A Brief Cognitive Analytic Therapy-Informed Approach for Young People That Have Self-Injured (CATCH-Y): A Case Series.

BACKGROUND: Non-suicidal self-injury (NSSI) presents an increasingly prevalent problem for young people; however, there remains a scarce evidence base for effective, scalable treatments for adolescents. This study aimed to assess the feasibility and acceptability of a brief, cognitive analytic therapy (CAT)-informed intervention for young people who engage in NSSI (CATCH-Y). METHODS: A case series design recruited 13 young people who met the inclusion and exclusion criteria to participate in the five-session intervention. Eligible participants were aged 13-17 years (M = 15.15, SD = 1.28) and had engaged in NSSI at least once in the previous 6 months. Feasibility and acceptability were measured via recruitment, retention, qualitative feedback and missing data. The secondary outcome measures of personal recovery and motivation were administered pre- and post-assessment, with measures of depressive symptoms and urges to self-injure. RESULTS: The intervention was found to be largely feasible and acceptable with high rates of recruitment, retention and pre-/post-assessment data completeness. Measures showed preliminary support for positive change in rates of NSSI, urges to self-harm, low mood and personal recovery, although results were mixed. Completion rates for remote assessments were low. CONCLUSIONS: The findings of this study support further evaluation of the CATCH-Y intervention on a larger scale. In-person assessments may be preferable to remote to ensure good completion rates.

Predictive factors and screening strategy for obstructive sleep apnea in patients with advanced multiple sclerosis.

BACKGROUND: Obstructive sleep apnea (OSA) screening questionnaires have been evaluated in Multiple Sclerosis (MS) but not yet validated in patients with advanced disease. The aim of this study is to identify OSA predictive factors in advanced MS and to discuss screening strategies. METHODS: Oximetry data from 125 patients were retrospectively derived from polysomnographic reports. Univariate and multivariate analysis were used to determine predictive factors for OSA. A two-level screening model was assessed combining the oxygen desaturation index (ODI) and a method of visual analysis. RESULTS: multivariate analysis showed that among the clinical factors only age and snoring were associated with OSA. Usual predictive factors such as sleepiness, Body mass index (BMI) or sex were not significantly associated with increased Apnea Hypopnea Index (AHI). The ODI was highly predictive (p < 0.0001) and correctly identified 84.1 % of patients with moderate OSA and 93.8 % with severe OSA. The visual analysis model combined with the ODI did not outperform the properties of ODI used alone. CONCLUSION: As the usual clinical predictors are not associated with OSA in patients with advanced MS, questionnaires developed for the general population are not appropriate in these patients. Nocturnal oximetry seems a pertinent, ambulatory and accessible method for OSA screening in this population.

Management of obstructive sleep apnea syndrome type 1 in children and adolescents - A French consensus.

This document is the outcome of a group of experts brought together at the request of the French Society of Sleep Research and Medicine to provide recommendations for the management of obstructive sleep apnea syndrome type 1 (OSA1) in children. The recommendations are based on shared experience and published literature. OSA1 is suspected when several nighttime respiratory symptoms related to upper airway obstruction are identified on clinical history taking. A specialist otolaryngologist examination, including nasofibroscopy, is essential during diagnosis. A sleep study for OSA1 is not mandatory when at least two nighttime symptoms (including snoring) are noted. Therapeutic management must be individualized according to the location of the obstruction. Ear, nose, and throat (ENT) surgery is often required, as hypertrophy of the lymphoid tissues is the main cause of OSA1 in children. According to clinical findings, orthodontic treatment generally associated with specialized orofacial-myofunctional therapy might also be indicated. Whatever treatment is chosen, follow-up must be continuous and multidisciplinary, in a network of trained specialists.

Non-invasive ventilation in neuromuscular diseases: should we use higher levels of ventilatory support?

