The development of early social cognitive skills in neurogenetic syndromes associated with autism: Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes.

BACKGROUND: Cornelia de Lange (CdLS), Fragile X (FXS) and Rubinstein-Taybi syndromes (RTS) evidence unique profiles of autistic characteristics. To delineate these profiles further, the development of early social cognitive abilities in children with CdLS, FXS and RTS was compared to that observed in typically developing (TD) and autistic (AUT) children. METHODS: Children with CdLS (N = 22), FXS (N = 19) and RTS (N = 18), completed the Early Social Cognition Scale (ESCogS). Extant data from AUT (N = 19) and TD (N = 86) children were used for comparison. RESULTS: Similar to AUT children, children with CdLS, FXS and RTS showed an overall delay in passing ESCogS tasks. Children with CdLS showed a similar degree of delay to AUT children and greater delay than children with FXS and RTS. The CdLS, FXS and RTS groups did not pass tasks in the same sequence observed in TD and AUT children. Children with CdLS (p = 0.04), FXS (p = 0.02) and RTS (p = 0.04) performed better on tasks requiring understanding simple intentions in others significantly more than tasks requiring joint attention skills. CONCLUSIONS: An underlying mechanism other than general cognitive delay may be disrupting early social cognitive development in children with CdLS, FXS and RTS. Factors that may disrupt early social cognitive development within these syndromes are discussed.

An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.

We directly assessed the broader aspects of sociability (social enjoyment, social motivation, social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS), fragile X (FXS) and Rubinstein-Taybi syndromes (RTS), and their association with autism characteristics and chronological age in these groups. Individuals with FXS (p < 0.01) and RTS (p < 0.01) showed poorer quality of eye contact compared to individuals with CdLS. Individuals with FXS showed less person and more object attention than individuals with CdLS (p < 0.01). Associations between sociability and autism characteristics and chronological age differed between groups, which may indicate divergence in the development and aetiology of different components of sociability across these groups. Findings indicate that individuals with CdLS, FXS and RTS show unique profiles of sociability.

Atypical speech versus non-speech detection and discrimination in 4- to 6- yr old children with autism spectrum disorder: An ERP study.

Previous event-related potential (ERP) research utilizing oddball stimulus paradigms suggests diminished processing of speech versus non-speech sounds in children with an Autism Spectrum Disorder (ASD). However, brain mechanisms underlying these speech processing abnormalities, and to what extent they are related to poor language abilities in this population remain unknown. In the current study, we utilized a novel paired repetition paradigm in order to investigate ERP responses associated with the detection and discrimination of speech and non-speech sounds in 4- to 6-year old children with ASD, compared with gender and verbal age matched controls. ERPs were recorded while children passively listened to pairs of stimuli that were either both speech sounds, both non-speech sounds, speech followed by non-speech, or non-speech followed by speech. Control participants exhibited N330 match/mismatch responses measured from temporal electrodes, reflecting speech versus non-speech detection, bilaterally, whereas children with ASD exhibited this effect only over temporal electrodes in the left hemisphere. Furthermore, while the control groups exhibited match/mismatch effects at approximately 600 ms (central N600, temporal P600) when a non-speech sound was followed by a speech sound, these effects were absent in the ASD group. These findings suggest that children with ASD fail to activate right hemisphere mechanisms, likely associated with social or emotional aspects of speech detection, when distinguishing non-speech from speech stimuli. Together, these results demonstrate the presence of atypical speech versus non-speech processing in children with ASD when compared with typically developing children matched on verbal age.

A pilot study to assess the feasibility and impact of a brief motivational intervention on problem drug and alcohol use in adult mental health inpatient units: study protocol for a randomized controlled trial.

BACKGROUND: Substance misuse in those with severe mental health problems is common and associated with poor engagement in treatment and treatment outcomes. Up to 44% of those admitted into psychiatric inpatient facilities have coexisting substance-misuse problems. However, this is not routinely addressed as part of their treatment plan. A mental health admission may present a window of opportunity for inpatients to reevaluate the impact of their substance use. This study will aim to evaluate the effectiveness of a targeted brief motivational intervention in improving engagement in treatment and to assess how feasible and acceptable this intervention is to inpatients and staff as a routine intervention. METHODS/DESIGN: This randomized controlled trial will use concealed randomization; blind, independent assessment of outcome at 3 months; characterization of refusers and dropouts; and be analyzed according to the intention-to-treat principle. After baseline assessments, eligible participants will be randomized either to the Brief Integrated Motivational Intervention plus Treatment As Usual, or Treatment as Usual alone. Eligible participants will be those who are new admissions; >18 years; ICD-10 diagnosis of -schizophrenia or related disorder, bipolar affective disorder, recurrent depressive disorder, and DSM-IV diagnosis of substance abuse or dependence over the last 3 months. The primary outcome is engagement in treatment for substance misuse, and secondary outcomes include readiness to change substance misuse together with a cost-effectiveness analysis. Qualitative interviews with staff and participants will assess the acceptability of the intervention. DISCUSSION: This pilot randomized trial will provide the first robust evidence base for inpatient care of people with severe mental health problems and co-morbid substance misuse and provide the groundwork for confirmatory trials to evaluate a potentially feasible, cost-effective, and easy-to-implement treatment option that may be readily integrated into standard inpatient and community-based care. TRIAL REGISTRATION: ISRCTN43548483 Date of ISRCTN assignation: 4/17/2014.

Motor development and motor resonance difficulties in autism: relevance to early intervention for language and communication skills.

Research suggests that a sub-set of children with autism experience notable difficulties and delays in motor skills development, and that a large percentage of children with autism experience deficits in motor resonance. These motor-related deficiencies, which evidence suggests are present from a very early age, are likely to negatively affect social-communicative and language development in this population. Here, we review evidence for delayed, impaired, and atypical motor development in infants and children with autism. We then carefully review and examine the current language and communication-based intervention research that is relevant to motor and motor resonance (i.e., neural "mirroring" mechanisms activated when we observe the actions of others) deficits in children with autism. Finally, we describe research needs and future directions and developments for early interventions aimed at addressing the speech/language and social-communication development difficulties in autism from a motor-related perspective.