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BACKGROUND: In 2011 Mrs A assaulted two people, one who died. In the hours prior to the attack she made multiple attempts to gain help including attending accident and emergency, contact with an inpatient service and the police. Subsequent investigation highlighted that her risk was not well documented or understood. OBJECTIVE: This quality improvement project aimed to improve knowledge and awareness of HCR-20 risk assessments amongst mental health professionals. METHOD: The Quality Improvement approach was taken and various initiatives were introduced to improve knowledge of the location and purpose of the HCR-20 and to ensure that these risk assessments were regularly updated. RESULTS: The results indicated that knowledge relating to the HCR-20 significantly improved amongst staff and breaches of deadlines for updating these risk assessments dramatically declined after the induction of the interventions. CONCLUSION: Including the ‘risk formulation’ and ‘scenarios’ from the HCR-20 in clients’ crisis plans, introducing training relating to the HCR-20, and including discussions relating to the HCR-20 at the beginning of CPA meetings resulted in improved MDT awareness and knowledge of the HCR-20. A broader understanding and awareness of risk factors enabled the service to move towards a culture of risk being everyone’s business.

PurposeTreatment for self-harm remains limited despite research indicating the need to address underlying functions (Slee et al., 2008). Shame and self-criticism are pathogenic processes linked to self-harm (Gilbert & Irons, 2005) therefore CFT (compassion focused therapy) which is designed for shame and self-criticism could be an effective treatment.MethodThis review aimed to synthesise the literature on group based CFT for mental health difficulties with underlying shame and self-criticism and conceptualise how CFT group treatment could be effective for self-harm based on evidence from the papers. A systematic literature search was undertaken and 11 papers were reviewed according to the inclusion criteria which limited references to peer reviewed journal articles in English, from the year 2000 and those pertaining to group based CFT in adult clinical populations. A thematic synthesis was conducted after applying some key questions to the papers.FindingsFour key themes emerged from the thematic synthesis and were discussed with reference to questions around the effectiveness and acceptability of group CFT for addressing shame and self-criticism. The themes were, ‘moving from self-criticism to self-compassion’, ‘aversion to compassion’, ‘group process’ and ‘skills development’.DiscussionEvidence from the papers around CFT group interventions were discussed with reference to their application to the treatment of self-harm in terms of building affiliative connections with others and the development of compassion as an adaptive coping mechanism, decreasing distress and reducing the need to engage in self-harm.

Amy Lawson Moore,1 Terissa M Miller,1 Jeffrey J Moore,1 Christina Ledbetter1,2 1Department of Psychology, Gibson Institute of Cognitive Research, Colorado Springs, CO, USA; 2Department of Neurosurgery, Louisiana State University Health, Shreveport, LA, USACorrespondence: Amy Lawson Moore, Gibson Institute of Cognitive Research, 5085 List Drive, Suite 200-A, Colorado Springs, CO, 80919, USA, Tel +1 719-219-0940, Email amoore@gibsonresearch.orgBackground: The state of reading proficiency among children in the United States continues to be a subject of concern among psychologists, teachers, parents, policy makers, and the education community at large. Despite the widespread use of curricular methods that teach basic reading skills, there remains a large percentage of children that struggle to read. Therefore, novel approaches to reading remediation should be explored.Purpose: The aims of this study were to examine 1) the effect of a multicomponent cognitive and reading intervention on cognitive and reading skills; 2) the role of ADHD, age, sex, IQ score, and individual cognitive skills on the effectiveness of the ReadRx intervention; and 3) parent-reported behavioral outcomes following the ReadRx intervention.Methods: The current study analyzed a large real-world dataset to examine cognitive, reading, and behavioral outcomes for struggling readers (n = 3527) who had completed 24 weeks (120 hours) of intense cognitive training integrated with a structured literacy intervention using ReadRx in a one-on-one clinic setting.Results: Analyses of pretest and post-test scores showed statistically significant changes on all cognitive and reading measures including attention, visual processing, processing speed, long-term memory, working memory, reasoning, phonological awareness, Work Attack, phonetic coding, spelling, comprehension, and overall IQ score with medium to very large effect sizes. The results included an average 4.1-year gain in reading skills including a 6-year gain in phonological awareness. No differences were found based on age, sex, or ADHD status, and minimal differences were found based on pre-intervention IQ score and cognitive test scores. The study also included a qualitative thematic analysis of parent-reported behavioral outcomes revealing themes of improved cognition, academic performance, and psychosocial skills including confidence and perseverance.Conclusion: Our findings were consistent with previous controlled studies on this intervention and offer an encouraging alternative instructional approach to reading remediation that aligns with the Science of Reading and includes intensive remediation of underlying cognitive skills.Keywords: cognitive training, brain training, LearningRx, reading, dyslexia, phonemic awareness, literacy, reading disorder

