Executive Functions in Children and Adolescents with Turner Syndrome: A Systematic Review and Meta-Analysis

Turner syndrome (TS) is a genetic disorder, affecting 1/2500 to 1/3000 live female births, induced by partial or total deletion of one X chromosome. The neurocognitive profile of girls with TS is characterized by a normal Verbal IQ and weaknesses in visual-spatial, mathematics, and social cognitive domains. Executive functions (EFs) impairments have also been reported in these young patients. However, methodological differences across studies do not allow determination of which EFs are impaired and what is the magnitude of these impairments. The aim of this review was to clarify the EF profile of children and adolescents with TS. Sixteen samples, from thirteen studies, were included in the current meta-analysis. EFs measures used in these studies were classified into working memory, inhibitory control, cognitive flexibility, or higher-order EFs tasks in accordance with Diamond’s model, Annual Review of Psychology, 64, 135–168 (2013). Results confirmed that girls with TS had significant executive impairments with effect sizes varying from small (inhibitory control) to medium (cognitive flexibility) and large (working memory, higher-order EFs). Analyses by task revealed that cognitive inhibition may be more impaired than the other inhibitory control abilities. Heterogeneity across cognitive flexibility measures was also highlighted. Between-sample heterogeneity was observed for three tasks and the impact of participants’ characteristics on EFs was discussed. This meta-analysis confirms the necessity to assess, in patients living with TS, each EF by combining both visual and verbal tasks. Results also underline that, when studying girls with TS’ executive profile, it is important to explore the impact of moderator variables, such as IQ, parental socio-economic status, TS karyotype, psychiatric comorbidities, and hormonal treatment status.     

Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding,Engagement, and Communication

“The objective of this study was to” test the effectiveness of an enhanced genomic report on patient-centered outcome domains including communication, engagement and satisfaction. “Study design utilized” a prospective, randomized, mixed-methods desctiptive study of a whole genome sequencing results report, GenomeCOMPASS?, that was accessed by providers through the electronic health record and by patients through the associated patient portal. “The study was set in” an integrated healthcare delivery system in central Pennsylvania. “Eighty-four” parents of 46 children with undiagnosed Intellectual Disability, Autism Spectrum Disorder and/or multiple congenital anomalies who had participated in a previous study offering whole genome sequencing for their affected child were invited to enroll. Fifty-two parents enrolled. Following a traditional genetics results informing visit, the study coordinator stratified families by diagnostic result and uninformative result and then randomized families within each group to an intervention arm to receive the GenomeCOMPASS? report or to the usual care arm to receive a summary letter from the medical geneticist. A letter inviting enrollment included a baseline survey, which once returned, constituted enrollment. Surveys were administered at 3 months post-genetics visit. At 6 months, the usual care arm crossed over to receive the intervention and were administered an additional survey at 3 months. Qualitative interviews were conducted following survey completion to augment the survey data regarding the patient centered outcomes of interest. Patient reported outcomes including communication, engagement, empowerment and satisfaction. In the intervention arm, GenomeCOMPASS? reports were released to 14 families (N?=?28 parents) and of those 21 (75%) returned 3 month surveys. In the usual care arm, 12 families (N?=?24 parents) received usual care summary letters and of those 20 (83%) returned 3 month surveys. At crossover, GenomeCOMPASS? reports were released to 20 individuals and 15 (75%) returned 3 month surveys. Qualitative interviews were conducted with 5 individuals. Use of the GenomeCOMPASS? report was reported by this small group of parents to improve communication with providers and non-health professionals such as educators and therapists and led to increased engagement and high satisfaction. Providers and others involved in the children’s care also endorsed the report’s effectiveness. Reports that addressed negative findings, i.e. uninformative results, were not found to be useful. Although the number of users was small, this study supports that customizable template reports may provide a useful and durable source of information that can support and enhance the information provided by genetics professionals in traditional face-to-face encounters. Trial registration: Clinicaltrials.gov (Record 2013–0594).     

Meta-Analysis of the Effects of Computerized Cognitive Training on Executive Functions: a Cross-Disciplinary Taxonomy for Classifying Outcome Cognitive Factors

The growing prevalence of neurodegenerative disorders associated with aging and cognitive decline has generated increasing cross-disciplinary interest in non-pharmacological interventions, such as computerized cognitive training (CCT), which may prevent or slow cognitive decline. However, inconsistent findings across meta-analytic reviews in the field suggest a lack of cross-disciplinary consensus and on-going debate regarding the benefits of CCT. We posit that a contributing factor is the lack of a theoretically-based taxonomy of constructs and representative tasks typically used. An integration of the Cattell-Horn-Carroll (CHC) taxonomy of broad and narrow cognitive factors and the Miyake unity-diversity theory of executive functions (EF) is proposed (CHC-M) as an attempt to clarify this issue through representing and integrating the disciplines contributing to CCT research. The present study assessed the utility of this taxonomy by reanalyzing the Lampit et al. (2014) meta-analysis of CCT in healthy older adults using the CHC-M framework. Results suggest that: 1) substantively different statistical effects are observed when CHC-M is applied to the Lampit et al. meta-analytic review, leading to importantly different interpretations of the data; 2) typically-used classification practices conflate Executive Function (EF) tasks with fluid reasoning (Gf) and retrieval fluency (Gr), and Attention with sensory perception; and 3) there is theoretical and practical advantage in differentiating attention and working-memory tasks into the narrow shifting, inhibition, and updating EF domains. Implications for clinical practice, particularly for our understanding of EF are discussed.     