PURPOSE: In patients with COPD, one of the leading indications for domiciliary non-invasive ventilation (NIV), a major paradigm shift has been observed over the past decade in the method for adjusting NIV settings, with the use of sufficient ventilatory support to achieve a significant reduction in PaCO2. Whether this approach may be relevant to other populations, especially slowly progressive neuromuscular diseases (NMD), is unknown. METHODS: This study was conducted as a post hoc analysis from a previously published randomized controlled trial (NCT03458507). Patients with NMD treated with domiciliary NIV were stratified according to the level of ventilatory support: high-level tidal volume (HLVT; mL/kg of predicted body weight [PBW]) or high-level pressure support (HLPS), defined as a value above median value of the whole population (> 6.8 mL/kgPBW or 9.0 cmH2O, respectively). Primary outcome was mean nocturnal transcutaneous CO2 pressure (PtcCO2). Secondary outcomes included adherence to NIV, leaks, and side effects. RESULTS: Of a total of 26 patients, 13 were exposed to HLVT, with significantly lower nocturnal PtcCO2 (respectively 40.5 ± 4.2 vs. 46.3 ± 3.9 mmHg, p = 0.002). A linear correlation between VT (mL/kgPBW) and mean nocturnal PtcCO2 was evidenced (r = - 0.59, 95%CI [- 0.80; - 0.25], p = 0.002). No significant impact of HLVT was found on secondary outcomes. CONCLUSION: Despite the lack of power of this post hoc analysis, our results suggest that higher levels of ventilatory support are correlated with lower PtcCO2 in patients with NMD. Further studies are desirable to assess the extent to which the level of assistance influences PaCO2 evolution in patients with slowly progressive NMD, as well as in restrictive thoracic disorders.

[Does a short telemedicine-based CBT programme for insomnia lead to changes in dysfunctional beliefs about sleep?] / Un programme court de TCCi en groupe par visioconférence dans l'insomnie modifie-t-il les croyances erronées ?

INTRODUCTION: The Morphee Sleep network runs a short group CBT programme. During the pandemic, the programme was administered by videoconference. The programme focuses on behavioral modification. The objective of our study was to evaluate whether the videoconference programme produced changes in dysfunctional beliefs about sleep and whether these changes were linked to improvements in insomnia. METHODS: Observational study of 3×90minute sessions of group CBT by videoconference over one month delivered by experienced psychologists. The outcome measures : insomnia severity scale (ISI), dysfunctional beliefs and attitudes about sleep short version (DBAS 16), hospital anxiety and depression scale (subscales depression HADD and anxiety HADA), and epworth sleepiness scale (ESS) completed before session 1 and at the end of session 3. The effectiveness of the programme on insomnia was evaluated by the decrease in the ISI score : full response R+ (>7 points), partial response, R- (4 - 6 points) non response, NR (<3 points). The effect on dysfunctional beliefs and attitudes about sleep were measured by the decrease in the DBAS 16 with response CR (>9 points) and no response CNR (<9 points). RESULTS: There were fifty-five participants, 64 % women with a mean age of 49.1±16.1 years. The DBAS 16 was reduced by 6.12±1.29 to 5.09±1.57 (P< 0.0001) with 67 % of participants showing a response CR. The ISI score reduced from 17.7±3.6 to 14.0±4.9 (P< 0.0001) with 49 % showing at least a partial response (R+ and R-). A significant correlation (0.327, P=0.015) between the CBT response and dysfunctional beliefs about sleep was observed with a significant reduction in the DBAS 16 between responders R+ and non-responders (R+ vs. NR 1.67±1.3 vs. 0.57±1.28 P=0.012). Seventy-nine of R+ showed improvements in the DBAS 16 vs. 69 % of R- and 61 % of non-responders NR. CONCLUSION: A short group CBT programme by videoconference focused on behavioral modification can reduce dysfunctional beliefs about sleep.

Clinical trial management: a profession in crisis?

Clinical trial managers play a vital role in the design and conduct of clinical trials in the UK. There is a current recruitment and retention crisis for this specialist role due to a complex set of factors, most likely to have come to a head due to the COVID-19 pandemic. Academic clinical trial units and departments are struggling to recruit trial managers to vacant positions, and multiple influences are affecting the retention of this highly skilled workforce. Without tackling this issue, we face major challenges in the delivery on the Department of Health and Social Care's Future of UK Clinical Research Delivery implementation plan. This article, led by a leading network of and for UK Trial Managers, presents some of the issues and ways in which national stakeholders may be able to address this.

