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Rare long-range cortical connections enhance information processing
<jats:title>Summary</jats:title><jats:p>A fundamental and unanswered question concerns the key topological features of connectivity that are critically relevant for generating the dynamics underlying efficient cortical function. A candidate feature that has recently emerged is that the connectivity of the mammalian cortex follows an exponential distance rule, which uniquely includes a small proportion of long-range high-weight anatomical connections. We investigate how these long-range connections influence whole-brain dynamics with coupled oscillators. To understand the causal function of long-range connections, we first studied these connections in simple ring structures and then in complex empirical brain architectures. A small proportion of long-range connections are sufficient for significantly improving information transmission, i.e. information cascade. Large-scale empirical neuroimaging modelling point to the immense functional benefits for information processing of a brain architecture with long-range coupling that improves the information cascade thanks to the underlying turbulent regime of brain dynamics.</jats:p>
Decoding brain states on the intrinsic manifold of human brain dynamics across wakefulness and sleep
<jats:title>Abstract</jats:title><jats:p>Current state-of-the-art functional magnetic resonance imaging (fMRI) offers remarkable imaging quality and resolution, yet, the <jats:italic>intrinsic</jats:italic> dimensionality of brain dynamics in different states (wakefulness, light and deep sleep) remains unknown. Here we present a novel method to reveal the low dimensional intrinsic manifold underlying human brain dynamics, which is invariant of the high dimensional spatio-temporal representation of the neuroimaging technology. By applying this novel <jats:italic>intrinsic manifold</jats:italic> framework to fMRI data acquired in wakefulness and sleep, we reveal the nonlinear differences between wakefulness and three different sleep stages, and successfully decode these different brain states with an average accuracy of 96%. Remarkably, a further group analysis shows that the intrinsic manifolds of all participants share a common topology. Overall, our results reveal the intrinsic manifold underlying the spatiotemporal dynamics of brain activity and demonstrate how this manifold enables the decoding of different brain states such as wakefulness and various sleep stages.</jats:p>
Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease.
PURPOSE: Since the U.S. Food and Drug Administration approved sales of genetic tests for late-onset Alzheimer's disease (LOAD) risk, a heated debate has arisen over whether these tests should indeed be offered online and direct-to-consumer (DTC). As this debate progresses, it is important to understand the ethical perspectives and motivations of young people, who are a key target group for DTC services. METHODS: Thirty-one grandchildren of people with LOAD, aged 16-26, were interviewed about their moral attitudes and motivations with regards to DTC genetic testing for LOAD. RESULTS: Even though most participants claimed that people should have the right to access these services, they also expressed concerns about potential distress in response to learning about risk, particularly for minors. About a third were interested in testing, primarily to gain self-knowledge regarding one's health; however, face-to-face services were vastly preferred over the online option. CONCLUSION: While DTC genetic companies often market their services as a "fun consumer product", DTC testing for LOAD was largely understood as a serious health screening procedure and a vulnerable moment in the lives of young people in Alzheimer's families. This points to the importance of appropriate standards of information and support to young people pre- and post-testing.
Response to Achieving Consensus in the Measurement of Psychological Adjustment to Cleft Lip and/or Palate at Age 8+ Years.
In this letter, we discuss the recently published paper by Stock et al, entitled Achieving Consensus in the Measurement of Psychological Adjustment to Cleft Lip and/or Palate at Age 8+ Years.
Craniofacial Collaboration UK: Developmental Outcomes in 5-Year-Old Children With Sagittal Synostosis.
