Impact of cognitive profile on social functioning in prepubescent females with Turner syndrome

Social deficits are prevalent in Turner syndrome (TS); however, the extent to which these difficulties are secondary to characteristic cognitive impairments is not well known. Here, we sought to establish the relative contribution of executive functions, visuospatial abilities, and IQ to social difficulties in young girls with TS. Forty TS girls and 19 typically developing (TD) children were assessed with the Social Responsiveness Scale (SRS), the Motor-Free Visual Spatial Test (MVPT-3), the Behavior Rating Inventory of Executive Function (BRIEF), and an IQ test. Hierarchical multiple regression analyses were conducted with the SRS subscales as outcome variables. In a first step, the cognitive factors were entered (verbal IQ, BRIEF global score, MVPT-3, and age), followed by the group variable in a second step. In comparison to TD, TS participants were significantly impaired on all main measures. All six regression models with the SRS subscales were significant and revealed that global executive functions explained the largest portion of the variance on all subscales and the total score. Even after controlling for cognitive elements, the group factor still explained a significant portion of the variance of the Social Cognition, Social Awareness, and Autistic Mannerisms subscales. In contrast, the group factor was not a significant predictor of Social Motivation and Social Communication scores. These results suggest that executive dysfunctions play a role in social impairments encountered in TS, but also that some specific aspects of social behavior are altered beyond what can be attributed to cognitive difficulties in this population.     

Facial emotion recognition in Williams syndrome and Down syndrome: A matching and developmental study

In this study both the matching and developmental trajectories approaches were used to clarify questions that remain open in the literature on facial emotion recognition in Williams syndrome (WS) and Down syndrome (DS). The matching approach showed that individuals with WS or DS exhibit neither proficiency for the expression of happiness nor specific impairments for negative emotions. Instead, they present the same pattern of emotion recognition as typically developing (TD) individuals. Thus, the better performance on the recognition of positive compared to negative emotions usually reported in WS and DS is not specific of these populations but seems to represent a typical pattern. Prior studies based on the matching approach suggested that the development of facial emotion recognition is delayed in WS and atypical in DS. Nevertheless, and even though performance levels were lower in DS than in WS, the developmental trajectories approach used in this study evidenced that not only individuals with DS but also those with WS present atypical development in facial emotion recognition. Unlike in the TD participants, where developmental changes were observed along with age, in the WS and DS groups, the development of facial emotion recognition was static. Both individuals with WS and those with DS reached an early maximum developmental level due to cognitive constraints.     

腹内压的变化对肠道氧合及功能的影响

以胃黏膜pH值及血浆D-乳酸为监测指标,观察腹高压患者的腹内压变化前后胃肠道氧合及功能的变化。本研究提示胃黏膜pH值可以反映胃肠道的缺血,且早于腹腔间隙综合征出现,可敏感反映腹高压时肠道氧舍情况;血浆D-乳酸可反映肠缺血再灌注时肠屏障功能状态。以上观察为临床提供简便易行的监测手段及治疗思路。     

Long-term follow-up of internet-delivered exposure and mindfulness based treatment for irritable bowel syndrome

We conducted a follow-up of a previously reported study of internet-delivered cognitive behavior therapy (CBT) for IBS, based on exposure and mindfulness exercises (Ljótsson et al. (2010). Internet-delivered exposure and mindfulness based therapy for irritable bowel syndrome – a randomized controlled trial. Behaviour Research and Therapy, 48, 531–539). Seventy-five participants from the original sample of 85 (88%) reported follow-up data at 15–18 months (mean 16.4 months) after completing treatment. The follow-up sample included participants from both the original study’s treatment group and waiting list after it had been crossed over to treatment. Intention-to-treat analysis showed that treatment gains were maintained on all outcome measures, including IBS symptoms, quality of life, and anxiety related to gastrointestinal symptoms, with mainly large effect sizes (within-group Cohen’s d = 0.78–1.11). A total of fifty participants (59% of the total original sample; 52% of the original treatment group participants and 65% of the original waiting list participants) reported adequate relief of symptoms. Improvements at follow-up were more pronounced for the participants that had completed the full treatment and maintenance of improvement did not seem to be dependent on further treatment seeking. This study suggests that internet-delivered CBT based on exposure and mindfulness has long-term beneficial effects for IBS-patients.     