Context Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. Objective Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac, but long-term follow-up data are needed. Methods In this real-life retrospective cohort study, we investigated the efficacy of Triac in MCT8-deficient patients in 33 sites. The primary endpoint was change in serum T3 concentrations from baseline to last available measurement. Secondary endpoints were changes in other thyroid parameters, anthropometric parameters, heart rate, and biochemical markers of thyroid hormone action. Results From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 years (median 2.2 years; range, 0.2-6.2). Mean T3 concentrations decreased from 4.58 (SD 1.11) to 1.66 (0.69) nmol/L (mean decrease 2.92 nmol/L; 95% CI, 2.61-3.23; P < 0.0001; target 1.4-2.5 nmol/L). Body-weight-for-age exceeded that of untreated historical controls (mean difference 0.72 SD; 95% CI, 0.36-1.09; P = 0.0002). Heart-rate-for-age decreased (mean difference 0.64 SD; 95% CI, 0.29-0.98; P = 0.0005). SHBG concentrations decreased from 245 (99) to 209 (92) nmol/L (mean decrease 36 nmol/L; 95% CI, 16-57; P = 0.0008). Mean creatinine concentrations increased from 32 (11) to 39 (13) µmol/L (mean increase 7 µmol/L; 95% CI, 6-9; P < 0.0001). Mean creatine kinase concentrations did not significantly change. No drug-related severe adverse events were reported. Conclusions Key features were sustainably alleviated in patients with MCT8 deficiency across all ages, highlighting the real-life potential of Triac for MCT8 deficiency.

Background and Purpose: Blood pressure variability (BPV) from beat to beat is associated with an increased risk of cardiovascular events and enables rapid assessment of BPV, but the underlying causes of elevated BPV are unclear. Methods: In consecutive patients within 4 to 6 weeks of transient ischemic attack or nondisabling stroke (OXVASC [Oxford Vascular Study]), continuous noninvasive blood pressure was measured beat to beat over 5 minutes (Finometer). Arterial stiffness was measured by carotid-femoral pulse wave velocity (Sphygmocor). After automated and manual data cleaning, associations between BPV (residual coefficient of variation), demographic factors, and arterial stiffness were determined for both systolic and diastolic blood pressure, by ANOVA and linear models. Relationships between demographic factors and arterial stiffness were determined by interaction terms and mediation. Results: Among 1013 patients, 54 (5.3%) were in AF, and 51 (5%) had low-quality recordings. In a general linear model including the remaining 908 participants, systolic BPV (SBPV) was most strongly associated with age ( P =0.00003), body mass index (BMI; P =0.003), and arterial stiffness ( P =0.008), with weaker independent associations with current smoking ( P =0.01) and a low diastolic blood pressure ( P =0.046). However, while there was a linear increase in SBPV with BMI in men, in women, SBPV was lowest for a BMI in the normal range but was greater below 20 or above 30 (ANOVA, P =0.012; BMI-sex interaction, P =0.03). Although BMI and pulse wave velocity were partially independent, increased pulse wave velocity mediated ≈32% of the relationship between increased BMI and SBPV ( P Conclusions: Vascular aging, manifest as arterial stiffness, was a strong determinant of increased SBPV and partially mediated the effect of increased BMI. However, although high BMI was independently associated with SBPV in both sexes, a low BMI was associated with increased SBPV only in women. SBPV may partially mediate the relationship between BMI and cardiovascular events, while obesity may provide a modifiable target to reduce SBPV and cardiovascular events.