Language and executive functioning in young adults with Down syndrome.

BACKGROUND: This study examined the association between executive functioning and language in young adults with Down syndrome (DS). METHOD: Nineteen young adults with DS (aged 19-24 years) completed standardised measures of overall cognition, vocabulary, verbal fluency and executive function skills. RESULTS: Friedman's analysis of variance (χ2 (3) = 28.15, P < .001) and post hoc comparisons indicated that, on average, participants had a significantly lower overall non-verbal than verbal cognitive age equivalent and lower expressive than receptive vocabulary skills. Using Spearman correlations, performance on a verbal measure of cognition inhibition was significantly negatively related to receptive vocabulary (ρ = -.529, adjusted P = .036) and verbal fluency (ρ = -.608, adjusted P = .022). Attention was significantly positively correlated with receptive (ρ = .698, adjusted-p = .005) and expressive (ρ = .542, adjusted P = .027) vocabulary. Verbal working memory was significantly positively associated with receptive vocabulary (ρ = .585, adjusted P = .022) and verbal fluency (ρ = .737, adjusted P = .003). Finally, visuospatial working memory was significantly associated with receptive vocabulary (ρ = .562, adjusted P = .027). CONCLUSIONS: Verbal and non-verbal measures of executive functioning skills had important associations with language ability in young adults with DS. Future translational research is needed to investigate causal pathways underlying these relationships. Research should explore if interventions aimed at increasing executive functioning skills (e.g. attention, inhibition and working memory) have the potential to lead to increases in language for young adults with DS.

[The effects of quarantine for SARS-CoV-2 on sleep: An online survey]. / Les effets de confinement SARS-CoV-2 sur le sommeil : enquête en ligne au cours de la quatrième semaine de confinement.

OBJECTIVES: Explore the evolution of sleep during the SARS-CoV-2 quarantine period and define associated factors. METHODS: An online survey of patients in quarantine. Questions targeted the conditions of quarantine, sleep related behaviours and exposure to factors known to affect sleep and circadian rhythms (light exposure and sport). RESULTS: In all, 1777 participants were included: 77% women and 72% aged 25-54 years. Quarantine conditions were most frequently in couples with children (36%) and in a house with a garden (51%). Forty-seven percent of participants reported a decrease in sleep quality during quarantine. Factors associated with a reduction in sleep quality by logistic regression were sleep reduction (OR 15.52 P<0.001), going to bed later (OR 1.72 P<0.001), getting up earlier (2.18 P=0.01), an increase in sleep-wake irregularity (OR 2.29 P<0.001), reduced exposure to daylight (OR 1.46 P=0.01) and increased screen use in the evenings (OR 1.33 P=0.04). CONCLUSION: Sleep quality tended to reduce during quarantine and this was associated with changes in sleep behaviours and light exposure, especially in the evening. In order to optimise sleep during quarantine, regular sleep and wake times, at least 1hour exposure to daylight and a reduction of screen use in the evenings are suggested.

Physiological arousal and observed behaviour in parent-child interactions involving young children with Down syndrome.

BACKGROUND: Parents of children with Down syndrome (DS) play an important role in their child's development. Physiological measures, such as electrodermal activity (EDA), can shed light on parent-child relations beyond the behavioural level. The goals of the current study were to assess the feasibility of collecting EDA data in preschool age children with DS, examine the association between parent and child EDA during play-based interactions, and investigate the relation between parent and child EDA and observed parent behaviours. METHOD: Two parents in 15 families participated in dyadic free play interactions with their child with DS (i.e., 15 mother-child and 15 father-child interactions). The children with DS (aged 24-61 months) and both of their parents wore multisensory wristbands measuring EDA. Parent behaviours were coded as requests for behavioural complies, requests for verbal complies, or comments. RESULTS: Usable EDA data were collected for 13/15 children and 11/15 mothers during the mother-child interactions and 14/15 children and 12/15 fathers during the father-child interactions. Parent and child EDA variability was significantly positively related for father-child but not mother-child dyads. Maternal use of requests for behavioural complies was positively related to child EDA variability. CONCLUSIONS: The collection of EDA data through wristbands worn by young children with DS during early parent-child interactions was feasible. Preliminary findings indicated that some aspects of parent and child physiology in DS may be related in different ways for mother-child and father-child dyads.