ABSTRACT: The Craniofacial Collaboration UK (CC-UK) is a joint initiative that seeks to address some of the limitations of previous developmental research with this patient group by providing systematically collected, robust data from clinically and chronologically homogenous representative samples of children. The current paper outlines the developmental outcomes at the age of 5 for children who had previously undergone primary surgery for single-suture sagittal synostosis (SS). It shows broad consistencies with the previous CC-UK work, indicating that the majority of children with SS will perform within the average range compared to peers across a number of developmental, behavioral and emotional domains. However, the group mean for children with SS indicates significantly greater difficulties with fine motor skills and hyperactivity, relative to normative data. Unexpectedly, children with SS had significantly better problem solving skills. While it is reassuring that the majority of children are broadly developing in line with their unaffected peers, these small but significant differences may be early indicators of some of the subtle difficulties documented in older children with craniosynostosis. Longitudinal follow up is therefore important to understand the developmental trajectory for children with SS and identification of potentially 'at risk' sub groups within this diagnostic cohort.
The Sensitivity and Specificity of Parental Report of Concern for Identifying Language Disorder in Children With Craniosynostosis.
ABSTRACT: Many factors that may co-occur with craniosynostosis, such as oral structural anomalies, hearing impairment, visual impairment, cognitive difficulties and psychosocial factors, may predispose this population to communication difficulties. At the Oxford Craniofacial Unit, children's speech, language and communication are regularly monitored in accordance with a systematic developmental screening protocol developed by the Speech and Language Therapists in the 4 United Kingdom (UK) Highly Specialized Craniofacial Centers. In addition to routine assessments, when parents attend routine multidisciplinary clinic appointments, they are asked about their child's communication development, and whether they have any concerns.A retrospective review was undertaken of parental concerns about hearing, speech development, behavior, physical development, concentration, school and friendships as indicated by parents on the Oxford Craniofacial Unit Pre-Clinic Questionnaire. The areas of concern were then correlated with the results of a standardized, guided parent questionnaire about children's language development, (Children's Communication Checklist - 2 (CCC-2)), to determine whether parental concern alone is a reliable way of identifying whether patients require further assessment for Language Disorder associated with Craniosynostosis.Participants were parents of 89 monolingual English-speaking children with craniosynostosis (62 male; 27 female), age range four to 13 years (mean age = 8 years 7 months), receiving active care at the Oxford Craniofacial Unit (June 2017-July 2018). Results of the pre-clinic questionnaire indicated that 6% of parents had concerns about their child's communication development. Results of the CCC-2 indicated that 29/89 (32.6%) of children required further assessment for Language Disorder associated with Craniosynostosis. When language difficulties were identified on the CCC-2, only 14% (n = 4/29) parents indicated concern on the pre clinic questionnaire. Results indicated that parental concern about behavior was the most important factor in identifying language disorder (P = 0.023).Results reinforce that the pre-clinic questionnaire is useful for identifying areas of parental concern. Results also indicate that parental concern alone is not sufficient to identify language disorder, and that further, detailed assessment is warranted. The results are consistent with previously reported links between behavior and language in the general population.
A Systematic Review of the Psychosocial Adjustment of Children and Adolescents with Facial Palsy: The Impact of Moebius Syndrome.
INTRODUCTION: Facial palsy is often associated with impaired facial function and altered appearance. However, the literature with regards to the psychological adjustment of children and adolescents with facial palsy has not been systematically reviewed to date. This paper aimed to review all published research with regards to psychosocial adjustment for children and adolescents with facial palsy. METHODS: MEDLINE, CINAHL, Embase, PsychInfo and AMED databases were searched and data was extracted with regards to participant characteristics, study methodology, outcome measures used, psychosocial adjustment and study quality. RESULTS: Five studies were eligible for inclusion, all of which investigated psychosocial adjustment in participants with Moebius syndrome, a form of congenital facial palsy. Many parents reported their children to have greater social difficulties than general population norms, with difficulties potentially increasing with age. Other areas of psychosocial adjustment, including behaviour, anxiety and depression, were found to be more comparable to the general population. DISCUSSION: Children and adolescents with Moebius syndrome may experience social difficulties. However, they also demonstrate areas of resilience. Further research including individuals with facial palsy of other aetiologies is required in order to determine the psychosocial adjustment of children and adolescents with facial palsy.
