Recommendations from Multi-disciplinary Focus Groups on Cascade Testing and Genetic Counseling for Fragile X-associated Disorders

The purpose of this paper is to report the outcome of a collaborative project between the Fragile X Research and Treatment Center at the Medical Investigation of Neurodevelopmental Disorders (M.I.N.D.) Institute at the University of California at Davis, the National Fragile X Foundation (NFXF), and the Centers for Disease Control and Prevention (CDC). The objective of this collaboration was to develop and disseminate protocols for genetic counseling and cascade testing for the multiple disorders associated with the fragile X mental retardation 1 (FMR1) mutation. Over the last several years, there has been increasing insight into the phenotypic range associated with both the premutation and the full mutation of the FMR1 gene. To help develop recommendations related to screening for fragile X-associated disorders, four, two day advisory focus group meetings were conducted, each with a different theme. The four themes were: (1) fragile X-associated tremor/ataxia syndrome (FXTAS); (2) premature ovarian failure (POF) and reproductive endocrinology; (3) psychiatric, behavioral and psychological issues; and (4) population screening and related ethical issues.     

Lifespan changes in working memory in fragile X premutation males

Fragile X syndrome is the world’s most common hereditary cause of developmental delay in males and is now well characterized at the biological, brain and cognitive levels. The disorder is caused by the silencing of a single gene on the X chromosome, the FMR1 gene. The premutation (carrier) status, however, is less well documented but has an emerging literature that highlights a more subtle profile of executive cognitive deficiencies that mirror those reported in fully affected males. Rarely, however, has the issue of age-related declines in cognitive performance in premutation males been addressed. In the present study, we focus specifically on the cognitive domain of working memory and its subcomponents (verbal, spatial and central executive memory) and explore performance across a broad sample of premutation males aged 18–69 years matched on age and IQ to unaffected comparison males. We further tease apart the premutation status into those males with symptoms of the newly identified neurodegenerative disorder, the fragile X-associated tremor/ataxia syndrome (FXTAS) and those males currently symptom-free. Our findings indicate a specific vulnerability in premutation males on tasks that require simultaneous manipulation and storage of new information, so-called executive control of memory. Furthermore, this vulnerability appears to exist regardless of the presence of FXTAS symptoms. Males with FXTAS symptoms demonstrated a more general impairment encompassing phonological working memory in addition to central executive working memory. Among asymptomatic premutation males, we observed the novel finding of a relationship between increased CGG repeat size and impairment to central executive working memory.     

ACT HEALTHY: A Combined Cognitive-Behavioral Depression and Medication Adherence Treatment for HIV-Infected Substance Users

The two most common comorbid conditions with HIV are substance use disorders and depression, and individuals with comorbid HIV, depression, and substance dependence face a more chronic and treatment-resistant course. As an example of how to adapt evidence-based approaches to a complex comorbid population, the current case study examined the integration of a combined depression and HIV medication adherence treatment. The resulting intervention, ACT HEALTHY, combines a brief behavioral activation approach specifically developed to treat depression in individuals receiving residential substance abuse treatment (LETS ACT; Daughters et al., 2008) with a brief cognitive-behavioral approach to improving HIV medication adherence (Life-Steps; Safren et al., 1999; Safren et al., 2009). The current case series demonstrates the use of ACT HEALTHY among 3 depressed HIV-positive, low-income African Americans entering residential substance abuse treatment.     

Planning in sentence production: Evidence for the phrase as a default planning scope

Controversy remains as to the scope of advanced planning in language production. Smith and Wheeldon (1999) found significantly longer onset latencies when subjects described moving-picture displays by producing sentences beginning with a complex noun phrase than for matched sentences beginning with a simple noun phrase. While these findings are consistent with a phrasal scope of planning, they might also be explained on the basis of: (1) greater retrieval fluency for the second content word in the simple initial noun phrase sentences and (2) visual grouping factors. In Experiments 1 and 2, retrieval fluency for the second content word was equated for the complex and simple initial noun phrase conditions. Experiments 3 and 4 addressed the visual grouping hypothesis by using stationary displays and by comparing onset latencies for the same display for sentence and list productions. Longer onset latencies for the sentences beginning with a complex noun phrase were obtained in all experiments, supporting the phrasal scope of planning hypothesis. The results indicate that in speech, as in other motor production domains, planning occurs beyond the minimal production unit.     

