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.     

Working Memory In Individuals With Fragile X Syndrome

The present research tests the hypothesis that fragile X syndrome (FXS) is associated with a deficit in working memory (WM) and the deficit is more pronounced the higher the control requirements of the task. To this purpose, 15 boys with FXS and 15 typically developing children, matched for mental age, assessed with Logical Operation Test, were tested with batteries of 4 verbal and 4 visuospatial WM tasks requiring different levels of control. Children with FXS showed a performance equal to controls, in WM tasks requiring low and medium-low control but significant impairment in correspondence with greater control requirements. Results show that boys with FXS present a WM deficit only when high control is required by the task, supporting the hypothesis that control can be a critical variable distinguishing WM functions and explaining intellectual differences. On the contrary the hypothesis that the FXS is associated with a visuospatial deficit was not supported.     

Fatigue,emotional functioning,and executive dysfunction in pediatric multiple sclerosis

Objective: Fatigue, depression, anxiety, and executive dysfunction are associated with multiple sclerosis (MS) in adults. Existing research suggests similar problems in pediatric MS, but relationships between these variables have not been investigated. This study investigates the associations between executive functioning and fatigue, emotional functioning, age of onset, and disease duration in pediatric MS.

Methods: Twenty-six MS or Clinically Isolated Syndrome (CIS) patients, ages 7 to 18, were evaluated through a multidisciplinary demyelinating diseases clinic. Participants completed neuropsychological screening including Verbal Fluency, Digit Span, and Trail-Making Test. Parents completed rating forms of behavioral, emotional, and executive functioning. Patients and parents completed questionnaires related to the patient’s quality of life and fatigue. Pearson’s correlation coefficients were calculated to investigate relationships between fatigue, emotional functioning, and executive functioning, as well as to examine correlations between parent and child reports of fatigue.

Results: Rates of parent-reported anxiety, depression, fatigue, and executive dysfunction varied widely. Means were below average on the Trail-Making Test and average on Verbal Fluency and Digit Span, though scores varied widely. Various fatigue and emotional functioning indices—but not age of onset or disease duration—significantly correlated with various performance-based measures of executive functioning.

Conclusion: Results indicate pediatric MS is associated with some degree of fatigue, emotional difficulties, and executive dysfunction, the latter of which is associated with the two former. Notably, age of onset and disease duration did not significantly correlate with executive functioning. Results advance understanding of psychological and clinical variables related to neurocognitive outcomes in pediatric MS.     

Development of a measure of symptoms in chronic fatigue syndrome: The profile of fatigue-related symptoms(pfrs)

Abstract

Chronic fatigue syndrome (CFS) is a disorder of uncertain aetiology which attracts increasing research interest. This paper describes the development of a multidimensional measure incorporating the diverse symptoms associated with the illness. The Profile of Fatigue-Related Symptoms (PFRS) has four scales: emotional distress, cognitive difficulty, fatigue and somatic symptoms. These showed good convergence with comparison measures, high reliability and high internal consistency. CFS patients had markedly elevated scores compared with a student comparison group, and these scores correlated with indices of illness severity. The PFRS is a short and easily administered measure which, it is suggested, may be used to assess patients in terms of the severity and pattern of their disorder, to relate subjective symptoms to immunological and other findings, to evaluate the effects of treatments, and to compare the symptomatology of CFS with that in other fatiguing illnesses.     

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.     

Individual Growth Curve Modeling of Specific Risk Factors and Memory in Youth with Type 1 Diabetes: An Accelerated Longitudinal Design

Objective: To examine if diabetes risk factors disrupt memory score trajectories in youth with T1D over three years with a powerful accelerated longitudinal method and individual growth curve modeling. Methods: Participants aged 9–17 completed memory measures at study enrollment and two years later. Results: Poorer metabolic control over the course of the study related to a significant decrease in visual memory scores. Compared to baseline, these youth scored 1.99 points lower at follow-up. Generally appropriate developmental gains were made in memory trajectories and girls' visual and verbal memory improved more than boys. No significant effects of disease duration, age of onset, or severe hypoglycemia were found on visual or verbal memory over three years time. Conclusions: Of the risk factors studied, only poorer metabolic control had a significant impact upon visual memory after three years. Verbal memory was unaffected. However, given that level of metabolic control tends to remain relatively consistent over time, the effect of continued poorer metabolic control on memory should be monitored.     

How parents introduce new words to young children: The influence of development and developmental disorders

This study documents how parents weave new words into on-going interactions with children who are just beginning to speak. Dyads with typically developing toddlers and with young children with autism spectrum disorder and Down syndrome (n = 56, 23, and 29) were observed using a Communication Play Protocol during which parents could use novel words to refer to novel objects. Parents readily introduced both labels and sound words even when their child did not respond expressively or produce the words. Results highlight both how parents act in ways that may facilitate their child's appreciation of the relation between a new word and its referent and how they subtly adjust their actions to suit their child's level of word learning and specific learning challenges.     

‘An Association for All’—Notions of the Meaning of Autistic Self‐Advocacy Politics within a Parent‐Dominated Autistic Movement

In this paper, we seek to explore the tensions between advocacy and self advocacy autistic movements in a Swedish context with a special focus on the meanings that enable the production of particular understandings of autism and the autistic subject. Drawing on articles written for the Swedish advocacy magazine Empowerment written for and by people with autism, the discourse analysis explores two competing discourses: a reformist and a radical. The reformist discourse underlines a goal of (political) representation expressed in Empowerment. It may be understood as an important part of producing a legitimate autistic political subject–positioned as a full member, with a full membership–within a parent‐dominated autistic advocacy movement. The reformist discourse can be viewed as a result of a negotiation, where full membership is conditioned on the parents' terms and granted on specific terms. These include working together (neuro‐inclusively), advocacy based on interest rather than identity/position as a specific target/member group, agreement upon a definition of autism as a disability (a deficit) a person has rather than an identity. In relation to this, an alternative legitimate autistic subject is produced through invoking the counter‐hegemonic radical discourse. Such a narrative produces the ‘Asperger’ or ‘Aspie’. Here, the ‘full membership’ refers to a sense of identification with sense of belonging to and being at home with other people with autism. It contains a certain amount of autistic solidarity within the group of adults with autism. Copyright © 2014 John Wiley & Sons, Ltd.