Attentional disengagement in adults with Williams syndrome

Williams syndrome (WS) is a neurodevelopmental disorder characterized by a distinctive behavioral and cognitive profile, including widespread problems with attention. However, the specific nature of their attentional difficulties, such as inappropriate attentional allocation and/or poor attentional disengagement abilities, has yet to be elucidated. Furthermore, it is unknown if there is an underlying difficulty with the temporal dynamics of attention in WS or if their attentional difficulties are task-dependent, because previous studies have examined attention in established areas of deficit and atypicality (specifically, visuospatial and face processing). In this study, we examined attentional processing in 14 adults with WS (20–59 years) and 17 typically developing controls (19–39 years) using an attentional blink (AB) paradigm. The AB is the decreased ability to detect a second target when it is presented in close proximity to an initial target. Overall, adults with WS had an AB that was prolonged in duration, but no different in magnitude, compared with typically developing control participants. AB performance was not explained by IQ, working memory, or processing speed in either group. Thus, results suggest that the attention problems in WS are primarily due to general attentional disengagement difficulties rather than inappropriate attentional allocation.     

FUNCTIONAL ANALYSIS OF INAPPROPRIATE SOCIAL INTERACTIONS IN STUDENTS WITH ASPERGER'S SYNDROME

We analyzed the inappropriate social interactions of 3 students with Asperger's syndrome whose behavior was maintained by social positive reinforcement. We tested whether inappropriate social behavior was sensitive to social positive reinforcement contingencies and whether such contingencies could be reversed to increase the probability of socially appropriate responding. Our results show that social positive reinforcers can be identified for inappropriate social interactions and that appropriate social behaviors can be sensitive to reinforcement contingency reversals.     

Exceptional lexical skills but executive language deficits in school starters and young adults with Turners syndrome: implications for X chromosome effects on brain function

TS school starters had enhanced receptive and expressive language on standardised assessment (CELF-P) and enhanced rhyme judgements, spoonerisms, and lexical decision, indicating enhanced phonological skills and word representations. There was marginal but consistent advantage across lexico-semantic tasks. On executive tasks, speeded naming of numbers was impaired but not pictures. Young TS adults had enhanced naming and receptive vocabulary, indicating enhanced semantic skills. There were consistent deficits in executive language: phonemic oral fluency, rhyme fluency, speeded naming of pictures, numbers and colours; sentence completion requiring supression of prepotent responses.Haploinsufficiency of X-chromosome drives mechanisms that affect the anatomical and neurochemical development of the brain, resulting in enhanced temporal lobe aspects of language. These strengths co-exist with impaired development of frontal lobe executive language systems. This means not only that these elements of language can decouple in development but that their very independence is driven by mechanisms linked to the X-chromosome.     

Cognition and lobar morphology in full mutation boys with fragile X syndrome

The aims of the present study are twofold: (1) to examine cortical morphology (CM) associated with alterations in cognition in fragile X syndrome (FXS); (2) to characterize the CM profile of FXS versus FXS with an autism diagnosis (FXS + Aut) as a preliminary attempt to further elucidate the behavioral distinctions between the two sub-groups. We used anatomical magnetic resonance imaging surface-based morphometry in 21 male children (FXS N = 11 and age [2.27-13.3] matched controls [C] N = 10). We found (1) increased whole hemispheric and lobar cortical volume, cortical thickness and cortical complexity bilaterally, yet insignificant changes in hemispheric surface area and gyrification index in FXS compared to C; (2) linear regression analyses revealed significant negative correlations between CM and cognition; (3) significant CM differences between FXS and FXS + Aut associated with their distinctive behavioral phenotypes. These findings are critical in understanding the neuropathophysiology of one of the most common intellectual deficiency syndromes associated with altered cognition as they provide human in vivo information about genetic control of CM and cognition.