The Psychosocial Adjustment of Children Born With a Cleft Lip and/or Palate: Cross-Sectional and Longitudinal Analyses
Objective: To determine the psychosocial adjustment of children born with a cleft lip and/or palate (CL/P). Design: Longitudinal analyses of psychosocial outcomes and cross-sectional comparison with published norms. Setting: Retrospective clinical audit at a UK cleft center. Participants: Data available for 1174 participants born with a CL/P at ages 5 (n = 658), 10 (n = 415), and 15 (n = 171), with longitudinal data for a subset of the sample at 5 and 10 (n = 168) and 10 and 15 (n = 49). Main Outcome Measure: Parental-report Strengths and Difficulties Questionnaire (SDQ). Results: The majority of children scored in the average range for overall adjustment. Children born with CL/P had significantly higher mean overall SDQ scores relative to normative data at ages 5 and 10. Longitudinal analysis highlighted that adjustment at age 5 was a significant predictor of adjustment at age 10. Gender was another significant predictor of adjustment at age 5 and 10, with boys reporting more problems than girls. However, effect sizes for the impact of age and gender were small. Cleft type was not a significant predictor of SDQ score at any age. Conclusions: Children aged 5 and 10 years of age born with a cleft may experience greater overall psychosocial difficulties than the general population. The domains on the SDQ on which children experience difficulty may be influenced by age and gender. Future research should focus on the specific impact of cleft-related issues, including speech, language, and hearing difficulties, on psychosocial adjustment.
Preliminary Analysis From the Craniofacial Collaboration United Kingdom Developmental Outcomes in Children With Sagittal Synostosis
The Craniofacial Collaboration United Kingdom (CC-UK) was established across the 4 Highly Specialized Craniofacial Centres (HSCCs) in the UK in 2015. This is the first wave of data to be analyzed, looking at 3-year-old children with sagittal synostosis who have had primary corrective surgery. This is a comprehensive, homogenous dataset, looking at parental measures of development and behavior. The results indicate that the majority of children are rated by their parents as falling within one standard deviation of the mean for both developmental and behavioral measures. However, there was a trend across the age groups within the sample which, although not statistically significant, indicates that more developmental difficulties may become apparent as children get older. Behavior was rated as more problematic, and the areas of greatest parental concern were Conduct (challenging or confrontational behavior) and Hyperactivity domains, where 24% of children were rated as within the clinically significant range. Although the majority of children were rated as falling within the average range, the difference in the mean between the sagittal and the normative group was significant in 5 of the 6 behavioral domains. Further research is required to examine whether these findings are stable over time and to look at the mechanism which might be driving these changes. It is anticipated that future CC-UK analysis will elucidate this more clearly.
Impact of Completing CLEFT-Q Scales That Ask About Appearance on Children and Young Adults: An International Study
Objective: To describe the impact of completing the CLEFT-Q appearance scales on patients with cleft lip and/or palate and to identify demographic and clinical characteristics and CLEFT-Q scores associated with reporting a negative impact. Design: International cross-sectional survey. Setting: Recruitment took place between October 2014 and November 2016 at 30 craniofacial clinics located in 12 countries. Patients: Aged 8 to 29 years with cleft lip and/or palate. Main Outcome Measure(s): Participants were asked 4 questions to evaluate the impact of completing the field test version of a patient-reported outcome measure (the CLEFT-Q) that included 154 items, of which 79 (51%) asked about appearance (of the face, nose, nostrils, teeth, lips, jaws, and cleft lip scar). Results: The sample included 2056 participants. Most participants liked answering the CLEFT-Q (88%) and the appearance questions (82%). After completing the appearance scales, most participants (77%) did not feel upset or unhappy about how they look, and they felt the same (67%) or better (23%) about their appearance after completing the questionnaire. Demographic and clinical variables associated with feeling unhappy/upset or worse about how they look included country of residence, female gender, more severe cleft, anticipating future cleft-specific surgeries, and reporting lower (ie, worse) scores on CLEFT-Q appearance and health-related quality-of-life scales. Conclusion: Most participants liked completing the CLEFT-Q, but a small minority reported a negative impact. When used in clinical practice, CLEFT-Q scale scores should be examined as soon as possible after completion in order that the clinical team might identify patients who might require additional support.
