) and 22q11.2DS (n = 101). Neuropsychiatric characterization of children with 22.11.2DupS, 22q11.2DS, TDCs, and ASD was done by parent-report questionnaires; in addition, the ASD and 22q11.2DupS groups received the Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule.ResultsIndividuals with 22q11.2DupS, 22q11.2DS, and ASD had significantly impaired social interaction and adaptive behavior skills compared to TDCs. Overall, 38 % of children aged 2–18 with 22q11.2DupS had community diagnoses of ASD, but fewer (14–25 %) met on the basis of best clinical judgment that included ADI-R and ADOS data. Indications for genetic testing were significantly different for 22q11.2DupS and 22q11.2DS, with the deletions more commonly tested because of birth defects or medical problems, and the duplications because of developmental delay. However, when the screening protocol for 22q11.2DS was applied to the 22q11.2DupS sample, several medical problems were identified that would pose significant risk if left undetected.Conclusions22q11.2DupS has a high rate of ASD at 14–25 %, among the highest of any genetic disorder. Prospective medical screening should be done for all patients with 22q11.2DupS, including those diagnosed due to developmental delays and ASD alone.Electronic supplementary materialThe online version of this article (doi:10.1186/s13229-016-0090-z) contains supplementary material, which is available to authorized users.

This study focuses on the association between language skills and core cognitive processes relative to the duration of institutionalization in children adopted from orphanages abroad. Participants in the adoptive group (n = 46) had arrived in the United States between the ages of 2 and 84 months (mean = 24 months), and had been living in the United States for 1-9 years. Drawing on both experimental and standardized assessments, language skills of the international adoptees differed as a function of length of time spent in an institution and from those of 24 nonadopted controls. Top-down cognitive assessments including measures of explicit memory and cognitive control differed between adopted and nonadopted children, yet differences between groups in bottom-up implicit learning processes were unremarkable. Based on the present findings, we propose a speculative model linking language and cognitive changes to underlying neural circuitry alterations that reflect the impact of chronic stress, due to adoptees' experience of noncontingent, nonindividualized caregiving. Thus, the present study provides support for a relationship between domain-general cognitive processes and language acquisition, and describes a potential mechanism by which language skills are affected by institutionalization.