Amy Lawson Moore,1 Terissa M Miller,1 Christina Ledbetter1,2 1Gibson Institute of Cognitive Research, Colorado Springs, CO, USA; 2Department of Neurosurgery, Louisiana State University Health Sciences Center, Shreveport, LA, USACorrespondence: Amy Lawson MooreGibson Institute of Cognitive Research, 5085 List Drive, Suite 200-A, Colorado Springs, CO 80919, USATel +1 719-219-0940Email amoore@gibsonresearch.orgPurpose: The aim of the current study was to examine and report three sources of reliability evidence for the Gibson Assessment of Cognitive Skills, a paper-based, brief cognitive screening tool for children and adults measuring working memory, processing speed, visual processing, logic and reasoning, and three auditory processing constructs: sound blending, sound segmenting, sound deletion along with work attack skills.Sample and Methods: The sample (n = 103) for the current study consisted of children (n = 73) and adults (n = 30) between the ages of 6 and 80 (M = 20.2), 47.6% of which were female and 52.4% of which were male. Analyses of test data included calculation of internal consistency reliability, split-half reliability, and test–retest reliability.Results: Overall coefficient alphas range from 0.80 to 0.94, producing a strong source of internal consistency reliability evidence. The split-half reliability coefficients ranged from 0.83 to 0.96 overall, producing a strong second source of reliability evidence. Across all ages, the test–retest reliability coefficients ranged from 0.83 to 0.98. For adults ages 18 to 80, test–retest reliability coefficients ranged from 0.73 to 0.99. For children ages 6 through 17, test–retest reliability coefficients ranged from 0.89 to 0.97. All correlations were statistically significant at p < 0.001, indicating strong test–retest reliability and stability across administrations.Conclusion: The evidence collected for the current study suggests that the GACS is a reliable brief screening tool for assessing cognitive skill performance in both children and adults.Keywords: cognition, memory test, reasoning test, intelligence test, reading skills

Background Beat-to-beat blood pressure variability is associated with increased stroke risk but its importance at different ages is unclear. Aims To determine the age-sex distribution of blood pressure variability in patients with transient ischemic stroke or minor stroke. Methods In consecutive patients within six weeks of transient ischemic stroke or non-disabling stroke (Oxford Vascular Study), non-invasive blood pressure was measured beat-to-beat over five minutes (Finometer). The age-sex distribution of blood pressure variability (residual coefficient of variation) was determined for systolic blood pressure and diastolic blood pressure. The risk of top-decile blood pressure variability was estimated (logistic regression), unadjusted, and adjusted for age, sex, and cardiovascular risk factors. Results In 908 of 1013 patients, excluding 54 in atrial fibrillation and 51 with low quality recordings, residual coefficient of variation was positively skewed with a median systolic residual coefficient of variation of 4.2% (IQR 3.2–5.5) and diastolic residual coefficient of variation of 3.9% (3.0–5.5), with 90th centile thresholds of 7.2 and 7.3%. Median systolic residual coefficient of variation was higher in patients under 50 years (4.5 and 3.0–5.3) compared to 60–70 years (4.1 and 3.2–5.2), but rose to 4.5% (3.5–6.9) above 80 years, with an increasingly positive skew. The proportion of patients with markedly elevated blood pressure variability in the top-decile increased significantly per decade (OR 1.72, p Conclusions Median beat-to-beat blood pressure variability fell in midlife, reflecting loss of physiological, organized blood pressure variability. However, rates of markedly elevated blood pressure variability significantly increased with greater age, suggesting that blood pressure variability may be particularly important in older patients.

Cerebral arterial pulsatility is strongly associated with cerebral small vessel disease and lacunar stroke yet its dependence on central versus local haemodynamic processes is unclear. In a population-based study of patients on best medical managment, 4–6 weeks after a TIA or non-disabling stroke, arterial stiffness and aortic systolic, diastolic and pulse pressures were measured (Sphygmocor). Middle cerebral artery peak and trough flow velocities and Gosling’s pulsatility index were measured by transcranial ultrasound. In 981 participants, aortic and cerebral pulsatility rose strongly with age in both sexes, but aortic diastolic pressure fell more with age in men whilst cerebral trough velocity fell more in women. There was no significant association between aortic systolic or diastolic blood pressure with cerebral peak or trough flow velocity but aortic pulse pressure explained 37% of the variance in cerebral arterial pulsatility, before adjustment, whilst 49% of the variance was explained by aortic pulse pressure, arterial stiffness, age, gender and cardiovascular risk factors. Furthermore, arterial stiffness partially mediated the relationship between aortic and cerebral pulsatility. Overall, absolute aortic pressures and cerebral blood flow velocity were poorly correlated but aortic and cerebral pulsatility were strongly related, suggesting a key role for transmission of aortic pulsatility to the brain.