[Factors associated with the type of mask used during nocturnal NIV in patients with neuromuscular disorders]. / Facteurs associés au masque de ventilation non invasive nocturne chez les patients neuromusculaires adultes.

In subjects with neuromuscular diseases (NMD), the choice of facemask is essential for successful long-term noninvasive ventilation (NIV). While nasal masks usually represent the first line of treatment, almost a third of our subjects with NMD use an oro-nasal interface. Factors associated with the choice of mask remain poorly understood. We provide an original analysis of a previous prospective, multi-centric, Franco-Belgian survey investigating the factors associated with the type of nocturnal mask used in 116 adult NMD subjects treated with NIV. In these patients oro-nasal mask use was more often associated with non-Duchenne muscular dystrophy, older subjects, higher body mass index, better upper limb autonomy allowing independent mask removal and shorter periods of ventilation. Controlled prospective studies are needed to compare the efficacy and tolerance of different interfaces in this specific population.

The mechanics of setting up a COVID-19 response: Experiences of the COVID-19 epidemic from Groote Schuur Hospital, Cape Town, South Africa

The COVID-19 pandemic has challenged the provision of healthcare in ways that are unprecedented in our lifetime. Planning for the sheer numbers expected during the surge has required public hospitals to de-escalate all non-essential clinical services to focus on COVID-19. Western Cape Province was the initial epicentre of the COVID-19 epidemic in South Africa (SA), and the Cape Town metro was its hardest-hit geographical region. We describe how we constructed our COVID-19 hospital-wide clinical service at Groote Schuur Hospital, the University of Cape Town's tertiary-level teaching hospital. By describing the barriers and enablers, we hope to provide guidance rather than a blueprint for hospitals elsewhere in SA and in low-resource countries that face similar challenges now or during subsequent waves

Constant Isothiocyanate-Release Potentials across Biofumigant Seeding Rates.

Biofumigation is an integrated pest-management method involving the mulching of a glucosinolate-containing cover crop into a field in order to generate toxic isothiocyanates (ITCs), which are effective soil-borne-pest-control compounds. Variation in biofumigation efficacy demonstrates a need to better understand the factors affecting pest-control outcomes and develop best practices for choosing biofumigants, growth conditions, and mulching methods that allow the greatest potential isothiocyanate release. We measured the glucosinolate concentrations of six different commercial varieties of three biofumigant plant species: Brassica juncea (ISCI99, Vitasso, and Scala) Raphanus sativus (Diablo and Bento), and Sinapis alba (Ida Gold). The plants were grown in the range of commercially appropriate seeding rates and sampled at three growth stages (early development, mature, and 50% flowering). Within biofumigant species, the highest ITC-release potentials were achieved with B. juncea cv. ISCI99 and R. sativus cv. Bento. The highest ITC-release potential occurred at the 50% flowering growth stage across the species. The seeding rate had a minor impact on the ITC-release potential of R. sativus but had no significant effects on the ITC-release potentials of the B. juncea or S. alba cultivars.

[The use of social media modifies teenagers' sleep-related behavior]. / Nouveaux médias sociaux, nouveaux comportements de sommeil chez les adolescents.