Nation,Narration, and Health in Mohamedou Ould Slahi’s <Emphasis Type="Italic">Guantánamo Diary</Emphasis>

Scholars have mostly analyzed information from mental health practitioners, attorneys, and institutions to critique mental health practices in the War on Terror. These sources offer limited insights into the suffering of detainees. Detainee accounts provide novel information based on their experiences at Guantánamo. Mohamedou Ould Slahi’s Guantánamo Diary is the only text from a current detainee that provides a first-person account of his interrogations and interactions with health professionals. Despite being advertised as a diary, however, it has undergone redaction from American government officials. This article examines Slahi’s account of his interrogations and representations of mental health at Guantánamo and considers its role within the narrative function of the nation. At stake is the right of detainees to narrate, scholars to critique medical practices in the War on Terror, and the nation’s attempts to control its narration.     

From Neither/Nor to Both/And: Reconfiguring the Life and Legacy of Shirdi Sai Baba in Hagiography

The paper focuses on two hagiographic texts about the Indian saint Shirdi Sai Baba: G. R. Dabholkar’s ?rī Sāī Satcarita (1930) in Marathi and B. V. Narasimhaswami’s four-volume Life of Sai Baba (1955–69) in English. A comparative study of these texts highlights a notable shift in the saint’s life story. Whereas Dabholkar describes a saint who is “neither Hindu nor Muslim,” Narasimhaswami emphasizes particular devotional testimonies to reconstruct Shirdi Sai Baba as a syncretistic figure who is “both Hindu and Muslim.” Narasimhaswami’s reconstruction also reveals a politics of compositeness, in which a dominant Hindu embrace contains a domesticated Muslim-ness.     

Echo and the Failure of Knowing in Judith Fox’s Photographic Project <Emphasis Type="Italic">I Still Do: Loving and Living with Alzheimer’s</Emphasis>

In relationships ‘I’ and ‘you’ become ‘we’; despite individual differences, couples obtain an interdependent identity due to their shared interactions. During a serious illness, biological and biographical disruptions can put any reciprocal relationship under strain. Through intermedial analysis of Judith Fox’s photographic project, I Still Do: Loving and Living with Alzheimer’s (2009), I will explore ways the couple make sense of illness, how illness is communicated through text and image and also to identify the limits of representation. Here the photographs, I argue, solidify their relationship and echo the stuck-in-the-present state of mind brought on by Alzheimer’s.     

Imposing Order to See the Disorder: Student Depression and T.S. Eliot’s <Emphasis Type="Italic">The Waste Land:</Emphasis> A (Mis)reading/Diagnosis

Sometime ago, I found myself using the diagnosis of a student’s depression as a critical tool of interpretation, searching for signs of mental illness in her essay that explored order and disorder in T. S. Eliot’s The Waste Land. I realised that my reading had become a creative act, combining poem, poet, student essay and author to create, in a sense, one (un)readable text. The present paper is a reflection upon the processes of order and disorder located in a diagnosis of “madness” and the readings of writer and text this diagnosis initiated. I look to deconstruct acts of reading and diagnosis.     

The Resources We Bring: The Cultural Assets of Diverse Medical Students

In response to the need for a more diverse workforce, our medical school developed new policies and procedures that focus on the recruitment and selection of diverse students with a specific focus on those considered underrepresented in medicine. To understand what these students bring to the practice of medicine, researchers investigated their perception of their cultural assets and how they plan to use these assets as physicians. A cross-section of 23 ethnically, culturally, and geographically diverse medical students were interviewed and data were analyzed through phenomenographical methods. The results indicate that students view themselves as having multiple assets that could be of significant value in their future practice of medicine, including: a) an interest in science and access to family members in medicine, b) personal and familial struggles with health, c) self and family as immigrants, and d) strong family and community orientations. Students perceived these as cultural assets because they could directly identify where these assets could be valuable in medicine but questioned how to maintain them throughout medical school. Now that our institution has identified these assets, next steps include administrators' investigation of ways to leverage them through curricular and educational programs.     

Medical Students’ Efforts to Integrate and/or Reclaim Authentic Identity: Insights from a Mask-Making Exercise

Medical students’ mask-making can provide valuable insights into personal and professional identity formation and wellness. A subset of first- and second-year medical students attending a medical school wellness retreat participated in a mask-making workshop. Faculty-student teams examined student masks and explanatory narratives using visual and textual analysis techniques. A quantitative survey assessed student perceptions of the experience. We identified an overarching theme: “Reconciliation/reclamation of authentic identity.” The combination of nonverbal mask-making and narrative offers rich insights into medical students’ experience and thinking. This activity promoted reflection and self-care, while providing insight regarding personal and professional development.