Background: Increased cerebral arterial pulsatility is associated with cerebral small vessel disease, recurrent stroke, and dementia despite the best medical treatment. However, no study has identified the rates and determinants of progression of arterial stiffness and pulsatility. Methods: In consecutive patients within 6 weeks of transient ischemic attack or nondisabling stroke (OXVASC [Oxford Vascular Study]), arterial stiffness (pulse wave velocity [PWV]) and aortic systolic, aortic diastolic, and aortic pulse pressures (aoPP) were measured by applanation tonometry (Sphygmocor), while middle cerebral artery (MCA) peak (MCA-PSV) and trough (MCA-EDV) flow velocity and Gosling pulsatility index (PI; MCA-PI) were measured by transcranial ultrasound (transcranial Doppler, DWL Doppler Box). Repeat assessments were performed at the 5-year follow-up visit after intensive medical treatment and agreement determined by intraclass correlation coefficients. Rates of progression and their determinants, stratified by age and sex, were determined by mixed-effects linear models, adjusted for age, sex, and cardiovascular risk factors. Results: In 188 surviving, eligible patients with repeat assessments after a median of 5.8 years. PWV, aoPP, and MCA-PI were highly reproducible (intraclass correlation coefficients, 0.71, 0.59, and 0.65, respectively), with progression of PWV (2.4%; P P P =0.22). However, PWV increased at a faster rate with increasing age (0.009 m/s per y/y; P P P =0.009). Higher aortic systolic blood pressure and diastolic blood pressure predicted a greater rate of progression of PWV and aoPP, but not MCA-PI, although current MCA-PI was particularly strongly associated with concurrent aoPP ( P Conclusions: Arterial pulsatility and aortic stiffness progressed significantly after 55 years of age despite the best medical treatment. Progression of stiffness and aoPP was determined by high blood pressure, but MCA-PI predominantly reflected current aoPP. Treatments targetting cerebral pulsatility may need to principally target aortic stiffness and pulse pressure to have the potential to prevent cerebral small vessel disease.

Introduction: One in four Canadian women experience intimate partner violence (IPV) in their lifetime. The COVID-19 pandemic has significantly increased rates of IPV globally and the level of violence encountered, exposing IPV survivors to greater risk of physical injury, including traumatic brain injury (TBI). Up to 75% of survivors are suspected of sustaining a TBI and 50-75% experience mental health or substance use challenges (MHSU) as a result of IPV, resulting in extensive personal, social, and economic implications. Objective: The objective of this scoping review was to synthesize what is currently known in the literature about MHSU and TBI among survivors of IPV and identify gaps. Methods: MEDLINE, EMBASE, PsycINFO, CINAHL, Cochrane, Scopus, and Web of Science were searched for relevant articles using a search strategy including text words and subject headings related to TBI, IPV, and MHSU. Two reviewers independently assessed articles for inclusion. Results: The search identified 399 unique articles, 34 of which were included in this study. Of these, 11 articles reported on MHSU in IPV-related TBI and 9 articles reported on both TBI and MHSU in IPV but did not discuss the groups together. The remainder were reviews or theses that noted MHSU in IPV-related TBI. Included articles predominantly focused on cis-gendered women in heterosexual relationships and were conducted in the United States. Only three articles focused on the experiences of Black or Indigenous women and none of the included studies discussed implications of co-occurring TBI and MHSU on survivor’s healthcare-related needs or access to care. Conclusions: Despite the high rates of co-occurring TBI and MHSU among survivors of IPV, there is little research on this intersection and no investigation of the impacts on the health system. Future research should focus on identifying the healthcare-related needs of survivors and identifying and mitigating barriers to access.