OBJECTIVE: Modification of sleep behaviors in teenagers has been observed over the past 30years with a reduction in overall sleep time and an increasing number of teenagers suffering from sleep deprivation. Sleep deprivation is linked to physical problems such as obesity but also to change in performance at school and mood disorders. Changes have been associated with the use of screens, cell phones, Internet and social media. Use of screens has been shown to delay sleep onset and melatonin secretion and stimulation of wake systems by interaction with social media may exacerbate these effects. The links between the use of social media and sleep patterns have not been fully explored. Our study aimed to evaluate the effects of social media on teenagers' sleep and the impact of sleep deprivation. METHODOLOGY: As part of a sleep education program conducted in middle schools, teenagers from 6th to 9th grade were invited to complete an online questionnaire on sleep habits with teacher supervision and after parental consent. Outcome measures were sleep and wake times with estimated sleep duration in school (SP) and rest periods (RP), use of screens (computers, tablets, smartphones and video game consoles), the use of social media and impact on visual analogue scales of sleep quality, mood and daytime functioning. Students were divided into those with clear sleep deprivation (sleep time<6hours in SP) and those whose sleep time was in line with the National Sleep Foundations recommended sleep needs for teenagers (9hours or more). RESULTS: A total of 786 questionnaires were completed and 776 were exploitable. Four schools took part with 408/786 girls (64.2 %) and a mean age of 12.4±1.24. Internet access was almost universal (98.3 %), 85.2 % had cell phones and 42.7 % had a personal computer in their bedroom. Social media was used by 64.6 %. After dinner, 52.6 % spent more than an hour and 14.7 % spent more than 2hours in front of a screen. After bedtime, 51.7 % regularly used electronic devices of which 25.6 % had a screen-based activity (e.g. texts, social media, video games or television). During the night, some teens woke up to continue screen-based activities: 6.1 % in order to play online video games, 15.3 % to send texts and 11 % to use social media. Bedtimes were later in PR compared with PS (22h06±132 vs. 23h54±02; P<0.0001) as were wake times (7h06±36 vs. 10h06±102; P<0.0001). Sleep time was clearly longer in PR (10h12±126 P<0.0001) compared to PS. For students in 6th grade compared to 9th grade in sleep duration in SP decreased (8:55±90 vs. 7:25±93; P<0.0001), whereas sleep duration during RP was stable (10h08±118 vs. 10h08±90 P<0.029). No significant difference was found between girls and boys for sleep duration, sleep quality, performance during the day or mood. Sleep deprivation during the week (6hours or less) was less common in 6th graders 5 % vs. 15 % (P<0.0001). In sleep deprived teens compared to teens sleeping, the recommended ≥9hours, difficulties falling asleep were reported with 33 % vs. 9 % taking over an hour to fall asleep (P<0.0001) and difficulties getting up in the morning were more common (7.05±3.27 vs. 5.74±2.97; P=0.0003). Sleep deprivation had an effect on daytime performance: teenagers deprived of sleep were more likely to report a need to fight sleepiness, (5.93±3.24 vs. 2.84±2.44 P<0.0001) and had reduced energy during the day (6.21±2.86 vs. 7.77±2.07 P<0.0001). A negative effect on mood was evident: in sleep, deprived teenagers irritability (5.28±3.12 vs. 3.30±2.34; P<0.0001) and feelings of sadness (3.97±2.99 vs. 2.59±2.15; P=0.003) were more common. There was a clear association between sleep deprivation and access to screens and social media: sleep deprived teens were at more risk of nocturnal disruption with a higher prevalence of computers (67 % vs. 33 %; P<0.0001), cell phones (99 % vs. 80 %; P=0.0001) and smart phones (85 % vs. 66 %; P=0.0001) in their bedrooms. CONCLUSIONS: Access to social media and especially a cell phone in teenagers' bedrooms is associated with a reduction in sleep time during the school week with negative effects on daily functioning and mood which increases with increasing age. Education about use of social media and sleep for teenagers needs to start early as modifications in sleep and evening use of screens was present on our population from 11years on and to involve parents as setting parent controlled bedtimes has been shown to increase teenage sleep time.

Spatial and temporal distribution, environmental drivers and community structure of mosquitoes in the Kaipara Harbour, New Zealand.

Mosquito communities across the globe frequently comprise a mix of native and cosmopolitan species. New Zealand's mosquito communities are no exception. Here we describe the abundance, distribution and phenological patterns for a community of six mosquito taxa resident across the Kaipara Harbour region of northern New Zealand. Adult mosquitoes were sampled using baited light traps, serviced biweekly for 3½ years. Seasonal fluctuations in abundance of adults were examined for correlations with temperature and rainfall over the preceding weeks. Four endemic species comprised over 98% of the total catch, with Coquillettidia iracunda being the most abundant. Two introduced species, Aedes notoscriptus and Culex quinquefasciatus were widely distributed, but each comprised <1% of the total catch. Culiseta tonnoiri was the only species that appeared geographically restricted, occurring at one-third of the sites. Distinct temporal peaks in adult abundance were evident: Aedes antipodeus was most abundant in spring, Ae. notoscriptus and Cq. iracunda were most abundant in summer and Cx. quinquefasciatus was most abundant in autumn. Culiseta tonnoiri and Culex pervigilans were of variable abundance throughout the year. For all species examined, temporal variations in abundance were more strongly associated with temperature in the preceding weeks than with preceding rainfall. A better knowledge of the factors driving patterns of spatial and temporal abundance will allow an improved understanding of how non-native species may integrate themselves into resident mosquito communities.