Working memory capacity and spontaneous emotion regulation in generalised anxiety disorder

Researchers have postulated that deficits in cognitive control are associated with, and thus may underlie, the perseverative thinking that characterises generalised anxiety disorder (GAD). We examined associations between cognitive control and levels of spontaneous state rumination following a stressor in a sample of healthy control participants (CTL; n?=?27) and participants with GAD (n?=?21). We assessed cognitive control by measuring working memory capacity (WMC), defined as the ability to maintain task-relevant information by ignoring task-irrelevant information. To this end, we used an affective version of the reading span task with valenced (negative or neutral) distractors. Lower WMC in the presence of negative distractors was associated with greater state rumination in the GAD group, but not in the CTL group. These findings suggest that difficulty maintaining task-relevant information due to interference from negative distractors contributes to perseverative thinking in GAD.     

Global precedence effects account for individual differences in both face and object recognition performance

There has been an increase in studies adopting an individual difference approach to examine visual cognition and in particular in studies trying to relate face recognition performance with measures of holistic processing (the face composite effect and the part-whole effect). In the present study we examine whether global precedence effects, measured by means of non-face stimuli in Navon’s paradigm, can also account for individual differences in face recognition and, if so, whether the effect is of similar magnitude for faces and objects. We find evidence that global precedence effects facilitate both face and object recognition, and to a similar extent. Our results suggest that both face and object recognition are characterized by a coarse-to-fine temporal dynamic, where global shape information is derived prior to local shape information, and that the efficiency of face and object recognition is related to the magnitude of the global precedence effect.     

The Effect of Employee Assistance Services on Reductions in Employee Absenteeism

Personal and work-related stressors experienced by employees can result in substantial costs to employers in the form of employee absenteeism. Employee Assistance Programs (EAPs) provide an important vehicle to assist employees with behavioral health issues, personal concerns, and work-related problems that impact employee absenteeism. This study tested the impact of EAPs on reducing employee absenteeism utilizing a well-matched control group and human resource timecard data. The study recruited employees from 20 areas of state government and used a prospective, quasi-experimental design with propensity score matching. EAP (n = 145) users were matched to non-EAP (n = 145) users on baseline demographic, psychosocial, and work-related characteristics that differentiate the groups. Hours of sick time recorded were provided by human resource offices. Differences in sick leave usage were tested using mixed model repeated measures. A steeper decline in sick leave usage for EAP than non-EAP employees was found, with estimates of 4.8 to 6.5% fewer hours lost per month to illness. Further analysis found that EAP services were most effective in helping clients move from moderate to low levels of sick leave rather than in reducing sick leave for those experiencing chronic absenteeism. Research on the effectiveness of EAPs rarely utilizes well-matched control groups and frequently relies on self-reported outcomes. Using an objective measure of work time lost, this study provides empirical evidence that users of EAP services tend to reduce their absenteeism at a faster pace than non-EAP users experiencing similar challenges to maintaining productivity.     

Changes in EEG cross-frequency coupling during cognitive behavioral therapy for social anxiety disorder

Coupling between EEG delta and beta oscillations is enhanced among anxious and healthy individuals during anticipatory anxiety. EEG coupling patterns associated with psychotherapy have not yet been quantified in socially anxious individuals. In this study, we used a double baseline, repeated measures design, in which 25 adults with a principal diagnosis of social anxiety disorder completed 12 weekly sessions of standardized group cognitive behavioral therapy and four EEG assessments: two at pretreatment, one at midtreatment, and one at posttreatment. Treatment was associated with reductions in symptom severity across multiple measures and informants, as well as reductions in delta-beta coupling at rest and during speech anticipation. Moreover, the clinical group exhibited greater coupling at pretreatment than did post hoc control participants with low social anxiety. The EEG cross-frequency profiles in the clinical group normalized by the posttreatment assessment. These findings provide evidence of concomitant improvement in neural and behavioral functioning among socially anxious adults undergoing psychotherapy.     

Implementation and Preliminary Feasibility of an Individualized,Supportive Approach to Behavioral Care for Parents of Young Children Newly Diagnosed With Type 1 Diabetes

There are significant stressors related to parenting a young child with newly diagnosed type 1 diabetes (T1D). Despite these challenges, there are not yet clearly defined interventions to help promote psychological health and adherence for families with young children with T1D. First STEPS is a tailored stepped care design intervention to positively impact parents’ emotional functioning and children’s glycemic control in young children newly diagnosed with T1D. The First STEPS intervention is derived from a combination of Cognitive Behavioral Theory and Social Cognitive Theory to support family adjustment to T1D, promote parental mastery over T1D tasks, increase coping skills to manage stressors associated with T1D, and build on the strengths of families newly diagnosed with T1D to help them achieve positive health and wellbeing outcomes. We present details about the intervention and describe two pilot participants as case studies. Results indicated that the treatment and delivery model were acceptable to the pilot participants, as evidenced by treatment completion and satisfaction ratings. Future directions for this work include testing the efficacy of this new treatment in a randomized controlled trial.