A qualitative study of bereaved relatives’ end of life experiences during the COVID-19 pandemic
<jats:sec><jats:title>Background:</jats:title><jats:p> Meeting the needs of relatives when a family member is dying can help facilitate better psychological adjustment in their grief. However, end of life experiences for families are likely to have been deleteriously impacted by the COVID-19 crisis. Understanding how families’ needs can be met during a global pandemic will have current/future relevance for clinical practice and policy. </jats:p></jats:sec><jats:sec><jats:title>Aim:</jats:title><jats:p> To explore relatives’ experiences and needs when a family member was dying during the COVID-19 pandemic. </jats:p></jats:sec><jats:sec><jats:title>Design:</jats:title><jats:p> Interpretative qualitative study using semi-structured interviews. Data were analysed thematically. </jats:p></jats:sec><jats:sec><jats:title>Setting/participants:</jats:title><jats:p> A total of 19 relatives whose family member died during the COVID-19 pandemic in the United Kingdom. </jats:p></jats:sec><jats:sec><jats:title>Results:</jats:title><jats:p> In the absence of direct physical contact, it was important for families to have a clear understanding of their family member’s condition and declining health, stay connected with them in the final weeks/days of life and have the opportunity for a final contact before they died. Health and social care professionals were instrumental to providing these aspects of care, but faced practical challenges in achieving these. Results are presented within three themes: (1) entering into the final weeks and days of life during a pandemic, (2) navigating the final weeks of life during a pandemic and (3) the importance of ‘saying goodbye’ in a pandemic. </jats:p></jats:sec><jats:sec><jats:title>Conclusions:</jats:title><jats:p> Health and social care professionals can have an important role in mitigating the absence of relatives’ visits at end of life during a pandemic. Strategies include prioritising virtual connectedness and creating alternative opportunities for relatives to ‘say goodbye’. </jats:p></jats:sec>
Executive function in HIV-affected children and adolescents: a systematic review and meta-analyses.
This review aimed to determine: whether EF is affected in children and adolescents (2-24-years-old) with perinatal HIV infection, perinatal HIV exposure without infection, and behaviourally acquired HIV. A systematic review (PROSPERO number: CRD42017067813) was conducted using 11 electronic databases (01.01.1981-09.07.2019) and 8 conference websites. Primary quantitative studies with EF scores on cognitive tasks and/or behavioural report measures were included. Meta-analyses were performed by EF subtype and subpopulations compared. 1789 records were found. Sixty-one studies were included in the narrative synthesis; 32 (N = 7884 participants) were included in meta-analyses. There was a distinct pattern of reduced EF in those with perinatal HIV infection on antiretroviral therapy compared to controls: pooled effect sizes were largest for verbal and visuospatial working memory, with smaller effects on planning, inhibitory control and set-shifting. Data were limited for other HIV-affected subpopulations. Perinatal HIV infection is associated with reduced EF with varying effect sizes for the different EF subtypes.
Output planning at the input stage in visual working memory
<jats:p>Working memory serves as the buffer between past sensations and future behavior, making it vital to understand not only how we encode and retain sensory information in memory but also how we plan for its upcoming use. We ask when prospective action goals emerge alongside the encoding and retention of visual information in working memory. We show that prospective action plans do not emerge gradually during memory delays but are brought into memory early, in tandem with sensory encoding. This action encoding (i) precedes a second stage of action preparation that adapts to the time of expected memory utilization, (ii) occurs even ahead of an intervening motor task, and (iii) predicts visual memory–guided behavior several seconds later. By bringing prospective action plans into working memory at an early stage, the brain creates a dual (visual-motor) memory code that can make memories more effective and robust for serving ensuing behavior.</jats:p>