Development of an efficient glucosinolate extraction method.

BACKGROUND: Glucosinolates, anionic sulfur rich secondary metabolites, have been extensively studied because of their occurrence in the agriculturally important brassicaceae and their impact on human and animal health. There is also increasing interest in the biofumigant properties of toxic glucosinolate hydrolysis products as a method to control agricultural pests. Evaluating biofumigation potential requires rapid and accurate quantification of glucosinolates, but current commonly used methods of extraction prior to analysis involve a number of time consuming and hazardous steps; this study aimed to develop an improved method for glucosinolate extraction. RESULTS: Three methods previously used to extract glucosinolates from brassicaceae tissues, namely extraction in cold methanol, extraction in boiling methanol, and extraction in boiling water were compared across tissue type (root, stem leaf) and four brassicaceae species (B. juncea, S. alba, R. sativus, and E. sativa). Cold methanol extraction was shown to perform as well or better than all other tested methods for extraction of glucosinolates with the exception of glucoraphasatin in R. sativus shoots. It was also demonstrated that lyophilisation methods, routinely used during extraction to allow tissue disruption, can reduce final glucosinolate concentrations and that extracting from frozen wet tissue samples in cold 80% methanol is more effective. CONCLUSIONS: We present a simplified method for extracting glucosinolates from plant tissues which does not require the use of a freeze drier or boiling methanol, and is therefore less hazardous, and more time and cost effective. The presented method has been shown to have comparable or improved glucosinolate extraction efficiency relative to the commonly used ISO method for major glucosinolates in the Brassicaceae species studied: sinigrin and gluconasturtiin in B. juncea; sinalbin, glucotropaeolin, and gluconasturtiin in S. alba; glucoraphenin and glucoraphasatin in R. sativus; and glucosatavin, glucoerucin and glucoraphanin in E. sativa.

Parental attributions for positive behaviours in children with autism spectrum disorder.

BACKGROUND: The present study examined parental attributions for positive child behaviour in children with Autism Spectrum Disorder (ASD) and their association with parent outcomes. METHOD: In total, 175 couples who had a child with ASD (5-12 years) completed measures about the child's positive behaviour, ASD symptoms, functional skills and negative behaviour problems, and their own positive and negative affect and closeness in the parent-child relationship. A comparison group of 170 couples who had a child without a neurodevelopmental disability also completed measures. RESULTS: Dyadic multilevel models were conducted. Parents of children with ASD believed that their child's positive behaviour was due to factors less internal to the child, less stable and less controllable by the child than the comparison group. Beliefs about stability were associated with closeness in the parent-child relationship. Child age and level of impairment and parent education were associated with parental attributions. CONCLUSIONS: Interventions that alter parental attributions may offer pathways to increase closeness in the parent-child relationship.

The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas.