Background Cerebral small vessel disease (SVD) is associated with increased cerebrovascular pulsatility, endothelial dysfunction, and impaired vascular reactivity. Vasodilating phosphodiesterase inhibitors may improve cardiovascular pulsatility and reactivity, and potentially reduce progression of SVD. Hypothesis: Sildenafil, a PDE5 inhibitor, will reduce cerebrovascular pulsatility and increase cerebrovascular reactivity compared to placebo, and is non-inferior to cilostazol, a PDE3 inhibitor. Methods OxHARP is a randomised, double-blind, crossover trial of sildenafil 50 mg thrice daily, cilostazol 100 mg twice daily and placebo in 75 patients with mild to moderate small vessel disease and a previous lacunar or cryptogenic stroke or TIA. Participants undergo a physiological assessment at baseline and on each treatment, including transcranial Doppler ultrasound (TCD, DWL DopplerBox) to assess cerebrovascular pulsatility and reactivity to 4–6% carbon dioxide. In up to 60 patients, cerebrovascular pulsatility, perfusion and reactivity will also be assessed by MRI. Outcome measures The primary outcome is difference in middle cerebral artery pulsatility (Gosling’s Pulsatility Index, PI) after 3 weeks of sildenafil versus placebo. Secondary outcomes including non-inferiority of sildenafil vs cilostazol in effects on PI, percentage increase in MCA blood flow velocity and BOLD-fMRI response during inhalation of 4–6% carbon dioxide. Discussion Reduction in cerebral pulsatility and increased cerebrovascular reactivity during treatment with sildenafil would indicate potential benefit to prevent progression of SVD, suggesting a need for trials with clinical outcomes. Trial Registration OxHARP is registered with ClinicalTrials.org, NCT03855332

Contains fulltext : 220431.pdf (Publisher’s version ) (Closed access) BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1.5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score

Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal electroencephalogram (EEG) findings., Although there are numerous reports of heterozygous 15q13.3 microdeletion, homozygous 15q13.3 microdeletion is rare. We report a new patient with homozygous microdeletion of 15q13.2q13.3 and review the previous literature reports. Common clinical features include encephalopathy, hypotonia, developmental delay, cortical vision impairment, optic nerve abnormality, epilepsy, and abnormal EEG findings.

Purpose Religion and spirituality are well-researched concepts within the field of psychology and mental health yet they have rarely been researched in high-secure services within the UK. Research in mental health and prison contexts suggests benefits of religion/spirituality to coping, social support, self-worth, symptoms of depression and anxiety and behavioural infractions. The purpose of this paper is to investigate the role of religion/spirituality in high-secure service users’ personal recovery. Design/methodology/approach Semi-structured interviews were carried out with 13 male patients in a high-secure hospital, with primary diagnoses of mental illness (n=11) or personality disorder (n=2). Participants were from a range of religious/spiritual backgrounds and were asked about how their beliefs impact their recovery and care pathways within the hospital. Data were analysed using interpretative phenomenological analysis. Findings Three superordinate themes were identified: “religion and spirituality as providing a framework for recovery”; “religion and spirituality as offering key ingredients in the recovery process”; and “barriers to recovery through religion/spirituality”. The first two themes highlight some of the positive aspects that aid participants’ recovery. The third theme reported hindrances in participants’ religious/spiritual practices and beliefs. Each theme is discussed with reference to sub-themes and illustrative excerpts. Practical implications Religion/spirituality might support therapeutic engagement for some service users and staff could be more active in their enquiry of the value that patients place on the personal meaning of this for their life. Originality/value For the participants in this study, religion/spirituality supported the principles of recovery, in having an identity separate from illness or offender, promoting hope, agency and personal meaning.

Supplemental Digital Content is available in the text., Beat-to-beat variability in blood pressure (BP) is associated with recurrent stroke despite good control of hypertension. However, no study has identified rates of progression of beat-to-beat BP variability (BPV), its determinants, or which patient groups are particularly affected, limiting understanding of its potential as a treatment target. In consecutive patients one month after a transient ischaemic attack or nondisabling stroke (Oxford Vascular Study), continuous noninvasive BP was measured beat-to-beat over 5 minutes (Finometer). Arterial stiffness was measured by carotid-femoral pulse wave velocity (Sphygmocor). Repeat assessments were performed at the 5-year follow-up visit and agreement determined by intraclass correlation coefficient. Rates of progression of systolic BPV (SBPV) and diastolic BPV (DBPV) and their determinants were estimated by mixed-effect linear models, adjusted for age, sex, and cardiovascular risk factors. One hundred eighty-eight of 310 surviving, eligible patients had repeat assessments after a median of 5.8 years. Pulse wave velocity was highly reproducible but SBPV and DBPV were not (intraclass correlation coefficient: 0.71, 0.10, and 0.16, respectively), however, all 3 progressed significantly (pulse wave velocity, 2.39%, P