Neurofibromatosis type 1 (NF1) is a common tumor-predisposition disorder due to germline mutations in the tumor suppressor gene NF1. A virtually pathognomonic finding of NF1 is the plexiform neurofibroma (PN), a benign, likely congenital tumor that arises from bi-allelic inactivation of NF1. PN can undergo transformation to a malignant peripheral nerve sheath tumor, an aggressive soft-tissue sarcoma. To better understand the non-NF1 genetic contributions to PN pathogenesis, we performed whole-exome sequencing, RNASeq profiling and genome-wide copy-number determination for 23 low-passage Schwann cell cultures established from surgical PN material with matching germline DNA. All resected tumors were derived from routine debulking surgeries. None of the tumors were considered at risk for malignant transformation at the time; for example, there was no pain or rapid growth. Deep (~500X) NF1 exon sequencing was also conducted on tumor DNA. Non-NF1 somatic mutation verification was performed using the Ampliseq/IonTorrent platform. We identified 100% of the germline NF1 mutations and found somatic NF1 inactivation in 74% of the PN. One individual with three PNs had different NF1 somatic mutations in each tumor. The median number of somatic mutations per sample, including NF1, was one (range 0-8). NF1 was the only gene that was recurrently somatically inactivated in multiple tumors. Gene Set Enrichment Analysis of transcriptome-wide tumor RNA sequencing identified five significant (FDR<0.01) and seven trending (0.01⩽FDR<0.02) gene sets related to DNA replication, telomere maintenance and elongation, cell cycle progression, signal transduction and cell proliferation. We found no recurrent non-NF1 locus copy-number variation in PN. This is the first multi-sample whole-exome and whole-transcriptome sequencing study of NF1-associated PN. Taken together with concurrent copy-number data, our comprehensive genetic analysis reveals the primacy of NF1 loss as the driver of PN tumorigenesis.

Association between reported sleep need and sleepiness at the wheel: comparative study on French highways between 1996 and 2011.

OBJECTIVE: To investigate the evolution over 15 years of sleep schedules, sleepiness at the wheel and driving risk among highway drivers. METHODS: Comparative survey including questions on usual sleep schedules and before the trip, sleepiness at the wheel, the Epworth sleepiness scale, Basic Nordic Sleep Questionnaire (BNSQ) and a travel questionnaire. RESULTS: 80% of drivers stopped by the highway patrol agreed to participate in both studies with a total of 3545 drivers in 2011 and 2196 drivers in 1996 interviewed. After standardisation based on sex, age and mean annual driving distance, drivers in 2011 reported shorter sleep time on week days (p<0.0001), and week-ends (p<0.0001) and shorter optimal sleep time (p<0.0001) compared to 1996 drivers. There were more drivers sleepy at the wheel in 2011 than in 1996 (p<0.0001) and 2.5 times more drivers in 2011 than in 1996 had an Epworth sleepiness score >15 indicating severe sleepiness. CONCLUSIONS: Even if drivers in 2011 reported good sleep hygiene prior to a highway journey, drivers have reduced their mean weekly sleep duration over 15 years and have a higher risk of sleepiness at the wheel. Sleep hygiene for automobile drivers remains an important concept to address.

Self-referral to group cognitive behavioural therapy: Is it effective for treating chronic insomnia?

OBJECTIVES: To evaluate the effectiveness of a short (3 session) programme of group cognitive behavioural therapy (CBT) on insomnia, sleepiness and symptoms of anxiety and depression. METHODS: Prospective observational study of group CBT with follow-up at 3 months. Participants were self-referred patients with chronic insomnia. Outcome measures were the insomnia severity scale (ISI), the Epworth sleepiness scale (ESS), depression (Pichot scale), and the number of anxiety symptoms. RESULTS: Participation in CBT was offered to 489 patients of whom 474 completed the programme and 154 were followed up at 3 months. Significant improvements in insomnia were seen: ISI score (17.74-14.27, P<0.0001) after CBT and at follow-up (13.78, P<0.0001). At the end of CBT, 76% (59/78) with initial severe insomnia and 52% (132/255) with moderate insomnia were improved, maintained at 3 months in 71% (15/21) with severe insomnia and 56% (50/90) with moderate insomnia. Depression and anxiety symptoms were significantly improved: mean depression symptoms (4.15-3.35, P<0.0001) and anxiety symptoms (4.52-3.95, P<0.0001), maintained at 3 months with mean depression symptoms (3.17, P<0.0001) and mean anxiety symptoms (3.62, P<0.0001). Sleepiness increased between baseline and the end of the group (6.67-7.24, P=0.015) followed by a reduction at 3 months (7.19-6.34 at 3 months, P=0.001). Initial ISI score but neither sex nor age were predictive of outcome. CONCLUSIONS: A short programme of CBT can improve sleep, depression and anxiety symptoms in self-referred patients suffering from chronic insomnia with good adherence and maximum benefit in patients with severe insomnia.