Purpose The purpose of the current study is to evaluate the validity and reliability of the revised Gibson Test of Cognitive Skills, a computer-based battery of tests measuring short-term memory, long-term memory, processing speed, logic and reasoning, visual processing, as well as auditory processing and word attack skills. Methods This study included 2,737 participants aged 5–85 years. A series of studies was conducted to examine the validity and reliability using the test performance of the entire norming group and several subgroups. The evaluation of the technical properties of the test battery included content validation by subject matter experts, item analysis and coefficient alpha, test–retest reliability, split-half reliability, and analysis of concurrent validity with the Woodcock Johnson III Tests of Cognitive Abilities and Tests of Achievement. Results Results indicated strong sources of evidence of validity and reliability for the test, including internal consistency reliability coefficients ranging from 0.87 to 0.98, test–retest reliability coefficients ranging from 0.69 to 0.91, split-half reliability coefficients ranging from 0.87 to 0.91, and concurrent validity coefficients ranging from 0.53 to 0.93. Conclusion The Gibson Test of Cognitive Skills-2 is a reliable and valid tool for assessing cognition in the general population across the lifespan., Video abstract

Research Objectives Explore employment and mental health related barriers and facilitators, service needs, and priorities for women survivors of intimate partner violence (IPV) with traumatic brain injury (TBI) and develop stakeholder informed knowledge translation (KT) materials and implement them through the Abused & Brain Injured Toolkit. Design Two sequential projects: one exploring knowledge and service gaps, and the second to develop KT materials to address those gaps. Data were collected via focus groups and semi-structured interviews. Reporting shall follow the consolidated criteria for reporting qualitative research. Setting Community-based, participatory research model with data collection taking place online via phone or videoconference interviews, online surveys, and email. Participants A convenience sample of key stakeholders including frontline workers, executive directors/program managers in the IPV sector, women survivors of IPV, health care professionals, and employers. 24 stakeholders participated in interviews or focus groups to inform development of the KT materials and were invited to provide feedback mid-design. Interventions N/A. Main Outcome Measures We engaged in member checking to seek feedback on the prototype KT materials. Results Based on identified gaps and stakeholder input, two KT modules, one for employment and one for mental health, were developed for our existing online educational toolkit (Abused and Brain Injured Toolkit, abitoolkit.ca). Survivors’ employment needs fell into two main categories, maintaining employment and obtaining employment. Mental health related challenges centred on difficulties parsing impacts of brain injury from mental health. Conclusions TBI knowledge among IPV service providers is increasing. As it does, additional education and resources will be needed to support survivors in various aspects of their lives. The development of KT modules directly addresses this, broadening available educational material in this area. Author(s) Disclosures The authors have no disclosures to report.

Purpose The impact of attention problems on academic and social functioning coupled with the large number of children failing to respond to stimulant medication or behavioral therapy makes adjunctive therapies such as cognitive training appealing for families and clinicians of children with attention difficulties or childhood attention deficit hyperactivity disorder. However, the results of cognitive training studies have failed to find far transfer effects with this population. This study examined the quantitative cognitive effects and parent-reported behavioral effects of a clinician-delivered cognitive training program with children who have attention problems. Patients and methods Using a randomized controlled study design, we examined the impact of a clinician-delivered cognitive training program on processing speed, fluid reasoning, memory, visual processing, auditory processing, attention, overall intelligence quotient score, and behavior of students (n=13) aged 8–14 years with attention problems. Participants were randomly assigned to either a waitlist control group or a treatment group for 60 hours of cognitive training with ThinkRx, a clinician-delivered intervention that targets multiple cognitive skills with game-like, but rigorous mental tasks in 60–90-minute training sessions at least 3 days per week. Results Results included greater mean pretest to posttest change scores on all variables for the treatment group versus the control group with statistically significant differences noted in working memory, long-term memory, logic and reasoning, auditory processing, and intelligence quotient score. Qualitative outcomes included parent-reported changes in confidence, cooperation, and self-discipline. Conclusion Children with attention problems who completed 60 hours of clinician-delivered ThinkRx cognitive training realized both cognitive and behavioral improvements., Video abstract

Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. Missense variants reported previously appear to be associated with severe ID in males and mild or no ID in obligate carrier females. Here, we report the largest cohort of patients with HUWE1 variants, consisting of 14 females and 7 males, with 15 different missense variants and one splice site variant. Clinical assessment identified common clinical features consisting of moderate to profound ID, delayed or absent speech, short stature with small hands and feet and facial dysmorphism consisting of a broad nasal tip, deep set eyes, epicanthic folds, short palpebral fissures, and a short philtrum. We describe for the first time that females can be severely affected, despite preferential inactivation of the affected X chromosome. Three females with the c.329 G > A p.Arg110Gln variant, present with a phenotype of mild ID, specific facial features, scoliosis and craniosynostosis, as reported previously in a single patient. In these females, the X inactivation pattern appeared skewed in favour of the affected transcript. In summary, HUWE1 missense variants may cause syndromic ID in both males and females.

Background: Prevention of secondary spinal injury via spinal protection measures is a standard component of trauma management, and a high-quality spinal clearance process is imperative in achieving this aim. To evaluate the current practice with a view to achieving best practice, we sought to examine the spinal clearance process and outcomes at a regional Australian referral hospital, which services a large geographical catchment area. Methods: A retrospective review of medical records of all patients with major trauma who presented to an Australian regional hospital during 2014 was conducted. The primary outcome measure was missed or delayed diagnosis of spinal injury. Secondary outcome measures included compliance with internationally accepted spinal clearance process measures, timing and choice of appropriate imaging modalities, rates of spinal injury and documentation of spinal clearance. Results: Of the 112 patients with major trauma who met the study eligibility criteria and were discharged from hospital during the study period from 1 January to 31 December 2014, 11 spinal injuries were missed or delayed in diagnosis. The injuries occurred in 3.6% of patients and all were thoracolumbar spine (TLS) injuries. The predominant reasons for missed or delayed diagnosis were reduced sensitivity of plain X-ray compared with computed tomography for spinal injury screening and incomplete full spinal imaging to detect non-contiguous fractures. Conclusion: Evidence-based clinical decision rules are imperative in ascertaining the need for imaging in the TLS and would be enhanced by an internationally recognised definition of clinical significance based on injury morphology rather than clinician management decision alone. In addition, regional hospitals may have limited capacity to achieve spinal clearance, and other trauma quality assurance standards commensurate with national and international benchmarks without the valuable performance feedback provided by state trauma registries, as is currently the case in Queensland.

(1) Background: The current study examined a multifaceted anti-neuroinflammatory intervention that included physical exercise, mental exercise, grain-free/sugar-free diet, anti-inflammatory nutritional supplements, sleep optimization, and stress management within the context of a functional medicine practice for five patients with varying levels of cognitive impairment. (2) Methods: In a prospective chart review, we examined impact measures including assessment of cognitive skills, brain connectivity, and daily functioning. (3) Results: Three of the five patients were no longer classified as cognitively impaired, while a fourth patient improved from moderately-to-severely impaired to mildly impaired. Patients reported improved memory, mental clarity, and outlook on life. fMRI analyses revealed changes in brain connectivity and efficiency. (4) Conclusions: The current study provides preliminary support for and feasibility of the use of a multi-component approach to slowing cognitive decline.

List of key featuresBrachycephalyMicrocephalyProminent mandibule/prognathismStiffness/arthritisThick/stiff skinBrachydactylyDeep-set eyesShort stature, prenatal onsetFusion of vertebraeThick/wide ribsMental retardation/developmental delayAtaxiaIntroductionMyhre syndrome (MIM 139210) is a rare disord

Neuroligin 4 (NLGN4) is a member of a cell adhesion protein family that appears to play a role in the maturation and function of neuronal synapses. Mutations in the X-linked NLGN4 gene are a potential cause of autistic spectrum disorders, and mutations have been reported in several patients with autism, Asperger syndrome, and mental retardation. We describe here a family with a wide variation in neuropsychiatric illness associated with a deletion of exons 4, 5, and 6 of NLGN4. The proband is an autistic boy with a motor tic. His brother has Tourette syndrome and attention deficit hyperactivity disorder. Their mother, a carrier, has a learning disorder, anxiety, and depression. This family demonstrates that NLGN4 mutations can be associated with a wide spectrum of neuropsychiatric conditions and that carriers may be affected with milder symptoms.